Incidental Mutation 'IGL01979:4930435E12Rik'
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ID181798
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930435E12Rik
Ensembl Gene ENSMUSG00000022798
Gene NameRIKEN cDNA 4930435E12 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.018) question?
Stock #IGL01979
Quality Score
Status
Chromosome16
Chromosomal Location38812206-38828749 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 38827893 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 285 (S285A)
Ref Sequence ENSEMBL: ENSMUSP00000113120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122078]
Predicted Effect possibly damaging
Transcript: ENSMUST00000122078
AA Change: S285A

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113120
Gene: ENSMUSG00000022798
AA Change: S285A

DomainStartEndE-ValueType
low complexity region 86 97 N/A INTRINSIC
low complexity region 244 254 N/A INTRINSIC
low complexity region 307 317 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130241
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209595
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 C T 3: 138,429,027 probably benign Het
Ap3b1 T A 13: 94,448,463 L394* probably null Het
Cdk2ap1 C T 5: 124,348,709 V57M probably damaging Het
Csnk2b T A 17: 35,118,016 N65I possibly damaging Het
Dennd4a G A 9: 64,894,409 E945K probably benign Het
Eif2b2 A G 12: 85,219,834 D59G probably benign Het
Ero1l A T 14: 45,287,744 N441K probably damaging Het
Fam91a1 A G 15: 58,432,584 D383G probably damaging Het
Fbxl7 C A 15: 26,789,563 S26I probably damaging Het
Il20 A T 1: 130,911,102 I42K probably damaging Het
Nav3 A G 10: 109,704,929 F1947L probably benign Het
Ncapd3 T A 9: 27,071,965 probably null Het
Numb G T 12: 83,842,277 H23N probably damaging Het
Olfr1419 G A 19: 11,871,223 probably benign Het
Olfr507 A G 7: 108,622,441 I210V probably benign Het
Ppp1r1b C T 11: 98,356,840 T111I probably damaging Het
Rad50 G A 11: 53,686,178 Q528* probably null Het
Scara3 A T 14: 65,930,963 S402T probably benign Het
Sept3 A G 15: 82,284,392 Y132C probably damaging Het
Sim2 C A 16: 94,123,482 N495K possibly damaging Het
Slc9b1 A G 3: 135,371,982 probably null Het
Tanc2 A G 11: 105,776,920 D109G probably benign Het
Traf1 T C 2: 34,943,893 I404V probably benign Het
Vmn2r68 C A 7: 85,222,117 V653L probably benign Het
Wdr93 A T 7: 79,776,652 Q555L probably benign Het
Other mutations in 4930435E12Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01998:4930435E12Rik APN 16 38828224 missense probably benign 0.00
IGL02454:4930435E12Rik APN 16 38827947 missense probably benign 0.02
IGL03216:4930435E12Rik APN 16 38828690 missense possibly damaging 0.59
IGL03325:4930435E12Rik APN 16 38827993 missense probably damaging 1.00
IGL03397:4930435E12Rik APN 16 38828693 missense probably damaging 1.00
R0242:4930435E12Rik UTSW 16 38824567 splice site probably benign
R0446:4930435E12Rik UTSW 16 38828702 missense probably benign 0.01
R0607:4930435E12Rik UTSW 16 38828364 missense probably benign 0.02
R1918:4930435E12Rik UTSW 16 38828088 missense possibly damaging 0.56
R1953:4930435E12Rik UTSW 16 38827913 missense possibly damaging 0.78
R3417:4930435E12Rik UTSW 16 38828740 missense probably benign 0.17
R4601:4930435E12Rik UTSW 16 38828018 missense probably benign 0.14
R4860:4930435E12Rik UTSW 16 38828145 missense probably damaging 0.97
R4860:4930435E12Rik UTSW 16 38828145 missense probably damaging 0.97
R5551:4930435E12Rik UTSW 16 38827974 missense probably benign 0.28
Posted On2014-05-07