Incidental Mutation 'R0960:4930433I11Rik'
ID |
81824 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4930433I11Rik
|
Ensembl Gene |
ENSMUSG00000091692 |
Gene Name |
RIKEN cDNA 4930433I11 gene |
Synonyms |
LOC243944 |
MMRRC Submission |
039089-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R0960 (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: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009A15Rik |
T |
C |
19: 8,867,792 (GRCm39) |
V256A |
probably benign |
Het |
4930474N05Rik |
C |
A |
14: 35,818,367 (GRCm39) |
H122N |
probably benign |
Het |
Aamp |
T |
C |
1: 74,320,304 (GRCm39) |
T341A |
possibly damaging |
Het |
Adam26a |
A |
T |
8: 44,021,800 (GRCm39) |
H563Q |
probably damaging |
Het |
Ankrd13a |
G |
A |
5: 114,924,868 (GRCm39) |
E118K |
probably benign |
Het |
Asic5 |
A |
G |
3: 81,913,847 (GRCm39) |
I174V |
probably benign |
Het |
Atad2b |
G |
A |
12: 5,056,593 (GRCm39) |
|
probably benign |
Het |
Bub1b |
A |
G |
2: 118,437,161 (GRCm39) |
I120V |
probably benign |
Het |
Casp8 |
T |
C |
1: 58,868,172 (GRCm39) |
|
probably null |
Het |
Cdk5rap2 |
A |
G |
4: 70,161,745 (GRCm39) |
Y254H |
probably benign |
Het |
Clasp1 |
T |
C |
1: 118,479,756 (GRCm39) |
I996T |
probably benign |
Het |
Cntn6 |
A |
G |
6: 104,751,441 (GRCm39) |
I294V |
probably benign |
Het |
Flnc |
A |
G |
6: 29,441,511 (GRCm39) |
D431G |
probably damaging |
Het |
Gm4884 |
T |
A |
7: 40,692,232 (GRCm39) |
M67K |
possibly damaging |
Het |
Hmx3 |
T |
C |
7: 131,145,043 (GRCm39) |
Y118H |
probably benign |
Het |
Hsf2bp |
C |
T |
17: 32,226,743 (GRCm39) |
R204H |
probably damaging |
Het |
Il12b |
G |
T |
11: 44,299,315 (GRCm39) |
C128F |
probably damaging |
Het |
Ints6 |
T |
C |
14: 62,947,015 (GRCm39) |
M317V |
probably benign |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
Kif27 |
T |
C |
13: 58,471,781 (GRCm39) |
E769G |
probably damaging |
Het |
Kif28 |
G |
A |
1: 179,523,370 (GRCm39) |
Q987* |
probably null |
Het |
Klhdc3 |
T |
C |
17: 46,987,444 (GRCm39) |
H330R |
possibly damaging |
Het |
Leo1 |
G |
A |
9: 75,352,522 (GRCm39) |
E22K |
probably benign |
Het |
Lpcat2 |
C |
T |
8: 93,596,338 (GRCm39) |
T125M |
probably benign |
Het |
Map1a |
A |
G |
2: 121,132,124 (GRCm39) |
Y742C |
probably benign |
Het |
Mllt6 |
C |
T |
11: 97,555,772 (GRCm39) |
|
probably benign |
Het |
Mpp2 |
A |
G |
11: 101,952,411 (GRCm39) |
V354A |
possibly damaging |
Het |
Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
Myo10 |
A |
G |
15: 25,801,275 (GRCm39) |
E1488G |
probably damaging |
Het |
Neb |
A |
G |
2: 52,102,995 (GRCm39) |
V4461A |
probably benign |
Het |
Nudcd1 |
G |
T |
15: 44,291,047 (GRCm39) |
|
probably benign |
Het |
Or10ag59 |
T |
C |
2: 87,406,279 (GRCm39) |
Y284H |
probably benign |
Het |
Or2w1b |
A |
C |
13: 21,300,435 (GRCm39) |
D191A |
possibly damaging |
Het |
Pde1a |
G |
A |
2: 79,695,378 (GRCm39) |
|
probably benign |
Het |
Sdha |
A |
T |
13: 74,471,303 (GRCm39) |
|
probably benign |
Het |
Selenoo |
T |
G |
15: 88,980,957 (GRCm39) |
I432S |
probably benign |
Het |
Sh3gl2 |
A |
T |
4: 85,295,717 (GRCm39) |
I140F |
probably damaging |
Het |
Svopl |
G |
T |
6: 37,993,992 (GRCm39) |
Y346* |
probably null |
Het |
Tbc1d17 |
C |
T |
7: 44,497,852 (GRCm39) |
|
probably benign |
Het |
Tlr3 |
A |
C |
8: 45,850,452 (GRCm39) |
I815S |
probably damaging |
Het |
Tmem25 |
T |
A |
9: 44,706,809 (GRCm39) |
|
probably null |
Het |
Tpd52 |
A |
T |
3: 9,008,650 (GRCm39) |
|
probably null |
Het |
Tspoap1 |
A |
T |
11: 87,661,421 (GRCm39) |
|
probably benign |
Het |
Txndc11 |
A |
T |
16: 10,909,453 (GRCm39) |
D364E |
probably benign |
Het |
Unc5cl |
G |
T |
17: 48,766,624 (GRCm39) |
|
probably benign |
Het |
Vmn1r13 |
A |
G |
6: 57,186,996 (GRCm39) |
M52V |
probably benign |
Het |
Zap70 |
T |
C |
1: 36,818,254 (GRCm39) |
Y314H |
probably damaging |
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 |
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 |