Incidental Mutation 'R2047:Asns'
ID |
222088 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asns
|
Ensembl Gene |
ENSMUSG00000029752 |
Gene Name |
asparagine synthetase |
Synonyms |
|
MMRRC Submission |
040054-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.272)
|
Stock # |
R2047 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
7675169-7693209 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 7680093 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 341
(A341E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111204
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031766]
[ENSMUST00000115542]
[ENSMUST00000126303]
|
AlphaFold |
Q61024 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031766
AA Change: A341E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000031766 Gene: ENSMUSG00000029752 AA Change: A341E
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: A341E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000111204 Gene: ENSMUSG00000029752 AA Change: A341E
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 |
noncoding transcript
Transcript: ENSMUST00000140097
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
100% (57/57) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
A |
G |
7: 130,747,836 (GRCm39) |
F52S |
probably damaging |
Het |
Acot12 |
T |
C |
13: 91,931,122 (GRCm39) |
S457P |
probably damaging |
Het |
Adcy5 |
G |
A |
16: 35,110,478 (GRCm39) |
V882M |
possibly damaging |
Het |
Ahnak |
A |
G |
19: 8,991,664 (GRCm39) |
D4316G |
possibly damaging |
Het |
Aldh1l2 |
G |
A |
10: 83,342,607 (GRCm39) |
A401V |
probably damaging |
Het |
Apol7e |
A |
G |
15: 77,601,810 (GRCm39) |
H136R |
probably benign |
Het |
Arl5a |
A |
G |
2: 52,302,072 (GRCm39) |
|
probably null |
Het |
C7 |
A |
G |
15: 5,075,143 (GRCm39) |
L183P |
probably damaging |
Het |
Cacng2 |
C |
T |
15: 78,003,037 (GRCm39) |
A19T |
probably damaging |
Het |
Ccdc121rt2 |
A |
G |
5: 112,598,575 (GRCm39) |
N374S |
probably benign |
Het |
Ccr4 |
A |
G |
9: 114,321,633 (GRCm39) |
F144S |
probably damaging |
Het |
Ckap2 |
A |
G |
8: 22,658,763 (GRCm39) |
V660A |
probably benign |
Het |
Cramp1 |
A |
T |
17: 25,222,189 (GRCm39) |
Y176* |
probably null |
Het |
Dgki |
A |
G |
6: 36,890,581 (GRCm39) |
S922P |
possibly damaging |
Het |
Drd5 |
C |
T |
5: 38,477,679 (GRCm39) |
S224L |
probably damaging |
Het |
Ei24 |
T |
C |
9: 36,691,459 (GRCm39) |
K341E |
probably benign |
Het |
Eno2 |
A |
T |
6: 124,744,659 (GRCm39) |
|
probably benign |
Het |
Epb41l4a |
T |
C |
18: 33,961,259 (GRCm39) |
N425S |
probably benign |
Het |
F13b |
T |
G |
1: 139,435,961 (GRCm39) |
C256G |
probably damaging |
Het |
Gp6 |
A |
T |
7: 4,376,270 (GRCm39) |
|
probably benign |
Het |
H2-Q7 |
A |
T |
17: 35,659,123 (GRCm39) |
R191S |
probably damaging |
Het |
Ivns1abp |
T |
A |
1: 151,227,382 (GRCm39) |
S63R |
possibly damaging |
Het |
Kcnj16 |
A |
G |
11: 110,915,946 (GRCm39) |
|
probably null |
Het |
Lpcat4 |
T |
C |
2: 112,075,142 (GRCm39) |
|
probably null |
Het |
Lrrc14b |
T |
C |
13: 74,511,561 (GRCm39) |
K173R |
probably benign |
Het |
Maml3 |
C |
A |
3: 51,597,866 (GRCm39) |
R939S |
probably damaging |
Het |
Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
Mrpl46 |
T |
A |
7: 78,431,312 (GRCm39) |
Y82F |
probably damaging |
Het |
Mthfs |
T |
A |
9: 89,097,356 (GRCm39) |
I71N |
probably damaging |
Het |
Nectin4 |
T |
C |
1: 171,212,720 (GRCm39) |
V351A |
possibly damaging |
Het |
Npas3 |
T |
C |
12: 54,115,612 (GRCm39) |
F827L |
probably damaging |
Het |
Nrp1 |
G |
A |
8: 129,224,577 (GRCm39) |
|
probably benign |
Het |
Ocln |
C |
A |
13: 100,671,632 (GRCm39) |
A242S |
probably damaging |
Het |
Or10ad1c |
T |
A |
15: 98,084,920 (GRCm39) |
T253S |
probably damaging |
Het |
Or13g1 |
G |
A |
7: 85,956,012 (GRCm39) |
T103I |
probably damaging |
Het |
Or5d37 |
A |
T |
2: 87,924,237 (GRCm39) |
N14K |
probably benign |
Het |
Pappa |
T |
C |
4: 65,149,378 (GRCm39) |
|
probably benign |
Het |
Ptpn6 |
T |
C |
6: 124,698,752 (GRCm39) |
T480A |
probably benign |
Het |
Pycr1 |
A |
T |
11: 120,532,512 (GRCm39) |
D168E |
possibly damaging |
Het |
Rnf6 |
T |
C |
5: 146,148,674 (GRCm39) |
T126A |
probably damaging |
Het |
Slc25a39 |
G |
A |
11: 102,296,657 (GRCm39) |
|
probably benign |
Het |
Slc35f4 |
G |
T |
14: 49,541,029 (GRCm39) |
|
probably benign |
Het |
Sppl2a |
C |
T |
2: 126,768,772 (GRCm39) |
A112T |
probably damaging |
Het |
Sptbn1 |
A |
C |
11: 30,088,360 (GRCm39) |
|
probably benign |
Het |
Sqle |
T |
C |
15: 59,197,907 (GRCm39) |
Y376H |
probably benign |
Het |
Terb1 |
A |
T |
8: 105,212,094 (GRCm39) |
Y296N |
probably damaging |
Het |
Ttbk2 |
T |
C |
2: 120,579,397 (GRCm39) |
H506R |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,737,879 (GRCm39) |
D4220G |
probably benign |
Het |
Tub |
A |
G |
7: 108,625,939 (GRCm39) |
D230G |
probably benign |
Het |
Ube2d3 |
T |
A |
3: 135,170,967 (GRCm39) |
I137K |
probably benign |
Het |
Vldlr |
G |
T |
19: 27,212,238 (GRCm39) |
C84F |
probably damaging |
Het |
Vmn1r54 |
A |
T |
6: 90,246,970 (GRCm39) |
I295F |
probably damaging |
Het |
Vmn2r56 |
A |
G |
7: 12,466,918 (GRCm39) |
S39P |
probably damaging |
Het |
Zfp358 |
A |
G |
8: 3,545,934 (GRCm39) |
H172R |
probably damaging |
Het |
Zfp619 |
T |
C |
7: 39,187,062 (GRCm39) |
C1031R |
probably damaging |
Het |
Zfp777 |
A |
G |
6: 48,021,280 (GRCm39) |
I114T |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAAGCACTTCCTCCAGTCG -3'
(R):5'- TGTTTACCTTGAGAGGAACTGGC -3'
Sequencing Primer
(F):5'- TTCCTCCAGTCGAAAGAAATTCAGGG -3'
(R):5'- GAGAGGAACTGGCCTGTTTC -3'
|
Posted On |
2014-08-25 |