Incidental Mutation 'IGL02275:4930596D02Rik'
| ID |
287312 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4930596D02Rik
|
| Ensembl Gene |
ENSMUSG00000041068 |
| Gene Name |
RIKEN cDNA 4930596D02 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
IGL02275
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
35531445-35533935 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35533880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 9
(T9A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043266]
|
| AlphaFold |
Q3V0H9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043266
AA Change: T9A
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000039186
Gene: ENSMUSG00000041068
AA Change: T9A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
|
RasGEFN
|
64 |
186 |
8.6e-14 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700037C18Rik |
T |
A |
16: 3,724,146 (GRCm39) |
D130V |
probably damaging |
Het |
| Anapc1 |
C |
A |
2: 128,501,772 (GRCm39) |
A757S |
probably benign |
Het |
| Bpifa6 |
A |
T |
2: 153,834,192 (GRCm39) |
D328V |
probably benign |
Het |
| Cdh19 |
T |
A |
1: 110,853,616 (GRCm39) |
K275I |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,895,217 (GRCm39) |
I1148T |
possibly damaging |
Het |
| Commd1 |
A |
T |
11: 22,850,017 (GRCm39) |
V222D |
probably damaging |
Het |
| Crim1 |
T |
A |
17: 78,677,427 (GRCm39) |
M876K |
possibly damaging |
Het |
| Dennd1b |
C |
A |
1: 139,008,992 (GRCm39) |
H232N |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,582,268 (GRCm39) |
T393A |
probably benign |
Het |
| Dnai7 |
T |
C |
6: 145,123,090 (GRCm39) |
Y592C |
probably damaging |
Het |
| Gabrb2 |
G |
T |
11: 42,482,721 (GRCm39) |
R193L |
probably benign |
Het |
| Gm5828 |
T |
A |
1: 16,839,342 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6483 |
C |
T |
8: 19,741,629 (GRCm39) |
P55S |
probably damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,879,364 (GRCm39) |
Y619C |
possibly damaging |
Het |
| Kctd19 |
A |
G |
8: 106,123,006 (GRCm39) |
I136T |
probably damaging |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or2w6 |
A |
C |
13: 21,843,170 (GRCm39) |
F108V |
probably benign |
Het |
| Sel1l |
T |
C |
12: 91,781,789 (GRCm39) |
Y532C |
probably damaging |
Het |
| Sirpb1a |
A |
G |
3: 15,475,469 (GRCm39) |
|
probably null |
Het |
| Ush2a |
C |
T |
1: 187,995,466 (GRCm39) |
T79M |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,244,690 (GRCm39) |
V1215A |
probably damaging |
Het |
| Vdac3-ps1 |
T |
C |
13: 18,205,379 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r75 |
T |
C |
7: 85,814,348 (GRCm39) |
T382A |
probably benign |
Het |
| Vps53 |
T |
C |
11: 75,937,949 (GRCm39) |
Y728C |
probably benign |
Het |
|
| Other mutations in 4930596D02Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00971:4930596D02Rik
|
APN |
14 |
35,532,170 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01622:4930596D02Rik
|
APN |
14 |
35,532,024 (GRCm39) |
nonsense |
probably null |
|
|
IGL01623:4930596D02Rik
|
APN |
14 |
35,532,024 (GRCm39) |
nonsense |
probably null |
|
|
IGL02049:4930596D02Rik
|
APN |
14 |
35,533,535 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02668:4930596D02Rik
|
APN |
14 |
35,532,074 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02684:4930596D02Rik
|
APN |
14 |
35,532,020 (GRCm39) |
nonsense |
probably null |
|
|
R0178:4930596D02Rik
|
UTSW |
14 |
35,533,435 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0601:4930596D02Rik
|
UTSW |
14 |
35,532,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:4930596D02Rik
|
UTSW |
14 |
35,533,418 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1664:4930596D02Rik
|
UTSW |
14 |
35,533,772 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1899:4930596D02Rik
|
UTSW |
14 |
35,532,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5153:4930596D02Rik
|
UTSW |
14 |
35,532,212 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6222:4930596D02Rik
|
UTSW |
14 |
35,531,923 (GRCm39) |
makesense |
probably null |
|
|
R6935:4930596D02Rik
|
UTSW |
14 |
35,533,864 (GRCm39) |
missense |
probably benign |
|
|
R7314:4930596D02Rik
|
UTSW |
14 |
35,533,606 (GRCm39) |
missense |
probably benign |
|
|
R8422:4930596D02Rik
|
UTSW |
14 |
35,532,009 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9629:4930596D02Rik
|
UTSW |
14 |
35,532,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation