Incidental Mutation 'R4464:Asnsd1'
| ID |
330257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asnsd1
|
| Ensembl Gene |
ENSMUSG00000026095 |
| Gene Name |
asparagine synthetase domain containing 1 |
| Synonyms |
2210409M21Rik |
| MMRRC Submission |
041722-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R4464 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
53383776-53391911 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 53391686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027264]
[ENSMUST00000027264]
[ENSMUST00000123519]
[ENSMUST00000123519]
[ENSMUST00000144660]
[ENSMUST00000147021]
[ENSMUST00000154402]
|
| AlphaFold |
Q8BFS9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027264
|
| SMART Domains |
Protein: ENSMUSP00000027264
Gene: ENSMUSG00000026095
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATase_7
|
59 |
162 |
2.4e-8 |
PFAM |
|
Pfam:Asn_synthase
|
305 |
388 |
6.9e-7 |
PFAM |
|
Pfam:Asn_synthase
|
505 |
619 |
2.4e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000027264
|
| SMART Domains |
Protein: ENSMUSP00000027264
Gene: ENSMUSG00000026095
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATase_7
|
59 |
162 |
2.4e-8 |
PFAM |
|
Pfam:Asn_synthase
|
305 |
388 |
6.9e-7 |
PFAM |
|
Pfam:Asn_synthase
|
505 |
619 |
2.4e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000123519
|
| SMART Domains |
Protein: ENSMUSP00000139025
Gene: ENSMUSG00000026095
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asn_synthase
|
2 |
120 |
4.5e-42 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000123519
|
| SMART Domains |
Protein: ENSMUSP00000139025
Gene: ENSMUSG00000026095
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asn_synthase
|
2 |
120 |
4.5e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136468
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144660
|
| SMART Domains |
Protein: ENSMUSP00000139404
Gene: ENSMUSG00000099913
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATase_7
|
59 |
162 |
1.4e-8 |
PFAM |
|
Pfam:Asn_synthase
|
304 |
565 |
5.6e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147021
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154402
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Abcc3 |
A |
G |
11: 94,249,612 (GRCm39) |
V1111A |
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,665,830 (GRCm39) |
R304* |
probably null |
Het |
| Aldh8a1 |
C |
A |
10: 21,264,840 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,597,003 (GRCm39) |
T1079A |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,253,470 (GRCm39) |
Y204H |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 79,991,137 (GRCm39) |
|
probably null |
Het |
| Cst12 |
G |
A |
2: 148,631,437 (GRCm39) |
V53I |
possibly damaging |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| Dennd1a |
A |
T |
2: 38,133,402 (GRCm39) |
|
probably benign |
Het |
| Gm7535 |
C |
A |
17: 18,131,924 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| Ifngr1 |
G |
A |
10: 19,473,265 (GRCm39) |
V72I |
possibly damaging |
Het |
| Kifap3 |
C |
A |
1: 163,645,464 (GRCm39) |
Q269K |
probably benign |
Het |
| Krt86 |
G |
A |
15: 101,371,795 (GRCm39) |
D122N |
probably damaging |
Het |
| Lrrcc1 |
A |
G |
3: 14,622,378 (GRCm39) |
K694E |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,826,463 (GRCm39) |
L155S |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,560,762 (GRCm39) |
N772D |
probably benign |
Het |
| Or12d17 |
C |
T |
17: 37,777,742 (GRCm39) |
S215F |
probably damaging |
Het |
| Prxl2a |
T |
A |
14: 40,719,832 (GRCm39) |
K127N |
probably damaging |
Het |
| Psg29 |
A |
T |
7: 16,944,575 (GRCm39) |
N362Y |
possibly damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,215,881 (GRCm39) |
T1325I |
probably damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,911,731 (GRCm39) |
N52S |
possibly damaging |
Het |
| Rb1 |
C |
A |
14: 73,436,638 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
T |
C |
5: 53,226,524 (GRCm39) |
L490P |
probably damaging |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| St3gal2 |
A |
G |
8: 111,694,134 (GRCm39) |
N207D |
probably benign |
Het |
| Stat1 |
T |
G |
1: 52,176,575 (GRCm39) |
D257E |
possibly damaging |
Het |
| Tkt |
A |
G |
14: 30,290,231 (GRCm39) |
T165A |
possibly damaging |
Het |
| Trim66 |
A |
T |
7: 109,076,897 (GRCm39) |
S347R |
possibly damaging |
Het |
| Zfp429 |
T |
C |
13: 67,538,617 (GRCm39) |
I276V |
probably benign |
Het |
|
| Other mutations in Asnsd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00555:Asnsd1
|
APN |
1 |
53,385,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00595:Asnsd1
|
APN |
1 |
53,386,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00705:Asnsd1
|
APN |
1 |
53,387,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01089:Asnsd1
|
APN |
1 |
53,387,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01747:Asnsd1
|
APN |
1 |
53,387,254 (GRCm39) |
nonsense |
probably null |
|
|
IGL02274:Asnsd1
|
APN |
1 |
53,386,734 (GRCm39) |
missense |
probably benign |
|
|
R2021:Asnsd1
|
UTSW |
1 |
53,386,386 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2022:Asnsd1
|
UTSW |
1 |
53,386,386 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2126:Asnsd1
|
UTSW |
1 |
53,386,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2174:Asnsd1
|
UTSW |
1 |
53,386,760 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4120:Asnsd1
|
UTSW |
1 |
53,387,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4435:Asnsd1
|
UTSW |
1 |
53,387,232 (GRCm39) |
splice site |
probably null |
|
|
R4499:Asnsd1
|
UTSW |
1 |
53,387,129 (GRCm39) |
missense |
probably benign |
|
|
R4622:Asnsd1
|
UTSW |
1 |
53,387,378 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5090:Asnsd1
|
UTSW |
1 |
53,391,563 (GRCm39) |
unclassified |
probably benign |
|
|
R5832:Asnsd1
|
UTSW |
1 |
53,386,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5891:Asnsd1
|
UTSW |
1 |
53,387,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6215:Asnsd1
|
UTSW |
1 |
53,387,187 (GRCm39) |
splice site |
probably null |
|
|
R6217:Asnsd1
|
UTSW |
1 |
53,387,187 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6353:Asnsd1
|
UTSW |
1 |
53,386,938 (GRCm39) |
missense |
probably benign |
|
|
R6405:Asnsd1
|
UTSW |
1 |
53,387,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6913:Asnsd1
|
UTSW |
1 |
53,387,390 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7217:Asnsd1
|
UTSW |
1 |
53,387,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7570:Asnsd1
|
UTSW |
1 |
53,387,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7589:Asnsd1
|
UTSW |
1 |
53,387,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7716:Asnsd1
|
UTSW |
1 |
53,386,902 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8314:Asnsd1
|
UTSW |
1 |
53,385,814 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8351:Asnsd1
|
UTSW |
1 |
53,386,172 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8990:Asnsd1
|
UTSW |
1 |
53,385,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9262:Asnsd1
|
UTSW |
1 |
53,383,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGACTGAGCAACACATCTG -3'
(R):5'- ATTTTGCAGTGGAGCACAACTC -3'
Sequencing Primer
(F):5'- CACTTTTTTTCAGGGGACA -3'
(R):5'- GCAGTGGAGCACAACTCTTAATTCG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation