Incidental Mutation 'R6789:Asns'
ID |
532931 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asns
|
Ensembl Gene |
ENSMUSG00000029752 |
Gene Name |
asparagine synthetase |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.272)
|
Stock # |
R6789 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
7675169-7693209 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 7675344 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 553
(T553A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111204
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031766]
[ENSMUST00000115542]
|
AlphaFold |
Q61024 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031766
AA Change: T553A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000031766 Gene: ENSMUSG00000029752 AA Change: T553A
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: T553A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000111204 Gene: ENSMUSG00000029752 AA Change: T553A
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
T |
A |
1: 58,343,644 (GRCm39) |
D442E |
probably benign |
Het |
Arl6ip4 |
G |
A |
5: 124,254,665 (GRCm39) |
G53R |
probably damaging |
Het |
Atp1a1 |
T |
A |
3: 101,493,614 (GRCm39) |
N497Y |
possibly damaging |
Het |
Birc2 |
T |
C |
9: 7,836,966 (GRCm39) |
|
probably benign |
Het |
Catsperd |
C |
A |
17: 56,961,426 (GRCm39) |
|
probably null |
Het |
Dchs1 |
G |
T |
7: 105,406,210 (GRCm39) |
Q2341K |
possibly damaging |
Het |
Dydc2 |
C |
A |
14: 40,771,296 (GRCm39) |
V128L |
probably benign |
Het |
Dync2i2 |
A |
G |
2: 29,923,284 (GRCm39) |
|
probably null |
Het |
Efna3 |
C |
T |
3: 89,223,769 (GRCm39) |
|
probably null |
Het |
Fbn2 |
C |
T |
18: 58,143,686 (GRCm39) |
E2790K |
probably benign |
Het |
Fhip1a |
A |
T |
3: 85,579,865 (GRCm39) |
L780* |
probably null |
Het |
Gm11569 |
C |
A |
11: 99,689,657 (GRCm39) |
|
probably benign |
Het |
Gprc6a |
C |
T |
10: 51,507,412 (GRCm39) |
G39D |
probably damaging |
Het |
Igkv6-17 |
A |
G |
6: 70,348,692 (GRCm39) |
D21G |
probably benign |
Het |
Klra4 |
T |
C |
6: 130,039,182 (GRCm39) |
Q70R |
probably damaging |
Het |
Krtap31-2 |
C |
T |
11: 99,827,549 (GRCm39) |
S127F |
possibly damaging |
Het |
Lingo4 |
G |
T |
3: 94,306,662 (GRCm39) |
|
probably benign |
Het |
Lrp2bp |
A |
G |
8: 46,466,151 (GRCm39) |
K87E |
possibly damaging |
Het |
Macf1 |
A |
T |
4: 123,266,231 (GRCm39) |
M5333K |
probably damaging |
Het |
Mmp13 |
A |
T |
9: 7,272,781 (GRCm39) |
Y47F |
probably benign |
Het |
Muc16 |
G |
A |
9: 18,471,282 (GRCm39) |
P7261S |
probably benign |
Het |
Nostrin |
G |
T |
2: 69,005,856 (GRCm39) |
M212I |
probably benign |
Het |
Nr1h5 |
G |
A |
3: 102,865,677 (GRCm39) |
T8M |
possibly damaging |
Het |
Nup153 |
A |
T |
13: 46,870,792 (GRCm39) |
L41H |
probably damaging |
Het |
Or10b1 |
T |
C |
10: 78,355,802 (GRCm39) |
L120P |
noncoding transcript |
Het |
Or5b97 |
T |
A |
19: 12,878,653 (GRCm39) |
I164L |
probably benign |
Het |
Pappa |
A |
T |
4: 65,099,278 (GRCm39) |
D599V |
probably damaging |
Het |
Pcdh18 |
G |
A |
3: 49,710,364 (GRCm39) |
T317I |
probably benign |
Het |
Pcsk5 |
T |
A |
19: 17,434,150 (GRCm39) |
N1406I |
possibly damaging |
Het |
Pik3c2a |
A |
T |
7: 115,961,419 (GRCm39) |
Y1027N |
probably damaging |
Het |
Prpf6 |
T |
A |
2: 181,257,844 (GRCm39) |
Y105* |
probably null |
Het |
Rab5a |
C |
T |
17: 53,804,650 (GRCm39) |
P87S |
probably damaging |
Het |
Rnf8 |
T |
A |
17: 29,854,843 (GRCm39) |
W433R |
probably damaging |
Het |
Slc18b1 |
T |
A |
10: 23,692,227 (GRCm39) |
V232D |
probably benign |
Het |
Taf11 |
C |
A |
17: 28,126,492 (GRCm39) |
A52S |
probably benign |
Het |
Thoc2l |
T |
C |
5: 104,665,555 (GRCm39) |
F26L |
probably benign |
Het |
Trav9-2 |
T |
C |
14: 53,828,819 (GRCm39) |
L63P |
possibly damaging |
Het |
Zfat |
T |
C |
15: 67,956,235 (GRCm39) |
Y1199C |
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 |
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 |
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'- CGGTCTCTGGCTACCTTGAAAG -3'
(R):5'- GAGATGATGTCTGCAGCCTC -3'
Sequencing Primer
(F):5'- CTACCTTGAAAGAGGCTGCACTG -3'
(R):5'- ATGTCTGCAGCCTCCCAGAAG -3'
|
Posted On |
2018-08-29 |