Incidental Mutation 'IGL02058:Asns'
| ID |
185297 |
| 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 # |
IGL02058
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
7675169-7693209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7685184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 158
(C158R)
|
| 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: C158R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031766
Gene: ENSMUSG00000029752
AA Change: C158R
| 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: C158R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111204
Gene: ENSMUSG00000029752
AA Change: C158R
| 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 damaging
Transcript: ENSMUST00000126303
AA Change: C158R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115415
Gene: ENSMUSG00000029752
AA Change: C158R
| 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 damaging
Transcript: ENSMUST00000139596
AA Change: C158R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120489
Gene: ENSMUSG00000029752
AA Change: C158R
| 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
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
A |
2: 69,073,842 (GRCm39) |
A1228S |
probably damaging |
Het |
| Adamts12 |
G |
A |
15: 11,215,696 (GRCm39) |
R239K |
probably benign |
Het |
| Akap6 |
A |
G |
12: 53,187,338 (GRCm39) |
D1584G |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,753,540 (GRCm39) |
L714P |
probably damaging |
Het |
| Ccdc126 |
G |
T |
6: 49,311,134 (GRCm39) |
E47D |
probably benign |
Het |
| Cemip |
T |
C |
7: 83,646,500 (GRCm39) |
S183G |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,176,321 (GRCm39) |
|
probably benign |
Het |
| Cyp11b2 |
G |
T |
15: 74,725,038 (GRCm39) |
N270K |
probably benign |
Het |
| Ephx2 |
A |
G |
14: 66,341,173 (GRCm39) |
|
probably null |
Het |
| Fcho2 |
G |
A |
13: 98,867,414 (GRCm39) |
T683I |
probably damaging |
Het |
| Grm7 |
G |
A |
6: 111,335,278 (GRCm39) |
C563Y |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,579,932 (GRCm39) |
N1935S |
probably benign |
Het |
| Hus1b |
A |
G |
13: 31,130,900 (GRCm39) |
L253S |
probably benign |
Het |
| Kmt5b |
T |
C |
19: 3,843,181 (GRCm39) |
Y93H |
probably damaging |
Het |
| Krt73 |
A |
T |
15: 101,710,456 (GRCm39) |
S93T |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,727,306 (GRCm39) |
V917A |
probably benign |
Het |
| Map2k6 |
C |
T |
11: 110,383,409 (GRCm39) |
T106M |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,235,463 (GRCm39) |
S664P |
probably damaging |
Het |
| Nmt1 |
C |
T |
11: 102,943,116 (GRCm39) |
T157I |
probably benign |
Het |
| Nup160 |
T |
C |
2: 90,560,051 (GRCm39) |
S1259P |
probably damaging |
Het |
| Pak1 |
C |
T |
7: 97,560,322 (GRCm39) |
A523V |
probably damaging |
Het |
| Parpbp |
A |
C |
10: 87,979,898 (GRCm39) |
S19R |
probably benign |
Het |
| Pdzd2 |
G |
T |
15: 12,376,382 (GRCm39) |
T1251N |
possibly damaging |
Het |
| Phaf1 |
T |
A |
8: 105,966,341 (GRCm39) |
I105N |
probably damaging |
Het |
| Pitpnm3 |
A |
T |
11: 72,010,965 (GRCm39) |
N22K |
probably benign |
Het |
| Pkn1 |
G |
T |
8: 84,407,854 (GRCm39) |
C418* |
probably null |
Het |
| Pkn2 |
A |
G |
3: 142,509,424 (GRCm39) |
F723L |
probably damaging |
Het |
| Pkp4 |
C |
T |
2: 59,142,073 (GRCm39) |
R459* |
probably null |
Het |
| Prex1 |
A |
C |
2: 166,427,103 (GRCm39) |
S871A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,002,502 (GRCm39) |
T1531A |
probably benign |
Het |
| Rad1 |
C |
A |
15: 10,493,361 (GRCm39) |
Q263K |
probably benign |
Het |
| Sh2d6 |
C |
A |
6: 72,490,961 (GRCm39) |
G307* |
probably null |
Het |
| Slc52a3 |
T |
A |
2: 151,847,811 (GRCm39) |
N306K |
probably damaging |
Het |
| Spock3 |
A |
T |
8: 63,698,232 (GRCm39) |
R195* |
probably null |
Het |
| Stil |
A |
G |
4: 114,871,359 (GRCm39) |
S310G |
probably benign |
Het |
| Wbp1l |
T |
A |
19: 46,640,959 (GRCm39) |
C80* |
probably null |
Het |
| Wnt2b |
A |
G |
3: 104,854,408 (GRCm39) |
V350A |
probably benign |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation