Incidental Mutation 'IGL02001:4930444G20Rik'
ID183032
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930444G20Rik
Ensembl Gene ENSMUSG00000069712
Gene NameRIKEN cDNA 4930444G20 gene
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.276) question?
Stock #IGL02001
Quality Score
Status
Chromosome10
Chromosomal Location22066307-22068079 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 22067277 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 268 (M268K)
Ref Sequence ENSEMBL: ENSMUSP00000097613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092672]
Predicted Effect probably benign
Transcript: ENSMUST00000092672
AA Change: M268K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000097613
Gene: ENSMUSG00000069712
AA Change: M268K

DomainStartEndE-ValueType
low complexity region 194 205 N/A INTRINSIC
Pfam:Peptidase_C48 315 494 1.9e-45 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik T C 17: 48,166,674 N25S possibly damaging Het
Als2 A T 1: 59,180,188 probably benign Het
Asah2 T A 19: 32,043,539 K255* probably null Het
Bclaf1 A G 10: 20,323,016 probably benign Het
Bpifb2 T C 2: 153,891,275 probably benign Het
Cacna2d2 G A 9: 107,522,116 V669I probably benign Het
Cep89 T A 7: 35,403,007 probably benign Het
Chl1 T G 6: 103,642,056 L29R possibly damaging Het
Defb2 T C 8: 21,843,337 Y43H probably damaging Het
Disc1 A G 8: 125,251,042 Y799C probably damaging Het
Egf G T 3: 129,716,768 A34E probably damaging Het
Fat2 A T 11: 55,312,245 M1K probably null Het
Gprin1 T C 13: 54,739,192 E423G probably damaging Het
Kcnh6 T C 11: 106,027,549 probably benign Het
Kcnt1 A G 2: 25,908,152 E925G probably damaging Het
Kctd16 A T 18: 40,258,680 K107I possibly damaging Het
Lrig1 T C 6: 94,607,324 K913R probably benign Het
March7 A G 2: 60,234,891 T504A possibly damaging Het
Mrpl11 C T 19: 4,963,652 R154* probably null Het
Nlrp4a T C 7: 26,449,969 F334L probably benign Het
Olfr30 C T 11: 58,455,509 V147M probably benign Het
Olfr545 T A 7: 102,494,539 T79S probably benign Het
Parp6 A G 9: 59,649,961 T610A possibly damaging Het
Pcdhb15 T G 18: 37,474,038 L108V probably benign Het
Pomgnt1 G T 4: 116,152,908 E156* probably null Het
Psma2 T G 13: 14,623,607 F105V possibly damaging Het
Rapgef4 A G 2: 72,225,052 probably benign Het
Sclt1 A T 3: 41,681,721 S282T possibly damaging Het
Serpina3f A G 12: 104,219,466 Y310C probably damaging Het
Sh3pxd2a T C 19: 47,273,447 K331R probably damaging Het
Tectb T C 19: 55,189,595 F183L possibly damaging Het
Tgfbr1 A G 4: 47,403,388 H327R probably damaging Het
Try10 T A 6: 41,356,589 D89E probably benign Het
Ttn G A 2: 76,756,784 S21623L probably damaging Het
Ttn A G 2: 76,781,938 L15489P probably damaging Het
Vdac3-ps1 A G 13: 18,031,388 noncoding transcript Het
Vmn2r69 T A 7: 85,407,226 Q568L probably benign Het
Wdr36 T A 18: 32,852,888 D548E probably damaging Het
Zfand4 T A 6: 116,273,652 H14Q probably benign Het
Other mutations in 4930444G20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02546:4930444G20Rik APN 10 22066927 missense probably damaging 1.00
IGL02885:4930444G20Rik APN 10 22067158 missense possibly damaging 0.94
R0543:4930444G20Rik UTSW 10 22066924 missense possibly damaging 0.88
R1762:4930444G20Rik UTSW 10 22067512 missense probably benign 0.02
R2249:4930444G20Rik UTSW 10 22067116 missense possibly damaging 0.77
R2354:4930444G20Rik UTSW 10 22067256 missense probably benign 0.19
R2870:4930444G20Rik UTSW 10 22067379 missense probably benign
R2870:4930444G20Rik UTSW 10 22067379 missense probably benign
R3777:4930444G20Rik UTSW 10 22066962 missense probably damaging 1.00
R4117:4930444G20Rik UTSW 10 22067716 missense probably benign
R4644:4930444G20Rik UTSW 10 22066761 missense probably benign 0.02
R5002:4930444G20Rik UTSW 10 22067817 missense probably damaging 0.99
R5667:4930444G20Rik UTSW 10 22066843 missense possibly damaging 0.91
R5671:4930444G20Rik UTSW 10 22066843 missense possibly damaging 0.91
R6694:4930444G20Rik UTSW 10 22067721 missense probably damaging 0.99
R6810:4930444G20Rik UTSW 10 22066717 missense probably damaging 1.00
R6923:4930444G20Rik UTSW 10 22067755 missense probably damaging 1.00
R6942:4930444G20Rik UTSW 10 22067261 missense probably benign
R7065:4930444G20Rik UTSW 10 22067298 missense probably benign 0.00
Posted On2014-05-07