Incidental Mutation 'IGL02737:4932414N04Rik'
ID305703
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4932414N04Rik
Ensembl Gene ENSMUSG00000079324
Gene NameRIKEN cDNA 4932414N04 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL02737
Quality Score
Status
Chromosome2
Chromosomal Location68656486-68748467 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 68736560 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 434 (H434Q)
Ref Sequence ENSEMBL: ENSMUSP00000135792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055930] [ENSMUST00000128259]
Predicted Effect possibly damaging
Transcript: ENSMUST00000055930
AA Change: H434Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324
AA Change: H434Q

DomainStartEndE-ValueType
coiled coil region 154 241 N/A INTRINSIC
Pfam:DUF3496 265 361 8.5e-12 PFAM
internal_repeat_1 456 597 1.76e-26 PROSPERO
internal_repeat_1 601 737 1.76e-26 PROSPERO
Predicted Effect possibly damaging
Transcript: ENSMUST00000128259
AA Change: H434Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324
AA Change: H434Q

DomainStartEndE-ValueType
internal_repeat_1 5 39 6.02e-5 PROSPERO
internal_repeat_1 209 242 6.02e-5 PROSPERO
low complexity region 286 297 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110051M20Rik T A 2: 91,304,797 Q9L probably damaging Het
5430401F13Rik A T 6: 131,552,592 I50L probably benign Het
Ahnak G A 19: 9,004,593 M1080I probably benign Het
Aoc1 A G 6: 48,907,643 K540R probably benign Het
Aplp2 T C 9: 31,153,416 M585V probably benign Het
C3 A G 17: 57,204,281 L1607P probably benign Het
C6 A G 15: 4,796,914 K660E probably benign Het
Cabin1 T C 10: 75,713,585 T1329A probably benign Het
Ccdc141 T A 2: 77,057,924 N499I probably damaging Het
Cdh5 A G 8: 104,142,928 D762G probably damaging Het
Cep152 T C 2: 125,586,474 R746G possibly damaging Het
Cps1 A T 1: 67,148,774 Q198L probably benign Het
D10Wsu102e T A 10: 83,364,445 M90K probably damaging Het
Eri3 T C 4: 117,564,860 F112L probably damaging Het
Fam180a C A 6: 35,313,553 R165L probably benign Het
Fam205a1 C A 4: 42,849,431 L908F possibly damaging Het
Fkbp10 A C 11: 100,422,655 I252L probably benign Het
Gtf2f1 G T 17: 57,003,918 Q410K possibly damaging Het
Hmcn1 T C 1: 150,563,828 Y5535C probably damaging Het
Ifrd2 T A 9: 107,592,170 D372E probably benign Het
Il3ra A G 14: 14,350,760 N165S probably benign Het
Kntc1 A G 5: 123,819,120 N2164S probably benign Het
Krtap19-9a A G 16: 88,924,211 noncoding transcript Het
Olfr103 T A 17: 37,336,773 H153L possibly damaging Het
Pclo T C 5: 14,714,163 S4217P unknown Het
Ppfibp1 G A 6: 147,027,308 V798I probably damaging Het
Prune2 A T 19: 17,193,411 R165* probably null Het
Ptges T C 2: 30,892,686 Y118C probably damaging Het
Rab11fip5 C A 6: 85,348,558 G289W probably damaging Het
Rfc1 T C 5: 65,311,163 D69G possibly damaging Het
Scube1 A G 15: 83,721,843 probably benign Het
Slc5a6 G A 5: 31,037,167 P565L probably benign Het
Sncaip C A 18: 52,907,056 T774K probably benign Het
Specc1l G A 10: 75,246,324 S535N probably damaging Het
Tbk1 C T 10: 121,559,862 G442E probably null Het
Thoc7 A T 14: 13,953,443 M78K possibly damaging Het
Usp15 A G 10: 123,131,032 F461S probably damaging Het
Vmn2r6 T A 3: 64,556,490 I308L possibly damaging Het
Zhx2 C A 15: 57,822,267 T344N probably damaging Het
Other mutations in 4932414N04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:4932414N04Rik APN 2 68732875 missense probably benign 0.02
IGL01384:4932414N04Rik APN 2 68745405 missense possibly damaging 0.53
IGL02170:4932414N04Rik APN 2 68731123 missense probably benign 0.02
IGL02650:4932414N04Rik APN 2 68741537 missense probably benign 0.00
IGL02707:4932414N04Rik APN 2 68731130 missense possibly damaging 0.71
IGL03351:4932414N04Rik APN 2 68731083 missense probably benign
R0328:4932414N04Rik UTSW 2 68744280 missense possibly damaging 0.53
R0362:4932414N04Rik UTSW 2 68732917 missense probably benign 0.00
R0638:4932414N04Rik UTSW 2 68717228 missense probably benign 0.18
R1201:4932414N04Rik UTSW 2 68716282 missense possibly damaging 0.53
R1381:4932414N04Rik UTSW 2 68731086 missense probably benign 0.18
R1456:4932414N04Rik UTSW 2 68716214 missense possibly damaging 0.86
R2001:4932414N04Rik UTSW 2 68741456 missense probably benign
R2051:4932414N04Rik UTSW 2 68711048 missense possibly damaging 0.72
R2228:4932414N04Rik UTSW 2 68729591 missense probably benign 0.00
R2292:4932414N04Rik UTSW 2 68732139 missense probably benign 0.00
R2357:4932414N04Rik UTSW 2 68739500 missense possibly damaging 0.86
R2484:4932414N04Rik UTSW 2 68711475 missense possibly damaging 0.85
R3035:4932414N04Rik UTSW 2 68745418 missense probably benign 0.00
R3916:4932414N04Rik UTSW 2 68731985 missense possibly damaging 0.71
R3950:4932414N04Rik UTSW 2 68664403 critical splice donor site probably null
R3951:4932414N04Rik UTSW 2 68664403 critical splice donor site probably null
R3952:4932414N04Rik UTSW 2 68664403 critical splice donor site probably null
R4091:4932414N04Rik UTSW 2 68745378 missense possibly damaging 0.73
R4118:4932414N04Rik UTSW 2 68736513 missense probably benign
R4153:4932414N04Rik UTSW 2 68668597 intron probably benign
R4210:4932414N04Rik UTSW 2 68659878 start gained probably benign
R4614:4932414N04Rik UTSW 2 68745460 missense probably benign 0.01
R4818:4932414N04Rik UTSW 2 68741466 missense probably benign
R5202:4932414N04Rik UTSW 2 68731964 missense probably benign
R5466:4932414N04Rik UTSW 2 68711389 missense probably benign 0.11
R5585:4932414N04Rik UTSW 2 68741426 missense probably benign 0.00
R5602:4932414N04Rik UTSW 2 68748368 makesense probably null
R5846:4932414N04Rik UTSW 2 68732033 missense unknown
R5902:4932414N04Rik UTSW 2 68708937 start codon destroyed probably null
R6002:4932414N04Rik UTSW 2 68662424 splice site probably null
R6029:4932414N04Rik UTSW 2 68694026 splice site probably null
R6093:4932414N04Rik UTSW 2 68659870 splice site probably benign
R6168:4932414N04Rik UTSW 2 68741483 missense possibly damaging 0.86
R6300:4932414N04Rik UTSW 2 68731109 missense possibly damaging 0.96
R6322:4932414N04Rik UTSW 2 68729499 missense probably benign 0.00
R6533:4932414N04Rik UTSW 2 68716318 nonsense probably null
R6547:4932414N04Rik UTSW 2 68659907 utr 5 prime probably benign
X0025:4932414N04Rik UTSW 2 68729016 missense probably benign 0.06
Posted On2015-04-16