Incidental Mutation 'R8062:Gsap'
ID 619771
Institutional Source Beutler Lab
Gene Symbol Gsap
Ensembl Gene ENSMUSG00000039934
Gene Name gamma-secretase activating protein
Synonyms A530088I07Rik, Pion
MMRRC Submission 067498-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R8062 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 21391253-21520130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21399461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 54 (I54N)
Ref Sequence ENSEMBL: ENSMUSP00000043679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036031] [ENSMUST00000195969] [ENSMUST00000198014] [ENSMUST00000198071] [ENSMUST00000198937]
AlphaFold Q3TCV3
Predicted Effect probably damaging
Transcript: ENSMUST00000036031
AA Change: I54N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: I54N

DomainStartEndE-ValueType
low complexity region 386 398 N/A INTRINSIC
Pfam:GSAP-16 646 753 6.8e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000195969
AA Change: I54N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000198014
AA Change: I54N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000198071
AA Change: I54N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000198937
AA Change: I54N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
AA Change: I54N

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: 99.3%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abce1 A T 8: 80,427,773 (GRCm39) Y172N possibly damaging Het
Abhd2 T A 7: 78,975,338 (GRCm39) M176K possibly damaging Het
Adamts14 A G 10: 61,036,140 (GRCm39) probably null Het
Atg2a T C 19: 6,302,609 (GRCm39) probably null Het
Bach2 G A 4: 32,562,937 (GRCm39) G468E probably damaging Het
Bap1 T A 14: 30,979,465 (GRCm39) N489K probably benign Het
Btaf1 G A 19: 36,969,865 (GRCm39) V1180I probably benign Het
Calm5 A G 13: 3,904,405 (GRCm39) H33R probably benign Het
Cby2 A T 14: 75,830,046 (GRCm39) I49N probably benign Het
Cnr1 T A 4: 33,944,707 (GRCm39) V365E possibly damaging Het
Crym A C 7: 119,800,391 (GRCm39) V77G probably damaging Het
Cyp2j7 T A 4: 96,103,587 (GRCm39) E316V probably null Het
Dab2 G A 15: 6,456,822 (GRCm39) G233D probably damaging Het
Ddx19b A T 8: 111,747,611 (GRCm39) S108T probably benign Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Duxf1 G A 10: 58,059,632 (GRCm39) A374V unknown Het
Duxf3 A C 10: 58,066,750 (GRCm39) M93R probably benign Het
Duxf3 G A 10: 58,066,889 (GRCm39) L537F probably damaging Het
Eif2s2 A G 2: 154,719,724 (GRCm39) F182L possibly damaging Het
Erlin1 T A 19: 44,044,598 (GRCm39) K156I probably benign Het
Gapvd1 A G 2: 34,568,126 (GRCm39) S1413P probably benign Het
Gm1110 G A 9: 26,793,117 (GRCm39) A553V probably damaging Het
Gm3250 C A 10: 77,618,234 (GRCm39) C48F unknown Het
Gm3604 T C 13: 62,518,155 (GRCm39) S68G probably damaging Het
Golga5 T A 12: 102,450,739 (GRCm39) M464K probably benign Het
Gpr142 G A 11: 114,697,357 (GRCm39) R301Q probably benign Het
Gria4 C T 9: 4,480,273 (GRCm39) D392N possibly damaging Het
Grik2 T A 10: 49,116,863 (GRCm39) T633S probably damaging Het
Hdlbp A G 1: 93,366,064 (GRCm39) Y40H probably benign Het
Hyal5 C A 6: 24,876,196 (GRCm39) T23K possibly damaging Het
Iqank1 G A 15: 75,918,603 (GRCm39) R508H probably benign Het
