Incidental Mutation 'R3814:4930433I11Rik'
| ID |
274192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930433I11Rik
|
| Ensembl Gene |
ENSMUSG00000091692 |
| Gene Name |
RIKEN cDNA 4930433I11 gene |
| Synonyms |
LOC243944 |
| MMRRC Submission |
040769-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R3814 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
40637033-40644257 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40642343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 4
(V4A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171664]
[ENSMUST00000206529]
|
| AlphaFold |
A0A0U1RPT6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171664
AA Change: V4A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131120
Gene: ENSMUSG00000091692
AA Change: V4A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4629
|
208 |
354 |
2.2e-60 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206360
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206529
AA Change: V95A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
C |
T |
3: 121,964,570 (GRCm39) |
|
probably benign |
Het |
| Adam20 |
G |
T |
8: 41,248,712 (GRCm39) |
W274L |
probably damaging |
Het |
| Cep78 |
T |
C |
19: 15,959,166 (GRCm39) |
|
probably null |
Het |
| Clhc1 |
T |
C |
11: 29,521,826 (GRCm39) |
I453T |
possibly damaging |
Het |
| Cyp2c55 |
T |
A |
19: 38,995,509 (GRCm39) |
L7Q |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,383,476 (GRCm39) |
|
probably null |
Het |
| Dpy19l3 |
G |
A |
7: 35,426,717 (GRCm39) |
Q64* |
probably null |
Het |
| Enthd1 |
T |
A |
15: 80,336,883 (GRCm39) |
Y517F |
probably benign |
Het |
| Fndc1 |
T |
C |
17: 7,992,154 (GRCm39) |
H514R |
unknown |
Het |
| G2e3 |
C |
T |
12: 51,400,444 (GRCm39) |
T32I |
probably benign |
Het |
| Glb1l2 |
A |
G |
9: 26,682,330 (GRCm39) |
S302P |
probably benign |
Het |
| Ino80d |
C |
T |
1: 63,113,583 (GRCm39) |
R289Q |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,649,809 (GRCm39) |
L161P |
possibly damaging |
Het |
| Kif19a |
A |
G |
11: 114,672,745 (GRCm39) |
Y256C |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,051,972 (GRCm39) |
E260G |
probably damaging |
Het |
| Map3k5 |
T |
C |
10: 19,901,936 (GRCm39) |
S328P |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 20,016,426 (GRCm39) |
V1339D |
probably damaging |
Het |
| Mib1 |
G |
A |
18: 10,763,281 (GRCm39) |
V444M |
probably benign |
Het |
| Mon2 |
T |
C |
10: 122,849,470 (GRCm39) |
I1277V |
probably damaging |
Het |
| Mvp |
T |
A |
7: 126,586,801 (GRCm39) |
M777L |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 115,947,414 (GRCm39) |
R1423W |
probably damaging |
Het |
| Prdm16 |
T |
C |
4: 154,412,750 (GRCm39) |
E1085G |
probably damaging |
Het |
| Prune1 |
A |
C |
3: 95,172,750 (GRCm39) |
V105G |
probably damaging |
Het |
| Rbpj |
G |
T |
5: 53,810,514 (GRCm39) |
E399* |
probably null |
Het |
| Rp1 |
C |
A |
1: 4,419,931 (GRCm39) |
V394L |
probably benign |
Het |
| S100a4 |
G |
A |
3: 90,513,152 (GRCm39) |
A83T |
probably benign |
Het |
| Satb1 |
T |
C |
17: 52,089,935 (GRCm39) |
H304R |
probably damaging |
Het |
| Slc6a17 |
T |
C |
3: 107,378,633 (GRCm39) |
E680G |
possibly damaging |
Het |
| Tbc1d4 |
A |
T |
14: 101,696,191 (GRCm39) |
I919N |
possibly damaging |
Het |
| Vmn2r102 |
A |
T |
17: 19,899,093 (GRCm39) |
K478N |
probably damaging |
Het |
| Zfp619 |
A |
C |
7: 39,184,823 (GRCm39) |
R284S |
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 |
|
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 |
|
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'- TGCATTGGTCTCAAAAGTGTCTG -3'
(R):5'- GGCGAGGAATTCTGAATGGC -3'
Sequencing Primer
(F):5'- TGGTCTCAAAAGTGTCTGCCAAG -3'
(R):5'- CTAGGGATAGAGGTTGTTAATGGCCC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation