Incidental Mutation 'R0538:Dlg1'
| ID |
49640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlg1
|
| Ensembl Gene |
ENSMUSG00000022770 |
| Gene Name |
discs large MAGUK scaffold protein 1 |
| Synonyms |
B130052P05Rik, SAP97, Dlgh1 |
| MMRRC Submission |
038730-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0538 (G1)
|
| Quality Score |
99 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
31482261-31692174 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to C
at 31615682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023454]
[ENSMUST00000023454]
[ENSMUST00000023454]
[ENSMUST00000023454]
[ENSMUST00000064477]
[ENSMUST00000064477]
[ENSMUST00000100001]
[ENSMUST00000100001]
[ENSMUST00000100001]
[ENSMUST00000100001]
[ENSMUST00000115196]
[ENSMUST00000115196]
[ENSMUST00000115196]
[ENSMUST00000115196]
[ENSMUST00000115201]
[ENSMUST00000115201]
[ENSMUST00000115201]
[ENSMUST00000115201]
[ENSMUST00000115205]
[ENSMUST00000115205]
[ENSMUST00000132176]
[ENSMUST00000132176]
|
| AlphaFold |
Q811D0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023454
|
| SMART Domains |
Protein: ENSMUSP00000023454
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
190 |
4.33e-44 |
SMART |
|
PDZ
|
199 |
278 |
5.98e-22 |
SMART |
|
PDZ
|
294 |
373 |
1.94e-21 |
SMART |
|
PDZ
|
441 |
514 |
1.84e-22 |
SMART |
|
low complexity region
|
534 |
542 |
N/A |
INTRINSIC |
|
SH3
|
551 |
617 |
1.27e-9 |
SMART |
|
GuKc
|
681 |
860 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000023454
|
| SMART Domains |
Protein: ENSMUSP00000023454
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
190 |
4.33e-44 |
SMART |
|
PDZ
|
199 |
278 |
5.98e-22 |
SMART |
|
PDZ
|
294 |
373 |
1.94e-21 |
SMART |
|
PDZ
|
441 |
514 |
1.84e-22 |
SMART |
|
low complexity region
|
534 |
542 |
N/A |
INTRINSIC |
|
SH3
|
551 |
617 |
1.27e-9 |
SMART |
|
GuKc
|
681 |
860 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000023454
|
| SMART Domains |
Protein: ENSMUSP00000023454
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
190 |
4.33e-44 |
SMART |
|
PDZ
|
199 |
278 |
5.98e-22 |
SMART |
|
PDZ
|
294 |
373 |
1.94e-21 |
SMART |
|
PDZ
|
441 |
514 |
1.84e-22 |
SMART |
|
low complexity region
|
534 |
542 |
N/A |
INTRINSIC |
|
SH3
|
551 |
617 |
1.27e-9 |
SMART |
|
GuKc
|
681 |
860 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000023454
|
| SMART Domains |
Protein: ENSMUSP00000023454
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
190 |
4.33e-44 |
SMART |
|
PDZ
|
199 |
278 |
5.98e-22 |
SMART |
|
PDZ
|
294 |
373 |
1.94e-21 |
SMART |
|
PDZ
|
441 |
514 |
1.84e-22 |
SMART |
|
low complexity region
|
534 |
542 |
N/A |
INTRINSIC |
|
SH3
|
551 |
617 |
1.27e-9 |
SMART |
|
GuKc
|
681 |
860 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000064477
|
| SMART Domains |
Protein: ENSMUSP00000064280
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
736 |
915 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000064477
|
| SMART Domains |
Protein: ENSMUSP00000064280
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
736 |
915 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100001
|
| SMART Domains |
Protein: ENSMUSP00000097581
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
714 |
893 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100001
|
| SMART Domains |
Protein: ENSMUSP00000097581
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
714 |
893 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100001
|
| SMART Domains |
Protein: ENSMUSP00000097581
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
