Incidental Mutation 'R4056:Gvin3'
ID |
314245 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gvin3
|
Ensembl Gene |
ENSMUSG00000073902 |
Gene Name |
GTPase, very large interferon inducible, family member 3 |
Synonyms |
Gm1966 |
MMRRC Submission |
041617-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R4056 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
106195950-106203242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 106203216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 9
(D9E)
|
Gene Model |
predicted gene model for transcript(s):
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098144
AA Change: D9E
PolyPhen 2
Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000095748 Gene: ENSMUSG00000073902 AA Change: D9E
Domain | Start | End | E-Value | Type |
low complexity region
|
101 |
116 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184540
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
T |
A |
11: 80,266,329 (GRCm39) |
|
probably benign |
Het |
Abcf1 |
A |
G |
17: 36,270,807 (GRCm39) |
I510T |
possibly damaging |
Het |
Adamts18 |
T |
A |
8: 114,464,212 (GRCm39) |
K749* |
probably null |
Het |
Alms1 |
A |
G |
6: 85,564,785 (GRCm39) |
E53G |
unknown |
Het |
Bmper |
A |
G |
9: 23,310,925 (GRCm39) |
H453R |
probably benign |
Het |
Btg1 |
T |
A |
10: 96,454,216 (GRCm39) |
M1K |
probably null |
Het |
Cfap91 |
A |
G |
16: 38,118,576 (GRCm39) |
V741A |
probably benign |
Het |
Cntfr |
A |
G |
4: 41,658,900 (GRCm39) |
I277T |
probably damaging |
Het |
Col6a4 |
C |
A |
9: 105,903,665 (GRCm39) |
R1642I |
probably damaging |
Het |
Ctnna3 |
T |
C |
10: 64,838,347 (GRCm39) |
I808T |
probably damaging |
Het |
Cyp1a1 |
T |
A |
9: 57,607,432 (GRCm39) |
V20D |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,961,364 (GRCm39) |
T2554A |
probably benign |
Het |
Fcgbp |
A |
T |
7: 27,803,541 (GRCm39) |
Q1715L |
probably benign |
Het |
Gabarapl1 |
T |
C |
6: 129,515,593 (GRCm39) |
F77S |
probably damaging |
Het |
Hpse2 |
T |
C |
19: 43,282,714 (GRCm39) |
K180E |
probably damaging |
Het |
Hs3st2 |
T |
A |
7: 121,099,925 (GRCm39) |
L257Q |
probably damaging |
Het |
Ighv1-18 |
T |
C |
12: 114,646,287 (GRCm39) |
T106A |
probably benign |
Het |
Ints2 |
A |
C |
11: 86,133,778 (GRCm39) |
L424R |
probably damaging |
Het |
Iqgap2 |
A |
G |
13: 95,886,541 (GRCm39) |
V114A |
probably damaging |
Het |
Kalrn |
A |
T |
16: 34,134,579 (GRCm39) |
I401N |
probably damaging |
Het |
Mast2 |
T |
A |
4: 116,194,698 (GRCm39) |
|
probably benign |
Het |
Myo18a |
A |
G |
11: 77,702,839 (GRCm39) |
E5G |
possibly damaging |
Het |
Nav3 |
A |
T |
10: 109,716,394 (GRCm39) |
|
probably null |
Het |
Net1 |
G |
A |
13: 3,934,949 (GRCm39) |
T359I |
probably damaging |
Het |
Pcsk9 |
T |
A |
4: 106,301,899 (GRCm39) |
H616L |
probably benign |
Het |
Plekha5 |
G |
T |
6: 140,534,958 (GRCm39) |
V597L |
possibly damaging |
Het |
Plekhg3 |
T |
A |
12: 76,612,021 (GRCm39) |
I374N |
probably damaging |
Het |
Pros1 |
A |
T |
16: 62,721,008 (GRCm39) |
R188* |
probably null |
Het |
Rhbg |
C |
T |
3: 88,150,755 (GRCm39) |
V434I |
probably damaging |
Het |
Rims1 |
A |
G |
1: 22,363,163 (GRCm39) |
|
probably benign |
Het |
Rxfp2 |
T |
C |
5: 149,975,098 (GRCm39) |
|
probably null |
Het |
Sbf2 |
T |
C |
7: 110,040,673 (GRCm39) |
I385V |
probably damaging |
Het |
Slc22a23 |
A |
C |
13: 34,482,987 (GRCm39) |
Y181* |
probably null |
Het |
Spata31 |
T |
A |
13: 65,069,469 (GRCm39) |
V539E |
probably benign |
Het |
Trpv5 |
G |
A |
6: 41,636,639 (GRCm39) |
R436C |
probably damaging |
Het |
Vmn1r13 |
G |
A |
6: 57,186,970 (GRCm39) |
C43Y |
probably benign |
Het |
Wif1 |
G |
A |
10: 120,918,099 (GRCm39) |
V156I |
probably benign |
Het |
Zfyve16 |
T |
C |
13: 92,641,057 (GRCm39) |
N1229S |
probably damaging |
Het |
|
Other mutations in Gvin3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01400:Gvin3
|
APN |
7 |
106,201,242 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01410:Gvin3
|
APN |
7 |
106,202,258 (GRCm39) |
exon |
noncoding transcript |
|
IGL01415:Gvin3
|
APN |
7 |
106,202,258 (GRCm39) |
exon |
noncoding transcript |
|
IGL01538:Gvin3
|
APN |
7 |
106,201,744 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01751:Gvin3
|
APN |
7 |
106,201,516 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01916:Gvin3
|
APN |
7 |
106,201,033 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02171:Gvin3
|
APN |
7 |
106,200,548 (GRCm39) |
exon |
noncoding transcript |
|
IGL02550:Gvin3
|
APN |
7 |
106,200,846 (GRCm39) |
exon |
noncoding transcript |
|
H8562:Gvin3
|
UTSW |
7 |
106,202,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R0016:Gvin3
|
UTSW |
7 |
106,202,453 (GRCm39) |
missense |
probably benign |
0.00 |
R0178:Gvin3
|
UTSW |
7 |
106,201,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R0420:Gvin3
|
UTSW |
7 |
106,203,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R0658:Gvin3
|
UTSW |
7 |
106,202,093 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1378:Gvin3
|
UTSW |
7 |
106,201,373 (GRCm39) |
missense |
probably damaging |
0.97 |
R1506:Gvin3
|
UTSW |
7 |
106,200,788 (GRCm39) |
missense |
probably benign |
0.08 |
R1628:Gvin3
|
UTSW |
7 |
106,202,476 (GRCm39) |
nonsense |
probably null |
|
R1834:Gvin3
|
UTSW |
7 |
106,202,983 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1888:Gvin3
|
UTSW |
7 |
106,196,630 (GRCm39) |
exon |
noncoding transcript |
|
R2145:Gvin3
|
UTSW |
7 |
106,202,215 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4067:Gvin3
|
UTSW |
7 |
106,198,772 (GRCm39) |
exon |
noncoding transcript |
|
R4631:Gvin3
|
UTSW |
7 |
106,198,730 (GRCm39) |
exon |
noncoding transcript |
|
R4817:Gvin3
|
UTSW |
7 |
106,200,437 (GRCm39) |
exon |
noncoding transcript |
|
R4900:Gvin3
|
UTSW |
7 |
106,197,793 (GRCm39) |
exon |
noncoding transcript |
|
R4970:Gvin3
|
UTSW |
7 |
106,199,864 (GRCm39) |
exon |
noncoding transcript |
|
R5009:Gvin3
|
UTSW |
7 |
106,200,767 (GRCm39) |
exon |
noncoding transcript |
|
R5050:Gvin3
|
UTSW |
7 |
106,196,179 (GRCm39) |
exon |
noncoding transcript |
|
R5086:Gvin3
|
UTSW |
7 |
106,197,234 (GRCm39) |
exon |
noncoding transcript |
|
R5090:Gvin3
|
UTSW |
7 |
106,200,109 (GRCm39) |
exon |
noncoding transcript |
|
R5168:Gvin3
|
UTSW |
7 |
106,196,054 (GRCm39) |
exon |
noncoding transcript |
|
R5260:Gvin3
|
UTSW |
7 |
106,198,411 (GRCm39) |
exon |
noncoding transcript |
|
R5331:Gvin3
|
UTSW |
7 |
106,197,958 (GRCm39) |
exon |
noncoding transcript |
|
R5389:Gvin3
|
UTSW |
7 |
106,197,442 (GRCm39) |
exon |
noncoding transcript |
|
R5433:Gvin3
|
UTSW |
7 |
106,199,314 (GRCm39) |
exon |
noncoding transcript |
|
R5488:Gvin3
|
UTSW |
7 |
106,200,797 (GRCm39) |
exon |
noncoding transcript |
|
R5489:Gvin3
|
UTSW |
7 |
106,200,797 (GRCm39) |
exon |
noncoding transcript |
|
R5504:Gvin3
|
UTSW |
7 |
106,201,951 (GRCm39) |
exon |
noncoding transcript |
|
R5956:Gvin3
|
UTSW |
7 |
106,200,677 (GRCm39) |
exon |
noncoding transcript |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATGCTGTGTCTGGGACTTC -3'
(R):5'- TGTCATGCTGAGAACACCC -3'
Sequencing Primer
(F):5'- CTGTGTCTGGGACTTCAGATTC -3'
(R):5'- GTCATGCTGAGAACACCCACAATG -3'
|
Posted On |
2015-04-30 |