Incidental Mutation 'R9080:Gsap'
ID 689946
Institutional Source Beutler Lab
Gene Symbol Gsap
Ensembl Gene ENSMUSG00000039934
Gene Name gamma-secretase activating protein
Synonyms A530088I07Rik, Pion
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R9080 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 21391253-21520130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 21399410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 37 (T37I)
Ref Sequence ENSEMBL: ENSMUSP00000043679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036031] [ENSMUST00000195969] [ENSMUST00000198014] [ENSMUST00000198071] [ENSMUST00000198937]
AlphaFold Q3TCV3
Predicted Effect possibly damaging
Transcript: ENSMUST00000036031
AA Change: T37I

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: T37I

DomainStartEndE-ValueType
low complexity region 386 398 N/A INTRINSIC
Pfam:GSAP-16 646 753 6.8e-43 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000195969
AA Change: T37I

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000198014
AA Change: T37I

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000198071
AA Change: T37I

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000198937
AA Change: T37I

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
AA Change: T37I

DomainStartEndE-ValueType
low complexity region 355 367 N/A INTRINSIC
Pfam:GSAP-16 608 722 1.6e-42 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM 104311), a protease with numerous substrates. PION, or GSAP, selectively increases amyloid-beta production through a mechanism involving its interaction with both gamma-secretase and its substrate, the amyloid-beta precursor protein (APP; MIM 104760) C-terminal fragment (APP-CTF) (He et al., 2010 [PubMed 20811458]).[supplied by OMIM, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik T C 6: 52,155,973 (GRCm39) I13T unknown Het
Adad1 G T 3: 37,119,398 (GRCm39) V160L probably benign Het
Adamts6 T A 13: 104,449,427 (GRCm39) M279K probably damaging Het
Adgra2 T C 8: 27,604,529 (GRCm39) S535P probably benign Het
Akr1c13 C T 13: 4,241,172 (GRCm39) probably benign Het
Anapc1 A G 2: 128,464,426 (GRCm39) I1690T possibly damaging Het
Ccdc138 A G 10: 58,397,884 (GRCm39) M575V probably damaging Het
Cfap100 T C 6: 90,383,183 (GRCm39) N330S unknown Het
Col12a1 T C 9: 79,517,133 (GRCm39) D2849G probably benign Het
Cox11 G A 11: 90,535,246 (GRCm39) M232I probably damaging Het
Cpne7 C T 8: 123,856,951 (GRCm39) P402L probably damaging Het
Cspp1 G A 1: 10,183,919 (GRCm39) S848N probably benign Het
Cxcr5 A G 9: 44,424,563 (GRCm39) S365P probably damaging Het
Dclre1c A T 2: 3,458,589 (GRCm39) M389L probably benign Het
Dlc1 T C 8: 37,052,006 (GRCm39) D124G probably benign Het
Dtx3 A T 10: 127,027,137 (GRCm39) S346T possibly damaging Het
Exosc10 A G 4: 148,649,121 (GRCm39) D337G probably damaging Het
Fpr1 G A 17: 18,097,212 (GRCm39) A259V probably benign Het
Gm11232 A T 4: 71,676,070 (GRCm39) M25K probably benign Het
Gm4950 A G 18: 51,998,922 (GRCm39) V11A possibly damaging Het
Igfbp2 T A 1: 72,891,157 (GRCm39) C252S probably damaging Het
Ing2 T C 8: 48,121,808 (GRCm39) T247A possibly damaging Het
Ints1 C T 5: 139,739,300 (GRCm39) V2028M probably benign Het
Itfg1 A G 8: 86,466,874 (GRCm39) F400L possibly damaging Het
Itga6 A G 2: 71,673,633 (GRCm39) Y889C probably benign Het
Kcnh3 A G 15: 99,139,667 (GRCm39) E882G probably damaging Het
Limch1 T A 5: 67,174,992 (GRCm39) C515S probably benign Het
Lrrc74a G T 12: 86,795,908 (GRCm39) V294F possibly damaging Het
Megf8 A G 7: 25,041,131 (GRCm39) E1120G probably damaging Het
Nbea A T 3: 55,912,516 (GRCm39) Y1090* probably null Het
Nckap1 A G 2: 80,350,726 (GRCm39) Y794H probably damaging Het
Nfib T C 4: 82,623,754 (GRCm39) M25V Het
Ogfod2 A G 5: 124,253,007 (GRCm39) E339G probably damaging Het
