Incidental Mutation 'R4777:Mcf2l'
ID |
368023 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcf2l
|
Ensembl Gene |
ENSMUSG00000031442 |
Gene Name |
mcf.2 transforming sequence-like |
Synonyms |
Dbs, C130040G20Rik |
MMRRC Submission |
041992-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4777 (G1)
|
Quality Score |
186 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
12923806-13070502 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 13068051 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133776
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095456]
[ENSMUST00000098927]
[ENSMUST00000098927]
[ENSMUST00000110866]
[ENSMUST00000110867]
[ENSMUST00000110871]
[ENSMUST00000110873]
[ENSMUST00000110876]
[ENSMUST00000110879]
[ENSMUST00000110879]
[ENSMUST00000145067]
[ENSMUST00000173099]
[ENSMUST00000173099]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000095456
|
SMART Domains |
Protein: ENSMUSP00000093108 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
SEC14
|
75 |
221 |
1.77e-24 |
SMART |
SPEC
|
354 |
455 |
4.41e-15 |
SMART |
coiled coil region
|
507 |
529 |
N/A |
INTRINSIC |
low complexity region
|
578 |
594 |
N/A |
INTRINSIC |
RhoGEF
|
636 |
811 |
2.83e-63 |
SMART |
PH
|
831 |
948 |
8.13e-14 |
SMART |
low complexity region
|
966 |
978 |
N/A |
INTRINSIC |
SH3
|
1058 |
1115 |
3.33e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000098927
|
SMART Domains |
Protein: ENSMUSP00000096528 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
SEC14
|
49 |
195 |
1.77e-24 |
SMART |
SPEC
|
328 |
429 |
4.41e-15 |
SMART |
coiled coil region
|
481 |
503 |
N/A |
INTRINSIC |
low complexity region
|
552 |
568 |
N/A |
INTRINSIC |
RhoGEF
|
610 |
785 |
2.83e-63 |
SMART |
PH
|
805 |
922 |
8.13e-14 |
SMART |
low complexity region
|
940 |
952 |
N/A |
INTRINSIC |
low complexity region
|
1022 |
1033 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000098927
|
SMART Domains |
Protein: ENSMUSP00000096528 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
SEC14
|
49 |
195 |
1.77e-24 |
SMART |
SPEC
|
328 |
429 |
4.41e-15 |
SMART |
coiled coil region
|
481 |
503 |
N/A |
INTRINSIC |
low complexity region
|
552 |
568 |
N/A |
INTRINSIC |
RhoGEF
|
610 |
785 |
2.83e-63 |
SMART |
PH
|
805 |
922 |
8.13e-14 |
SMART |
low complexity region
|
940 |
952 |
N/A |
INTRINSIC |
low complexity region
|
1022 |
1033 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110866
|
SMART Domains |
Protein: ENSMUSP00000106490 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
SEC14
|
23 |
169 |
1.77e-24 |
SMART |
SPEC
|
302 |
403 |
4.41e-15 |
SMART |
coiled coil region
|
455 |
477 |
N/A |
INTRINSIC |
low complexity region
|
526 |
542 |
N/A |
INTRINSIC |
RhoGEF
|
584 |
759 |
2.83e-63 |
SMART |
PH
|
779 |
896 |
8.13e-14 |
SMART |
low complexity region
|
914 |
926 |
N/A |
INTRINSIC |
SH3
|
1006 |
1063 |
3.33e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110867
|
SMART Domains |
Protein: ENSMUSP00000106491 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
SEC14
|
23 |
169 |
1.77e-24 |
SMART |
SPEC
|
302 |
403 |
4.41e-15 |
SMART |
coiled coil region
|
455 |
477 |
N/A |
INTRINSIC |
low complexity region
|
526 |
542 |
N/A |
INTRINSIC |
RhoGEF
|
584 |
759 |
2.83e-63 |
SMART |
PH
|
779 |
896 |
8.13e-14 |
SMART |
low complexity region
|
914 |
926 |
N/A |
INTRINSIC |
SH3
|
1006 |
1063 |
3.33e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110871
|
SMART Domains |
Protein: ENSMUSP00000106495 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
SEC14
|
43 |
189 |
1.77e-24 |
SMART |
SPEC
|
322 |
423 |
4.41e-15 |
SMART |
coiled coil region
|
475 |
497 |
N/A |
INTRINSIC |
low complexity region
|
546 |
562 |
N/A |
INTRINSIC |
RhoGEF
|
604 |
779 |
2.83e-63 |
SMART |
PH
|
799 |
916 |
8.13e-14 |
SMART |
low complexity region
|
934 |
946 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110873
|
SMART Domains |
Protein: ENSMUSP00000106497 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
SPEC
|
165 |
266 |
4.41e-15 |
SMART |
coiled coil region
|
318 |
340 |
N/A |
INTRINSIC |
low complexity region
|
389 |
405 |
N/A |
INTRINSIC |
RhoGEF
|
447 |
622 |
2.83e-63 |
SMART |
PH
|
642 |
759 |
8.13e-14 |
SMART |
low complexity region
|
777 |
789 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110876
|
SMART Domains |
Protein: ENSMUSP00000106500 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
SEC14
|
45 |
191 |
1.77e-24 |
SMART |
SPEC
|
324 |
425 |
4.41e-15 |
SMART |
coiled coil region
|
477 |
499 |
N/A |
INTRINSIC |
low complexity region
|
548 |
564 |
N/A |
INTRINSIC |
RhoGEF
|
606 |
781 |
2.83e-63 |
SMART |
PH
|
801 |
918 |
8.13e-14 |
SMART |
low complexity region
|
936 |
948 |
N/A |
INTRINSIC |
SH3
|
1084 |
1141 |
3.33e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110879
|
SMART Domains |
Protein: ENSMUSP00000106503 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
SEC14
|
45 |
191 |
1.77e-24 |
SMART |
SPEC
|
324 |
425 |
4.41e-15 |
SMART |
coiled coil region
|
477 |
499 |
N/A |
INTRINSIC |
low complexity region
|
548 |
564 |
N/A |
INTRINSIC |
RhoGEF
|
606 |
781 |
2.83e-63 |
SMART |
PH
|
801 |
918 |
8.13e-14 |
SMART |
low complexity region
|
936 |
948 |
N/A |
INTRINSIC |
SH3
|
1028 |
1085 |
3.33e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110879
|
SMART Domains |
Protein: ENSMUSP00000106503 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
SEC14
|
45 |
191 |
1.77e-24 |
SMART |
SPEC
|
324 |
425 |
4.41e-15 |
SMART |
coiled coil region
|
477 |
499 |
N/A |
INTRINSIC |
low complexity region
|
548 |
564 |
N/A |
INTRINSIC |
RhoGEF
|
606 |
781 |
2.83e-63 |
SMART |
PH
|
801 |
918 |
8.13e-14 |
SMART |
low complexity region
|
936 |
948 |
N/A |
INTRINSIC |
SH3
|
1028 |
1085 |
3.33e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000123811
|
SMART Domains |
Protein: ENSMUSP00000123434 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
PH
|
1 |
88 |
6.67e-1 |
SMART |
low complexity region
|
106 |
118 |
N/A |
INTRINSIC |
SH3
|
198 |
255 |
3.33e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000123811
|
SMART Domains |
Protein: ENSMUSP00000123434 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
PH
|
1 |
88 |
6.67e-1 |
SMART |
low complexity region
|
106 |
118 |
N/A |
INTRINSIC |
SH3
|
198 |
255 |
3.33e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000126905
|
SMART Domains |
Protein: ENSMUSP00000118540 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
SPEC
|
5 |
88 |
8.25e-6 |
SMART |
coiled coil region
|
139 |
161 |
N/A |
INTRINSIC |
low complexity region
|
211 |
227 |
N/A |
INTRINSIC |
RhoGEF
|
269 |
444 |
2.83e-63 |
SMART |
PH
|
464 |
581 |
8.13e-14 |
SMART |
low complexity region
|
599 |
611 |
N/A |
INTRINSIC |
SH3
|
716 |
773 |
3.33e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000134227
|
SMART Domains |
Protein: ENSMUSP00000116731 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
Pfam:PH
|
1 |
81 |
1.5e-7 |
PFAM |
low complexity region
|
101 |
113 |
N/A |
INTRINSIC |
low complexity region
|
236 |
247 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000134227
|
SMART Domains |
Protein: ENSMUSP00000116731 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
Pfam:PH
|
1 |
81 |
1.5e-7 |
PFAM |
low complexity region
|
101 |
113 |
N/A |
INTRINSIC |
low complexity region
|
236 |
247 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000139776
|
SMART Domains |
Protein: ENSMUSP00000120946 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
SH3
|
99 |
156 |
3.33e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000139776
|
SMART Domains |
Protein: ENSMUSP00000120946 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
SH3
|
99 |
156 |
3.33e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000145067
|
SMART Domains |
Protein: ENSMUSP00000133577 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
Pfam:CRAL_TRIO_2
|
16 |
132 |
2.4e-12 |
PFAM |
SPEC
|
261 |
362 |
4.41e-15 |
SMART |
coiled coil region
|
414 |
436 |
N/A |
INTRINSIC |
low complexity region
|
485 |
501 |
N/A |
INTRINSIC |
RhoGEF
|
543 |
718 |
2.83e-63 |
SMART |
PH
|
738 |
855 |
8.13e-14 |
SMART |
low complexity region
|
873 |
885 |
N/A |
INTRINSIC |
SH3
|
1021 |
1078 |
3.33e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000173099
|
SMART Domains |
Protein: ENSMUSP00000133776 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
SEC14
|
41 |
187 |
1.77e-24 |
SMART |
SPEC
|
320 |
421 |
4.41e-15 |
SMART |
coiled coil region
|
473 |
495 |
N/A |
INTRINSIC |
low complexity region
|
544 |
560 |
N/A |
INTRINSIC |
RhoGEF
|
602 |
777 |
2.83e-63 |
SMART |
PH
|
797 |
914 |
8.13e-14 |
SMART |
low complexity region
|
932 |
944 |
N/A |
INTRINSIC |
low complexity region
|
1014 |
1025 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000173099
|
SMART Domains |
Protein: ENSMUSP00000133776 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
SEC14
|
41 |
187 |
1.77e-24 |
SMART |
SPEC
|
320 |
421 |
4.41e-15 |
SMART |
coiled coil region
|
473 |
495 |
N/A |
INTRINSIC |
low complexity region
|
544 |
560 |
N/A |
INTRINSIC |
RhoGEF
|
602 |
777 |
2.83e-63 |
SMART |
PH
|
797 |
914 |
8.13e-14 |
SMART |
low complexity region
|
932 |
944 |
N/A |
INTRINSIC |
low complexity region
|
1014 |
1025 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134989
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118696
