Incidental Mutation 'R7217:Asnsd1'
ID |
561519 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asnsd1
|
Ensembl Gene |
ENSMUSG00000026095 |
Gene Name |
asparagine synthetase domain containing 1 |
Synonyms |
2210409M21Rik |
MMRRC Submission |
045289-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.181)
|
Stock # |
R7217 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
53383776-53391911 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53387352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 92
(T92A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027264
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027264]
[ENSMUST00000123519]
[ENSMUST00000144660]
[ENSMUST00000147021]
[ENSMUST00000154402]
|
AlphaFold |
Q8BFS9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027264
AA Change: T92A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027264 Gene: ENSMUSG00000026095 AA Change: T92A
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 |
probably damaging
Transcript: ENSMUST00000144660
AA Change: T92A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139404 Gene: ENSMUSG00000099913 AA Change: T92A
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 |
0.2521 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
91% (40/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
C |
A |
5: 138,645,188 (GRCm39) |
H358N |
probably benign |
Het |
Abcg3 |
A |
G |
5: 105,087,094 (GRCm39) |
F543L |
possibly damaging |
Het |
Atg2a |
G |
T |
19: 6,303,471 (GRCm39) |
|
probably null |
Het |
Aven |
T |
A |
2: 112,461,191 (GRCm39) |
N327K |
possibly damaging |
Het |
Brd9 |
T |
C |
13: 74,087,063 (GRCm39) |
V116A |
probably damaging |
Het |
Car14 |
A |
G |
3: 95,806,629 (GRCm39) |
S250P |
probably damaging |
Het |
Ccdc138 |
T |
C |
10: 58,345,422 (GRCm39) |
I138T |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,226,938 (GRCm39) |
Y2717H |
probably damaging |
Het |
Eno1b |
C |
A |
18: 48,180,746 (GRCm39) |
T308K |
probably damaging |
Het |
Epha3 |
T |
C |
16: 63,372,857 (GRCm39) |
T949A |
probably benign |
Het |
Fcrl5 |
C |
T |
3: 87,351,081 (GRCm39) |
T197M |
probably damaging |
Het |
Foxp2 |
A |
T |
6: 15,416,023 (GRCm39) |
Q664L |
unknown |
Het |
Fsip2 |
A |
T |
2: 82,819,412 (GRCm39) |
K5048N |
possibly damaging |
Het |
Gcnt4 |
T |
C |
13: 97,082,818 (GRCm39) |
L38P |
probably damaging |
Het |
Gpr68 |
A |
G |
12: 100,845,058 (GRCm39) |
V162A |
possibly damaging |
Het |
Grin3a |
A |
T |
4: 49,770,741 (GRCm39) |
M677K |
possibly damaging |
Het |
Grm7 |
A |
G |
6: 111,335,785 (GRCm39) |
Y732C |
probably damaging |
Het |
H2-T15 |
A |
C |
17: 36,367,235 (GRCm39) |
M329R |
probably benign |
Het |
Hoxb4 |
A |
G |
11: 96,209,906 (GRCm39) |
E104G |
probably benign |
Het |
Kat7 |
A |
G |
11: 95,182,390 (GRCm39) |
S237P |
possibly damaging |
Het |
Kif13b |
T |
C |
14: 65,010,517 (GRCm39) |
V1272A |
probably damaging |
Het |
Kif20a |
T |
A |
18: 34,762,613 (GRCm39) |
H495Q |
probably benign |
Het |
Lama1 |
A |
T |
17: 68,071,668 (GRCm39) |
T852S |
|
Het |
Mep1b |
T |
A |
18: 21,226,600 (GRCm39) |
D487E |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,305,911 (GRCm39) |
T656A |
probably damaging |
Het |
Mlh3 |
A |
G |
12: 85,313,481 (GRCm39) |
W902R |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,555,372 (GRCm39) |
Y3640* |
probably null |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Pkd1l2 |
A |
G |
8: 117,722,536 (GRCm39) |
I2424T |
probably benign |
Het |
Prl8a2 |
A |
G |
13: 27,534,998 (GRCm39) |
E91G |
possibly damaging |
Het |
Prpf18 |
A |
G |
2: 4,650,435 (GRCm39) |
V65A |
probably benign |
Het |
Pxmp2 |
A |
G |
5: 110,433,771 (GRCm39) |
V34A |
probably damaging |
Het |
Ranbp2 |
T |
G |
10: 58,287,839 (GRCm39) |
Y36D |
probably damaging |
Het |
Rbm25 |
G |
A |
12: 83,710,991 (GRCm39) |
R368Q |
unknown |
Het |
Rims2 |
C |
A |
15: 39,339,885 (GRCm39) |
L860M |
probably damaging |
Het |
Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
Scn8a |
A |
T |
15: 100,868,108 (GRCm39) |
M318L |
probably benign |
Het |
Slc35b2 |
A |
G |
17: 45,875,955 (GRCm39) |
T55A |
probably benign |
Het |
Trnp1 |
T |
C |
4: 133,225,416 (GRCm39) |
E118G |
possibly damaging |
Het |
Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,049,785 (GRCm39) |
H1680Q |
probably damaging |
Het |
Zfp131 |
A |
G |
13: 120,237,377 (GRCm39) |
I327T |
probably damaging |
Het |
Zfp729b |
A |
G |
13: 67,743,367 (GRCm39) |
V66A |
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 |
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 |
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'- AAGGCAGAAACTCTTGCCC -3'
(R):5'- TGCTGCATAATCTTAGACGGC -3'
Sequencing Primer
(F):5'- ACTCTTGCCCAGATTACTAAACTG -3'
(R):5'- CATAATCTTAGACGGCGGGGC -3'
|
Posted On |
2019-06-26 |