Incidental Mutation 'IGL03351:4932414N04Rik'
ID419697
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: 0.080) question?
Stock #IGL03351
Quality Score
Status
Chromosome2
Chromosomal Location68656486-68748467 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 68731083 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 251 (D251E)
Ref Sequence ENSEMBL: ENSMUSP00000135792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055930] [ENSMUST00000128259]
Predicted Effect probably benign
Transcript: ENSMUST00000055930
AA Change: D251E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324
AA Change: D251E

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 probably benign
Transcript: ENSMUST00000128259
AA Change: D251E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324
AA Change: D251E

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550L24Rik G A X: 58,918,937 V19I probably benign Het
4932415D10Rik T C 10: 82,283,567 probably benign Het
5730460C07Rik C T 3: 153,789,958 noncoding transcript Het
Coch G A 12: 51,603,206 R326Q probably benign Het
Cpa3 A G 3: 20,215,962 V366A probably benign Het
Csf1r C T 18: 61,117,108 Q382* probably null Het
Csta1 C A 16: 36,131,041 G4* probably null Het
Cts7 T C 13: 61,356,603 R49G probably damaging Het
Dlg5 A G 14: 24,170,454 V575A probably benign Het
Ero1l G T 14: 45,294,533 N227K probably benign Het
Faap24 G T 7: 35,395,309 C58* probably null Het
Gm13089 G A 4: 143,697,088 T377I possibly damaging Het
Hfm1 G A 5: 106,911,575 Q194* probably null Het
Hs3st5 T A 10: 36,833,323 Y285N probably damaging Het
Hyal6 G A 6: 24,743,429 G375R probably damaging Het
Itgb5 T C 16: 33,910,552 S93P probably benign Het
Kcnj6 A T 16: 94,832,583 M205K probably damaging Het
Kdm6a C T X: 18,247,104 Q92* probably null Het
Klhl38 A G 15: 58,323,330 M1T probably null Het
Krtap7-1 T C 16: 89,507,996 probably benign Het
L1cam T C X: 73,863,028 T270A probably damaging Het
Lmod2 A G 6: 24,598,016 N45S probably benign Het
Mmp2 A G 8: 92,839,342 I424V probably benign Het
Myh8 A G 11: 67,303,913 Q1650R possibly damaging Het
Naalad2 T A 9: 18,364,187 E313V possibly damaging Het
Nipsnap3a A G 4: 52,994,134 T74A probably benign Het
Npr2 G T 4: 43,640,652 M368I probably benign Het
Nupl1 T C 14: 60,228,775 T445A probably benign Het
Olfr294 A G 7: 86,615,677 Y323H possibly damaging Het
Olfr582 A G 7: 103,042,130 D212G probably damaging Het
Pkp3 A G 7: 141,082,693 T73A probably benign Het
Pole A G 5: 110,301,998 probably benign Het
Ppp2r3a C T 9: 101,211,192 G644D probably benign Het
Ptprb T C 10: 116,339,582 Y1161H probably benign Het
Ptprs T A 17: 56,437,943 K264N probably damaging Het
Rasal2 T C 1: 157,192,741 probably benign Het
Serpina6 A T 12: 103,646,913 I376N probably damaging Het
Setx T G 2: 29,161,799 I2062M probably benign Het
Slc9c1 A G 16: 45,543,168 D99G probably benign Het
Taok1 A G 11: 77,560,328 Y309H probably damaging Het
Trappc10 T C 10: 78,188,761 D1178G probably damaging Het
Trav5-1 G A 14: 52,622,845 E36K probably damaging Het
Vmn1r237 T C 17: 21,314,837 V274A probably benign Het
Vmn1r29 A T 6: 58,307,750 S152C probably damaging Het
Washc5 C A 15: 59,363,350 probably benign Het
Zfp369 T G 13: 65,296,153 L370R possibly damaging Het
Zfp750 T C 11: 121,513,347 Y234C 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
IGL02737:4932414N04Rik APN 2 68736560 missense possibly damaging 0.53
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 On2016-08-02