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127229
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145892
|
SMART Domains |
Protein: ENSMUSP00000114758 Gene: ENSMUSG00000031442
Domain | Start | End | E-Value | Type |
Blast:PH
|
2 |
23 |
1e-6 |
BLAST |
PDB:1KZG|C
|
2 |
40 |
1e-19 |
PDB |
SCOP:d1kz7a2
|
2 |
40 |
6e-7 |
SMART |
low complexity region
|
41 |
53 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
C |
3: 137,771,503 (GRCm39) |
S231R |
probably benign |
Het |
5730455P16Rik |
A |
T |
11: 80,265,041 (GRCm39) |
I137N |
probably damaging |
Het |
Abhd10 |
G |
A |
16: 45,557,279 (GRCm39) |
Q176* |
probably null |
Het |
Acer3 |
T |
C |
7: 97,910,804 (GRCm39) |
Y86C |
probably damaging |
Het |
Ankrd36 |
T |
C |
11: 5,557,120 (GRCm39) |
V356A |
probably benign |
Het |
Atp1a1 |
A |
G |
3: 101,502,312 (GRCm39) |
|
probably null |
Het |
Bmp8b |
G |
A |
4: 123,015,793 (GRCm39) |
R260Q |
possibly damaging |
Het |
C2cd3 |
T |
A |
7: 100,065,539 (GRCm39) |
V775D |
possibly damaging |
Het |
Cacna1b |
T |
A |
2: 24,622,337 (GRCm39) |
I216F |
probably damaging |
Het |
Capn5 |
T |
A |
7: 97,780,925 (GRCm39) |
N284I |
probably damaging |
Het |
Cbr1 |
C |
A |
16: 93,406,942 (GRCm39) |
D219E |
probably benign |
Het |
Cdca2 |
C |
T |
14: 67,950,589 (GRCm39) |
R114Q |
probably damaging |
Het |
Cdh20 |
G |
A |
1: 109,922,055 (GRCm39) |
W49* |
probably null |
Het |
Cep152 |
C |
T |
2: 125,406,015 (GRCm39) |
V1506I |
probably benign |
Het |
Cfap97 |
C |
T |
8: 46,648,334 (GRCm39) |
Q537* |
probably null |
Het |
Cpsf2 |
T |
A |
12: 101,963,091 (GRCm39) |
V385E |
probably damaging |
Het |
Dse |
A |
G |
10: 34,029,584 (GRCm39) |
V502A |
possibly damaging |
Het |
Fam171a1 |
T |
A |
2: 3,224,550 (GRCm39) |
F300L |
probably benign |
Het |
Fnip1 |
T |
G |
11: 54,391,382 (GRCm39) |
N438K |
probably damaging |
Het |
Fstl5 |
C |
T |
3: 76,500,807 (GRCm39) |
T412M |
probably damaging |
Het |
Gm11938 |
T |
A |
11: 99,494,059 (GRCm39) |
Q12L |
unknown |
Het |
Hcls1 |
G |
T |
16: 36,775,678 (GRCm39) |
A171S |
probably damaging |
Het |
Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
Hydin |
G |
T |
8: 111,137,096 (GRCm39) |
C633F |
probably damaging |
Het |
Ica1 |
A |
T |
6: 8,644,145 (GRCm39) |
D381E |
probably benign |
Het |
Ift74 |
A |
G |
4: 94,541,234 (GRCm39) |
K220E |
probably benign |
Het |
Igfn1 |
A |
T |
1: 135,882,600 (GRCm39) |
D2748E |
probably benign |
Het |
Il16 |
A |
C |
7: 83,300,104 (GRCm39) |
D396E |
probably benign |
Het |
Impdh1 |
G |
T |
6: 29,205,201 (GRCm39) |
A200E |
possibly damaging |
Het |
Itga4 |
C |
T |
2: 79,144,054 (GRCm39) |
T647I |
possibly damaging |
Het |
Jpt1 |
A |
T |
11: 115,391,497 (GRCm39) |
M104K |
probably benign |
Het |
Krt73 |
C |
A |
15: 101,702,436 (GRCm39) |
A476S |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,546,828 (GRCm39) |
Y363H |
probably damaging |
Het |
Lgr4 |
C |
T |
2: 109,827,027 (GRCm39) |
P177L |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,312,608 (GRCm39) |
D2560G |
probably damaging |
Het |
Ly6m |
T |
C |
15: 74,752,532 (GRCm39) |
N48S |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,270,295 (GRCm39) |
F6617I |
probably damaging |
Het |
Mcub |
T |
A |
3: 129,763,600 (GRCm39) |
Q42L |
probably damaging |
Het |
Mfsd9 |
C |
T |
1: 40,820,700 (GRCm39) |
V150I |
possibly damaging |
Het |
Myo15b |
T |
C |
11: 115,770,478 (GRCm39) |
V96A |
probably damaging |
Het |
Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
Or10aa3 |
T |
G |
1: 173,878,244 (GRCm39) |
Y102D |
probably damaging |
Het |
Or10g6 |
T |
C |
9: 39,933,994 (GRCm39) |
F102L |
possibly damaging |
Het |
Or1r1 |
A |
G |
11: 73,875,221 (GRCm39) |
V71A |
probably benign |
Het |
Pgap6 |
T |
C |
17: 26,340,515 (GRCm39) |
V633A |
probably damaging |
Het |
Pinlyp |
T |
A |
7: 24,241,568 (GRCm39) |
I153F |
possibly damaging |
Het |
Plk2 |
A |
C |
13: 110,534,307 (GRCm39) |
M296L |
probably benign |
Het |
Plvap |
T |
C |
8: 71,960,630 (GRCm39) |
Y262C |
probably benign |
Het |
Ppfia3 |
C |
A |
7: 44,990,581 (GRCm39) |
G1066V |
probably damaging |
Het |
Prokr1 |
A |
G |
6: 87,565,842 (GRCm39) |
M1T |
probably null |
Het |
Ptgs2 |
G |
T |
1: 149,981,138 (GRCm39) |
A474S |
probably benign |
Het |
Pth2r |
A |
G |
1: 65,427,676 (GRCm39) |
T450A |
possibly damaging |
Het |
Ranbp6 |
A |
T |
19: 29,789,037 (GRCm39) |
F438L |
probably damaging |
Het |
Ripor1 |
A |
T |
8: 106,341,622 (GRCm39) |
Q102L |
probably damaging |
Het |
Rprd2 |
C |
T |
3: 95,694,686 (GRCm39) |
V116I |
probably benign |
Het |
Sacs |
T |
C |
14: 61,449,258 (GRCm39) |
V3768A |
probably damaging |
Het |
Scn8a |
T |
C |
15: 100,913,832 (GRCm39) |
Y1075H |
probably damaging |
Het |
Senp3 |
C |
T |
11: 69,569,063 (GRCm39) |
G366D |
probably damaging |
Het |
Smim1 |
T |
C |
4: 154,108,107 (GRCm39) |
|
probably benign |
Het |
Sptan1 |
A |
G |
2: 29,886,447 (GRCm39) |
I817V |
probably damaging |
Het |
Stag3 |
A |
T |
5: 138,307,461 (GRCm39) |
|
probably benign |
Het |
Stk17b |
A |
T |
1: 53,810,867 (GRCm39) |
H79Q |
probably damaging |
Het |
Svil |
A |
G |
18: 5,088,813 (GRCm39) |
K1296E |
probably damaging |
Het |
Tmem117 |
T |
A |
15: 94,992,331 (GRCm39) |
Y330* |
probably null |
Het |
Tnxb |
G |
T |
17: 34,890,917 (GRCm39) |
R420L |
probably damaging |
Het |
Trim9 |
C |
A |
12: 70,393,845 (GRCm39) |
C33F |
probably damaging |
Het |
Usp29 |
A |
C |
7: 6,965,747 (GRCm39) |
Y530S |
probably benign |
Het |
Vps26b |
T |
C |
9: 26,921,752 (GRCm39) |
T258A |
possibly damaging |
Het |
Vrtn |
C |
A |
12: 84,695,600 (GRCm39) |
H117N |
probably damaging |
Het |
Wdr33 |
C |
T |
18: 32,014,301 (GRCm39) |
H388Y |
probably damaging |
Het |
Zfp451 |
A |
T |
1: 33,821,186 (GRCm39) |
V222D |
possibly damaging |
Het |
Zfp953 |
A |
G |
13: 67,491,193 (GRCm39) |
I253T |
probably benign |
Het |
Zfy2 |
A |
G |
Y: 2,116,194 (GRCm39) |
V282A |
probably benign |
Het |
Zscan29 |
A |
T |
2: 120,999,805 (GRCm39) |
V132D |
probably damaging |
Het |
Zswim4 |
G |
T |
8: 84,963,586 (GRCm39) |
D16E |
probably benign |
Het |
|
Other mutations in Mcf2l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00402:Mcf2l
|
APN |
8 |
13,050,857 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00426:Mcf2l
|
APN |
8 |
13,034,910 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01391:Mcf2l
|
APN |
8 |
13,064,010 (GRCm39) |
splice site |
probably null |
|
IGL01795:Mcf2l
|
APN |
8 |
13,050,749 (GRCm39) |
splice site |
probably null |
|
IGL02314:Mcf2l
|
APN |
8 |
13,051,851 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02716:Mcf2l
|
APN |
8 |
13,047,277 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02985:Mcf2l
|
APN |
8 |
13,013,239 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03073:Mcf2l
|
APN |
8 |
13,050,004 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03308:Mcf2l
|
APN |
8 |
13,059,512 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03371:Mcf2l
|
APN |
8 |
13,051,298 (GRCm39) |
missense |
probably damaging |
1.00 |
P0022:Mcf2l
|
UTSW |
8 |
13,068,897 (GRCm39) |
nonsense |
probably null |
|
R0062:Mcf2l
|
UTSW |
8 |
13,056,766 (GRCm39) |
unclassified |
probably benign |
|
R0067:Mcf2l
|
UTSW |
8 |
13,063,060 (GRCm39) |
missense |
probably benign |
0.01 |
R0110:Mcf2l
|
UTSW |
8 |
13,047,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R0450:Mcf2l
|
UTSW |
8 |
13,047,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R0469:Mcf2l
|
UTSW |
8 |
13,047,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R0510:Mcf2l
|
UTSW |
8 |
13,047,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R0543:Mcf2l
|
UTSW |
8 |
13,046,728 (GRCm39) |
critical splice donor site |
probably null |
|
R0591:Mcf2l
|
UTSW |
8 |
13,068,751 (GRCm39) |
missense |
probably benign |
0.11 |
R0801:Mcf2l
|
UTSW |
8 |
13,064,020 (GRCm39) |
intron |
probably benign |
|
R0962:Mcf2l
|
UTSW |
8 |
13,051,964 (GRCm39) |
missense |
probably benign |
0.14 |
R1084:Mcf2l
|
UTSW |
8 |
13,052,645 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1794:Mcf2l
|
UTSW |
8 |
12,965,982 (GRCm39) |
missense |
probably benign |
0.33 |
R2111:Mcf2l
|
UTSW |
8 |
13,051,867 (GRCm39) |
missense |
probably damaging |
0.99 |
R2112:Mcf2l
|
UTSW |
8 |
13,051,867 (GRCm39) |
missense |
probably damaging |
0.99 |
R3785:Mcf2l
|
UTSW |
8 |
12,930,099 (GRCm39) |
missense |
probably damaging |
0.97 |
R4858:Mcf2l
|
UTSW |
8 |
13,063,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R4980:Mcf2l
|
UTSW |
8 |
13,034,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R5021:Mcf2l
|
UTSW |
8 |
13,061,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R5067:Mcf2l
|
UTSW |
8 |
12,965,959 (GRCm39) |
intron |
probably benign |
|
R5158:Mcf2l
|
UTSW |
8 |
13,059,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R5439:Mcf2l
|
UTSW |
8 |
12,976,646 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5569:Mcf2l
|
UTSW |
8 |
13,055,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R5655:Mcf2l
|
UTSW |
8 |
13,060,444 (GRCm39) |
missense |
probably damaging |
0.98 |
R5668:Mcf2l
|
UTSW |
8 |
13,063,812 (GRCm39) |
nonsense |
probably null |
|
R5753:Mcf2l
|
UTSW |
8 |
13,049,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R5808:Mcf2l
|
UTSW |
8 |
13,043,937 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
R5946:Mcf2l
|
UTSW |
8 |
13,063,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R6168:Mcf2l