Olah T A 2: 3,349,389 (GRCm39) E64V probably damaging Het
Or2a14 T A 6: 43,130,830 (GRCm39) V197D possibly damaging Het
Or9a4 T A 6: 40,548,563 (GRCm39) L81H probably damaging Het
Pdcd6ip T A 9: 113,520,624 (GRCm39) K120M probably damaging Het
Pex1 A G 5: 3,655,476 (GRCm39) I134V probably damaging Het
Plekhm2 T C 4: 141,359,039 (GRCm39) H576R probably damaging Het
Ptpn13 T A 5: 103,637,494 (GRCm39) H127Q probably damaging Het
Rmnd5b C T 11: 51,515,055 (GRCm39) probably null Het
Rsf1 A AAGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Sec16b C A 1: 157,393,300 (GRCm39) Q995K probably benign Het
Serpinb6d T A 13: 33,855,107 (GRCm39) S260R probably benign Het
Slc47a1 C T 11: 61,264,219 (GRCm39) G67S possibly damaging Het
Slco6d1 T C 1: 98,348,983 (GRCm39) V18A probably benign Het
Tfcp2 GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA 15: 100,395,968 (GRCm39) probably null Het
Tiam2 T G 17: 3,464,519 (GRCm39) C83G probably benign Het
Tlcd5 C T 9: 43,022,664 (GRCm39) R230Q probably benign Het
Tln2 C T 9: 67,253,843 (GRCm39) G743R probably damaging Het
Tnks CCCGCCGCCGCCGCCGCCGCCG CCCGCCGCCGCCGCCGCCG 8: 35,432,466 (GRCm39) probably benign Het
Ttn G A 2: 76,536,843 (GRCm39) T34994I probably benign Het
Ube2q2l T A 6: 136,377,720 (GRCm39) D370V probably damaging Het
Uggt2 T A 14: 119,295,017 (GRCm39) E536D probably benign Het
Usp54 T C 14: 20,612,308 (GRCm39) E836G probably damaging Het
Vmn1r41 C T 6: 89,724,138 (GRCm39) T63M unknown Het
Vmn2r72 A C 7: 85,387,464 (GRCm39) I700S probably damaging Het
Xrcc4 T C 13: 90,149,097 (GRCm39) N141S probably damaging Het
Zfp638 T C 6: 83,844,155 (GRCm39) V6A unknown Het
Other mutations in Gsap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:Gsap APN 5 21,459,022 (GRCm39) missense probably damaging 0.96
IGL00788:Gsap APN 5 21,426,303 (GRCm39) splice site probably benign
IGL01344:Gsap APN 5 21,447,881 (GRCm39) critical splice donor site probably null
IGL01347:Gsap APN 5 21,431,318 (GRCm39) missense probably benign 0.08
IGL01618:Gsap APN 5 21,431,246 (GRCm39) missense probably damaging 1.00
IGL01730:Gsap APN 5 21,495,152 (GRCm39) unclassified probably benign
IGL02061:Gsap APN 5 21,486,609 (GRCm39) splice site probably benign
IGL02161:Gsap APN 5 21,458,377 (GRCm39) missense probably damaging 1.00
IGL02259:Gsap APN 5 21,391,398 (GRCm39) missense probably benign 0.01
IGL02635:Gsap APN 5 21,494,814 (GRCm39) missense probably damaging 1.00
IGL02684:Gsap APN 5 21,447,801 (GRCm39) critical splice acceptor site probably null
IGL02822:Gsap APN 5 21,422,442 (GRCm39) missense probably damaging 1.00
IGL03231:Gsap APN 5 21,434,164 (GRCm39) missense probably damaging 0.99
PIT4305001:Gsap UTSW 5 21,391,407 (GRCm39) missense probably damaging 0.98
R0012:Gsap UTSW 5 21,431,227 (GRCm39) splice site probably benign
R0012:Gsap UTSW 5 21,431,227 (GRCm39) splice site probably benign
R0019:Gsap UTSW 5 21,475,620 (GRCm39) splice site probably benign
R0019:Gsap UTSW 5 21,475,620 (GRCm39) splice site probably benign
R0045:Gsap UTSW 5 21,431,830 (GRCm39) missense possibly damaging 0.77
R0054:Gsap UTSW 5 21,455,933 (GRCm39) splice site probably benign
R0054:Gsap UTSW 5 21,455,933 (GRCm39) splice site probably benign
R0409:Gsap UTSW 5 21,427,443 (GRCm39) splice site probably benign
R0507:Gsap UTSW 5 21,474,961 (GRCm39) missense possibly damaging 0.75
R0624:Gsap UTSW 5 21,458,949 (GRCm39) splice site probably null
R1037:Gsap UTSW 5 21,456,163 (GRCm39) splice site probably benign
R1076:Gsap UTSW 5 21,492,692 (GRCm39) missense possibly damaging 0.75
R1459:Gsap UTSW 5 21,412,236 (GRCm39) splice site probably benign
R1757:Gsap UTSW 5 21,486,035 (GRCm39) missense probably damaging 0.98
R1852:Gsap UTSW 5 21,495,543 (GRCm39) splice site probably null
