Incidental Mutation 'IGL02380:4930433I11Rik'
ID291330
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930433I11Rik
Ensembl Gene ENSMUSG00000091692
Gene NameRIKEN cDNA 4930433I11 gene
SynonymsLOC243944
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #IGL02380
Quality Score
Status
Chromosome7
Chromosomal Location40987543-40995435 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 40994544 bp
ZygosityHeterozygous
Amino Acid Change Proline to Threonine at position 546 (P546T)
Ref Sequence ENSEMBL: ENSMUSP00000131120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171664] [ENSMUST00000206529]
Predicted Effect possibly damaging
Transcript: ENSMUST00000171664
AA Change: P546T

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000131120
Gene: ENSMUSG00000091692
AA Change: P546T

DomainStartEndE-ValueType
Pfam:DUF4629 208 354 2.2e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206360
Predicted Effect probably benign
Transcript: ENSMUST00000206529
AA Change: P637T

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,291,599 I1154T possibly damaging Het
Abca8a A G 11: 110,078,815 probably benign Het
Acsm5 A T 7: 119,537,286 Q360L probably benign Het
Adamtsl5 T C 10: 80,341,778 E350G probably benign Het
Adgrl2 A T 3: 148,828,489 L1017* probably null Het
Aqr T C 2: 114,109,936 D1243G probably damaging Het
Arhgef17 G T 7: 100,929,443 P766Q possibly damaging Het
Bclaf1 T C 10: 20,325,367 V413A possibly damaging Het
Bcr A G 10: 75,175,299 D14G probably benign Het
Cadps2 C T 6: 23,287,732 V1190I probably benign Het
Cdh9 A G 15: 16,856,000 I709V possibly damaging Het
Cnbd1 C A 4: 18,887,748 probably null Het
Cnbd1 T A 4: 18,887,749 probably null Het
Col4a3 T C 1: 82,672,788 probably benign Het
Coro1a T A 7: 126,703,116 K20* probably null Het
Crb2 T A 2: 37,783,435 D114E probably damaging Het
Dnah6 C A 6: 73,076,640 K2870N probably benign Het
Fam196a A T 7: 134,899,144 probably null Het
Fpr3 A G 17: 17,970,992 H175R probably benign Het
Gk5 T G 9: 96,150,480 S248A possibly damaging Het
Grm4 T A 17: 27,434,661 I772F probably damaging Het
Gstt4 A G 10: 75,817,239 I163T possibly damaging Het
Hr A G 14: 70,557,761 R278G probably damaging Het
Igfbp5 T A 1: 72,863,949 R156* probably null Het
Ighv1-4 G A 12: 114,487,133 probably benign Het
Kcna2 A C 3: 107,104,958 Q285P probably benign Het
Klf5 A T 14: 99,301,458 R102S possibly damaging Het
Ldb1 A T 19: 46,034,490 M252K possibly damaging Het
Lrrc66 T C 5: 73,629,666 I114V possibly damaging Het
Map1b A T 13: 99,431,143 I1690N unknown Het
Myo1a A G 10: 127,714,485 T565A probably benign Het
Nt5c T C 11: 115,491,301 D84G possibly damaging Het
Pde1b A G 15: 103,519,990 N51S possibly damaging Het
Pikfyve T A 1: 65,256,021 L1437Q probably damaging Het
Pld5 C T 1: 176,140,044 V82I probably damaging Het
Psmb6 T A 11: 70,525,911 N42K probably benign Het
Slco3a1 G A 7: 74,554,490 S34F probably damaging Het
Slfn9 A G 11: 82,981,220 Y897H probably benign Het
Spag6l T C 16: 16,763,169 probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tmem215 A T 4: 40,474,534 I204F probably benign Het
Txnl1 A G 18: 63,674,043 probably null Het
Ube2q2 T A 9: 55,163,012 D79E probably benign Het
Ugt2a3 T C 5: 87,336,799 D122G probably benign Het
Vmn2r73 A T 7: 85,858,175 I643K probably benign Het
Xkrx T A X: 134,150,639 H421L probably benign Het
Other mutations in 4930433I11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4304:4930433I11Rik UTSW 7 40993056 small deletion probably benign
FR4340:4930433I11Rik UTSW 7 40993055 small deletion probably benign
FR4342:4930433I11Rik UTSW 7 40993055 small deletion probably benign
FR4548:4930433I11Rik UTSW 7 40993056 small deletion probably benign
R0498:4930433I11Rik UTSW 7 40993294 missense probably benign 0.11
R0610:4930433I11Rik UTSW 7 40993056 missense probably benign 0.22
R0704:4930433I11Rik UTSW 7 40993957 missense probably damaging 1.00
R0723:4930433I11Rik UTSW 7 40993056 missense probably benign 0.22
R0826:4930433I11Rik UTSW 7 40993056 missense probably benign 0.22
R0850:4930433I11Rik UTSW 7 40993056 missense probably benign 0.22
R0862:4930433I11Rik UTSW 7 40993056 missense probably benign 0.22
R0863:4930433I11Rik UTSW 7 40993056 missense probably benign 0.22
R0960:4930433I11Rik UTSW 7 40993056 missense probably benign 0.22
R0961:4930433I11Rik UTSW 7 40993056 missense probably benign 0.22
R0964:4930433I11Rik UTSW 7 40993056 missense probably benign 0.22
R1099:4930433I11Rik UTSW 7 40993056 missense probably benign 0.22
R1101:4930433I11Rik UTSW 7 40993056 missense probably benign 0.22
R1167:4930433I11Rik UTSW 7 40993579 missense probably damaging 1.00
R1401:4930433I11Rik UTSW 7 40993056 missense probably benign 0.22
R1429:4930433I11Rik UTSW 7 40993056 missense probably benign 0.22
R1462:4930433I11Rik UTSW 7 40992946 nonsense probably null
R1462:4930433I11Rik UTSW 7 40992946 nonsense probably null
R1816:4930433I11Rik UTSW 7 40994798 nonsense probably null
R1852:4930433I11Rik UTSW 7 40993613 missense probably benign 0.29
R3814:4930433I11Rik UTSW 7 40992919 missense probably damaging 0.99
R4124:4930433I11Rik UTSW 7 40993921 missense probably damaging 1.00
R4823:4930433I11Rik UTSW 7 40993362 missense probably benign 0.00
R5092:4930433I11Rik UTSW 7 40987667 start gained probably benign
R5792:4930433I11Rik UTSW 7 40993521 missense possibly damaging 0.76
R6160:4930433I11Rik UTSW 7 40993526 missense possibly damaging 0.91
R6300:4930433I11Rik UTSW 7 40993461 missense possibly damaging 0.91
R6349:4930433I11Rik UTSW 7 40994772 missense possibly damaging 0.89
R6755:4930433I11Rik UTSW 7 40994310 missense probably damaging 1.00
Posted On2015-04-16