Incidental Mutation 'IGL00555:Asnsd1'
| ID |
9086 |
| 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 # |
IGL00555
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
53383776-53391911 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53385787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 529
(N529S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027264]
[ENSMUST00000123519]
[ENSMUST00000144660]
[ENSMUST00000147021]
[ENSMUST00000154402]
|
| AlphaFold |
Q8BFS9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027264
AA Change: N529S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027264
Gene: ENSMUSG00000026095
AA Change: N529S
| 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 damaging
Transcript: ENSMUST00000123519
AA Change: N52S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139025
Gene: ENSMUSG00000026095
AA Change: N52S
| 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: N529S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139404
Gene: ENSMUSG00000099913
AA Change: N529S
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186588
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
G |
12: 21,378,110 (GRCm39) |
V692A |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,291,971 (GRCm39) |
V1154A |
probably benign |
Het |
| C1ra |
T |
C |
6: 124,499,250 (GRCm39) |
F479L |
probably benign |
Het |
| Cdh9 |
T |
C |
15: 16,823,492 (GRCm39) |
F158S |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,897,535 (GRCm39) |
M194K |
probably damaging |
Het |
| Flvcr2 |
A |
T |
12: 85,794,097 (GRCm39) |
I158F |
possibly damaging |
Het |
| Mtss1 |
A |
G |
15: 58,823,317 (GRCm39) |
|
probably null |
Het |
| Ngf |
A |
G |
3: 102,427,788 (GRCm39) |
H179R |
probably damaging |
Het |
| Plbd2 |
A |
T |
5: 120,623,875 (GRCm39) |
M549K |
possibly damaging |
Het |
| Shc3 |
A |
G |
13: 51,615,379 (GRCm39) |
S193P |
probably damaging |
Het |
| Tat |
A |
G |
8: 110,725,417 (GRCm39) |
T421A |
probably benign |
Het |
| Tbcel |
G |
T |
9: 42,354,333 (GRCm39) |
T165K |
probably benign |
Het |
| Tesl2 |
A |
G |
X: 23,824,191 (GRCm39) |
I328T |
probably benign |
Het |
| Trim44 |
A |
G |
2: 102,134,824 (GRCm39) |
*346R |
probably null |
Het |
| Uba6 |
A |
T |
5: 86,267,266 (GRCm39) |
F921I |
possibly damaging |
Het |
|
| Other mutations in Asnsd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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