R2034:Gsap UTSW 5 21,475,593 (GRCm39) missense probably damaging 1.00
R2069:Gsap UTSW 5 21,431,837 (GRCm39) splice site probably benign
R2125:Gsap UTSW 5 21,447,811 (GRCm39) missense probably damaging 1.00
R2172:Gsap UTSW 5 21,427,438 (GRCm39) critical splice donor site probably null
R2310:Gsap UTSW 5 21,401,088 (GRCm39) nonsense probably null
R2337:Gsap UTSW 5 21,493,628 (GRCm39) missense probably damaging 1.00
R3442:Gsap UTSW 5 21,483,125 (GRCm39) missense probably damaging 1.00
R4229:Gsap UTSW 5 21,451,975 (GRCm39) missense probably benign 0.00
R4271:Gsap UTSW 5 21,431,348 (GRCm39) critical splice donor site probably null
R4551:Gsap UTSW 5 21,495,569 (GRCm39) missense probably damaging 1.00
R4553:Gsap UTSW 5 21,495,569 (GRCm39) missense probably damaging 1.00
R4649:Gsap UTSW 5 21,431,309 (GRCm39) missense probably damaging 1.00
R4687:Gsap UTSW 5 21,451,969 (GRCm39) utr 3 prime probably benign
R4799:Gsap UTSW 5 21,455,941 (GRCm39) missense probably benign 0.05
R4857:Gsap UTSW 5 21,492,797 (GRCm39) splice site probably null
R4973:Gsap UTSW 5 21,459,037 (GRCm39) missense probably benign 0.04
R5015:Gsap UTSW 5 21,427,406 (GRCm39) missense probably damaging 1.00
R5031:Gsap UTSW 5 21,447,824 (GRCm39) missense possibly damaging 0.57
R5120:Gsap UTSW 5 21,474,934 (GRCm39) missense probably damaging 0.96
R5451:Gsap UTSW 5 21,422,445 (GRCm39) missense probably damaging 1.00
R5469:Gsap UTSW 5 21,495,542 (GRCm39) missense possibly damaging 0.92
R5519:Gsap UTSW 5 21,494,857 (GRCm39) missense probably damaging 1.00
R5588:Gsap UTSW 5 21,456,147 (GRCm39) missense probably damaging 1.00
R5650:Gsap UTSW 5 21,456,051 (GRCm39) missense probably damaging 0.99
R6064:Gsap UTSW 5 21,434,223 (GRCm39) missense possibly damaging 0.56
R6139:Gsap UTSW 5 21,486,538 (GRCm39) missense probably damaging 1.00
R6148:Gsap UTSW 5 21,475,575 (GRCm39) missense probably benign 0.39
R6148:Gsap UTSW 5 21,431,323 (GRCm39) missense probably damaging 1.00
R6226:Gsap UTSW 5 21,422,429 (GRCm39) missense probably damaging 1.00
R6859:Gsap UTSW 5 21,486,016 (GRCm39) missense probably damaging 0.99
R6977:Gsap UTSW 5 21,476,219 (GRCm39) missense probably damaging 1.00
R6995:Gsap UTSW 5 21,476,235 (GRCm39) missense possibly damaging 0.58
R7013:Gsap UTSW 5 21,483,108 (GRCm39) missense probably benign 0.39
R7159:Gsap UTSW 5 21,475,618 (GRCm39) splice site probably null
R7181:Gsap UTSW 5 21,458,427 (GRCm39) missense probably damaging 1.00
R7234:Gsap UTSW 5 21,391,433 (GRCm39) missense probably benign
R7332:Gsap UTSW 5 21,495,119 (GRCm39) missense probably benign 0.00
R7381:Gsap UTSW 5 21,431,785 (GRCm39) missense probably damaging 0.96
R8047:Gsap UTSW 5 21,462,866 (GRCm39) critical splice acceptor site probably null
R8062:Gsap UTSW 5 21,399,461 (GRCm39) missense probably damaging 1.00
R8126:Gsap UTSW 5 21,475,010 (GRCm39) missense probably benign 0.04
R8219:Gsap UTSW 5 21,456,113 (GRCm39) missense probably benign 0.00
R8355:Gsap UTSW 5 21,456,017 (GRCm39) nonsense probably null
R8472:Gsap UTSW 5 21,427,432 (GRCm39) nonsense probably null
R8715:Gsap UTSW 5 21,431,245 (GRCm39) missense possibly damaging 0.84
R8745:Gsap UTSW 5 21,474,949 (GRCm39) missense probably benign 0.05
R8798:Gsap UTSW 5 21,476,248 (GRCm39) critical splice donor site probably null
R9120:Gsap UTSW 5 21,458,434 (GRCm39) missense probably damaging 1.00
R9178:Gsap UTSW 5 21,422,471 (GRCm39) missense probably damaging 0.98
R9209:Gsap UTSW 5 21,433,064 (GRCm39) missense probably benign 0.10
R9404:Gsap UTSW 5 21,474,919 (GRCm39) missense probably damaging 1.00
Z1177:Gsap UTSW 5 21,456,030 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGCGTTTTGACCTCTAAATGTG -3'
(R):5'- GCACTCTTCAGCTAAACCAAGG -3'

Sequencing Primer
(F):5'- GATAAATTAAAGAAGTCTGCCTGCC -3'
(R):5'- GCCAGCCTGGTTTACAAGGTAAATTC -3'
Posted On 2021-11-19