Incidental Mutation 'R0862:4930433I11Rik'
| ID |
82148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930433I11Rik
|
| Ensembl Gene |
ENSMUSG00000091692 |
| Gene Name |
RIKEN cDNA 4930433I11 gene |
| Synonyms |
LOC243944 |
| MMRRC Submission |
039036-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R0862 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
40637033-40644257 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40642480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 141
(T141S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171664]
[ENSMUST00000206529]
|
| AlphaFold |
A0A0U1RPT6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171664
AA Change: T50S
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000131120
Gene: ENSMUSG00000091692
AA Change: T50S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4629
|
208 |
354 |
2.2e-60 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206360
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206529
AA Change: T141S
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.1217 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 94.9%
- 20x: 87.0%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230009I02Rik |
T |
C |
11: 50,982,144 (GRCm39) |
|
noncoding transcript |
Het |
| Adamts13 |
G |
A |
2: 26,896,336 (GRCm39) |
|
probably null |
Het |
| Chac1 |
C |
A |
2: 119,183,950 (GRCm39) |
A184E |
probably damaging |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Csmd1 |
T |
A |
8: 16,240,040 (GRCm39) |
Y1124F |
probably damaging |
Het |
| Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
| Dyrk4 |
T |
C |
6: 126,854,296 (GRCm39) |
E499G |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,471,074 (GRCm39) |
I1603N |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,184,811 (GRCm39) |
C1660* |
probably null |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Gm19684 |
A |
T |
17: 36,432,792 (GRCm39) |
|
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Map4 |
A |
G |
9: 109,808,037 (GRCm39) |
Y34C |
probably damaging |
Het |
| Mapk8 |
C |
T |
14: 33,114,949 (GRCm39) |
R189H |
probably damaging |
Het |
| Mgst1 |
C |
T |
6: 138,124,749 (GRCm39) |
T21M |
probably damaging |
Het |
| Msh2 |
A |
G |
17: 87,987,480 (GRCm39) |
T207A |
probably benign |
Het |
| Mthfd2 |
A |
G |
6: 83,290,376 (GRCm39) |
V85A |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,570,820 (GRCm39) |
S627G |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,457,263 (GRCm39) |
T2266I |
probably damaging |
Het |
| Or51b6b |
T |
C |
7: 103,309,735 (GRCm39) |
T241A |
probably damaging |
Het |
| Or7g16 |
T |
C |
9: 18,727,002 (GRCm39) |
Y196C |
probably damaging |
Het |
| Or8d1 |
T |
C |
9: 38,766,478 (GRCm39) |
V40A |
possibly damaging |
Het |
| Pcdhb2 |
G |
A |
18: 37,428,710 (GRCm39) |
V228I |
possibly damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,503,578 (GRCm39) |
|
probably benign |
Het |
| Piwil2 |
T |
C |
14: 70,632,823 (GRCm39) |
D583G |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,410,966 (GRCm39) |
M1022L |
probably benign |
Het |
| Rbm48 |
A |
G |
5: 3,640,438 (GRCm39) |
S314P |
probably benign |
Het |
| Rbms3 |
A |
T |
9: 117,458,860 (GRCm39) |
|
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,266,049 (GRCm39) |
S726T |
possibly damaging |
Het |
| Trim43c |
A |
T |
9: 88,725,087 (GRCm39) |
H202L |
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,721,730 (GRCm39) |
F1334S |
probably damaging |
Het |
| Tyk2 |
T |
C |
9: 21,027,463 (GRCm39) |
H503R |
probably benign |
Het |
| Ubr2 |
G |
A |
17: 47,278,009 (GRCm39) |
Q745* |
probably null |
Het |
| Ush2a |
T |
A |
1: 188,275,015 (GRCm39) |
Y1829* |
probably null |
Het |
| Vmn2r65 |
T |
A |
7: 84,592,853 (GRCm39) |
E451D |
probably benign |
Het |
|
| Other mutations in 4930433I11Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02380:4930433I11Rik
|
APN |
7 |
40,643,968 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
BB002:4930433I11Rik
|
UTSW |
7 |
40,643,506 (GRCm39) |
nonsense |
probably null |
|
|
BB012:4930433I11Rik
|
UTSW |
7 |
40,643,506 (GRCm39) |
nonsense |
probably null |
|
|
FR4304:4930433I11Rik
|
UTSW |
7 |
40,642,480 (GRCm39) |
