Incidental Mutation 'IGL01747:Asnsd1'
ID |
153038 |
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 # |
IGL01747
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
53383776-53391911 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 53387254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 124
(Y124*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027264]
[ENSMUST00000123519]
[ENSMUST00000144660]
[ENSMUST00000147021]
[ENSMUST00000154402]
|
AlphaFold |
Q8BFS9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027264
AA Change: Y124*
|
SMART Domains |
Protein: ENSMUSP00000027264 Gene: ENSMUSG00000026095 AA Change: Y124*
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
|
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 null
Transcript: ENSMUST00000144660
AA Change: Y124*
|
SMART Domains |
Protein: ENSMUSP00000139404 Gene: ENSMUSG00000099913 AA Change: Y124*
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833439L19Rik |
A |
G |
13: 54,704,338 (GRCm39) |
|
probably null |
Het |
Abca14 |
A |
G |
7: 119,877,310 (GRCm39) |
N986S |
probably benign |
Het |
Adamts17 |
G |
A |
7: 66,701,759 (GRCm39) |
G702D |
probably damaging |
Het |
Aox3 |
G |
A |
1: 58,198,817 (GRCm39) |
V671M |
probably damaging |
Het |
Astn2 |
A |
T |
4: 65,712,855 (GRCm39) |
M595K |
probably benign |
Het |
Col2a1 |
T |
C |
15: 97,889,273 (GRCm39) |
|
probably benign |
Het |
Dhrs2 |
A |
T |
14: 55,472,120 (GRCm39) |
I4L |
probably benign |
Het |
Fbxo4 |
A |
T |
15: 3,995,237 (GRCm39) |
L369* |
probably null |
Het |
Gpbp1 |
G |
A |
13: 111,589,584 (GRCm39) |
R129C |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 40,750,697 (GRCm39) |
I2956L |
probably damaging |
Het |
Myo16 |
C |
T |
8: 10,654,877 (GRCm39) |
T1843I |
probably damaging |
Het |
Or1j14 |
T |
C |
2: 36,417,844 (GRCm39) |
L140P |
probably damaging |
Het |
Or8k3b |
T |
C |
2: 86,521,045 (GRCm39) |
I91M |
possibly damaging |
Het |
Pcdhb2 |
T |
G |
18: 37,429,356 (GRCm39) |
V86G |
probably damaging |
Het |
Pskh1 |
T |
C |
8: 106,639,836 (GRCm39) |
M172T |
probably damaging |
Het |
Slc38a10 |
T |
C |
11: 120,025,600 (GRCm39) |
|
probably benign |
Het |
Spry2 |
C |
T |
14: 106,130,488 (GRCm39) |
D233N |
probably damaging |
Het |
Tmem163 |
T |
A |
1: 127,596,457 (GRCm39) |
R84W |
probably damaging |
Het |
Trappc11 |
T |
C |
8: 47,972,656 (GRCm39) |
I306V |
probably benign |
Het |
Virma |
T |
C |
4: 11,526,877 (GRCm39) |
L1092P |
probably damaging |
Het |
Vmn2r98 |
A |
G |
17: 19,286,702 (GRCm39) |
Y400C |
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 |
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 |
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 |
2014-02-04 |