Incidental Mutation 'IGL03168:Aph1c'
ID411743
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aph1c
Ensembl Gene ENSMUSG00000053040
Gene Nameaph1 homolog C, gamma secretase subunit
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03168
Quality Score
Status
Chromosome9
Chromosomal Location66814994-66834726 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 66833337 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057261] [ENSMUST00000169282]
Predicted Effect probably benign
Transcript: ENSMUST00000057261
SMART Domains Protein: ENSMUSP00000056476
Gene: ENSMUSG00000053040

DomainStartEndE-ValueType
Pfam:Aph-1 1 196 3.2e-69 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166507
Predicted Effect probably benign
Transcript: ENSMUST00000169282
SMART Domains Protein: ENSMUSP00000130359
Gene: ENSMUSG00000053040

DomainStartEndE-ValueType
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c6 T C 13: 4,436,281 V29A probably benign Het
Ankk1 C A 9: 49,415,768 A704S possibly damaging Het
Arglu1 T A 8: 8,683,960 I119L probably benign Het
Brwd1 A T 16: 96,017,677 S1318R possibly damaging Het
Chd3 A G 11: 69,348,915 probably benign Het
Colq T C 14: 31,524,420 Y445C probably damaging Het
Cyp2a4 A T 7: 26,313,550 probably benign Het
Cyp2j7 C T 4: 96,230,037 M106I probably benign Het
Erfe T G 1: 91,371,442 N302K probably damaging Het
Fam26d C T 10: 34,041,556 V300I probably benign Het
Fggy A T 4: 95,926,809 probably benign Het
Gata3 A G 2: 9,868,814 Y290H probably damaging Het
Grik4 T C 9: 42,671,243 T136A probably damaging Het
Hc G T 2: 35,024,198 N832K probably benign Het
Jhy A T 9: 40,917,552 S353T possibly damaging Het
Krt40 T A 11: 99,543,028 Q44L possibly damaging Het
Ksr2 T C 5: 117,748,781 F794S probably damaging Het
Olfr1094 A G 2: 86,829,263 I170M possibly damaging Het
Olfr1178 A G 2: 88,391,594 M116V probably damaging Het
Olfr138 A C 17: 38,274,791 S7R probably damaging Het
Olfr166 A T 16: 19,487,219 H127L probably benign Het
Olfr198 A G 16: 59,202,247 Y60H probably damaging Het
Olfr905 A G 9: 38,473,019 T91A probably benign Het
Pcdhb17 A G 18: 37,485,772 E205G probably benign Het
Pon3 A T 6: 5,256,177 I17K possibly damaging Het
Prkd2 A G 7: 16,850,263 D347G possibly damaging Het
Prkdc A G 16: 15,834,166 I3806V probably benign Het
Qpct C A 17: 79,052,324 A20E unknown Het
Rap1a A G 3: 105,750,271 S11P probably damaging Het
Rnf145 C A 11: 44,555,158 T273K probably damaging Het
Speg T C 1: 75,388,187 I298T probably damaging Het
Syt6 G A 3: 103,587,627 V303M probably damaging Het
Tpr A G 1: 150,408,757 I324M probably benign Het
Uggt2 A G 14: 119,077,668 F330L probably damaging Het
Unc45a A T 7: 80,333,133 L348Q probably damaging Het
Vmn1r17 T A 6: 57,360,598 I212F probably benign Het
Vmn2r68 A C 7: 85,221,764 N770K probably damaging Het
Zfhx3 T C 8: 108,946,500 V1394A probably damaging Het
Other mutations in Aph1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02615:Aph1c APN 9 66819406 missense possibly damaging 0.94
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
R8182:Aph1c UTSW 9 66833267 missense possibly damaging 0.91
Posted On2016-08-02