Incidental Mutation 'IGL02380:4930433I11Rik'
ID |
291330 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
4930433I11Rik
|
Ensembl Gene |
ENSMUSG00000091692 |
Gene Name |
RIKEN cDNA 4930433I11 gene |
Synonyms |
LOC243944 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL02380
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
40637033-40644257 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 40643968 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 546
(P546T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131120
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171664]
[ENSMUST00000206529]
|
AlphaFold |
A0A0U1RPT6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171664
AA Change: P546T
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000131120 Gene: ENSMUSG00000091692 AA Change: P546T
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: P637T
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,241,599 (GRCm39) |
I1154T |
possibly damaging |
Het |
Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
Acsm5 |
A |
T |
7: 119,136,509 (GRCm39) |
Q360L |
probably benign |
Het |
Adamtsl5 |
T |
C |
10: 80,177,612 (GRCm39) |
E350G |
probably benign |
Het |
Adgrl2 |
A |
T |
3: 148,534,125 (GRCm39) |
L1017* |
probably null |
Het |
Aqr |
T |
C |
2: 113,940,417 (GRCm39) |
D1243G |
probably damaging |
Het |
Arhgef17 |
G |
T |
7: 100,578,650 (GRCm39) |
P766Q |
possibly damaging |
Het |
Bclaf1 |
T |
C |
10: 20,201,113 (GRCm39) |
V413A |
possibly damaging |
Het |
Bcr |
A |
G |
10: 75,011,131 (GRCm39) |
D14G |
probably benign |
Het |
Cadps2 |
C |
T |
6: 23,287,731 (GRCm39) |
V1190I |
probably benign |
Het |
Cdh9 |
A |
G |
15: 16,856,086 (GRCm39) |
I709V |
possibly damaging |
Het |
Cnbd1 |
C |
A |
4: 18,887,748 (GRCm39) |
|
probably null |
Het |
Cnbd1 |
T |
A |
4: 18,887,749 (GRCm39) |
|
probably null |
Het |
Col4a3 |
T |
C |
1: 82,650,509 (GRCm39) |
|
probably benign |
Het |
Coro1a |
T |
A |
7: 126,302,288 (GRCm39) |
K20* |
probably null |
Het |
Crb2 |
T |
A |
2: 37,673,447 (GRCm39) |
D114E |
probably damaging |
Het |
Dnah6 |
C |
A |
6: 73,053,623 (GRCm39) |
K2870N |
probably benign |
Het |
Fpr3 |
A |
G |
17: 18,191,254 (GRCm39) |
H175R |
probably benign |
Het |
Gk5 |
T |
G |
9: 96,032,533 (GRCm39) |
S248A |
possibly damaging |
Het |
Grm4 |
T |
A |
17: 27,653,635 (GRCm39) |
I772F |
probably damaging |
Het |
Gstt4 |
A |
G |
10: 75,653,073 (GRCm39) |
I163T |
possibly damaging |
Het |
Hr |
A |
G |
14: 70,795,201 (GRCm39) |
R278G |
probably damaging |
Het |
Igfbp5 |
T |
A |
1: 72,903,108 (GRCm39) |
R156* |
probably null |
Het |
Ighv1-4 |
G |
A |
12: 114,450,753 (GRCm39) |
|
probably benign |
Het |
Insyn2a |
A |
T |
7: 134,500,873 (GRCm39) |
|
probably null |
Het |
Kcna2 |
A |
C |
3: 107,012,274 (GRCm39) |
Q285P |
probably benign |
Het |
Klf5 |
A |
T |
14: 99,538,894 (GRCm39) |
R102S |
possibly damaging |
Het |
Ldb1 |
A |
T |
19: 46,022,929 (GRCm39) |
M252K |
possibly damaging |
Het |
Lrrc66 |
T |
C |
5: 73,787,009 (GRCm39) |
I114V |
possibly damaging |
Het |
Map1b |
A |
T |
13: 99,567,651 (GRCm39) |
I1690N |
unknown |
Het |
Myo1a |
A |
G |
10: 127,550,354 (GRCm39) |
T565A |
probably benign |
Het |
Nt5c |
T |
C |
11: 115,382,127 (GRCm39) |
D84G |
possibly damaging |
Het |
Pde1b |
A |
G |
15: 103,428,417 (GRCm39) |
N51S |
possibly damaging |
Het |
Pikfyve |
T |
A |
1: 65,295,180 (GRCm39) |
L1437Q |
probably damaging |
Het |
Pld5 |
C |
T |
1: 175,967,610 (GRCm39) |
V82I |
probably damaging |
Het |
Psmb6 |
T |
A |
11: 70,416,737 (GRCm39) |
N42K |
probably benign |
Het |
Slco3a1 |
G |
A |
7: 74,204,238 (GRCm39) |
S34F |
probably damaging |
Het |
Slfn9 |
A |
G |
11: 82,872,046 (GRCm39) |
Y897H |
probably benign |
Het |
Spag6l |
T |
C |
16: 16,581,033 (GRCm39) |
|
probably null |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tmem215 |
A |
T |
4: 40,474,534 (GRCm39) |
I204F |
probably benign |
Het |
Txnl1 |
A |
G |
18: 63,807,114 (GRCm39) |
|
probably null |
Het |
Ube2q2 |
T |
A |
9: 55,070,296 (GRCm39) |
D79E |
probably benign |
Het |
Ugt2a3 |
T |
C |
5: 87,484,658 (GRCm39) |
D122G |
probably benign |
Het |
Vmn2r73 |
A |
T |
7: 85,507,383 (GRCm39) |
I643K |
probably benign |
Het |
Xkrx |
T |
A |
X: 133,051,388 (GRCm39) |
H421L |
probably benign |
Het |
|
Other mutations in 4930433I11Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2015-04-16 |