small deletion |
probably benign |
|
|
FR4340:4930433I11Rik
|
UTSW |
7 |
40,642,479 (GRCm39) |
small deletion |
probably benign |
|
|
FR4342:4930433I11Rik
|
UTSW |
7 |
40,642,479 (GRCm39) |
small deletion |
probably benign |
|
|
FR4548:4930433I11Rik
|
UTSW |
7 |
40,642,480 (GRCm39) |
small deletion |
probably benign |
|
|
R0498:4930433I11Rik
|
UTSW |
7 |
40,642,718 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0610:4930433I11Rik
|
UTSW |
7 |
40,642,480 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0704:4930433I11Rik
|
UTSW |
7 |
40,643,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0723:4930433I11Rik
|
UTSW |
7 |
40,642,480 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0826:4930433I11Rik
|
UTSW |
7 |
40,642,480 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0850:4930433I11Rik
|
UTSW |
7 |
40,642,480 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0863:4930433I11Rik
|
UTSW |
7 |
40,642,480 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0960:4930433I11Rik
|
UTSW |
7 |
40,642,480 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0961:4930433I11Rik
|
UTSW |
7 |
40,642,480 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0964:4930433I11Rik
|
UTSW |
7 |
40,642,480 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1099:4930433I11Rik
|
UTSW |
7 |
40,642,480 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1101:4930433I11Rik
|
UTSW |
7 |
40,642,480 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1167:4930433I11Rik
|
UTSW |
7 |
40,643,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1401:4930433I11Rik
|
UTSW |
7 |
40,642,480 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1429:4930433I11Rik
|
UTSW |
7 |
40,642,480 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1462:4930433I11Rik
|
UTSW |
7 |
40,642,370 (GRCm39) |
nonsense |
probably null |
|
|
R1462:4930433I11Rik
|
UTSW |
7 |
40,642,370 (GRCm39) |
nonsense |
probably null |
|
|
R1816:4930433I11Rik
|
UTSW |
7 |
40,644,222 (GRCm39) |
nonsense |
probably null |
|
|
R1852:4930433I11Rik
|
UTSW |
7 |
40,643,037 (GRCm39) |
missense |
probably benign |
0.29 |
|
R3814:4930433I11Rik
|
UTSW |
7 |
40,642,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4124:4930433I11Rik
|
UTSW |
7 |
40,643,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4823:4930433I11Rik
|
UTSW |
7 |
40,642,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5092:4930433I11Rik
|
UTSW |
7 |
40,637,091 (GRCm39) |
start gained |
probably benign |
|
|
R5792:4930433I11Rik
|
UTSW |
7 |
40,642,945 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6160:4930433I11Rik
|
UTSW |
7 |
40,642,950 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6300:4930433I11Rik
|
UTSW |
7 |
40,642,885 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6349:4930433I11Rik
|
UTSW |
7 |
40,644,196 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6755:4930433I11Rik
|
UTSW |
7 |
40,643,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:4930433I11Rik
|
UTSW |
7 |
40,644,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7156:4930433I11Rik
|
UTSW |
7 |
40,643,282 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7232:4930433I11Rik
|
UTSW |
7 |
40,642,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7318:4930433I11Rik
|
UTSW |
7 |
40,643,111 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7395:4930433I11Rik
|
UTSW |
7 |
40,639,102 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7925:4930433I11Rik
|
UTSW |
7 |
40,643,506 (GRCm39) |
nonsense |
probably null |
|
|
R8726:4930433I11Rik
|
UTSW |
7 |
40,644,226 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9190:4930433I11Rik
|
UTSW |
7 |
40,642,880 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9488:4930433I11Rik
|
UTSW |
7 |
40,643,212 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF003:4930433I11Rik
|
UTSW |
7 |
40,642,479 (GRCm39) |
small deletion |
probably benign |
|
|
RF004:4930433I11Rik
|
UTSW |
7 |
40,642,479 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGACTCTTTTGCAGTGGTGGAAAT -3'
(R):5'- CTTTCTCTTCCAGACCCAGGTGGAT -3'
Sequencing Primer
(F):5'- AATGGATACATCCCTGGGATTGTC -3'
(R):5'- CCAAGCTGTCATTGTCAGAAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation