Incidental Mutation 'R4124:4930433I11Rik'
ID 315317
Institutional Source Beutler Lab
Gene Symbol 4930433I11Rik
Ensembl Gene ENSMUSG00000091692
Gene Name RIKEN cDNA 4930433I11 gene
Synonyms LOC243944
MMRRC Submission 041632-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R4124 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 40637033-40644257 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40643345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 338 (M338K)
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: M338K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131120
Gene: ENSMUSG00000091692
AA Change: M338K

DomainStartEndE-ValueType
Pfam:DUF4629 208 354 2.2e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206360
Predicted Effect probably damaging
Transcript: ENSMUST00000206529
AA Change: M429K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.3367 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (35/35)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik T A 2: 68,446,568 (GRCm39) probably benign Het
Adamtsl4 C T 3: 95,588,982 (GRCm39) R483Q probably benign Het
Aldh7a1 A T 18: 56,670,395 (GRCm39) probably benign Het
Ank T C 15: 27,571,709 (GRCm39) F327S probably damaging Het
Ap2b1 A G 11: 83,256,471 (GRCm39) probably null Het
Cd6 G T 19: 10,767,972 (GRCm39) P630T probably damaging Het
Cdk19 A G 10: 40,270,391 (GRCm39) I67V probably benign Het
D630003M21Rik C T 2: 158,038,513 (GRCm39) V978M probably damaging Het
Dsp A G 13: 38,370,689 (GRCm39) D864G probably damaging Het
Duox1 A G 2: 122,167,902 (GRCm39) R1062G probably damaging Het
Fbp2 T C 13: 63,002,755 (GRCm39) E99G probably damaging Het
Fras1 A G 5: 96,918,512 (GRCm39) D3516G probably benign Het
Gpx6 C T 13: 21,501,815 (GRCm39) Q146* probably null Het
Grid2 A T 6: 63,480,417 (GRCm39) Q77L probably benign Het
Hrh1 T C 6: 114,457,580 (GRCm39) V287A probably benign Het
Kmt2a T C 9: 44,731,093 (GRCm39) probably benign Het
Mak A T 13: 41,210,106 (GRCm39) D43E probably benign Het
Or14j8 A G 17: 38,263,681 (GRCm39) I78T probably benign Het
Poln A G 5: 34,261,295 (GRCm39) S561P probably benign Het
Ptpn11 T C 5: 121,275,520 (GRCm39) S562G probably benign Het
Pxn A G 5: 115,684,966 (GRCm39) R264G probably damaging Het
Rell2 A G 18: 38,091,267 (GRCm39) H144R probably benign Het
Rpgrip1 T C 14: 52,389,781 (GRCm39) probably null Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slamf9 T C 1: 172,303,808 (GRCm39) I51T probably damaging Het
Tep1 C T 14: 51,081,191 (GRCm39) R1349Q possibly damaging Het
Tgtp2 T C 11: 48,950,238 (GRCm39) I111M probably damaging Het
Trip11 G A 12: 101,861,957 (GRCm39) Q203* probably null Het
Vmn1r215 A T 13: 23,260,163 (GRCm39) T68S probably benign Het
Ypel2 A G 11: 86,836,753 (GRCm39) probably null 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
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'- AAGTGTCACCCATCATGCCC -3'
(R):5'- CTTGCCTGGAGTTTCGTCAG -3'

Sequencing Primer
(F):5'- ATCATGCCCAGCAGAGCTAGG -3'
(R):5'- AGTTTCGTCAGGGCCCTG -3'
Posted On 2015-05-14