Incidental Mutation 'R5015:Gsap'
ID 385488
Institutional Source Beutler Lab
Gene Symbol Gsap
Ensembl Gene ENSMUSG00000039934
Gene Name gamma-secretase activating protein
Synonyms A530088I07Rik, Pion
MMRRC Submission 042606-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R5015 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 21391253-21520130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21427406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 178 (I178T)
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: I178T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: I178T

DomainStartEndE-ValueType
low complexity region 386 398 N/A INTRINSIC
Pfam:GSAP-16 646 753 6.8e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197522
Predicted Effect possibly damaging
Transcript: ENSMUST00000198014
AA Change: I178T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000198071
Predicted Effect possibly damaging
Transcript: ENSMUST00000198937
AA Change: I178T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
AA Change: I178T

DomainStartEndE-ValueType
low complexity region 355 367 N/A INTRINSIC
Pfam:GSAP-16 608 722 1.6e-42 PFAM
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 91.3%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T A 8: 41,207,671 (GRCm39) F312L probably benign Het
Adprm A G 11: 66,932,856 (GRCm39) F18L possibly damaging Het
Ampd1 T G 3: 103,006,981 (GRCm39) N735K possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp1a4 T C 1: 172,081,649 (GRCm39) M168V probably damaging Het
Bcl6 G A 16: 23,793,600 (GRCm39) H116Y probably damaging Het
Bmpr2 T A 1: 59,890,383 (GRCm39) N338K probably damaging Het
Bms1 A T 6: 118,381,224 (GRCm39) Y697* probably null Het
Ccdc33 A C 9: 58,025,918 (GRCm39) F37C probably damaging Het
Ccdc60 T A 5: 116,426,507 (GRCm39) Q30L probably benign Het
Cndp1 C A 18: 84,650,036 (GRCm39) R219L probably damaging Het
Cstdc4 T C 16: 36,006,837 (GRCm39) probably null Het
Daam2 C A 17: 49,783,550 (GRCm39) D627Y probably damaging Het
Dffb T C 4: 154,057,416 (GRCm39) D87G possibly damaging Het
Dnah2 T G 11: 69,388,708 (GRCm39) T892P possibly damaging Het
Dqx1 A G 6: 83,043,092 (GRCm39) T610A probably benign Het
Dspp A T 5: 104,324,926 (GRCm39) I430L possibly damaging Het
Dytn T A 1: 63,672,854 (GRCm39) K516N probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fmnl2 T A 2: 52,993,773 (GRCm39) N389K possibly damaging Het
Fn1 G A 1: 71,665,336 (GRCm39) T927I probably damaging Het
Foxn1 T C 11: 78,261,989 (GRCm39) K127E probably damaging Het
Fpr-rs6 A G 17: 20,402,608 (GRCm39) F251S probably damaging Het
Frrs1 A G 3: 116,672,088 (GRCm39) D62G probably damaging Het
Fut10 T A 8: 31,726,148 (GRCm39) V301D probably damaging Het
Gk5 A G 9: 96,059,470 (GRCm39) probably null Het
Glipr1l1 T A 10: 111,914,279 (GRCm39) N213K probably benign Het
Gm1110 A G 9: 26,793,162 (GRCm39) F538S probably benign Het
Gm7347 T A 5: 26,262,366 (GRCm39) T52S probably benign Het
H1f9 C A 11: 94,858,928 (GRCm39) N74K probably damaging Het
Hcn1 A T 13: 117,739,556 (GRCm39) Q106L unknown Het
Isg20l2 G T 3: 87,839,288 (GRCm39) L166F possibly damaging Het
Kcnq3 T A 15: 65,876,612 (GRCm39) E510D probably damaging Het
