Incidental Mutation 'IGL00778:4930503E14Rik'
ID8466
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930503E14Rik
Ensembl Gene ENSMUSG00000072595
Gene NameRIKEN cDNA 4930503E14 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL00778
Quality Score
Status
Chromosome14
Chromosomal Location44163169-44213254 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 44163934 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 152 (H152Y)
Ref Sequence ENSEMBL: ENSMUSP00000098254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100688]
Predicted Effect probably benign
Transcript: ENSMUST00000100688
AA Change: H152Y

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000098254
Gene: ENSMUSG00000072595
AA Change: H152Y

DomainStartEndE-ValueType
Pfam:Takusan 48 128 3e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226475
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,086,132 D457G probably benign Het
Atp8a1 T G 5: 67,659,903 K913N possibly damaging Het
Cd180 G A 13: 102,705,409 S321N probably benign Het
Cdc14b T C 13: 64,215,656 N264D probably damaging Het
Cenpf A T 1: 189,654,912 C1724S probably benign Het
Chil4 A G 3: 106,201,797 S397P probably benign Het
Clpb C T 7: 101,778,608 R387* probably null Het
Csgalnact2 A T 6: 118,126,272 M1K probably null Het
Enpp3 C A 10: 24,798,262 C380F probably damaging Het
Gtf3c1 G A 7: 125,667,374 R967W probably damaging Het
Hnrnpr T A 4: 136,339,545 D472E unknown Het
Klhl28 A T 12: 64,950,066 D500E probably damaging Het
Lmo7 C T 14: 101,910,885 probably benign Het
Mphosph8 A G 14: 56,674,443 I308V probably benign Het
Myo6 T A 9: 80,283,586 probably null Het
Nsmaf C T 4: 6,435,056 probably null Het
Padi6 T A 4: 140,727,623 I668L possibly damaging Het
Pigw A G 11: 84,877,324 I393T possibly damaging Het
Prg3 G A 2: 84,993,732 C212Y probably damaging Het
Pwp1 T C 10: 85,879,888 V267A probably benign Het
Raver2 C A 4: 101,096,271 Q79K probably benign Het
Sdr9c7 T C 10: 127,909,828 S270P probably damaging Het
Sfmbt2 A G 2: 10,402,007 E39G probably damaging Het
Strada A G 11: 106,171,150 probably benign Het
Xrn1 T C 9: 95,973,447 probably benign Het
Zic3 A G X: 58,034,419 Y424C probably damaging Het
Other mutations in 4930503E14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01995:4930503E14Rik APN 14 44163845 utr 3 prime probably benign
R2925:4930503E14Rik UTSW 14 44170298 missense probably damaging 0.98
R4067:4930503E14Rik UTSW 14 44169184 missense probably damaging 0.99
R4347:4930503E14Rik UTSW 14 44171178 missense probably damaging 0.96
R4414:4930503E14Rik UTSW 14 44169233 missense probably benign 0.00
R4504:4930503E14Rik UTSW 14 44170442 missense probably damaging 0.98
R5047:4930503E14Rik UTSW 14 44169241 missense possibly damaging 0.87
R7489:4930503E14Rik UTSW 14 44170299 missense probably damaging 0.99
Posted On2012-12-06