Incidental Mutation 'R0850:4930433I11Rik'
ID |
82514 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4930433I11Rik
|
Ensembl Gene |
ENSMUSG00000091692 |
Gene Name |
RIKEN cDNA 4930433I11 gene |
Synonyms |
LOC243944 |
MMRRC Submission |
039029-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R0850 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
T |
G |
3: 59,659,669 (GRCm39) |
I374R |
possibly damaging |
Het |
Agbl3 |
T |
A |
6: 34,776,139 (GRCm39) |
F210Y |
probably damaging |
Het |
Dgkq |
A |
G |
5: 108,802,444 (GRCm39) |
V418A |
possibly damaging |
Het |
Dmp1 |
A |
T |
5: 104,360,653 (GRCm39) |
D443V |
possibly damaging |
Het |
Elapor2 |
T |
A |
5: 9,467,993 (GRCm39) |
N220K |
probably damaging |
Het |
Elavl3 |
T |
G |
9: 21,948,059 (GRCm39) |
D35A |
probably damaging |
Het |
Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
Fbxw25 |
T |
C |
9: 109,478,685 (GRCm39) |
K425R |
probably benign |
Het |
Gypa |
A |
G |
8: 81,222,974 (GRCm39) |
H26R |
unknown |
Het |
H2-DMb1 |
T |
C |
17: 34,374,536 (GRCm39) |
V62A |
probably benign |
Het |
Helb |
T |
C |
10: 119,941,272 (GRCm39) |
H472R |
probably damaging |
Het |
Herc1 |
T |
G |
9: 66,373,952 (GRCm39) |
V3197G |
probably damaging |
Het |
Herc2 |
C |
A |
7: 55,854,231 (GRCm39) |
N3712K |
probably benign |
Het |
Herc6 |
T |
C |
6: 57,560,227 (GRCm39) |
V89A |
possibly damaging |
Het |
Hspa1l |
A |
G |
17: 35,196,599 (GRCm39) |
T213A |
probably benign |
Het |
Kcna7 |
T |
C |
7: 45,058,855 (GRCm39) |
S381P |
probably damaging |
Het |
Kif19a |
C |
A |
11: 114,671,613 (GRCm39) |
P164Q |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,368,195 (GRCm39) |
S2189P |
probably benign |
Het |
Mpo |
A |
G |
11: 87,688,328 (GRCm39) |
N329S |
probably damaging |
Het |
Mrps15 |
A |
G |
4: 125,942,479 (GRCm39) |
Y76C |
probably damaging |
Het |
Or51a42 |
T |
A |
7: 103,708,252 (GRCm39) |
M186L |
probably benign |
Het |
Or6c75 |
T |
C |
10: 129,337,593 (GRCm39) |
V280A |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,858,773 (GRCm39) |
R1506G |
possibly damaging |
Het |
Ptprb |
A |
T |
10: 116,138,030 (GRCm39) |
Q311H |
possibly damaging |
Het |
Ptprb |
T |
C |
10: 116,175,415 (GRCm39) |
Y1137H |
probably damaging |
Het |
Scaf8 |
A |
G |
17: 3,246,049 (GRCm39) |
|
probably null |
Het |
Slc25a1 |
A |
T |
16: 17,745,145 (GRCm39) |
F105Y |
probably benign |
Het |
Slc29a4 |
T |
C |
5: 142,704,327 (GRCm39) |
V327A |
probably benign |
Het |
Spmip3 |
A |
G |
1: 177,568,571 (GRCm39) |
T23A |
probably benign |
Het |
Tmed10 |
A |
G |
12: 85,390,279 (GRCm39) |
F195L |
probably benign |
Het |
Tmem45a2 |
T |
A |
16: 56,865,732 (GRCm39) |
I151F |
probably benign |
Het |
Vmn2r93 |
C |
A |
17: 18,525,279 (GRCm39) |
F312L |
possibly damaging |
Het |
Zfp326 |
A |
G |
5: 106,026,663 (GRCm39) |
|
probably null |
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 |
R0862:4930433I11Rik
|
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'- TCTTTTGCAGTGGTGGAAATGGATACA -3'
(R):5'- CTTTCTCTTCCAGACCCAGGTGGAT -3'
Sequencing Primer
(F):5'- GGATACATCCCTGGGATTGTCAC -3'
(R):5'- CCAAGCTGTCATTGTCAGAAG -3'
|
Posted On |
2013-11-08 |