Kif26b G T 1: 178,755,895 (GRCm39) R2003L probably damaging Het
Kiss1r T C 10: 79,754,641 (GRCm39) V45A probably damaging Het
Krt14 G A 11: 100,098,032 (GRCm39) R84* probably null Het
Mbd5 T C 2: 49,148,208 (GRCm39) M806T possibly damaging Het
Mdga1 A T 17: 30,058,847 (GRCm39) I13N possibly damaging Het
Mfsd4b5 T C 10: 39,850,758 (GRCm39) K73E probably benign Het
Mterf2 C T 10: 84,955,596 (GRCm39) G343R probably benign Het
Mto1 T A 9: 78,368,903 (GRCm39) F522I probably benign Het
Myo18b T C 5: 112,937,923 (GRCm39) E1734G probably damaging Het
Myoz1 T C 14: 20,703,787 (GRCm39) T53A probably benign Het
Naxd T C 8: 11,563,032 (GRCm39) L324P probably damaging Het
Nos1 T A 5: 118,005,334 (GRCm39) V18D probably damaging Het
Nova1 T C 12: 46,863,738 (GRCm39) T71A unknown Het
Or10v5 T C 19: 11,805,482 (GRCm39) R303G probably benign Het
Or10z1 A G 1: 174,078,448 (GRCm39) L15S possibly damaging Het
Or1e29 C G 11: 73,668,007 (GRCm39) V49L probably benign Het
Or2j6 T C 7: 139,980,083 (GRCm39) D292G probably damaging Het
Or52b1 A G 7: 104,978,811 (GRCm39) V196A possibly damaging Het
Otof T A 5: 30,540,238 (GRCm39) Y981F probably damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Pex1 A G 5: 3,670,597 (GRCm39) K7E probably damaging Het
Pi4ka A G 16: 17,120,946 (GRCm39) S73P possibly damaging Het
Plxnb1 T A 9: 108,929,498 (GRCm39) I118N possibly damaging Het
Prcc T C 3: 87,779,560 (GRCm39) D158G probably damaging Het
Ptpn7 C A 1: 135,066,877 (GRCm39) R245S possibly damaging Het
Ptpre C T 7: 135,270,861 (GRCm39) H346Y probably benign Het
Pwp2 A G 10: 78,018,527 (GRCm39) C86R probably benign Het
Rfng T G 11: 120,673,876 (GRCm39) D178A probably damaging Het
Rhpn1 T C 15: 75,580,090 (GRCm39) I51T probably damaging Het
Rnasel G T 1: 153,629,843 (GRCm39) E120* probably null Het
Sall2 T G 14: 52,553,112 (GRCm39) S26R possibly damaging Het
Scn10a A G 9: 119,451,987 (GRCm39) V1312A possibly damaging Het
Sdk2 C A 11: 113,684,587 (GRCm39) R1958L probably damaging Het
Septin4 C T 11: 87,458,043 (GRCm39) S139F possibly damaging Het
Slc52a2 T A 15: 76,424,751 (GRCm39) C330S probably damaging Het
Smarca2 T A 19: 26,668,788 (GRCm39) I987N possibly damaging Het
Srrt A T 5: 137,294,271 (GRCm39) Y486N probably damaging Het
Stat5b A T 11: 100,695,831 (GRCm39) N50K possibly damaging Het
Strip2 T A 6: 29,931,265 (GRCm39) D405E probably benign Het
Tcstv6 T A 13: 120,298,474 (GRCm39) probably null Het
Tnc A T 4: 63,924,739 (GRCm39) D986E probably damaging Het
Tph2 T C 10: 114,915,621 (GRCm39) N473S probably benign Het
Tpp1 C T 7: 105,401,232 (GRCm39) probably benign Het
Trpm3 T C 19: 22,689,076 (GRCm39) Y2H probably damaging Het
Ttc21a A T 9: 119,795,195 (GRCm39) E1072V probably damaging Het
Zfat T C 15: 68,050,762 (GRCm39) D753G probably damaging Het
Zmym2 T A 14: 57,159,051 (GRCm39) S609T probably damaging 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
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
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'- AATGTGCATCTTGAGGCTGTC -3'
(R):5'- GGCTGCTAATTTCTCCATGC -3'

Sequencing Primer
(F):5'- ATCTTGAGGCTGTCCGCAG -3'
(R):5'- AATTTCTCCATGCATCTTTCTTTTGG -3'
Posted On 2016-05-10