Incidental Mutation 'R0034:Asns'
ID |
64580 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asns
|
Ensembl Gene |
ENSMUSG00000029752 |
Gene Name |
asparagine synthetase |
Synonyms |
|
MMRRC Submission |
038328-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.272)
|
Stock # |
R0034 (G1)
|
Quality Score |
106 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
7675169-7693209 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 7676299 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 419
(P419L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111204
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031766]
[ENSMUST00000115542]
|
AlphaFold |
Q61024 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031766
AA Change: P419L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031766 Gene: ENSMUSG00000029752 AA Change: P419L
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: P419L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111204 Gene: ENSMUSG00000029752 AA Change: P419L
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 |
noncoding transcript
Transcript: ENSMUST00000133972
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140097
|
Meta Mutation Damage Score |
0.9651 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.4%
|
Validation Efficiency |
98% (64/65) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430038I01Rik |
C |
T |
7: 136,989,321 (GRCm39) |
R60Q |
probably benign |
Het |
Angpt4 |
C |
T |
2: 151,771,311 (GRCm39) |
T209I |
probably benign |
Het |
Ap3b1 |
T |
C |
13: 94,616,393 (GRCm39) |
|
probably benign |
Het |
Aplp1 |
A |
C |
7: 30,143,867 (GRCm39) |
V56G |
probably damaging |
Het |
Atxn7 |
A |
T |
14: 14,100,846 (GRCm38) |
H844L |
probably damaging |
Het |
Cd14 |
A |
G |
18: 36,859,288 (GRCm39) |
Y56H |
probably benign |
Het |
Cd300lb |
C |
T |
11: 114,819,225 (GRCm39) |
V135I |
probably damaging |
Het |
Cep152 |
C |
T |
2: 125,425,813 (GRCm39) |
A851T |
probably benign |
Het |
Cfap74 |
C |
T |
4: 155,545,344 (GRCm39) |
|
probably benign |
Het |
Col28a1 |
T |
A |
6: 8,175,708 (GRCm39) |
I47L |
probably benign |
Het |
Dnaaf9 |
T |
C |
2: 130,578,492 (GRCm39) |
H664R |
probably damaging |
Het |
Eef1d |
T |
C |
15: 75,774,808 (GRCm39) |
T200A |
probably benign |
Het |
Exoc1l |
A |
G |
5: 76,664,377 (GRCm39) |
I155M |
probably damaging |
Het |
Faap100 |
A |
T |
11: 120,262,973 (GRCm39) |
M795K |
probably benign |
Het |
Gabpb1 |
C |
T |
2: 126,500,454 (GRCm39) |
R15Q |
possibly damaging |
Het |
Gata4 |
C |
A |
14: 63,438,933 (GRCm39) |
M381I |
probably benign |
Het |
Gm5114 |
A |
G |
7: 39,058,282 (GRCm39) |
S446P |
possibly damaging |
Het |
Gnb1 |
T |
A |
4: 155,636,146 (GRCm39) |
N155K |
probably benign |
Het |
Haspin |
G |
A |
11: 73,029,044 (GRCm39) |
T15M |
probably damaging |
Het |
Heatr5a |
A |
G |
12: 51,971,955 (GRCm39) |
L745P |
probably damaging |
Het |
Kcng3 |
T |
A |
17: 83,895,812 (GRCm39) |
|
probably benign |
Het |
Kif15 |
A |
T |
9: 122,828,350 (GRCm39) |
N887I |
possibly damaging |
Het |
Kif26a |
T |
C |
12: 112,135,397 (GRCm39) |
|
probably benign |
Het |
Kif9 |
G |
A |
9: 110,348,679 (GRCm39) |
C738Y |
probably benign |
Het |
Kifc2 |
G |
T |
15: 76,551,300 (GRCm39) |
C613F |
probably benign |
Het |
Klf12 |
A |
G |
14: 100,224,865 (GRCm39) |
|
probably null |
Het |
Lrp1 |
A |
T |
10: 127,381,520 (GRCm39) |
I3826N |
probably benign |
Het |
Map2k4 |
A |
G |
11: 65,610,437 (GRCm39) |
|
probably benign |
Het |
Myo7b |
A |
G |
18: 32,093,913 (GRCm39) |
S2006P |
probably damaging |
Het |
Or51m1 |
T |
C |
7: 103,578,708 (GRCm39) |
V226A |
probably benign |
Het |
Pax4 |
T |
C |
6: 28,442,448 (GRCm39) |
T285A |
probably benign |
Het |
Pcdhb5 |
A |
G |
18: 37,455,137 (GRCm39) |
N506D |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,367,405 (GRCm39) |
G768S |
probably benign |
Het |
Plb1 |
G |
T |
5: 32,430,457 (GRCm39) |
G138V |
probably benign |
Het |
Poln |
A |
C |
5: 34,272,762 (GRCm39) |
V398G |
possibly damaging |
Het |
Poteg |
A |
G |
8: 27,952,105 (GRCm39) |
|
probably benign |
Het |
Rapgef1 |
C |
A |
2: 29,614,780 (GRCm39) |
|
probably benign |
Het |
Rbm43 |
A |
T |
2: 51,815,722 (GRCm39) |
D166E |
probably benign |
Het |
Rhobtb2 |
T |
C |
14: 70,026,137 (GRCm39) |
T602A |
probably benign |
Het |
Samd3 |
G |
A |
10: 26,147,398 (GRCm39) |
|
probably benign |
Het |
Sbno2 |
A |
C |
10: 79,894,174 (GRCm39) |
|
probably benign |
Het |
Sec1 |
A |
G |
7: 45,328,759 (GRCm39) |
V96A |
probably benign |
Het |
Senp7 |
A |
C |
16: 55,973,933 (GRCm39) |
S385R |
possibly damaging |
Het |
Sgk3 |
T |
C |
1: 9,955,902 (GRCm39) |
V301A |
probably damaging |
Het |
Sgpl1 |
A |
T |
10: 60,938,392 (GRCm39) |
M467K |
probably damaging |
Het |
Slc22a26 |
A |
G |
19: 7,779,618 (GRCm39) |
I66T |
probably benign |
Het |
Stra6 |
G |
A |
9: 58,058,752 (GRCm39) |
|
probably null |
Het |
Tfrc |
T |
A |
16: 32,434,214 (GRCm39) |
|
probably null |
Het |
Tmem30b |
T |
C |
12: 73,592,779 (GRCm39) |
Y112C |
probably damaging |
Het |
Trap1 |
A |
T |
16: 3,886,894 (GRCm39) |
|
probably benign |
Het |
Trpc1 |
A |
G |
9: 95,631,814 (GRCm39) |
S43P |
probably damaging |
Het |
Tsku |
T |
C |
7: 98,001,870 (GRCm39) |
T154A |
possibly damaging |
Het |
Uroc1 |
T |
C |
6: 90,322,292 (GRCm39) |
V272A |
probably damaging |
Het |
Vmn1r69 |
T |
A |
7: 10,314,738 (GRCm39) |
|
probably benign |
Het |
Vmn2r1 |
T |
A |
3: 63,997,435 (GRCm39) |
W364R |
probably damaging |
Het |
Wnk2 |
G |
T |
13: 49,221,556 (GRCm39) |
T377K |
possibly damaging |
Het |
Zfta |
C |
A |
19: 7,397,724 (GRCm39) |
H90Q |
probably damaging |
Het |
Zscan20 |
T |
C |
4: 128,479,455 (GRCm39) |
N1012S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCATTCTGACAGGAGCACACAAG -3'
(R):5'- TGCATCTGGGAGGAGAAATGCAATC -3'
Sequencing Primer
(F):5'- CACAAGGAGGGTCAGTGAAGTC -3'
(R):5'- ATGTCCTGACGAGTGTCAC -3'
|
Posted On |
2013-08-06 |