Incidental Mutation 'IGL02313:Aph1b'
ID287919
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aph1b
Ensembl Gene ENSMUSG00000032375
Gene Nameaph1 homolog B, gamma secretase subunit
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02313
Quality Score
Status
Chromosome9
Chromosomal Location66775202-66795490 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 66790673 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034934] [ENSMUST00000113730] [ENSMUST00000168309]
Predicted Effect probably benign
Transcript: ENSMUST00000034934
SMART Domains Protein: ENSMUSP00000034934
Gene: ENSMUSG00000032375

DomainStartEndE-ValueType
Pfam:Aph-1 2 238 4.1e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113730
SMART Domains Protein: ENSMUSP00000109359
Gene: ENSMUSG00000032375

DomainStartEndE-ValueType
Pfam:Aph-1 2 119 2.7e-48 PFAM
Pfam:Aph-1 110 204 1.4e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168309
SMART Domains Protein: ENSMUSP00000125816
Gene: ENSMUSG00000032375

DomainStartEndE-ValueType
Pfam:Aph-1 2 172 7.8e-67 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13c T A 3: 157,947,934 N136K probably damaging Het
Atf7ip A G 6: 136,606,720 K1250E probably damaging Het
Atp8b2 T C 3: 89,949,853 N400S probably damaging Het
Brca2 C A 5: 150,538,661 S630Y probably damaging Het
Chd6 T A 2: 160,965,675 E1873V probably damaging Het
Chrna10 T C 7: 102,112,029 probably benign Het
Col6a3 A G 1: 90,811,606 L907P probably damaging Het
Cxcr6 A G 9: 123,810,705 N264S probably damaging Het
Dgkg A G 16: 22,570,230 probably benign Het
Dpysl2 T G 14: 66,824,390 M256L probably benign Het
Dsp G T 13: 38,196,523 E1816* probably null Het
Fam129c A G 8: 71,602,860 R305G possibly damaging Het
Fam13b T C 18: 34,454,656 K530E probably damaging Het
Fam49a A G 12: 12,364,751 T248A possibly damaging Het
Fastk T C 5: 24,443,092 H242R probably damaging Het
Fbxw28 A T 9: 109,337,352 H145Q possibly damaging Het
Heatr6 T C 11: 83,778,892 L910P probably damaging Het
Hmcn2 A G 2: 31,453,605 T4642A possibly damaging Het
Hspg2 A G 4: 137,508,389 T167A probably benign Het
Igsf10 A G 3: 59,330,690 L690P probably benign Het
Klhdc10 G A 6: 30,439,866 probably null Het
Krt31 A G 11: 100,048,396 Y232H probably damaging Het
Lsm3 A G 6: 91,516,088 probably benign Het
Mfn2 T A 4: 147,885,490 I375F probably damaging Het
Mfrp A T 9: 44,102,874 I180F probably damaging Het
Msh3 T C 13: 92,349,312 E168G possibly damaging Het
Naa16 A T 14: 79,384,668 V77D probably damaging Het
Nav2 T C 7: 49,558,773 S1570P probably damaging Het
Numa1 C T 7: 102,000,232 R1057* probably null Het
Nup210l G A 3: 90,122,792 A271T probably damaging Het
Ogdh T C 11: 6,355,400 V965A probably damaging Het
Olfr63 C A 17: 33,269,665 Q314K probably benign Het
Olfr734 A T 14: 50,320,016 V273E probably damaging Het
Olfr818 A G 10: 129,945,903 L53P probably damaging Het
Olfr836 A T 9: 19,121,375 N140I probably damaging Het
Olfr916 T A 9: 38,658,066 I109F probably damaging Het
Pdp2 A T 8: 104,594,899 Q460L probably benign Het
Pex5l T C 3: 32,992,992 T270A probably benign Het
Pkp4 C T 2: 59,310,254 Q435* probably null Het
Prss32 G A 17: 23,856,122 V149M probably benign Het
Riox2 C A 16: 59,489,417 P378Q probably benign Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rsph4a T A 10: 33,905,525 S124T possibly damaging Het
Sdccag8 G A 1: 176,824,755 R24H possibly damaging Het
Slc22a1 C A 17: 12,675,500 G54* probably null Het
Slc24a5 C T 2: 125,085,647 probably benign Het
Tex101 C T 7: 24,668,325 V201M probably damaging Het
Tmprss7 T C 16: 45,681,593 Y223C probably damaging Het
Trpc4ap T C 2: 155,650,468 E382G probably damaging Het
Uggt1 A T 1: 36,184,484 Y575N probably damaging Het
Vmn2r70 T C 7: 85,565,168 I259V probably damaging Het
Xpo1 T A 11: 23,277,065 N131K probably damaging Het
Zfp579 C T 7: 4,994,433 V160M probably benign Het
Zfp697 A G 3: 98,425,450 D64G probably benign Het
Zfp974 T C 7: 27,912,253 T16A possibly damaging Het
Other mutations in Aph1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0497:Aph1b UTSW 9 66790618 nonsense probably null
R0621:Aph1b UTSW 9 66779334 missense possibly damaging 0.94
R1253:Aph1b UTSW 9 66790649 nonsense probably null
R1864:Aph1b UTSW 9 66794113 missense probably benign 0.05
R2221:Aph1b UTSW 9 66784639 missense probably damaging 1.00
R2223:Aph1b UTSW 9 66784639 missense probably damaging 1.00
R3788:Aph1b UTSW 9 66794066 splice site probably benign
R4874:Aph1b UTSW 9 66790596 critical splice donor site probably null
R7497:Aph1b UTSW 9 66794119 missense probably damaging 0.98
R7652:Aph1b UTSW 9 66784541 missense probably benign 0.09
Posted On2015-04-16