714 |
893 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100001
|
| SMART Domains |
Protein: ENSMUSP00000097581
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
714 |
893 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115196
|
| SMART Domains |
Protein: ENSMUSP00000110850
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
27 |
N/A |
INTRINSIC |
|
MAGUK_N_PEST
|
30 |
140 |
1.81e-14 |
SMART |
|
PDZ
|
149 |
228 |
5.98e-22 |
SMART |
|
PDZ
|
244 |
323 |
1.94e-21 |
SMART |
|
PDZ
|
391 |
464 |
1.84e-22 |
SMART |
|
low complexity region
|
484 |
492 |
N/A |
INTRINSIC |
|
SH3
|
501 |
567 |
1.27e-9 |
SMART |
|
GuKc
|
643 |
822 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115196
|
| SMART Domains |
Protein: ENSMUSP00000110850
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
27 |
N/A |
INTRINSIC |
|
MAGUK_N_PEST
|
30 |
140 |
1.81e-14 |
SMART |
|
PDZ
|
149 |
228 |
5.98e-22 |
SMART |
|
PDZ
|
244 |
323 |
1.94e-21 |
SMART |
|
PDZ
|
391 |
464 |
1.84e-22 |
SMART |
|
low complexity region
|
484 |
492 |
N/A |
INTRINSIC |
|
SH3
|
501 |
567 |
1.27e-9 |
SMART |
|
GuKc
|
643 |
822 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115196
|
| SMART Domains |
Protein: ENSMUSP00000110850
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
27 |
N/A |
INTRINSIC |
|
MAGUK_N_PEST
|
30 |
140 |
1.81e-14 |
SMART |
|
PDZ
|
149 |
228 |
5.98e-22 |
SMART |
|
PDZ
|
244 |
323 |
1.94e-21 |
SMART |
|
PDZ
|
391 |
464 |
1.84e-22 |
SMART |
|
low complexity region
|
484 |
492 |
N/A |
INTRINSIC |
|
SH3
|
501 |
567 |
1.27e-9 |
SMART |
|
GuKc
|
643 |
822 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115196
|
| SMART Domains |
Protein: ENSMUSP00000110850
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
27 |
N/A |
INTRINSIC |
|
MAGUK_N_PEST
|
30 |
140 |
1.81e-14 |
SMART |
|
PDZ
|
149 |
228 |
5.98e-22 |
SMART |
|
PDZ
|
244 |
323 |
1.94e-21 |
SMART |
|
PDZ
|
391 |
464 |
1.84e-22 |
SMART |
|
low complexity region
|
484 |
492 |
N/A |
INTRINSIC |
|
SH3
|
501 |
567 |
1.27e-9 |
SMART |
|
GuKc
|
643 |
822 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115201
|
| SMART Domains |
Protein: ENSMUSP00000110855
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
721 |
900 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115201
|
| SMART Domains |
Protein: ENSMUSP00000110855
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
721 |
900 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115201
|
| SMART Domains |
Protein: ENSMUSP00000110855
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
721 |
900 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115201
|
| SMART Domains |
Protein: ENSMUSP00000110855
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
721 |
900 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115205
|
| SMART Domains |
Protein: ENSMUSP00000110859
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
714 |
893 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115205
|
| SMART Domains |
Protein: ENSMUSP00000110859
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
223 |
6.07e-57 |
SMART |
|
PDZ
|
232 |
311 |
5.98e-22 |
SMART |
|
PDZ
|
327 |
406 |
1.94e-21 |
SMART |
|
PDZ
|
474 |
547 |
1.84e-22 |
SMART |
|
low complexity region
|
567 |
575 |
N/A |
INTRINSIC |
|
SH3
|
584 |
650 |
1.27e-9 |
SMART |
|
GuKc
|
714 |
893 |
1.54e-75 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131136
|
| SMART Domains |
Protein: ENSMUSP00000115954
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
38 |
117 |
1.94e-21 |
SMART |
|
PDZ
|
170 |
243 |
1.84e-22 |
