Incidental Mutation 'R0964:4930433I11Rik'
ID 81476
Institutional Source Beutler Lab
Gene Symbol 4930433I11Rik
Ensembl Gene ENSMUSG00000091692
Gene Name RIKEN cDNA 4930433I11 gene
Synonyms LOC243944
MMRRC Submission 039093-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R0964 (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

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 98% (55/56)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,367,813 (GRCm39) M1604L possibly damaging Het
Acp3 A G 9: 104,204,174 (GRCm39) V40A possibly damaging Het
Adgrl1 T C 8: 84,661,041 (GRCm39) probably benign Het
Alppl2 C T 1: 87,015,446 (GRCm39) V372I possibly damaging Het
Apol8 C T 15: 77,633,811 (GRCm39) S255N probably benign Het
Atp8b4 A T 2: 126,179,413 (GRCm39) F973I probably damaging Het
Bbs4 A G 9: 59,230,259 (GRCm39) *150Q probably null Het
Bltp3a A T 17: 28,106,152 (GRCm39) T893S probably damaging Het
Cacna1h A T 17: 25,597,749 (GRCm39) probably benign Het
Ccn1 C A 3: 145,353,503 (GRCm39) C353F probably damaging Het
Ccser2 C T 14: 36,630,965 (GRCm39) probably benign Het
Chd9 A G 8: 91,741,832 (GRCm39) E1607G probably benign Het
Clca4b A G 3: 144,621,337 (GRCm39) I579T probably benign Het
Col20a1 T A 2: 180,626,278 (GRCm39) probably benign Het
Creg2 T C 1: 39,664,144 (GRCm39) I205V probably benign Het
Ddx24 C T 12: 103,390,166 (GRCm39) R275H probably damaging Het
Dip2c G A 13: 9,618,699 (GRCm39) A579T probably benign Het
Dnah3 T C 7: 119,551,962 (GRCm39) probably benign Het
Dnah8 G A 17: 30,892,894 (GRCm39) probably null Het
Gckr T C 5: 31,484,259 (GRCm39) probably benign Het
Gpbp1l1 A G 4: 116,438,436 (GRCm39) probably benign Het
Hmcn2 A G 2: 31,281,523 (GRCm39) T1913A probably benign Het
Lmo7 T C 14: 102,158,003 (GRCm39) probably benign Het
Meioc G A 11: 102,570,857 (GRCm39) V863I probably damaging Het
Myh1 A G 11: 67,096,751 (GRCm39) I341V probably benign Het
Myh1 A G 11: 67,112,430 (GRCm39) D1799G probably damaging Het
Myh13 A G 11: 67,235,828 (GRCm39) T664A probably benign Het
Myo3b A C 2: 70,257,193 (GRCm39) D1269A probably damaging Het
Nckap1 A G 2: 80,378,243 (GRCm39) probably null Het
Nr3c2 A G 8: 77,635,297 (GRCm39) probably null Het
Nxpe5 T C 5: 138,238,186 (GRCm39) S249P probably damaging Het
Or52z1 C T 7: 103,436,604 (GRCm39) M293I probably benign Het
Or8k16 A G 2: 85,520,709 (GRCm39) N312S probably benign Het
Or9a4 T C 6: 40,549,139 (GRCm39) V273A probably benign Het
Pitpnm3 G A 11: 71,949,296 (GRCm39) T675I probably damaging Het
Plekhm1 C A 11: 103,285,908 (GRCm39) E176* probably null Het
Prdm11 C A 2: 92,819,567 (GRCm39) probably benign Het
Prodh2 C A 7: 30,205,706 (GRCm39) R218S probably damaging Het
Rps15a T C 7: 117,714,060 (GRCm39) D54G probably benign Het
Sbno2 G T 10: 79,920,093 (GRCm39) T46N possibly damaging Het
Sdk2 A G 11: 113,697,243 (GRCm39) probably benign Het
Sema3c T C 5: 17,926,907 (GRCm39) F567L probably damaging Het
Slc36a1 A G 11: 55,116,780 (GRCm39) probably benign Het
Spaca6 A T 17: 18,058,653 (GRCm39) E284V possibly damaging Het
Srsf3 C A 17: 29,255,412 (GRCm39) L66I probably damaging Het
Srsf3 T A 17: 29,255,413 (GRCm39) L66Q probably damaging Het
Syne1 T C 10: 4,993,652 (GRCm39) T8363A possibly damaging Het
Trmt1 T A 8: 85,423,481 (GRCm39) L298Q probably damaging Het
Uba6 T C 5: 86,267,260 (GRCm39) I923V possibly damaging Het
Vmn2r106 G A 17: 20,487,859 (GRCm39) H847Y probably benign Het
Vmn2r15 T C 5: 109,445,401 (GRCm39) T8A probably benign Het
Zbtb39 C G 10: 127,578,175 (GRCm39) Q250E probably benign Het
Zbtb41 T G 1: 139,366,769 (GRCm39) F583V probably damaging Het
Zfp938 T A 10: 82,061,253 (GRCm39) I456F probably benign Het
Other mutations in 4930433I11Rik
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CCTTGACTCTTTTGCAGTGGTGGAAAT -3'
(R):5'- CTTTCTCTTCCAGACCCAGGTGGAT -3'

Sequencing Primer
(F):5'- AATGGATACATCCCTGGGATTGTC -3'
(R):5'- CCAAGCTGTCATTGTCAGAAG -3'
Posted On 2013-11-07