Incidental Mutation 'IGL01996:Asns'
| ID |
182895 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Asns
|
| Ensembl Gene |
ENSMUSG00000029752 |
| Gene Name |
asparagine synthetase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.272)
|
| Stock # |
IGL01996
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
7675169-7693209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7682378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 189
(D189G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031766]
[ENSMUST00000115542]
[ENSMUST00000126303]
[ENSMUST00000139596]
[ENSMUST00000148349]
|
| AlphaFold |
Q61024 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031766
AA Change: D189G
PolyPhen 2
Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000031766
Gene: ENSMUSG00000029752
AA Change: D189G
| 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 |
possibly damaging
Transcript: ENSMUST00000115542
AA Change: D189G
PolyPhen 2
Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000111204
Gene: ENSMUSG00000029752
AA Change: D189G
| 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: D189G
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000115415
Gene: ENSMUSG00000029752
AA Change: D189G
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
T |
C |
1: 120,078,430 (GRCm39) |
V29A |
possibly damaging |
Het |
| Adarb1 |
A |
G |
10: 77,158,051 (GRCm39) |
L132P |
probably damaging |
Het |
| Afg3l1 |
T |
G |
8: 124,228,633 (GRCm39) |
M733R |
probably damaging |
Het |
| Aox1 |
C |
T |
1: 58,121,225 (GRCm39) |
R899C |
probably benign |
Het |
| Arhgap44 |
T |
A |
11: 64,896,322 (GRCm39) |
|
probably benign |
Het |
| Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
| Ccdc138 |
T |
A |
10: 58,397,852 (GRCm39) |
L564H |
probably damaging |
Het |
| Ccdc167 |
A |
G |
17: 29,924,461 (GRCm39) |
|
probably null |
Het |
| Ccdc178 |
A |
G |
18: 22,230,813 (GRCm39) |
Y353H |
probably damaging |
Het |
| Clca3b |
A |
T |
3: 144,554,924 (GRCm39) |
S41R |
probably benign |
Het |
| Dpep3 |
T |
C |
8: 106,701,358 (GRCm39) |
N397S |
probably damaging |
Het |
| Eif1 |
T |
C |
11: 100,211,826 (GRCm39) |
I83T |
probably benign |
Het |
| Enah |
A |
T |
1: 181,784,070 (GRCm39) |
W80R |
unknown |
Het |
| F2rl1 |
C |
T |
13: 95,650,432 (GRCm39) |
C150Y |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,434,440 (GRCm39) |
R387G |
possibly damaging |
Het |
| Fsd1l |
A |
G |
4: 53,647,760 (GRCm39) |
T68A |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,740,846 (GRCm39) |
K1412R |
possibly damaging |
Het |
| Grin2b |
T |
C |
6: 135,709,584 (GRCm39) |
S1321G |
probably damaging |
Het |
| H4c11 |
G |
A |
13: 21,919,308 (GRCm39) |
G15S |
unknown |
Het |
| Itgb7 |
C |
T |
15: 102,126,412 (GRCm39) |
G508D |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,895,545 (GRCm39) |
I333T |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,934,542 (GRCm39) |
D2115G |
probably damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,442,871 (GRCm39) |
|
probably null |
Het |
| Lrpprc |
A |
G |
17: 85,080,698 (GRCm39) |
Y176H |
probably benign |
Het |
| Mier1 |
T |
C |
4: 102,984,473 (GRCm39) |
S22P |
possibly damaging |
Het |
| Mme |
A |
T |
3: 63,250,970 (GRCm39) |
N337I |
probably benign |
Het |
| Mthfd1 |
A |
G |
12: 76,350,679 (GRCm39) |
Y687C |
probably damaging |
Het |
| Nrp2 |
T |
C |
1: 62,788,419 (GRCm39) |
M373T |
probably damaging |
Het |
| Nudcd1 |
A |
T |
15: 44,269,357 (GRCm39) |
F101Y |
probably benign |
Het |
| Nup133 |
T |
A |
8: 124,673,334 (GRCm39) |
I66L |
probably benign |
Het |
| Or10j7 |
T |
C |
1: 173,011,294 (GRCm39) |
T236A |
probably benign |
Het |
| Or11j4 |
T |
G |
14: 50,631,116 (GRCm39) |
M301R |
probably damaging |
Het |
| Or1e19 |
T |
A |
11: 73,316,794 (GRCm39) |
N5I |
probably damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,261,081 (GRCm39) |
|
probably null |
Het |
| Paqr8 |
T |
C |
1: 21,005,628 (GRCm39) |
F261L |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,482,084 (GRCm39) |
E1452G |
probably damaging |
Het |
| Polh |
T |
C |
17: 46,483,927 (GRCm39) |
D446G |
probably benign |
Het |
| Psg19 |
A |
T |
7: 18,523,986 (GRCm39) |
M353K |
possibly damaging |
Het |
| Sap25 |
T |
C |
5: 137,640,080 (GRCm39) |
|
probably null |
Het |
| Sap30l |
C |
T |
11: 57,700,777 (GRCm39) |
R144* |
probably null |
Het |
| Sema6b |
C |
T |
17: 56,438,157 (GRCm39) |
V144M |
probably damaging |
Het |
| Sfmbt2 |
T |
C |
2: 10,444,837 (GRCm39) |
Y228H |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,965,230 (GRCm39) |
D946G |
probably damaging |
Het |
| Slc11a1 |
T |
A |
1: 74,415,965 (GRCm39) |
L52Q |
possibly damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,423,424 (GRCm39) |
|
probably benign |
Het |
| Tgfb1i1 |
T |
C |
7: 127,848,464 (GRCm39) |
|
probably benign |
Het |
| Tifa |
T |
C |
3: 127,590,229 (GRCm39) |
|
probably benign |
Het |
| Tomm40l |
C |
T |
1: 171,047,224 (GRCm39) |
V265M |
possibly damaging |
Het |
| Trim45 |
C |
A |
3: 100,835,425 (GRCm39) |
Y469* |
probably null |
Het |
| Ttc21a |
G |
T |
9: 119,787,182 (GRCm39) |
A730S |
probably damaging |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,001 (GRCm39) |
D184E |
possibly damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,832,222 (GRCm39) |
I189N |
possibly 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 |
|
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 |
|
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