SMART |
|
low complexity region
|
263 |
271 |
N/A |
INTRINSIC |
|
SH3
|
280 |
346 |
1.27e-9 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131136
|
| SMART Domains |
Protein: ENSMUSP00000115954
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
38 |
117 |
1.94e-21 |
SMART |
|
PDZ
|
170 |
243 |
1.84e-22 |
SMART |
|
low complexity region
|
263 |
271 |
N/A |
INTRINSIC |
|
SH3
|
280 |
346 |
1.27e-9 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131136
|
| SMART Domains |
Protein: ENSMUSP00000115954
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
38 |
117 |
1.94e-21 |
SMART |
|
PDZ
|
170 |
243 |
1.84e-22 |
SMART |
|
low complexity region
|
263 |
271 |
N/A |
INTRINSIC |
|
SH3
|
280 |
346 |
1.27e-9 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131136
|
| SMART Domains |
Protein: ENSMUSP00000115954
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
38 |
117 |
1.94e-21 |
SMART |
|
PDZ
|
170 |
243 |
1.84e-22 |
SMART |
|
low complexity region
|
263 |
271 |
N/A |
INTRINSIC |
|
SH3
|
280 |
346 |
1.27e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132176
|
| SMART Domains |
Protein: ENSMUSP00000138782
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
190 |
4.33e-44 |
SMART |
|
PDZ
|
199 |
278 |
5.98e-22 |
SMART |
|
PDZ
|
294 |
373 |
1.94e-21 |
SMART |
|
PDZ
|
426 |
499 |
1.84e-22 |
SMART |
|
low complexity region
|
519 |
527 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132176
|
| SMART Domains |
Protein: ENSMUSP00000138782
Gene: ENSMUSG00000022770
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
7 |
67 |
7.33e-12 |
SMART |
|
MAGUK_N_PEST
|
106 |
190 |
4.33e-44 |
SMART |
|
PDZ
|
199 |
278 |
5.98e-22 |
SMART |
|
PDZ
|
294 |
373 |
1.94e-21 |
SMART |
|
PDZ
|
426 |
499 |
1.84e-22 |
SMART |
|
low complexity region
|
519 |
527 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9493 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
| Validation Efficiency |
98% (126/129) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene, but the full-length nature of some of the variants is not known. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit neonatal lethality, craniofacial defects, and abnormal eye morphology. Mice homozygous for knock-out alleles exhibit neonatal lethality, kidney defects, reproductive organ morphology, and cleft palate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 129 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I07Rik |
A |
T |
14: 67,175,823 (GRCm39) |
H6L |
unknown |
Het |
| Abca13 |
G |
A |
11: 9,217,622 (GRCm39) |
|
probably null |
Het |
| Acad12 |
C |
T |
5: 121,745,511 (GRCm39) |
R260Q |
possibly damaging |
Het |
| Actn1 |
G |
A |
12: 80,306,874 (GRCm39) |
|
probably benign |
Het |
| Acvrl1 |
A |
G |
15: 101,034,030 (GRCm39) |
T182A |
probably damaging |
Het |
| Adam23 |
T |
C |
1: 63,607,003 (GRCm39) |
|
probably benign |
Het |
| Adamtsl1 |
A |
T |
4: 86,261,358 (GRCm39) |
T1190S |
probably benign |
Het |
| Adh6b |
A |
T |
3: 138,063,411 (GRCm39) |
Y330F |
probably benign |
Het |
| Ak7 |
A |
G |
12: 105,732,876 (GRCm39) |
E540G |
probably damaging |
Het |
| Akr1c19 |
T |
A |
13: 4,287,099 (GRCm39) |
L106Q |
probably damaging |
Het |
| Ankrd12 |
A |
T |
17: 66,356,847 (GRCm39) |
S57T |
probably damaging |
Het |
| Aoc3 |
G |
A |
11: 101,222,964 (GRCm39) |
R400Q |
possibly damaging |
Het |
| Arel1 |
A |
T |
12: 84,988,611 (GRCm39) |
I46N |
probably damaging |
Het |
| Armc5 |
A |
G |
7: 127,843,463 (GRCm39) |
D752G |
probably damaging |
Het |
| Atp11b |
T |
C |
3: 35,891,163 (GRCm39) |
V812A |
probably damaging |
Het |
| Axin1 |
A |
G |
17: 26,403,215 (GRCm39) |
H131R |
possibly damaging |
Het |
| Bpifb3 |
A |
G |
2: 153,765,789 (GRCm39) |
E184G |
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,401,582 (GRCm39) |
|
probably benign |
Het |
| Catsperd |
T |
C |
17: 56,969,828 (GRCm39) |
F641L |
probably benign |
Het |
| Ccdc83 |
A |
C |
7: 89,877,591 (GRCm39) |
L284V |
probably damaging |
Het |
| Ccn2 |
T |
A |
10: 24,472,364 (GRCm39) |
C136S |
probably damaging |
Het |
| Ccnt2 |
T |
A |
1: 127,730,902 (GRCm39) |
V593E |
probably damaging |
Het |
| Cd53 |
T |
A |
3: 106,669,444 (GRCm39) |
I185F |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,724,366 (GRCm39) |
D3077E |
possibly damaging |
Het |
| Ces1h |
C |
A |
8: 94,083,628 (GRCm39) |
|
probably null |
Het |
| Chrna3 |
T |
A |
9: 54,923,290 (GRCm39) |
T173S |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,627,717 (GRCm39) |
D418G |
probably benign |
Het |
| Col11a2 |
T |
C |
17: 34,270,302 (GRCm39) |
|
probably benign |
Het |
| Coq2 |
T |
A |
5: 100,815,889 (GRCm39) |
I97F |
possibly damaging |
Het |
| Cr2 |
A |
G |
1: 194,842,667 (GRCm39) |
|
probably benign |
Het |
| D2hgdh |
A |
G |
1: 93,754,099 (GRCm39) |
Y24C |
probably damaging |
Het |
| D630045J12Rik |
G |
A |
6: 38,168,628 (GRCm39) |
R974C |
probably damaging |
Het |
| Dach1 |
A |
G |
14: 98,140,715 (GRCm39) |
V429A |
possibly damaging |
Het |
| Ddr1 |
G |
A |
17: 35,995,899 (GRCm39) |
T660I |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,651,631 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,301,120 (GRCm39) |
D2330E |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,953,815 (GRCm39) |
N128S |
possibly damaging |
Het |
| Doc2a |
A |
G |
7: 126,447,983 (GRCm39) |
T5A |
probably benign |
Het |
| Dock2 |
G |
A |
11: 34,595,545 (GRCm39) |
|
probably benign |
Het |
| Dok4 |
T |
A |
8: 95,591,866 (GRCm39) |
Y290F |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,367,550 (GRCm39) |
D11G |
probably damaging |
Het |
| E230025N22Rik |
T |
C |
18: 36,821,987 (GRCm39) |
H235R |
probably benign |
Het |
| Ear6 |
A |
G |
14: 52,091,909 (GRCm39) |
D152G |
probably damaging |
Het |
| Ecscr |
T |
A |
18: 35,846,689 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
A |
T |
11: 29,710,010 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
T |
A |
1: 77,365,178 (GRCm39) |
Q607L |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,948,998 (GRCm39) |
N947S |
probably benign |
Het |
| Flg |
A |
G |
3: 93,186,767 (GRCm39) |
E73G |
probably damaging |
Het |
| Fndc1 |
C |
T |
17: 8,003,173 (GRCm39) |
|
probably benign |
Het |
| Gad1-ps |
T |
C |
10: 99,280,854 (GRCm39) |
|
noncoding transcript |
Het |
| Gata6 |
A |
G |
18: 11,064,771 (GRCm39) |
T528A |
probably benign |
Het |
| Gjd4 |
T |
C |
18: 9,280,244 (GRCm39) |
E278G |
probably benign |
Het |
| Gm20091 |
T |
A |
10: 96,244,864 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb3 |
G |
A |
6: 124,812,659 (GRCm39) |
Q266* |
probably null |
Het |
| Grm3 |
A |
G |
5: 9,562,446 (GRCm39) |
V468A |
possibly damaging |
Het |
| Igf1r |
C |
T |
7: 67,857,574 (GRCm39) |
R1085C |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,227,527 (GRCm39) |
T2049A |
probably damaging |
Het |
| Jak3 |
A |
T |
8: 72,138,126 (GRCm39) |
D859V |
probably benign |
Het |
| Kcnb2 |
G |
T |
1: 15,783,108 (GRCm39) |
|
probably benign |
Het |
| Kcnh3 |
G |
A |
15: 99,138,839 (GRCm39) |
G858D |
probably benign |
Het |
| Kif1a |
C |
A |
1: 92,971,360 (GRCm39) |
R1006L |
probably damaging |
Het |
| Klhl23 |
C |
T |
