Incidental Mutation 'R9488:4930433I11Rik'
ID 716748
Institutional Source Beutler Lab
Gene Symbol 4930433I11Rik
Ensembl Gene ENSMUSG00000091692
Gene Name RIKEN cDNA 4930433I11 gene
Synonyms LOC243944
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R9488 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 40637033-40644257 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40643212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 294 (I294L)
Ref Sequence ENSEMBL: ENSMUSP00000131120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171664] [ENSMUST00000206529]
AlphaFold A0A0U1RPT6
Predicted Effect probably benign
Transcript: ENSMUST00000171664
AA Change: I294L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000131120
Gene: ENSMUSG00000091692
AA Change: I294L

DomainStartEndE-ValueType
Pfam:DUF4629 208 354 2.2e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206529
AA Change: I385L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 A T 3: 96,589,343 (GRCm39) K187N probably damaging Het
Arhgap40 C T 2: 158,391,571 (GRCm39) T631M possibly damaging Het
Arpin T C 7: 79,584,979 (GRCm39) Y5C probably damaging Het
B020011L13Rik A G 1: 117,728,724 (GRCm39) Y77C Het
Cdk17 A G 10: 93,044,066 (GRCm39) K2E probably damaging Het
Cdk18 A G 1: 132,049,260 (GRCm39) F86L probably benign Het
Cfap418 A G 4: 10,893,271 (GRCm39) D130G probably damaging Het
Clca4a T C 3: 144,659,532 (GRCm39) T775A probably damaging Het
Clvs2 T A 10: 33,389,301 (GRCm39) D313V possibly damaging Het
Col6a5 T C 9: 105,741,788 (GRCm39) Y2377C probably damaging Het
Drd2 T C 9: 49,311,094 (GRCm39) V115A probably damaging Het
Dsp A G 13: 38,377,218 (GRCm39) R1668G probably benign Het
Eif2d T A 1: 131,082,962 (GRCm39) V102E probably damaging Het
Fmo4 A G 1: 162,631,337 (GRCm39) V210A probably damaging Het
Galntl5 A G 5: 25,415,437 (GRCm39) R323G probably damaging Het
Git2 T C 5: 114,904,533 (GRCm39) T129A probably benign Het
Gm572 A G 4: 148,752,913 (GRCm39) H264R possibly damaging Het
Hnrnpll T C 17: 80,369,385 (GRCm39) T13A unknown Het
Ighv7-4 T C 12: 114,186,619 (GRCm39) Y51C probably damaging Het
Irag2 G A 6: 145,113,753 (GRCm39) R307Q probably damaging Het
Jam2 A G 16: 84,619,676 (GRCm39) D289G probably damaging Het
Krt27 A G 11: 99,239,535 (GRCm39) probably null Het
Lama5 T C 2: 179,823,234 (GRCm39) N2704S possibly damaging Het
Lhx8 A T 3: 154,033,764 (GRCm39) S70T possibly damaging Het
Lmo7 C A 14: 102,122,783 (GRCm39) T324N possibly damaging Het
Man2a1 A G 17: 65,040,734 (GRCm39) T907A possibly damaging Het
Map3k4 C T 17: 12,489,860 (GRCm39) A524T probably damaging Het
Mga C T 2: 119,795,304 (GRCm39) A2996V possibly damaging Het
Mybpc1 A T 10: 88,379,624 (GRCm39) M625K possibly damaging Het
Ncald T A 15: 37,372,369 (GRCm39) N159Y probably damaging Het
Nfasc T C 1: 132,527,866 (GRCm39) T832A possibly damaging Het
P2rx5 T A 11: 73,056,427 (GRCm39) I117N Het
Pcdhb3 C A 18: 37,435,416 (GRCm39) R461S possibly damaging Het
Polr1b T C 2: 128,967,417 (GRCm39) S937P probably damaging Het
Prep C A 10: 44,996,807 (GRCm39) Q362K Het
Prg4 T C 1: 150,327,024 (GRCm39) M342V probably benign Het
Prr14 A T 7: 127,073,687 (GRCm39) T184S possibly damaging Het
Prss58 A G 6: 40,874,382 (GRCm39) I98T probably benign Het
Pum3 T C 19: 27,394,188 (GRCm39) T361A probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,129 (GRCm39) probably benign Het
Sema4c A G 1: 36,591,067 (GRCm39) V424A probably benign Het
Sema6a A T 18: 47,437,216 (GRCm39) I58N probably damaging Het
Slc13a3 T A 2: 165,250,851 (GRCm39) Y506F probably damaging Het
Slc15a2 A G 16: 36,579,651 (GRCm39) V365A probably benign Het
Slc39a5 G A 10: 128,233,628 (GRCm39) L290F probably damaging Het
Spata31f1a A G 4: 42,850,560 (GRCm39) V532A probably benign Het
Taf6l T C 19: 8,759,436 (GRCm39) T161A probably benign Het
Tbl2 T A 5: 135,187,471 (GRCm39) C243S probably benign Het
Tet2 A T 3: 133,193,103 (GRCm39) S444T probably benign Het
Thoc1 C T 18: 9,992,168 (GRCm39) L499F probably damaging Het
Tnc A G 4: 63,913,942 (GRCm39) V1290A probably damaging Het
Tnpo1 T C 13: 98,990,003 (GRCm39) D716G probably damaging Het
Tpp2 A T 1: 44,041,272 (GRCm39) K1236N probably benign Het
Tshr T C 12: 91,504,589 (GRCm39) V509A probably damaging Het
U2surp T C 9: 95,356,535 (GRCm39) T775A Het
Ubap2l T C 3: 89,928,656 (GRCm39) T486A probably benign Het
Usp28 C A 9: 48,935,288 (GRCm39) P457T probably damaging Het
Usp44 A G 10: 93,682,851 (GRCm39) I387V possibly damaging Het
Vmn1r225 A G 17: 20,722,793 (GRCm39) D78G probably damaging Het
Vps13b T C 15: 35,447,880 (GRCm39) M537T possibly damaging Het
Wdr6 G A 9: 108,453,182 (GRCm39) R234C probably damaging Het
Zfp1005 G A 2: 150,110,477 (GRCm39) G389D unknown Het
Zfp949 C A 9: 88,452,182 (GRCm39) T584N 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
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
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'- ACCATGACACCTCTGAGTTG -3'
(R):5'- TCTTCTTCCCCAGAGGATGG -3'

Sequencing Primer
(F):5'- CCATGACACCTCTGAGTTGATTGATG -3'
(R):5'- GATGGAAGACCTGCACAGACTC -3'
Posted On 2022-07-18