Incidental Mutation 'R4499:Asnsd1'
ID |
331728 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asnsd1
|
Ensembl Gene |
ENSMUSG00000026095 |
Gene Name |
asparagine synthetase domain containing 1 |
Synonyms |
2210409M21Rik |
MMRRC Submission |
041752-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R4499 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
53383776-53391911 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 53387129 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 166
(V166A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027264]
[ENSMUST00000123519]
[ENSMUST00000144660]
[ENSMUST00000147021]
[ENSMUST00000154402]
|
AlphaFold |
Q8BFS9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027264
AA Change: V166A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027264 Gene: ENSMUSG00000026095 AA Change: V166A
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 benign
Transcript: ENSMUST00000144660
AA Change: V166A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139404 Gene: ENSMUSG00000099913 AA Change: V166A
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
92% (47/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
A |
13: 77,464,646 (GRCm39) |
W948R |
possibly damaging |
Het |
Ache |
A |
C |
5: 137,290,194 (GRCm39) |
M508L |
probably damaging |
Het |
Adgrb2 |
A |
T |
4: 129,886,454 (GRCm39) |
E198V |
probably damaging |
Het |
Adgrl4 |
A |
G |
3: 151,216,422 (GRCm39) |
N535S |
possibly damaging |
Het |
Agbl3 |
T |
C |
6: 34,834,533 (GRCm39) |
S906P |
probably benign |
Het |
Akna |
T |
C |
4: 63,313,278 (GRCm39) |
T282A |
probably benign |
Het |
Arfgef2 |
G |
A |
2: 166,727,734 (GRCm39) |
V1561M |
probably damaging |
Het |
Arfgef3 |
T |
C |
10: 18,484,091 (GRCm39) |
D1388G |
possibly damaging |
Het |
Bank1 |
T |
C |
3: 135,990,004 (GRCm39) |
I29V |
probably benign |
Het |
Bpifb5 |
A |
T |
2: 154,082,678 (GRCm39) |
I484F |
possibly damaging |
Het |
Camta2 |
T |
C |
11: 70,565,512 (GRCm39) |
E788G |
probably damaging |
Het |
Ccdc18 |
T |
G |
5: 108,376,826 (GRCm39) |
S1422R |
possibly damaging |
Het |
Cdc42bpg |
C |
T |
19: 6,370,585 (GRCm39) |
P1226L |
possibly damaging |
Het |
Cep126 |
T |
C |
9: 8,101,589 (GRCm39) |
N315S |
possibly damaging |
Het |
Dcaf4 |
T |
A |
12: 83,586,134 (GRCm39) |
L367Q |
probably damaging |
Het |
Dcc |
A |
T |
18: 71,680,388 (GRCm39) |
V616D |
probably benign |
Het |
Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
Dgkq |
C |
G |
5: 108,797,527 (GRCm39) |
E788D |
possibly damaging |
Het |
Dpep2 |
T |
C |
8: 106,712,114 (GRCm39) |
E282G |
probably benign |
Het |
Gm8221 |
T |
A |
15: 77,510,245 (GRCm39) |
|
noncoding transcript |
Het |
Ice1 |
T |
C |
13: 70,757,146 (GRCm39) |
S280G |
possibly damaging |
Het |
Lrrc2 |
A |
T |
9: 110,791,713 (GRCm39) |
Q155L |
probably benign |
Het |
Mesd |
G |
A |
7: 83,547,185 (GRCm39) |
R216Q |
probably benign |
Het |
Msh6 |
T |
A |
17: 88,287,697 (GRCm39) |
N112K |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,781,778 (GRCm39) |
E307G |
probably benign |
Het |
Nod1 |
T |
A |
6: 54,920,981 (GRCm39) |
N446Y |
probably damaging |
Het |
Nrap |
G |
A |
19: 56,339,913 (GRCm39) |
T787I |
probably damaging |
Het |
P2ry12 |
A |
G |
3: 59,125,078 (GRCm39) |
I199T |
probably damaging |
Het |
Prr11 |
T |
G |
11: 86,989,533 (GRCm39) |
K279N |
possibly damaging |
Het |
Psg25 |
C |
T |
7: 18,258,816 (GRCm39) |
E287K |
possibly damaging |
Het |
Rusc1 |
T |
C |
3: 88,999,615 (GRCm39) |
S56G |
probably benign |
Het |
Slc16a7 |
T |
C |
10: 125,064,056 (GRCm39) |
N427S |
probably damaging |
Het |
Slc47a1 |
T |
A |
11: 61,250,355 (GRCm39) |
I341L |
probably benign |
Het |
Slc9a8 |
T |
A |
2: 167,266,113 (GRCm39) |
L30Q |
probably benign |
Het |
Ssh2 |
T |
A |
11: 77,283,893 (GRCm39) |
L49* |
probably null |
Het |
Stard9 |
T |
A |
2: 120,530,722 (GRCm39) |
D2326E |
probably benign |
Het |
Thbs1 |
T |
C |
2: 117,950,431 (GRCm39) |
I688T |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,746,822 (GRCm39) |
E4742D |
probably benign |
Het |
Vps37b |
T |
C |
5: 124,145,689 (GRCm39) |
I117V |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,343,782 (GRCm39) |
M2008L |
probably benign |
Het |
Zfp1005 |
T |
G |
2: 150,111,362 (GRCm39) |
V684G |
possibly damaging |
Het |
Zfp53 |
A |
G |
17: 21,729,497 (GRCm39) |
E510G |
probably damaging |
Het |
Zswim8 |
T |
A |
14: 20,764,365 (GRCm39) |
S578R |
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 |
|
R4464:Asnsd1
|
UTSW |
1 |
53,391,686 (GRCm39) |
splice site |
probably null |
|
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'- AATCCTGCTGGAGTCTGAGTC -3'
(R):5'- AGATAATGACACCCAGGTTATGTTC -3'
Sequencing Primer
(F):5'- CTGGAGTCTGAGTCAGGTCATTAC -3'
(R):5'- AGCCTTTCTGCCTGTAAGAATGAGTC -3'
|
Posted On |
2015-07-21 |