Incidental Mutation 'R8420:Aph1b'
ID 653148
Institutional Source Beutler Lab
Gene Symbol Aph1b
Ensembl Gene ENSMUSG00000032375
Gene Name aph1 homolog B, gamma secretase subunit
Synonyms 2310057K14Rik
MMRRC Submission 067773-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8420 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 66682484-66702772 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66701503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 45 (S45P)
Ref Sequence ENSEMBL: ENSMUSP00000034934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034934] [ENSMUST00000098612] [ENSMUST00000113730] [ENSMUST00000168309]
AlphaFold Q8C7N7
Predicted Effect probably damaging
Transcript: ENSMUST00000034934
AA Change: S45P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034934
Gene: ENSMUSG00000032375
AA Change: S45P

DomainStartEndE-ValueType
Pfam:Aph-1 2 238 4.1e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098612
SMART Domains Protein: ENSMUSP00000096212
Gene: ENSMUSG00000074232

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113730
AA Change: S45P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109359
Gene: ENSMUSG00000032375
AA Change: S45P

DomainStartEndE-ValueType
Pfam:Aph-1 2 119 2.7e-48 PFAM
Pfam:Aph-1 110 204 1.4e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168309
AA Change: S45P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125816
Gene: ENSMUSG00000032375
AA Change: S45P

DomainStartEndE-ValueType
Pfam:Aph-1 2 172 7.8e-67 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,937,746 (GRCm39) S11P unknown Het
Adrb2 T C 18: 62,312,004 (GRCm39) T274A probably damaging Het
Atp9b A T 18: 80,887,806 (GRCm39) D321E Het
C1qbp A G 11: 70,869,543 (GRCm39) V180A possibly damaging Het
C4b G T 17: 34,953,513 (GRCm39) A990D probably damaging Het
Ccdc80 T A 16: 44,915,612 (GRCm39) S123T possibly damaging Het
Cdh18 A C 15: 23,474,138 (GRCm39) E669D possibly damaging Het
Ceacam3 T A 7: 16,895,608 (GRCm39) V526D Het
Cenpf C T 1: 189,404,782 (GRCm39) C349Y probably damaging Het
Dmrt2 T C 19: 25,655,379 (GRCm39) V326A probably damaging Het
Dock9 T C 14: 121,783,454 (GRCm39) Q2023R probably damaging Het
Exd2 A G 12: 80,522,771 (GRCm39) R77G probably benign Het
Exph5 A T 9: 53,287,148 (GRCm39) K1410* probably null Het
Eya2 A G 2: 165,608,988 (GRCm39) T443A probably damaging Het
Fam135a G A 1: 24,067,569 (GRCm39) T1100M probably benign Het
Foxp2 G T 6: 15,403,866 (GRCm39) R381L unknown Het
Grm7 T G 6: 111,057,315 (GRCm39) V305G probably benign Het
Gzma G A 13: 113,237,464 (GRCm39) R8W probably benign Het
H6pd T C 4: 150,066,133 (GRCm39) E759G probably benign Het
Ift27 A G 15: 78,048,391 (GRCm39) V154A probably benign Het
Kif1a A T 1: 92,950,141 (GRCm39) S1429T probably benign Het
Lrrn1 T A 6: 107,546,294 (GRCm39) D697E probably benign Het
Mcrs1 A T 15: 99,141,575 (GRCm39) I387N probably damaging Het
Muc16 T C 9: 18,448,807 (GRCm39) T7675A probably damaging Het
Naf1 GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC 8: 67,313,200 (GRCm39) probably benign Het
Nid1 C A 13: 13,612,416 (GRCm39) L44I possibly damaging Het
Or2f2 A T 6: 42,767,644 (GRCm39) T224S possibly damaging Het
Or4m1 T C 14: 50,558,233 (GRCm39) T20A probably benign Het
Or5h27 A G 16: 59,006,117 (GRCm39) I243T unknown Het
Or8k1 T A 2: 86,047,457 (GRCm39) E199V probably damaging Het
Pde11a C T 2: 75,889,354 (GRCm39) D707N probably damaging Het
Pigf A T 17: 87,327,910 (GRCm39) L119* probably null Het
Pkd1l1 A T 11: 8,820,277 (GRCm39) C1679* probably null Het
Prnp A G 2: 131,778,669 (GRCm39) N107S probably benign Het
Ptgfr C T 3: 151,541,053 (GRCm39) V152M possibly damaging Het
Rap2b A G 3: 61,271,805 (GRCm39) probably benign Het
Rtn4 A G 11: 29,657,300 (GRCm39) T485A probably damaging Het
Sec23b A G 2: 144,401,234 (GRCm39) T32A probably benign Het
Skint5 A T 4: 113,437,679 (GRCm39) probably null Het
Slc13a5 A G 11: 72,148,210 (GRCm39) L275P probably damaging Het
Slc20a1 C T 2: 129,041,784 (GRCm39) A49V probably damaging Het
Slc35g2 A G 9: 100,435,224 (GRCm39) I149T probably benign Het
Syk T A 13: 52,778,763 (GRCm39) I283K probably benign Het
Taf7l2 T C 10: 115,948,440 (GRCm39) Y362C probably benign Het
Tnfsf13b G A 8: 10,056,795 (GRCm39) probably benign Het
Ubr1 A G 2: 120,701,476 (GRCm39) V1592A probably benign Het
Vopp1 T C 6: 57,739,379 (GRCm39) *123W probably null Het
Xpo4 T A 14: 57,841,913 (GRCm39) Q467H probably damaging Het
Zdhhc22 A C 12: 87,035,143 (GRCm39) V103G possibly damaging Het
Zfp868 A G 8: 70,064,160 (GRCm39) S392P probably damaging Het
Other mutations in Aph1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02313:Aph1b APN 9 66,697,955 (GRCm39) splice site probably benign
R0497:Aph1b UTSW 9 66,697,900 (GRCm39) nonsense probably null
R0621:Aph1b UTSW 9 66,686,616 (GRCm39) missense possibly damaging 0.94
R1253:Aph1b UTSW 9 66,697,931 (GRCm39) nonsense probably null
R1864:Aph1b UTSW 9 66,701,395 (GRCm39) missense probably benign 0.05
R2221:Aph1b UTSW 9 66,691,921 (GRCm39) missense probably damaging 1.00
R2223:Aph1b UTSW 9 66,691,921 (GRCm39) missense probably damaging 1.00
R3788:Aph1b UTSW 9 66,701,348 (GRCm39) splice site probably benign
R4874:Aph1b UTSW 9 66,697,878 (GRCm39) critical splice donor site probably null
R7497:Aph1b UTSW 9 66,701,401 (GRCm39) missense probably damaging 0.98
R7652:Aph1b UTSW 9 66,691,823 (GRCm39) missense probably benign 0.09
R8217:Aph1b UTSW 9 66,686,554 (GRCm39) missense possibly damaging 0.75
R8480:Aph1b UTSW 9 66,695,709 (GRCm39) intron probably benign
R9129:Aph1b UTSW 9 66,686,595 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ACAAAGTGTCTGGCATTGGG -3'
(R):5'- ACATCTGACGTTCCTCTTGG -3'

Sequencing Primer
(F):5'- TCAGGCTAAAATTGTAGCAATCAC -3'
(R):5'- GTAGCTCAAGCAGGTTTG -3'
Posted On 2020-10-20