Incidental Mutation 'R5792:4930433I11Rik'
ID |
447022 |
Institutional Source |
Beutler Lab
|
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 # |
R5792 (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 40642945 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 296
(I296F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146117
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171664]
[ENSMUST00000206529]
|
AlphaFold |
A0A0U1RPT6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171664
AA Change: I205F
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000131120 Gene: ENSMUSG00000091692 AA Change: I205F
Domain | Start | End | E-Value | Type |
Pfam:DUF4629
|
208 |
354 |
2.2e-60 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206360
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206529
AA Change: I296F
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
95% (56/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
C |
T |
18: 58,970,584 (GRCm39) |
T56M |
possibly damaging |
Het |
Axdnd1 |
T |
G |
1: 156,169,459 (GRCm39) |
E802D |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,938,048 (GRCm39) |
V2630A |
probably benign |
Het |
Capn5 |
A |
T |
7: 97,780,402 (GRCm39) |
F323I |
probably benign |
Het |
Ccn1 |
T |
C |
3: 145,354,413 (GRCm39) |
D166G |
probably benign |
Het |
Cdc25b |
A |
G |
2: 131,033,679 (GRCm39) |
E206G |
probably damaging |
Het |
Cmah |
T |
G |
13: 24,640,898 (GRCm39) |
N382K |
probably benign |
Het |
Col11a1 |
A |
T |
3: 113,925,242 (GRCm39) |
D25V |
probably damaging |
Het |
Cyp2d41-ps |
G |
T |
15: 82,663,421 (GRCm39) |
|
noncoding transcript |
Het |
Cyp3a59 |
A |
G |
5: 146,036,661 (GRCm39) |
K288E |
possibly damaging |
Het |
Dclre1a |
A |
C |
19: 56,518,022 (GRCm39) |
I1019S |
probably damaging |
Het |
Fat2 |
G |
T |
11: 55,153,151 (GRCm39) |
A3687D |
possibly damaging |
Het |
Flg2 |
T |
A |
3: 93,110,804 (GRCm39) |
V944E |
unknown |
Het |
Galntl5 |
T |
C |
5: 25,403,461 (GRCm39) |
V177A |
possibly damaging |
Het |
Gm12695 |
T |
C |
4: 96,616,520 (GRCm39) |
T438A |
probably benign |
Het |
Gm14295 |
A |
T |
2: 176,502,807 (GRCm39) |
N766Y |
probably benign |
Het |
Gm15433 |
T |
A |
1: 84,941,833 (GRCm39) |
|
noncoding transcript |
Het |
Gm2431 |
C |
T |
7: 141,812,069 (GRCm39) |
G8E |
unknown |
Het |
Gm5435 |
T |
A |
12: 82,542,200 (GRCm39) |
|
noncoding transcript |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Grip1 |
T |
C |
10: 119,821,385 (GRCm39) |
I350T |
probably benign |
Het |
Guf1 |
T |
A |
5: 69,717,829 (GRCm39) |
F196I |
probably damaging |
Het |
Kcng4 |
G |
T |
8: 120,353,018 (GRCm39) |
D297E |
probably damaging |
Het |
Khdrbs2 |
G |
A |
1: 32,511,773 (GRCm39) |
R246Q |
probably damaging |
Het |
Layn |
T |
C |
9: 50,979,461 (GRCm39) |
E148G |
probably damaging |
Het |
Lrig3 |
T |
A |
10: 125,845,788 (GRCm39) |
V739E |
probably damaging |
Het |
Lyg1 |
A |
G |
1: 37,986,348 (GRCm39) |
W129R |
probably benign |
Het |
Nup210l |
C |
T |
3: 90,107,164 (GRCm39) |
T1567I |
probably damaging |
Het |
Nus1 |
T |
A |
10: 52,305,352 (GRCm39) |
L12* |
probably null |
Het |
Odad2 |
T |
C |
18: 7,217,965 (GRCm39) |
N583S |
probably benign |
Het |
Or1n2 |
A |
G |
2: 36,797,113 (GRCm39) |
I52V |
probably benign |
Het |
Or6a2 |
A |
T |
7: 106,600,650 (GRCm39) |
V139D |
possibly damaging |
Het |
Otop1 |
A |
G |
5: 38,455,260 (GRCm39) |
N218S |
probably benign |
Het |
Pcif1 |
T |
A |
2: 164,727,299 (GRCm39) |
N90K |
probably damaging |
Het |
Phf2 |
T |
C |
13: 48,973,518 (GRCm39) |
|
probably null |
Het |
Piezo2 |
T |
A |
18: 63,279,927 (GRCm39) |
I215F |
probably damaging |
Het |
Pitpnm2 |
G |
T |
5: 124,268,384 (GRCm39) |
C553* |
probably null |
Het |
Prdm1 |
A |
G |
10: 44,326,224 (GRCm39) |
V115A |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,634,616 (GRCm39) |
D3587G |
probably damaging |
Het |
Sez6l |
A |
T |
5: 112,569,890 (GRCm39) |
Y883* |
probably null |
Het |
Sh3rf2 |
A |
C |
18: 42,244,203 (GRCm39) |
H223P |
probably damaging |
Het |
Slco1a5 |
C |
T |
6: 142,187,839 (GRCm39) |
C500Y |
probably damaging |
Het |
Slf1 |
T |
A |
13: 77,214,856 (GRCm39) |
H610L |
probably benign |
Het |
Syn3 |
T |
C |
10: 86,130,492 (GRCm39) |
*244W |
probably null |
Het |
Sytl2 |
A |
T |
7: 90,024,897 (GRCm39) |
D295V |
probably damaging |
Het |
Tnfrsf1a |
T |
A |
6: 125,335,040 (GRCm39) |
C44S |
probably damaging |
Het |
Ttc6 |
T |
G |
12: 57,719,990 (GRCm39) |
L854V |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,596,602 (GRCm39) |
I18358V |
probably benign |
Het |
Vmn2r108 |
A |
G |
17: 20,683,398 (GRCm39) |
V602A |
probably damaging |
Het |
Zap70 |
A |
G |
1: 36,818,090 (GRCm39) |
|
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,304,303 (GRCm39) |
E1227G |
possibly damaging |
Het |
Znhit3 |
G |
A |
11: 84,806,910 (GRCm39) |
|
probably null |
Het |
Zpbp2 |
A |
G |
11: 98,442,236 (GRCm39) |
|
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 |
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 |
|
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'- TCTGACAATGACAGCTTGGG -3'
(R):5'- CTCCAAGTCCTTAGCCATGTTG -3'
Sequencing Primer
(F):5'- ACTGGACAGTTTGAAGGTGTCCAC -3'
(R):5'- AGCCATGTTGTCAATAGCCCTG -3'
|
Posted On |
2016-12-15 |