Incidental Mutation 'R2853:Aph1c'
ID 252403
Institutional Source Beutler Lab
Gene Symbol Aph1c
Ensembl Gene ENSMUSG00000053040
Gene Name aph1 homolog C, gamma secretase subunit
Synonyms 0610008A10Rik
MMRRC Submission 040446-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2853 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 66722276-66741953 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 66741764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057261] [ENSMUST00000169282]
AlphaFold Q9DCZ9
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 null
Transcript: ENSMUST00000169282
SMART Domains Protein: ENSMUSP00000130359
Gene: ENSMUSG00000053040

DomainStartEndE-ValueType
Pfam:Aph-1 2 239 3.2e-91 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A C 16: 8,418,832 (GRCm39) K142T probably damaging Het
Als2cl T C 9: 110,723,203 (GRCm39) S636P probably damaging Het
Angptl7 T C 4: 148,584,736 (GRCm39) E4G probably benign Het
Arhgap23 T C 11: 97,383,420 (GRCm39) probably null Het
Arhgef4 A C 1: 34,763,129 (GRCm39) D795A unknown Het
Atosb A G 4: 43,036,293 (GRCm39) L146P probably benign Het
Ccdc85a A G 11: 28,342,942 (GRCm39) probably benign Het
Chchd1 T C 14: 20,754,288 (GRCm39) S67P probably benign Het
Cubn C T 2: 13,435,645 (GRCm39) V1104I probably benign Het
Dennd5a A T 7: 109,532,878 (GRCm39) N297K probably damaging Het
Dnai4 T C 4: 102,907,355 (GRCm39) I644V possibly damaging Het
Egflam A T 15: 7,249,182 (GRCm39) W879R probably damaging Het
Far1 T C 7: 113,152,944 (GRCm39) Y351H possibly damaging Het
Gpr62 T C 9: 106,341,911 (GRCm39) E339G probably benign Het
Hspd1 A T 1: 55,120,256 (GRCm39) D315E probably damaging Het
Ids G T X: 69,396,776 (GRCm39) T329K probably damaging Het
Itga9 G A 9: 118,465,604 (GRCm39) E153K probably damaging Het
Krt82 T C 15: 101,456,870 (GRCm39) Y170C probably damaging Het
Megf10 T C 18: 57,427,003 (GRCm39) I1107T probably damaging Het
Mre11a A G 9: 14,737,843 (GRCm39) E599G probably benign Het
Mtm1 T G X: 70,345,389 (GRCm39) I437S probably damaging Het
Ncoa2 C T 1: 13,257,113 (GRCm39) V129I probably damaging Het
Ncs1 T C 2: 31,177,329 (GRCm39) F169L probably damaging Het
Ndst2 T C 14: 20,779,964 (GRCm39) E92G probably damaging Het
Parm1 T C 5: 91,742,124 (GRCm39) V164A probably benign Het
Pkhd1 T C 1: 20,128,526 (GRCm39) Q4059R probably benign Het
Scgb1b20 A C 7: 33,072,949 (GRCm39) K52N possibly damaging Het
Setbp1 T A 18: 78,967,211 (GRCm39) Q171L probably benign Het
Sik2 A T 9: 50,809,597 (GRCm39) L612Q probably damaging Het
Srprb G A 9: 103,076,038 (GRCm39) Q800* probably null Het
Ss18l1 A G 2: 179,699,914 (GRCm39) Y258C probably damaging Het
Togaram1 A G 12: 65,063,386 (GRCm39) K1567R probably benign Het
Ttc6 T C 12: 57,622,967 (GRCm39) F122S probably damaging Het
Vmn2r85 T A 10: 130,255,035 (GRCm39) M550L probably benign Het
Other mutations in Aph1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02615:Aph1c APN 9 66,726,688 (GRCm39) missense possibly damaging 0.94
IGL03168:Aph1c APN 9 66,740,619 (GRCm39) splice site probably benign
R0598:Aph1c UTSW 9 66,740,601 (GRCm39) missense probably damaging 1.00
R1519:Aph1c UTSW 9 66,740,547 (GRCm39) missense probably benign 0.07
R2084:Aph1c UTSW 9 66,726,579 (GRCm39) missense probably damaging 1.00
R4233:Aph1c UTSW 9 66,740,603 (GRCm39) missense probably damaging 1.00
R4472:Aph1c UTSW 9 66,735,051 (GRCm39) missense probably damaging 1.00
R4865:Aph1c UTSW 9 66,735,120 (GRCm39) missense probably damaging 1.00
R5435:Aph1c UTSW 9 66,741,783 (GRCm39) missense possibly damaging 0.95
R6710:Aph1c UTSW 9 66,741,802 (GRCm39) missense probably benign 0.00
R6748:Aph1c UTSW 9 66,740,577 (GRCm39) missense probably damaging 1.00
R8182:Aph1c UTSW 9 66,740,549 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- CCTACGGAAAGACTAAGGCTCC -3'
(R):5'- CCGCTAAGAAATCGTCCCAGTC -3'

Sequencing Primer
(F):5'- GACTAAGGCTCCATACACGAATG -3'
(R):5'- GAAATCGTCCCAGTCACCTCGG -3'
Posted On 2014-12-04