2: 69,654,757 (GRCm39) |
A209V |
probably benign |
Het |
| Mapk13 |
T |
C |
17: 28,994,229 (GRCm39) |
Y104H |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,826,443 (GRCm39) |
S183P |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,750,187 (GRCm39) |
|
probably null |
Het |
| Mipol1 |
G |
A |
12: 57,461,197 (GRCm39) |
|
probably null |
Het |
| Mmp14 |
A |
G |
14: 54,676,166 (GRCm39) |
T299A |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,953,453 (GRCm39) |
E578G |
probably benign |
Het |
| Mov10l1 |
G |
A |
15: 88,879,063 (GRCm39) |
C193Y |
possibly damaging |
Het |
| Mppe1 |
A |
G |
18: 67,370,548 (GRCm39) |
C50R |
probably damaging |
Het |
| Msantd1 |
C |
A |
5: 35,075,069 (GRCm39) |
R44S |
probably damaging |
Het |
| Myt1l |
T |
C |
12: 29,892,570 (GRCm39) |
V69A |
possibly damaging |
Het |
| Nav1 |
A |
T |
1: 135,392,430 (GRCm39) |
|
probably benign |
Het |
| Ncan |
A |
G |
8: 70,561,252 (GRCm39) |
S572P |
possibly damaging |
Het |
| Nck2 |
T |
C |
1: 43,608,304 (GRCm39) |
|
probably benign |
Het |
| Nemf |
A |
T |
12: 69,403,088 (GRCm39) |
D31E |
probably damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,297,892 (GRCm39) |
D93G |
possibly damaging |
Het |
| Nsmaf |
A |
T |
4: 6,419,930 (GRCm39) |
|
probably null |
Het |
| Nup98 |
T |
C |
7: 101,835,892 (GRCm39) |
T184A |
probably damaging |
Het |
| Oog2 |
C |
A |
4: 143,922,654 (GRCm39) |
Y306* |
probably null |
Het |
| Or13a18 |
A |
T |
7: 140,190,297 (GRCm39) |
N73Y |
probably damaging |
Het |
| Or6ae1 |
A |
T |
7: 139,742,144 (GRCm39) |
S240T |
probably damaging |
Het |
| Or6b2b |
A |
T |
1: 92,419,055 (GRCm39) |
C141S |
possibly damaging |
Het |
| Osmr |
A |
G |
15: 6,871,419 (GRCm39) |
|
probably benign |
Het |
| P2rx6 |
A |
G |
16: 17,386,162 (GRCm39) |
N275S |
probably benign |
Het |
| Pbxip1 |
G |
T |
3: 89,354,926 (GRCm39) |
G482W |
possibly damaging |
Het |
| Pcsk4 |
T |
G |
10: 80,161,168 (GRCm39) |
I249L |
probably damaging |
Het |
| Pou4f2 |
C |
T |
8: 79,162,291 (GRCm39) |
G104E |
probably damaging |
Het |
| Pramel28 |
T |
A |
4: 143,691,653 (GRCm39) |
T357S |
possibly damaging |
Het |
| Prkdc |
G |
T |
16: 15,651,652 (GRCm39) |
R3763L |
probably damaging |
Het |
| Ptpre |
A |
T |
7: 135,265,044 (GRCm39) |
I207F |
probably damaging |
Het |
| Rapgef3 |
A |
T |
15: 97,655,698 (GRCm39) |
|
probably benign |
Het |
| Rasgrp1 |
T |
G |
2: 117,115,428 (GRCm39) |
K685T |
probably benign |
Het |
| Rnf148 |
C |
T |
6: 23,654,237 (GRCm39) |
R253Q |
probably damaging |
Het |
| Rock1 |
T |
C |
18: 10,132,227 (GRCm39) |
I241V |
possibly damaging |
Het |
| Rp1l1 |
T |
G |
14: 64,259,541 (GRCm39) |
V61G |
probably damaging |
Het |
| Scin |
A |
C |
12: 40,131,770 (GRCm39) |
S255A |
probably damaging |
Het |
| Scn8a |
A |
T |
15: 100,933,505 (GRCm39) |
K1570* |
probably null |
Het |
| Sec14l4 |
A |
C |
11: 3,990,018 (GRCm39) |
M106L |
probably benign |
Het |
| Sec63 |
G |
A |
10: 42,674,795 (GRCm39) |
R226H |
probably benign |
Het |
| Septin2 |
T |
A |
1: 93,429,345 (GRCm39) |
N271K |
probably damaging |
Het |
| Serac1 |
G |
T |
17: 6,099,101 (GRCm39) |
|
probably benign |
Het |
| Shc2 |
T |
A |
10: 79,465,974 (GRCm39) |
|
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,471,873 (GRCm39) |
D1284E |
probably benign |
Het |
| Slc11a2 |
A |
G |
15: 100,306,097 (GRCm39) |
L105P |
probably damaging |
Het |
| Slc1a3 |
T |
A |
15: 8,680,406 (GRCm39) |
T151S |
probably benign |
Het |
| Smarca2 |
G |
T |
19: 26,668,762 (GRCm39) |
K920N |
probably damaging |
Het |
| Sugp2 |
G |
A |
8: 70,711,598 (GRCm39) |
E964K |
