Incidental Mutation 'IGL03263:Asns'
| ID |
414966 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Asns
|
| Ensembl Gene |
ENSMUSG00000029752 |
| Gene Name |
asparagine synthetase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
IGL03263
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
7675169-7693209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 7689404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 33
(R33C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031766]
[ENSMUST00000115542]
[ENSMUST00000126303]
[ENSMUST00000139596]
[ENSMUST00000148349]
|
| AlphaFold |
Q61024 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031766
AA Change: R33C
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000031766
Gene: ENSMUSG00000029752
AA Change: R33C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATase_6
|
29 |
160 |
4.3e-21 |
PFAM |
|
Pfam:GATase_7
|
47 |
166 |
9.1e-26 |
PFAM |
|
Pfam:DUF3700
|
68 |
178 |
5.5e-6 |
PFAM |
|
Pfam:GATase_2
|
91 |
161 |
3.3e-5 |
PFAM |
|
Pfam:Asn_synthase
|
234 |
467 |
1.7e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115542
AA Change: R33C
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000111204
Gene: ENSMUSG00000029752
AA Change: R33C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATase_6
|
29 |
160 |
1.2e-19 |
PFAM |
|
Pfam:GATase_7
|
47 |
166 |
4.8e-25 |
PFAM |
|
Pfam:DUF3700
|
64 |
180 |
3.3e-6 |
PFAM |
|
Pfam:Asn_synthase
|
234 |
390 |
2.4e-46 |
PFAM |
|
Pfam:Asn_synthase
|
382 |
547 |
1.5e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126303
AA Change: R33C
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000115415
Gene: ENSMUSG00000029752
AA Change: R33C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATase_6
|
28 |
160 |
1.3e-24 |
PFAM |
|
Pfam:GATase_7
|
47 |
166 |
3.1e-29 |
PFAM |
|
Pfam:DUF3700
|
67 |
180 |
6.3e-10 |
PFAM |
|
Pfam:GATase_2
|
89 |
161 |
1.4e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139596
AA Change: R33C
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000120489
Gene: ENSMUSG00000029752
AA Change: R33C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATase_6
|
26 |
157 |
7e-25 |
PFAM |
|
Pfam:GATase_7
|
47 |
157 |
1e-27 |
PFAM |
|
Pfam:DUF3700
|
66 |
158 |
5.7e-9 |
PFAM |
|
Pfam:GATase_2
|
89 |
158 |
1.8e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148349
AA Change: R33C
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000118003
Gene: ENSMUSG00000029752
AA Change: R33C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATase_6
|
24 |
127 |
1.4e-17 |
PFAM |
|
Pfam:GATase_7
|
47 |
127 |
2.6e-18 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a hypomophic allele exhibit structural brain abnormalities, including enlarged ventricles and reduced cortical thickness, and deficits in short- and long-term memory. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
A |
5: 138,562,499 (GRCm39) |
I81F |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,351,754 (GRCm39) |
H1164Y |
probably damaging |
Het |
| Adamts5 |
A |
T |
16: 85,666,830 (GRCm39) |
V554E |
probably damaging |
Het |
| BC051076 |
T |
G |
5: 88,111,977 (GRCm39) |
|
noncoding transcript |
Het |
| Bcas3 |
C |
T |
11: 85,712,948 (GRCm39) |
|
probably benign |
Het |
| Bpifb1 |
A |
G |
2: 154,057,226 (GRCm39) |
M395V |
probably benign |
Het |
| Cdcp1 |
C |
A |
9: 123,009,152 (GRCm39) |
V509L |
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,865,926 (GRCm39) |
T277A |
possibly damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Clca4a |
T |
A |
3: 144,672,192 (GRCm39) |
E250V |
probably damaging |
Het |
| Cplx4 |
T |
C |
18: 66,100,559 (GRCm39) |
D79G |
probably benign |
Het |
| Dcaf11 |
A |
G |
14: 55,802,949 (GRCm39) |
D246G |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,420,207 (GRCm39) |
|
probably null |
Het |
| Dock3 |
A |
T |
9: 106,807,330 (GRCm39) |
|
probably benign |
Het |
| Fam170a |
T |
C |
18: 50,413,588 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
T |
A |
7: 129,782,149 (GRCm39) |
M423L |
probably benign |
Het |
| Gabra2 |
A |
G |
5: 71,130,836 (GRCm39) |
F331L |
probably damaging |
Het |
| Galnt18 |
C |
T |
7: 111,119,321 (GRCm39) |
R400Q |
probably damaging |
Het |
| H2-M11 |
A |
T |
17: 36,859,805 (GRCm39) |
Q266L |
probably damaging |
Het |
| Igf2bp1 |
A |
T |
11: 95,857,499 (GRCm39) |
V502D |
probably damaging |
Het |
| Ik |
A |
G |
18: 36,881,699 (GRCm39) |
N111S |
probably damaging |
Het |
| Intu |
T |
A |
3: 40,627,027 (GRCm39) |
Y269* |
probably null |
Het |
| Krt82 |
T |
C |
15: 101,450,307 (GRCm39) |
Y463C |
probably benign |
Het |
| Lrig1 |
A |
G |
6: 94,588,628 (GRCm39) |
M507T |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,504,525 (GRCm39) |
V2481A |
possibly damaging |
Het |
| Mag |
T |
G |
7: 30,598,953 (GRCm39) |
|
probably null |
Het |
| Map7 |
T |
A |
10: 20,121,068 (GRCm39) |
Y121* |
probably null |
Het |
| Marchf6 |
A |
G |
15: 31,486,508 (GRCm39) |
I349T |
probably benign |
Het |
| Mas1 |
A |
G |
17: 13,060,451 (GRCm39) |
V324A |
possibly damaging |
Het |
| Nckap1l |
T |
C |
15: 103,372,832 (GRCm39) |
W259R |
probably damaging |
Het |
| Nhsl1 |
T |
A |
10: 18,373,827 (GRCm39) |
Y164* |
probably null |
Het |
| Or52e5 |
T |
A |
7: 104,719,209 (GRCm39) |
H178Q |
probably damaging |
Het |
| Or8b38 |
A |
T |
9: 37,973,009 (GRCm39) |
Y131F |
probably damaging |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,059 (GRCm39) |
D344G |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,731,824 (GRCm39) |
V3442A |
unknown |
Het |
| Polr3c |
C |
T |
3: 96,621,567 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2d |
C |
T |
7: 138,474,651 (GRCm39) |
R11* |
probably null |
Het |
| Ptgfr |
T |
A |
3: 151,541,500 (GRCm39) |
M3L |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,601,903 (GRCm39) |
S741G |
probably benign |
Het |
| Rif1 |
T |
C |
2: 51,980,273 (GRCm39) |
V490A |
probably damaging |
Het |
| Samd7 |
T |
A |
3: 30,816,302 (GRCm39) |
H349Q |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,302,482 (GRCm39) |
N199S |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,667,305 (GRCm39) |
K794N |
possibly damaging |
Het |
| Spta1 |
C |
T |
1: 174,041,484 (GRCm39) |
A1316V |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,240,575 (GRCm39) |
E410G |
probably benign |
Het |
| Washc2 |
T |
A |
6: 116,215,084 (GRCm39) |
|
probably benign |
Het |
| Wdr72 |
A |
C |
9: 74,064,711 (GRCm39) |
Y581S |
probably damaging |
Het |
| Zdhhc17 |
T |
C |
10: 110,796,877 (GRCm39) |
D298G |
probably damaging |
Het |
|
| Other mutations in Asns |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Asns
|
APN |
6 |
7,680,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00656:Asns
|
APN |
6 |
7,680,215 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01534:Asns
|
APN |
6 |
7,675,397 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01996:Asns
|
APN |
6 |
7,682,378 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02058:Asns
|
APN |
6 |
7,685,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02311:Asns
|
APN |
6 |
7,676,233 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02367:Asns
|
APN |
6 |
7,685,411 (GRCm39) |
splice site |
probably benign |
|
|
IGL03341:Asns
|
APN |
6 |
7,682,002 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4445001:Asns
|
UTSW |
6 |
7,689,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0034:Asns
|
UTSW |
6 |
7,676,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0034:Asns
|
UTSW |
6 |
7,676,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0050:Asns
|
UTSW |
6 |
7,676,019 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0627:Asns
|
UTSW |
6 |
7,675,516 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1075:Asns
|
UTSW |
6 |
7,676,076 (GRCm39) |
nonsense |
probably null |
|
|
R1591:Asns
|
UTSW |
6 |
7,678,007 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2047:Asns
|
UTSW |
6 |
7,680,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2232:Asns
|
UTSW |
6 |
7,689,316 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2907:Asns
|
UTSW |
6 |
7,675,506 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3907:Asns
|
UTSW |
6 |
7,682,270 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4373:Asns
|
UTSW |
6 |
7,677,978 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4438:Asns
|
UTSW |
6 |
7,675,320 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4660:Asns
|
UTSW |
6 |
7,678,012 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4784:Asns
|
UTSW |
6 |
7,678,029 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5655:Asns
|
UTSW |
6 |
7,685,309 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5752:Asns
|
UTSW |
6 |
7,689,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5863:Asns
|
UTSW |
6 |
7,675,443 (GRCm39) |
nonsense |
probably null |
|
|
R5864:Asns
|
UTSW |
6 |
7,675,443 (GRCm39) |
nonsense |
probably null |
|
|
R5953:Asns
|
UTSW |
6 |
7,682,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6773:Asns
|
UTSW |
6 |
7,676,284 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6789:Asns
|
UTSW |
6 |
7,675,344 (GRCm39) |
missense |
probably benign |
|
|
R7389:Asns
|
UTSW |
6 |
7,689,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7524:Asns
|
UTSW |
6 |
7,677,259 (GRCm39) |
splice site |
probably null |
|
|
R7783:Asns
|
UTSW |
6 |
7,677,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7949:Asns
|
UTSW |
6 |
7,685,328 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8722:Asns
|
UTSW |
6 |
7,676,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9405:Asns
|
UTSW |
6 |
7,689,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9663:Asns
|
UTSW |
6 |
7,680,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9697:Asns
|
UTSW |
6 |
7,689,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9798:Asns
|
UTSW |
6 |
7,689,395 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2016-08-02 |
Incidental Mutation