Incidental Mutation 'IGL02545:4930523C07Rik'
ID297777
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930523C07Rik
Ensembl Gene ENSMUSG00000090394
Gene NameRIKEN cDNA 4930523C07 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL02545
Quality Score
Status
Chromosome1
Chromosomal Location160044382-160080208 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 160075424 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 88 (L88P)
Ref Sequence ENSEMBL: ENSMUSP00000137410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097513]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000028061
SMART Domains Protein: ENSMUSP00000028061
Gene: ENSMUSG00000026729

DomainStartEndE-ValueType
low complexity region 60 73 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000060298
Predicted Effect probably damaging
Transcript: ENSMUST00000097513
AA Change: L88P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137410
Gene: ENSMUSG00000090394
AA Change: L88P

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163892
SMART Domains Protein: ENSMUSP00000127485
Gene: ENSMUSG00000090394

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169600
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 G A 3: 95,683,374 Q354* probably null Het
Aox3 A C 1: 58,183,486 D1146A probably damaging Het
Ap2a1 T A 7: 44,906,426 H340L probably damaging Het
Ccni G T 5: 93,187,777 F167L probably benign Het
Ctcf A G 8: 105,664,381 T207A probably benign Het
D930020B18Rik A G 10: 121,689,933 H580R possibly damaging Het
Dock3 A T 9: 107,062,072 L159Q probably damaging Het
Dync1i2 T C 2: 71,262,751 I630T possibly damaging Het
Fchsd2 A G 7: 101,198,508 T202A probably benign Het
Gdi2 A G 13: 3,557,009 Y214C probably damaging Het
Gna14 T A 19: 16,533,726 S46R probably damaging Het
Hfm1 A G 5: 106,895,287 I627T probably damaging Het
Ighv1-19 G A 12: 114,708,739 A87V probably damaging Het
Itch G A 2: 155,172,586 probably null Het
Klrb1b T C 6: 128,820,309 Q72R possibly damaging Het
Lrpprc A G 17: 84,775,425 F144L probably benign Het
Lrrc7 A G 3: 158,185,374 probably benign Het
Ndufa11 T A 17: 56,721,338 F72L probably damaging Het
Neu1 T A 17: 34,931,501 V32E probably benign Het
Olfr181 T A 16: 58,926,470 I34F possibly damaging Het
Osmr T C 15: 6,823,579 K611E probably damaging Het
Pcdh20 A G 14: 88,468,844 V340A possibly damaging Het
Pih1d3 A G 1: 31,223,096 D53G probably damaging Het
Plxna2 T A 1: 194,786,690 probably benign Het
Pou6f1 C T 15: 100,583,425 W210* probably null Het
Ppat A G 5: 76,915,232 Y511H probably damaging Het
Psme4 T G 11: 30,841,586 V1147G possibly damaging Het
Scap C T 9: 110,378,690 T489I probably benign Het
Sptb A G 12: 76,607,980 probably null Het
Tcl1b5 T A 12: 105,180,037 probably benign Het
Trim54 T A 5: 31,132,165 probably benign Het
Unc13c C T 9: 73,481,075 R2143Q probably damaging Het
Vmn1r56 A T 7: 5,196,114 V168D probably benign Het
Vmn2r66 A T 7: 85,006,590 M406K possibly damaging Het
Other mutations in 4930523C07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1023:4930523C07Rik UTSW 1 160077487 unclassified probably benign
R1707:4930523C07Rik UTSW 1 160070802 unclassified probably benign
R2128:4930523C07Rik UTSW 1 160075375 nonsense probably null
R2129:4930523C07Rik UTSW 1 160075375 nonsense probably null
R2147:4930523C07Rik UTSW 1 160075433 missense probably benign 0.04
R4135:4930523C07Rik UTSW 1 160077522 unclassified probably benign
R4418:4930523C07Rik UTSW 1 160044802 unclassified noncoding transcript
R4431:4930523C07Rik UTSW 1 160044579 unclassified noncoding transcript
R5222:4930523C07Rik UTSW 1 160044608 unclassified noncoding transcript
R6170:4930523C07Rik UTSW 1 160075173 missense possibly damaging 0.82
R6248:4930523C07Rik UTSW 1 160075408 missense possibly damaging 0.83
R6612:4930523C07Rik UTSW 1 160075234 missense probably damaging 0.97
R7015:4930523C07Rik UTSW 1 160075168 missense possibly damaging 0.66
Posted On2015-04-16