Itga6 T A 2: 71,672,087 (GRCm39) F834L probably benign Het
Klf1 T A 8: 85,629,928 (GRCm39) L251Q probably benign Het
Kndc1 A G 7: 139,498,760 (GRCm39) D558G probably benign Het
Ktn1 T A 14: 47,962,429 (GRCm39) probably null Het
Lcmt2 A G 2: 120,970,753 (GRCm39) V110A possibly damaging Het
Lgr4 C T 2: 109,831,282 (GRCm39) R304C probably damaging Het
Lnpk T A 2: 74,381,407 (GRCm39) I119L possibly damaging Het
Med13 A G 11: 86,210,264 (GRCm39) V626A probably benign Het
Mroh9 A T 1: 162,866,544 (GRCm39) L700M probably damaging Het
Muc4 T A 16: 32,577,123 (GRCm39) W138R Het
Myh2 G T 11: 67,084,209 (GRCm39) E1611* probably null Het
Myo9b T G 8: 71,774,457 (GRCm39) S323A probably damaging Het
Or2n1c A T 17: 38,520,065 (GRCm39) I310F probably benign Het
Or4c52 T A 2: 89,846,080 (GRCm39) F269I possibly damaging Het
Or5t7 A C 2: 86,507,410 (GRCm39) V89G probably benign Het
Or8b101 G T 9: 38,020,213 (GRCm39) C72F probably damaging Het
P2ry13 A T 3: 59,117,703 (GRCm39) M25K probably benign Het
Pan3 T A 5: 147,463,960 (GRCm39) F571Y probably benign Het
Pdcd11 A G 19: 47,119,152 (GRCm39) D1831G possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pex1 T G 5: 3,655,656 (GRCm39) M161R probably benign Het
Piezo2 T A 18: 63,163,537 (GRCm39) D2127V possibly damaging Het
Plod3 A T 5: 137,019,123 (GRCm39) H336L possibly damaging Het
Pp2d1 A T 17: 53,822,798 (GRCm39) N89K probably benign Het
Ppp4r3a A G 12: 101,008,230 (GRCm39) S736P probably damaging Het
Prp2 C A 6: 132,577,651 (GRCm39) Q313K unknown Het
Psma5 T G 3: 108,173,795 (GRCm39) D90E probably benign Het
Reln G A 5: 22,176,990 (GRCm39) T1892I probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rsf1 T G 7: 97,326,594 (GRCm39) D1039E Het
Rtel1 A G 2: 180,982,360 (GRCm39) D370G probably benign Het
Scyl2 T A 10: 89,490,022 (GRCm39) N447Y probably damaging Het
Sis A T 3: 72,828,321 (GRCm39) Y1222* probably null Het
Slc37a3 A T 6: 39,341,530 (GRCm39) H35Q probably damaging Het
Sltm A T 9: 70,480,779 (GRCm39) K210N unknown Het
Spata3 T C 1: 85,952,148 (GRCm39) I134T unknown Het
Speer4d A T 5: 15,825,437 (GRCm39) N54I possibly damaging Het
Syne1 A G 10: 5,135,394 (GRCm39) probably null Het
Tars1 A T 15: 11,388,400 (GRCm39) F465Y possibly damaging Het
Tlr4 T G 4: 66,758,087 (GRCm39) N293K probably benign Het
Tmprss13 C A 9: 45,239,986 (GRCm39) T98K unknown Het
Tnfsf8 G A 4: 63,779,432 (GRCm39) probably benign Het
Trim30b T A 7: 104,015,393 (GRCm39) probably benign Het
Trpm1 A G 7: 63,851,689 (GRCm39) K136E probably benign Het
Ttc6 A G 12: 57,783,764 (GRCm39) Y1741C possibly damaging Het
Usp38 T C 8: 81,711,218 (GRCm39) D939G probably damaging Het
Vmn1r196 T A 13: 22,477,440 (GRCm39) N26K probably damaging Het
Vmn2r50 C A 7: 9,774,240 (GRCm39) probably null Het
Wdr3 T A 3: 100,049,810 (GRCm39) M773L probably benign Het
Zfp993 T G 4: 146,739,415 (GRCm39) probably null 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
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
R9080:Gsap UTSW 5 21,399,410 (GRCm39) missense possibly damaging 0.52
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'- GCGTCAACATGGTGTTTTGC -3'
(R):5'- GGACTATCAGCACTCTTCAGC -3'

Sequencing Primer
(F):5'- CAACATGGTGTTTTGCACTTGATTTC -3'
(R):5'- GTTAATCTTAACACTGGGGAAGTAG -3'
Posted On 2020-01-23