Incidental Mutation 'IGL01376:4930568D16Rik'
ID78737
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930568D16Rik
Ensembl Gene ENSMUSG00000026882
Gene NameRIKEN cDNA 4930568D16 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL01376
Quality Score
Status
Chromosome2
Chromosomal Location35354218-35367729 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 35355628 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 61 (I61K)
Ref Sequence ENSEMBL: ENSMUSP00000028243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028243]
Predicted Effect probably benign
Transcript: ENSMUST00000028243
AA Change: I61K

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000028243
Gene: ENSMUSG00000026882
AA Change: I61K

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 11 319 1.3e-101 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik A G 1: 37,628,344 L207P probably damaging Het
Acot12 A G 13: 91,784,671 Y521C probably damaging Het
Anxa7 T C 14: 20,460,456 N313D probably benign Het
Cdk14 T C 5: 5,010,839 I327M probably damaging Het
Clca3b T C 3: 144,826,051 N664S possibly damaging Het
Cpb1 A C 3: 20,270,324 L62R probably benign Het
Eef2 G A 10: 81,178,049 probably benign Het
Enox1 T C 14: 77,251,843 probably benign Het
Esco1 A T 18: 10,594,892 C131* probably null Het
Etv1 A T 12: 38,857,040 D347V probably damaging Het
Fat1 A G 8: 45,026,841 I2975V probably benign Het
Ghsr A G 3: 27,371,828 E11G probably benign Het
Gins4 T C 8: 23,227,327 D166G probably benign Het
Iglv2 G T 16: 19,260,565 H62N possibly damaging Het
Irf2bp1 T C 7: 19,006,027 S531P possibly damaging Het
Lrig3 T A 10: 125,994,466 F144L probably benign Het
Magi1 C T 6: 94,283,093 R77Q possibly damaging Het
Mlkl A G 8: 111,319,747 L298P probably damaging Het
Ndc1 T C 4: 107,375,197 L193P probably damaging Het
Npas3 A T 12: 54,044,586 T308S probably benign Het
Nt5dc3 A T 10: 86,834,164 Q541L probably benign Het
Olfr1084 A C 2: 86,639,609 V33G probably benign Het
Olfr1115 T C 2: 87,252,873 V312A possibly damaging Het
Parp10 G T 15: 76,241,677 T437K probably benign Het
Phf3 A G 1: 30,830,485 V494A possibly damaging Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Sars2 T A 7: 28,749,883 Y307N probably damaging Het
Serping1 A T 2: 84,770,185 V271E probably damaging Het
Sgpl1 G A 10: 61,114,070 P117S probably damaging Het
Slc38a1 A C 15: 96,585,556 L297R probably damaging Het
Strbp A G 2: 37,645,651 M15T probably damaging Het
Tdp2 A G 13: 24,836,949 probably null Het
Tex10 T C 4: 48,456,740 Y657C possibly damaging Het
Xrcc4 A T 13: 90,062,050 S92T probably benign Het
Other mutations in 4930568D16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01701:4930568D16Rik APN 2 35364764 missense possibly damaging 0.95
IGL02049:4930568D16Rik APN 2 35364789 missense probably benign 0.03
R0112:4930568D16Rik UTSW 2 35354803 missense probably benign 0.06
R1778:4930568D16Rik UTSW 2 35354983 missense probably damaging 1.00
R2398:4930568D16Rik UTSW 2 35354860 missense possibly damaging 0.86
R3846:4930568D16Rik UTSW 2 35354558 missense probably damaging 1.00
R4648:4930568D16Rik UTSW 2 35354446 missense probably damaging 1.00
R5239:4930568D16Rik UTSW 2 35354836 missense probably benign 0.38
R5418:4930568D16Rik UTSW 2 35354726 missense probably damaging 1.00
R5889:4930568D16Rik UTSW 2 35354449 missense probably damaging 1.00
R5951:4930568D16Rik UTSW 2 35354799 missense probably damaging 1.00
R6014:4930568D16Rik UTSW 2 35354869 missense probably benign 0.00
R6091:4930568D16Rik UTSW 2 35362336 missense possibly damaging 0.77
R7363:4930568D16Rik UTSW 2 35354770 missense probably damaging 1.00
R7773:4930568D16Rik UTSW 2 35354594 missense probably damaging 1.00
Posted On2013-11-05