Incidental Mutation 'IGL00705:Asnsd1'
| ID |
9090 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Asnsd1
|
| Ensembl Gene |
ENSMUSG00000026095 |
| Gene Name |
asparagine synthetase domain containing 1 |
| Synonyms |
2210409M21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
IGL00705
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
53383776-53391911 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53387610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 6
(C6S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027264]
[ENSMUST00000123519]
[ENSMUST00000144660]
[ENSMUST00000147021]
[ENSMUST00000154402]
|
| AlphaFold |
Q8BFS9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027264
AA Change: C6S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027264
Gene: ENSMUSG00000026095
AA Change: C6S
| 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 benign
Transcript: ENSMUST00000123519
AA Change: C6S
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139025
Gene: ENSMUSG00000026095
AA Change: C6S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asn_synthase
|
2 |
120 |
4.5e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136468
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144660
AA Change: C6S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139404
Gene: ENSMUSG00000099913
AA Change: C6S
| 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 damaging
Transcript: ENSMUST00000154402
AA Change: C6S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh8 |
T |
A |
9: 3,359,588 (GRCm39) |
H257Q |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,835,366 (GRCm39) |
H725Q |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,986,534 (GRCm39) |
|
probably benign |
Het |
| Cep112 |
C |
A |
11: 108,362,859 (GRCm39) |
T193K |
probably benign |
Het |
| Fgfr3 |
A |
G |
5: 33,892,484 (GRCm39) |
I720V |
possibly damaging |
Het |
| Grid1 |
T |
A |
14: 35,167,844 (GRCm39) |
I456N |
possibly damaging |
Het |
| Limch1 |
A |
T |
5: 67,150,496 (GRCm39) |
R169* |
probably null |
Het |
| Mroh9 |
A |
G |
1: 162,907,072 (GRCm39) |
S17P |
probably damaging |
Het |
| Mtpap |
A |
C |
18: 4,379,670 (GRCm39) |
N87H |
probably damaging |
Het |
| Nudt17 |
A |
G |
3: 96,614,516 (GRCm39) |
|
probably null |
Het |
| Obox6 |
A |
T |
7: 15,567,662 (GRCm39) |
S262T |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,314,357 (GRCm39) |
M343K |
probably benign |
Het |
| Rufy3 |
A |
G |
5: 88,769,209 (GRCm39) |
I226V |
probably damaging |
Het |
| Tex15 |
C |
A |
8: 34,071,620 (GRCm39) |
P2389Q |
probably damaging |
Het |
| Urb2 |
T |
A |
8: 124,763,376 (GRCm39) |
V1266D |
probably benign |
Het |
| Usp17ld |
G |
A |
7: 102,899,645 (GRCm39) |
T429I |
probably benign |
Het |
| Zfp110 |
A |
G |
7: 12,583,086 (GRCm39) |
H578R |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,723,398 (GRCm39) |
S1800R |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,954,112 (GRCm39) |
T1406A |
probably damaging |
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 |
|
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 |
|
|
R4464:Asnsd1
|
UTSW |
1 |
53,391,686 (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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation