Incidental Mutation 'IGL00778:4930503E14Rik'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930503E14Rik
Ensembl Gene ENSMUSG00000072595
Gene NameRIKEN cDNA 4930503E14 gene
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL00778
Quality Score
Chromosomal Location44163169-44213254 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 44163934 bp
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

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