Incidental Mutation 'R1075:Asns'
| ID |
85603 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asns
|
| Ensembl Gene |
ENSMUSG00000029752 |
| Gene Name |
asparagine synthetase |
| Synonyms |
|
| MMRRC Submission |
039161-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
R1075 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
7675169-7693209 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 7676076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 465
(R465*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031766]
[ENSMUST00000115542]
|
| AlphaFold |
Q61024 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031766
AA Change: R465*
|
| SMART Domains |
Protein: ENSMUSP00000031766
Gene: ENSMUSG00000029752
AA Change: R465*
| 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 null
Transcript: ENSMUST00000115542
AA Change: R465*
|
| SMART Domains |
Protein: ENSMUSP00000111204
Gene: ENSMUSG00000029752
AA Change: R465*
| 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: ENSMUST00000140097
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.4%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd6 |
T |
C |
4: 32,822,232 (GRCm39) |
H179R |
probably damaging |
Het |
| Apbb2 |
G |
T |
5: 66,460,021 (GRCm39) |
P692Q |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,391,567 (GRCm39) |
N627D |
possibly damaging |
Het |
| Bdkrb1 |
G |
A |
12: 105,570,562 (GRCm39) |
V43I |
probably benign |
Het |
| Bod1 |
T |
C |
11: 31,621,514 (GRCm39) |
D63G |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Csnka2ip |
T |
A |
16: 64,298,310 (GRCm39) |
K685* |
probably null |
Het |
| Dennd5a |
A |
T |
7: 109,517,808 (GRCm39) |
D609E |
probably benign |
Het |
| Dhx34 |
G |
C |
7: 15,952,274 (GRCm39) |
T117S |
probably benign |
Het |
| Dpp4 |
A |
T |
2: 62,182,630 (GRCm39) |
D550E |
probably benign |
Het |
| Enah |
C |
T |
1: 181,784,066 (GRCm39) |
R81K |
unknown |
Het |
| Epha5 |
G |
T |
5: 84,298,254 (GRCm39) |
A383E |
probably damaging |
Het |
| Epha5 |
C |
T |
5: 84,298,255 (GRCm39) |
A383T |
probably damaging |
Het |
| Etnppl |
A |
T |
3: 130,423,212 (GRCm39) |
M298L |
probably benign |
Het |
| Fam81a |
G |
A |
9: 70,017,556 (GRCm39) |
R130* |
probably null |
Het |
| Fbxl3 |
A |
C |
14: 103,332,839 (GRCm39) |
H46Q |
probably benign |
Het |
| Gal3st1 |
A |
G |
11: 3,948,509 (GRCm39) |
I239V |
possibly damaging |
Het |
| H2-T15 |
C |
T |
17: 36,367,038 (GRCm39) |
G335D |
probably benign |
Het |
| Htra4 |
T |
C |
8: 25,523,612 (GRCm39) |
I318V |
probably benign |
Het |
| Igdcc4 |
A |
G |
9: 65,038,932 (GRCm39) |
T906A |
possibly damaging |
Het |
| Il7r |
T |
C |
15: 9,516,543 (GRCm39) |
N86S |
probably benign |
Het |
| Mettl17 |
A |
G |
14: 52,127,063 (GRCm39) |
N231D |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,299,040 (GRCm39) |
D1998G |
probably benign |
Het |
| Myh15 |
G |
T |
16: 48,940,417 (GRCm39) |
R789L |
possibly damaging |
Het |
| Myh7 |
A |
G |
14: 55,224,860 (GRCm39) |
V569A |
probably benign |
Het |
| Nell1 |
A |
G |
7: 50,503,588 (GRCm39) |
I617M |
probably damaging |
Het |
| Nlrp1b |
C |
G |
11: 71,072,512 (GRCm39) |
E444Q |
probably benign |
Het |
| Or10ak16 |
T |
C |
4: 118,750,402 (GRCm39) |
S41P |
probably damaging |
Het |
| Or2b4 |
T |
A |
17: 38,116,660 (GRCm39) |
L208* |
probably null |
Het |
| Or2y8 |
T |
A |
11: 52,035,677 (GRCm39) |
I227F |
possibly damaging |
Het |
| Psmd2 |
T |
C |
16: 20,478,709 (GRCm39) |
S603P |
probably damaging |
Het |
| Slc4a2 |
T |
A |
5: 24,644,055 (GRCm39) |
I913N |
possibly damaging |
Het |
| Smyd4 |
T |
C |
11: 75,291,164 (GRCm39) |
Y589H |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 100,000,992 (GRCm39) |
E1850G |
probably damaging |
Het |
| Srsf11 |
A |
T |
3: 157,718,427 (GRCm39) |
|
probably benign |
Het |
| Stra6 |
A |
T |
9: 58,058,687 (GRCm39) |
N488I |
possibly damaging |
Het |
| Supt20 |
C |
T |
3: 54,614,362 (GRCm39) |
Q160* |
probably null |
Het |
| Tbc1d2b |
G |
A |
9: 90,104,393 (GRCm39) |
P583L |
possibly damaging |
Het |
| Uchl1 |
T |
A |
5: 66,839,808 (GRCm39) |
F117I |
probably damaging |
Het |
| Usf1 |
T |
A |
1: 171,245,677 (GRCm39) |
N307K |
probably benign |
Het |
| Zfp994 |
T |
A |
17: 22,419,926 (GRCm39) |
H341L |
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 |
|
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'- TCAGCAATGAATTGGAAGTCTTCCCTC -3'
(R):5'- TACCTGTCTCTGCCGCCAGATATG -3'
Sequencing Primer
(F):5'- AGGAACTCTGACTCTCCTTTAGATAC -3'
(R):5'- TGCCGCCAGATATGAGAATTCC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation