Incidental Mutation 'R0498:4930433I11Rik'
ID 40602
Institutional Source Beutler Lab
Gene Symbol 4930433I11Rik
Ensembl Gene ENSMUSG00000091692
Gene Name RIKEN cDNA 4930433I11 gene
Synonyms LOC243944
MMRRC Submission 038694-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R0498 (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 40642718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 220 (D220V)
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: D129V

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000131120
Gene: ENSMUSG00000091692
AA Change: D129V

DomainStartEndE-ValueType
Pfam:DUF4629 208 354 2.2e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206360
Predicted Effect probably benign
Transcript: ENSMUST00000206529
AA Change: D220V

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 A G 17: 43,025,206 (GRCm39) probably benign Het
Aldh18a1 A G 19: 40,562,716 (GRCm39) V219A probably benign Het
Anapc10 A G 8: 80,501,610 (GRCm39) D126G probably benign Het
Ap1m2 T C 9: 21,207,129 (GRCm39) *426W probably null Het
Arhgap21 A G 2: 20,867,928 (GRCm39) I865T probably damaging Het
Armc8 A G 9: 99,379,345 (GRCm39) V527A probably damaging Het
Asic5 A T 3: 81,913,778 (GRCm39) probably benign Het
Baz2b A C 2: 59,732,340 (GRCm39) probably benign Het
Bpifa5 T C 2: 154,009,169 (GRCm39) V237A probably damaging Het
Brip1 T A 11: 86,088,745 (GRCm39) K52I possibly damaging Het
Cacna1g T C 11: 94,350,685 (GRCm39) I387V probably damaging Het
Cbr4 A G 8: 61,948,107 (GRCm39) I135V probably benign Het
Ccdc66 C T 14: 27,222,197 (GRCm39) probably null Het
Cubn G A 2: 13,449,078 (GRCm39) T999M probably damaging Het
Dnai3 G T 3: 145,787,119 (GRCm39) D305E possibly damaging Het
Dpp8 C T 9: 64,953,077 (GRCm39) probably benign Het
Dsg1b T C 18: 20,542,390 (GRCm39) S966P possibly damaging Het
Erp27 T C 6: 136,896,862 (GRCm39) probably benign Het
Fat4 A T 3: 39,034,786 (GRCm39) I2813L probably benign Het
Fhod1 G A 8: 106,056,488 (GRCm39) R1101C probably damaging Het
Hoxc9 T C 15: 102,892,359 (GRCm39) S191P probably damaging Het
Izumo4 T C 10: 80,540,030 (GRCm39) probably null Het
Kalrn C T 16: 33,875,261 (GRCm39) D104N possibly damaging Het
Kank4 A T 4: 98,667,873 (GRCm39) D191E probably benign Het
Kbtbd11 A G 8: 15,077,605 (GRCm39) E68G probably benign Het
Kdr C T 5: 76,119,798 (GRCm39) V654I probably benign Het
Klra1 A T 6: 130,349,782 (GRCm39) probably null Het
Kmt2e T A 5: 23,683,970 (GRCm39) Y373* probably null Het
Lepr A T 4: 101,602,889 (GRCm39) M226L probably benign Het
Lrp1b T A 2: 41,348,417 (GRCm39) I800F probably benign Het
Lta4h T C 10: 93,307,833 (GRCm39) probably benign Het
Map3k7 T C 4: 31,974,814 (GRCm39) probably benign Het
Map4k4 G A 1: 40,029,338 (GRCm39) R371Q probably benign Het
Mgat4f A G 1: 134,318,610 (GRCm39) I461V possibly damaging Het
Mme A G 3: 63,253,487 (GRCm39) I444V probably damaging Het
Mms19 C T 19: 41,938,212 (GRCm39) R582Q possibly damaging Het
Mtss1 A G 15: 58,817,286 (GRCm39) S502P probably damaging Het
Myo3a G T 2: 22,467,441 (GRCm39) A232S possibly damaging Het
Nwd2 G T 5: 63,963,686 (GRCm39) W1090L probably damaging Het
Or4k15 A C 14: 50,364,750 (GRCm39) T239P probably damaging Het
Or8b12 G A 9: 37,657,550 (GRCm39) G40E probably damaging Het
Pcm1 G A 8: 41,746,806 (GRCm39) S1335N probably benign Het
Pdzph1 A G 17: 59,280,825 (GRCm39) F486L probably benign Het
Piezo2 T C 18: 63,235,245 (GRCm39) K552R possibly damaging Het
Plekhs1 T A 19: 56,469,536 (GRCm39) probably null Het
Pprc1 C T 19: 46,060,007 (GRCm39) Q1514* probably null Het
Ralgapa1 T C 12: 55,736,576 (GRCm39) T1831A possibly damaging Het
Rnpep G T 1: 135,193,090 (GRCm39) D455E probably damaging Het
Rpgrip1 T A 14: 52,368,771 (GRCm39) probably benign Het
Saxo1 A T 4: 86,397,133 (GRCm39) M135K possibly damaging Het
Serpina12 T C 12: 104,002,048 (GRCm39) T223A probably damaging Het
Serpinb3a A G 1: 106,974,880 (GRCm39) F218L probably damaging Het
Serpinb9f T G 13: 33,509,990 (GRCm39) probably benign Het
Spata33 A G 8: 123,948,662 (GRCm39) D98G probably benign Het
Stard13 T A 5: 150,975,942 (GRCm39) Y742F probably damaging Het
Tecta A G 9: 42,288,910 (GRCm39) Y552H probably damaging Het
Tie1 A T 4: 118,336,358 (GRCm39) probably benign Het
Tmem161a A G 8: 70,633,623 (GRCm39) T254A probably benign Het
Tmem30a G T 9: 79,681,376 (GRCm39) Y264* probably null Het
Tmem87a A T 2: 120,224,946 (GRCm39) I105K probably benign Het
Tnrc6b A T 15: 80,742,920 (GRCm39) D51V probably damaging Het
Trgc3 T A 13: 19,445,262 (GRCm39) M70K probably damaging Het
Trpc4 T C 3: 54,198,632 (GRCm39) F519L probably damaging Het
Ttn T C 2: 76,539,925 (GRCm39) T26027A probably damaging Het
Vmn1r198 A C 13: 22,539,144 (GRCm39) H121P probably damaging Het
Vps33a A G 5: 123,709,024 (GRCm39) F64L probably benign Het
Zfp1008 T C 13: 62,755,201 (GRCm39) N39S probably damaging Het
Zfp994 A T 17: 22,419,882 (GRCm39) C356S probably damaging 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
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
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'- AGATGGAAGTTGAGCACTTGATGCC -3'
(R):5'- TTGTCAATAGCCCTGCCACTGACC -3'

Sequencing Primer
(F):5'- ATGCCTCGGGATGCCTATAAG -3'
(R):5'- CTCCAGACAACTGTGGAGTCTTTAG -3'
Posted On 2013-05-23