probably damaging |
Het |
| Tas2r122 |
A |
C |
6: 132,688,778 (GRCm39) |
N38K |
probably benign |
Het |
| Tecpr1 |
G |
A |
5: 144,143,092 (GRCm39) |
R730C |
probably damaging |
Het |
| Tent2 |
A |
T |
13: 93,312,123 (GRCm39) |
|
probably benign |
Het |
| Themis3 |
G |
T |
17: 66,900,265 (GRCm39) |
N34K |
possibly damaging |
Het |
| Traf3ip1 |
A |
G |
1: 91,427,341 (GRCm39) |
T104A |
unknown |
Het |
| Trappc11 |
A |
G |
8: 47,956,447 (GRCm39) |
V843A |
probably benign |
Het |
| Trmt61a |
T |
A |
12: 111,645,361 (GRCm39) |
L99Q |
probably damaging |
Het |
| Trp53tg5 |
T |
A |
2: 164,313,401 (GRCm39) |
K91N |
probably damaging |
Het |
| Ufsp2 |
T |
C |
8: 46,445,187 (GRCm39) |
S339P |
probably damaging |
Het |
| Usp20 |
T |
A |
2: 30,894,462 (GRCm39) |
V126E |
probably damaging |
Het |
| Vmn1r75 |
T |
A |
7: 11,614,797 (GRCm39) |
N176K |
probably damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,793,012 (GRCm39) |
S780G |
probably benign |
Het |
| Vmn2r89 |
A |
G |
14: 51,695,048 (GRCm39) |
|
probably null |
Het |
| Vps13d |
A |
T |
4: 144,771,665 (GRCm39) |
S4038T |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,241,627 (GRCm39) |
T421A |
probably damaging |
Het |
| Wdr95 |
C |
A |
5: 149,504,271 (GRCm39) |
L332I |
probably damaging |
Het |
| Wrn |
T |
A |
8: 33,826,119 (GRCm39) |
K181I |
probably damaging |
Het |
| Zc3h6 |
T |
A |
2: 128,859,143 (GRCm39) |
I1058N |
possibly damaging |
Het |
| Zfp423 |
T |
A |
8: 88,508,713 (GRCm39) |
I544F |
probably damaging |
Het |
| Zfp446 |
T |
A |
7: 12,713,516 (GRCm39) |
S161T |
possibly damaging |
Het |
| Zmym6 |
T |
A |
4: 127,017,162 (GRCm39) |
M889K |
probably benign |
Het |
|
| Other mutations in Dlg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01604:Dlg1
|
APN |
16 |
31,675,256 (GRCm39) |
splice site |
probably benign |
|
|
IGL02277:Dlg1
|
APN |
16 |
31,609,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02897:Dlg1
|
APN |
16 |
31,590,674 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03025:Dlg1
|
APN |
16 |
31,624,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03271:Dlg1
|
APN |
16 |
31,676,710 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4812001:Dlg1
|
UTSW |
16 |
31,665,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0068:Dlg1
|
UTSW |
16 |
31,655,018 (GRCm39) |
unclassified |
probably benign |
|
|
R0115:Dlg1
|
UTSW |
16 |
31,624,508 (GRCm39) |
nonsense |
probably null |
|
|
R0128:Dlg1
|
UTSW |
16 |
31,676,883 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0257:Dlg1
|
UTSW |
16 |
31,661,671 (GRCm39) |
splice site |
probably benign |
|
|
R0268:Dlg1
|
UTSW |
16 |
31,503,011 (GRCm39) |
missense |
probably benign |
|
|
R0312:Dlg1
|
UTSW |
16 |
31,609,085 (GRCm39) |
missense |
probably benign |
|
|
R0321:Dlg1
|
UTSW |
16 |
31,676,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0355:Dlg1
|
UTSW |
16 |
31,502,992 (GRCm39) |
nonsense |
probably null |
|
|
R0540:Dlg1
|
UTSW |
16 |
31,656,992 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0607:Dlg1
|
UTSW |
16 |
31,656,992 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0607:Dlg1
|
UTSW |
16 |
31,484,398 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0894:Dlg1
|
UTSW |
16 |
31,561,965 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1107:Dlg1
|
UTSW |
16 |
31,665,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1349:Dlg1
|
UTSW |
16 |
31,631,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1372:Dlg1
|
UTSW |
16 |
31,631,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Dlg1
|
UTSW |
16 |
31,661,640 (GRCm39) |
splice site |
probably null |
|
|
R1468:Dlg1
|
UTSW |
16 |
31,661,640 (GRCm39) |
splice site |
probably null |
|
|
R1696:Dlg1
|
UTSW |
16 |
31,600,616 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1772:Dlg1
|
UTSW |
16 |
31,484,485 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1795:Dlg1
|
UTSW |
16 |
31,561,965 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2106:Dlg1
|
UTSW |
16 |
31,631,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Dlg1
|
UTSW |
16 |
31,672,664 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2207:Dlg1
|
UTSW |
16 |
31,672,664 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2846:Dlg1
|
UTSW |
16 |
31,682,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3954:Dlg1
|
UTSW |
16 |
31,676,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4714:Dlg1
|
UTSW |
16 |
31,609,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Dlg1
|
UTSW |
16 |
31,610,570 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4898:Dlg1
|
UTSW |
16 |
31,676,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Dlg1
|
UTSW |
16 |
31,573,626 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4966:Dlg1
|
UTSW |
16 |
31,573,626 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4985:Dlg1
|
UTSW |
16 |
31,606,953 (GRCm39) |
splice site |
probably null |
|
|
R5068:Dlg1
|
UTSW |
16 |
31,503,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5069:Dlg1
|
UTSW |
16 |
31,503,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5078:Dlg1
|
UTSW |
16 |
31,675,287 (GRCm39) |
nonsense |
probably null |
|
|
R5090:Dlg1
|
UTSW |
16 |
31,656,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5225:Dlg1
|
UTSW |
16 |
31,655,085 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5888:Dlg1
|
UTSW |
16 |
31,610,704 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5950:Dlg1
|
UTSW |
16 |
31,484,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6029:Dlg1
|
UTSW |
16 |
31,612,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6132:Dlg1
|
UTSW |
16 |
31,655,059 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6246:Dlg1
|
UTSW |
16 |
31,484,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6294:Dlg1
|
UTSW |
16 |
31,656,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6322:Dlg1
|
UTSW |
16 |
31,675,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7147:Dlg1
|
UTSW |
16 |
31,610,672 (GRCm39) |
missense |
probably benign |
|
|
R7216:Dlg1
|
UTSW |
16 |
31,615,736 (GRCm39) |
frame shift |
probably null |
|
|
R7963:Dlg1
|
UTSW |
16 |
31,609,119 (GRCm39) |
missense |
probably null |
0.92 |
|
R7985:Dlg1
|
UTSW |
16 |
31,606,923 (GRCm39) |
nonsense |
probably null |
|
|
R8041:Dlg1
|
UTSW |
16 |
31,656,885 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8111:Dlg1
|
UTSW |
16 |
31,661,620 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8751:Dlg1
|
UTSW |
16 |
31,600,648 (GRCm39) |
missense |
probably benign |
|
|
R9052:Dlg1
|
UTSW |
16 |
31,656,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9674:Dlg1
|
UTSW |
16 |
31,610,580 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9725:Dlg1
|
UTSW |
16 |
31,665,683 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9741:Dlg1
|
UTSW |
16 |
31,676,735 (GRCm39) |
nonsense |
probably null |
|
|
X0021:Dlg1
|
UTSW |
16 |
31,484,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAAGAAGCTAGAGTCAAAAGTGTCT -3'
(R):5'- GACAGTCTGTCTCCATCTCCTCATCA -3'
Sequencing Primer
(F):5'- AAGCTAGAGTCAAAAGTGTCTATTTC -3'
(R):5'- GCATAGTCATGAAAATAAGACACGC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation