Incidental Mutation 'IGL03341:Asns'
| ID |
417220 |
| 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 # |
IGL03341
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
7675169-7693209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 7682002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 236
(R236L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031766]
[ENSMUST00000115542]
[ENSMUST00000126303]
[ENSMUST00000139596]
[ENSMUST00000148349]
|
| AlphaFold |
Q61024 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031766
AA Change: R236L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031766
Gene: ENSMUSG00000029752
AA Change: R236L
| 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 damaging
Transcript: ENSMUST00000115542
AA Change: R236L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111204
Gene: ENSMUSG00000029752
AA Change: R236L
| 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
|
| SMART Domains |
Protein: ENSMUSP00000115415
Gene: ENSMUSG00000029752
| 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 |
noncoding transcript
Transcript: ENSMUST00000133972
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139596
|
| SMART Domains |
Protein: ENSMUSP00000120489
Gene: ENSMUSG00000029752
| 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 |
noncoding transcript
Transcript: ENSMUST00000140097
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148349
|
| SMART Domains |
Protein: ENSMUSP00000118003
Gene: ENSMUSG00000029752
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
C |
T |
2: 35,265,906 (GRCm39) |
V255I |
possibly damaging |
Het |
| Acvrl1 |
T |
A |
15: 101,035,477 (GRCm39) |
N334K |
probably damaging |
Het |
| Arhgef5 |
T |
A |
6: 43,257,585 (GRCm39) |
I1284N |
probably damaging |
Het |
| Barx2 |
T |
C |
9: 31,770,090 (GRCm39) |
E146G |
probably damaging |
Het |
| Ccl7 |
A |
G |
11: 81,936,661 (GRCm39) |
S18G |
probably benign |
Het |
| Cilp |
A |
T |
9: 65,185,284 (GRCm39) |
T460S |
probably benign |
Het |
| Cpa5 |
A |
G |
6: 30,626,290 (GRCm39) |
Y217C |
possibly damaging |
Het |
| Dgkh |
T |
A |
14: 78,832,931 (GRCm39) |
|
probably benign |
Het |
| Dmc1 |
T |
C |
15: 79,446,746 (GRCm39) |
T276A |
probably benign |
Het |
| Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
| Gstm2 |
T |
C |
3: 107,891,521 (GRCm39) |
Y93C |
possibly damaging |
Het |
| Hc |
A |
T |
2: 34,893,389 (GRCm39) |
I1274N |
probably damaging |
Het |
| Htra1 |
A |
G |
7: 130,583,444 (GRCm39) |
I355V |
probably benign |
Het |
| Ifi214 |
G |
T |
1: 173,354,082 (GRCm39) |
T196K |
possibly damaging |
Het |
| Ms4a5 |
T |
C |
19: 11,256,742 (GRCm39) |
T52A |
probably benign |
Het |
| Mtx3 |
T |
C |
13: 92,984,391 (GRCm39) |
F191L |
probably damaging |
Het |
| Padi2 |
A |
G |
4: 140,654,424 (GRCm39) |
M192V |
probably benign |
Het |
| Pdcl3 |
C |
A |
1: 39,034,976 (GRCm39) |
Q178K |
probably benign |
Het |
| Rap1gap2 |
G |
A |
11: 74,326,540 (GRCm39) |
R176W |
probably damaging |
Het |
| Ska2 |
A |
G |
11: 87,006,990 (GRCm39) |
T32A |
probably benign |
Het |
| Slc6a18 |
G |
T |
13: 73,826,042 (GRCm39) |
Q3K |
probably benign |
Het |
| Slc7a14 |
T |
C |
3: 31,292,919 (GRCm39) |
Y122C |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,070,308 (GRCm39) |
K2493* |
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,790,850 (GRCm39) |
N628K |
probably benign |
Het |
| Ttc17 |
T |
A |
2: 94,205,566 (GRCm39) |
N260I |
probably damaging |
Het |
| Ttc7b |
T |
C |
12: 100,291,994 (GRCm39) |
I193V |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,542,583 (GRCm39) |
T25141S |
possibly damaging |
Het |
| Zfhx4 |
A |
C |
3: 5,476,910 (GRCm39) |
Q3150P |
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 |
|
|
IGL03263:Asns
|
APN |
6 |
7,689,404 (GRCm39) |
missense |
probably benign |
0.07 |
|
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