Incidental Mutation 'IGL02615:Aph1c'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aph1c
Ensembl Gene ENSMUSG00000053040
Gene Nameaph1 homolog C, gamma secretase subunit
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02615
Quality Score
Chromosomal Location66814994-66834726 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 66819406 bp
Amino Acid Change Valine to Glutamic Acid at position 222 (V222E)
Ref Sequence ENSEMBL: ENSMUSP00000130359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057261] [ENSMUST00000169282]
Predicted Effect possibly damaging
Transcript: ENSMUST00000057261
AA Change: V172E

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056476
Gene: ENSMUSG00000053040
AA Change: V172E

Pfam:Aph-1 1 196 3.2e-69 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000169282
AA Change: V222E

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130359
Gene: ENSMUSG00000053040
AA Change: V222E

Pfam:Aph-1 2 239 3.2e-91 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice are viable and fertile and do not show any significant aberrations in the brain, kidney, or testis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G T 5: 138,646,140 E96* probably null Het
Adck5 C T 15: 76,589,167 S72L possibly damaging Het
Afdn A G 17: 13,825,976 H404R probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
Bcl2l13 A T 6: 120,862,867 D42V probably damaging Het
Bhlhe22 C T 3: 18,054,900 T38I possibly damaging Het
Ccdc51 A T 9: 109,089,435 T31S probably benign Het
Ctbp2 A G 7: 132,995,347 I669T probably benign Het
Dennd4c A G 4: 86,821,467 T998A probably benign Het
Dpp4 T C 2: 62,359,328 Y410C probably damaging Het
Gli2 T A 1: 118,844,398 N526Y probably damaging Het
Gm12394 C T 4: 42,793,027 M368I probably benign Het
Ighv1-64 A G 12: 115,507,687 I70T possibly damaging Het
Mphosph10 A T 7: 64,381,045 probably benign Het
Mrps34 A G 17: 24,895,793 probably null Het
Myo1f A T 17: 33,604,656 I1053L probably benign Het
Nckap5l G A 15: 99,429,382 P142L possibly damaging Het
Platr26 T A 2: 71,730,426 noncoding transcript Het
Rag2 T A 2: 101,629,568 Y74* probably null Het
Rnf213 A T 11: 119,440,789 M2275L probably damaging Het
Rsbn1 T A 3: 103,953,752 L498Q probably damaging Het
Scp2 A G 4: 108,107,631 V62A probably benign Het
Spag17 A G 3: 100,072,085 I1421V probably benign Het
St6galnac4 A G 2: 32,594,204 H138R probably benign Het
Syne2 T A 12: 76,096,994 M1045K probably damaging Het
Tbxas1 C T 6: 39,027,866 T349M probably damaging Het
U2surp T G 9: 95,493,231 D146A probably benign Het
Usp38 T C 8: 80,985,151 M752V probably benign Het
Other mutations in Aph1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03168:Aph1c APN 9 66833337 splice site probably benign
R0598:Aph1c UTSW 9 66833319 missense probably damaging 1.00
R1519:Aph1c UTSW 9 66833265 missense probably benign 0.07
R2084:Aph1c UTSW 9 66819297 missense probably damaging 1.00
R2853:Aph1c UTSW 9 66834482 splice site probably null
R4233:Aph1c UTSW 9 66833321 missense probably damaging 1.00
R4472:Aph1c UTSW 9 66827769 missense probably damaging 1.00
R4865:Aph1c UTSW 9 66827838 missense probably damaging 1.00
R5435:Aph1c UTSW 9 66834501 missense possibly damaging 0.95
R6710:Aph1c UTSW 9 66834520 missense probably benign 0.00
R6748:Aph1c UTSW 9 66833295 missense probably damaging 1.00
Posted On2015-04-16