|
UTSW |
8 |
13,051,823 (GRCm39) |
missense |
probably benign |
0.05 |
R6174:Mcf2l
|
UTSW |
8 |
13,063,849 (GRCm39) |
nonsense |
probably null |
|
R6212:Mcf2l
|
UTSW |
8 |
13,067,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R6270:Mcf2l
|
UTSW |
8 |
13,068,701 (GRCm39) |
missense |
probably damaging |
0.99 |
R6383:Mcf2l
|
UTSW |
8 |
12,929,912 (GRCm39) |
start gained |
probably benign |
|
R6850:Mcf2l
|
UTSW |
8 |
13,059,476 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6908:Mcf2l
|
UTSW |
8 |
13,068,919 (GRCm39) |
missense |
probably benign |
|
R7101:Mcf2l
|
UTSW |
8 |
13,063,579 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7163:Mcf2l
|
UTSW |
8 |
12,965,439 (GRCm39) |
missense |
probably benign |
0.00 |
R7203:Mcf2l
|
UTSW |
8 |
13,060,456 (GRCm39) |
missense |
probably benign |
0.09 |
R7414:Mcf2l
|
UTSW |
8 |
13,069,022 (GRCm39) |
makesense |
probably null |
|
R7553:Mcf2l
|
UTSW |
8 |
13,047,268 (GRCm39) |
missense |
probably benign |
|
R7556:Mcf2l
|
UTSW |
8 |
13,023,071 (GRCm39) |
missense |
probably damaging |
0.99 |
R7688:Mcf2l
|
UTSW |
8 |
12,998,130 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7776:Mcf2l
|
UTSW |
8 |
12,930,127 (GRCm39) |
missense |
probably benign |
|
R7947:Mcf2l
|
UTSW |
8 |
13,053,529 (GRCm39) |
splice site |
probably null |
|
R8077:Mcf2l
|
UTSW |
8 |
13,048,494 (GRCm39) |
critical splice donor site |
probably null |
|
R8083:Mcf2l
|
UTSW |
8 |
13,057,875 (GRCm39) |
splice site |
probably null |
|
R8133:Mcf2l
|
UTSW |
8 |
13,061,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R8189:Mcf2l
|
UTSW |
8 |
13,013,164 (GRCm39) |
missense |
probably damaging |
0.98 |
R8453:Mcf2l
|
UTSW |
8 |
13,034,956 (GRCm39) |
splice site |
probably null |
|
R8520:Mcf2l
|
UTSW |
8 |
12,930,089 (GRCm39) |
missense |
probably benign |
|
R8865:Mcf2l
|
UTSW |
8 |
12,930,003 (GRCm39) |
missense |
probably benign |
0.00 |
R8895:Mcf2l
|
UTSW |
8 |
13,034,330 (GRCm39) |
intron |
probably benign |
|
R9081:Mcf2l
|
UTSW |
8 |
13,068,697 (GRCm39) |
missense |
probably damaging |
0.96 |
R9143:Mcf2l
|
UTSW |
8 |
13,062,883 (GRCm39) |
splice site |
probably benign |
|
R9219:Mcf2l
|
UTSW |
8 |
13,061,383 (GRCm39) |
missense |
probably damaging |
0.98 |
R9229:Mcf2l
|
UTSW |
8 |
13,063,584 (GRCm39) |
missense |
probably benign |
0.01 |
R9335:Mcf2l
|
UTSW |
8 |
13,050,812 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9351:Mcf2l
|
UTSW |
8 |
13,050,757 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9406:Mcf2l
|
UTSW |
8 |
13,059,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R9442:Mcf2l
|
UTSW |
8 |
13,023,048 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9618:Mcf2l
|
UTSW |
8 |
13,034,320 (GRCm39) |
intron |
probably benign |
|
X0052:Mcf2l
|
UTSW |
8 |
13,068,713 (GRCm39) |
missense |
possibly damaging |
0.89 |
Z1177:Mcf2l
|
UTSW |
8 |
13,059,654 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTACAAGTGGCAGAACCCC -3'
(R):5'- GGTAGGAACACACATGGTCATG -3'
Sequencing Primer
(F):5'- CAACACTACACTGGTCTTCCC -3'
(R):5'- TCATGTCTGGGTAGGAACACAC -3'
|
Posted On |
2015-12-29 |