Incidental Mutation 'IGL02161:Gsap'
ID 282471
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02161
Quality Score
Status
Chromosome 5
Chromosomal Location 21391253-21520130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21458377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 423 (W423R)
Ref Sequence ENSEMBL: ENSMUSP00000142986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036031] [ENSMUST00000195969] [ENSMUST00000198014] [ENSMUST00000198071] [ENSMUST00000198937]
AlphaFold Q3TCV3
Predicted Effect probably damaging
Transcript: ENSMUST00000036031
AA Change: W454R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: W454R

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: ENSMUST00000196035
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197522
Predicted Effect probably benign
Transcript: ENSMUST00000198014
Predicted Effect probably benign
Transcript: ENSMUST00000198071
Predicted Effect probably damaging
Transcript: ENSMUST00000198937
AA Change: W423R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
AA Change: W423R

DomainStartEndE-ValueType
low complexity region 355 367 N/A INTRINSIC
Pfam:GSAP-16 608 722 1.6e-42 PFAM
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,838,490 (GRCm39) V1024D probably benign Het
Alox5 T A 6: 116,400,154 (GRCm39) M262L probably benign Het
Arid5b T C 10: 67,932,498 (GRCm39) T1135A probably benign Het
Ascc3 T A 10: 50,726,623 (GRCm39) Y2177* probably null Het
Birc6 A C 17: 74,855,832 (GRCm39) H214P probably damaging Het
Catsperb T A 12: 101,375,674 (GRCm39) probably benign Het
Ccr1l1 G A 9: 123,778,000 (GRCm39) T149I possibly damaging Het
Cfap57 T G 4: 118,436,569 (GRCm39) R942S possibly damaging Het
Crocc G A 4: 140,761,302 (GRCm39) A941V probably benign Het
Csde1 A G 3: 102,957,654 (GRCm39) Q471R probably damaging Het
Csmd1 C T 8: 16,408,426 (GRCm39) V380I probably damaging Het
Dhx8 A T 11: 101,648,432 (GRCm39) Q857L probably damaging Het
Eftud2 A G 11: 102,745,702 (GRCm39) probably benign Het
Fat3 C A 9: 15,908,346 (GRCm39) R2552I probably benign Het
Fat3 T A 9: 15,908,347 (GRCm39) R2552* probably null Het
Fbln7 A T 2: 128,731,711 (GRCm39) K166I probably benign Het
Glrx2 C T 1: 143,615,421 (GRCm39) S8L possibly damaging Het
Grin2d T G 7: 45,503,846 (GRCm39) I630L possibly damaging Het
Kifc2 A G 15: 76,550,245 (GRCm39) E468G probably damaging Het
Kpnb1 A G 11: 97,059,762 (GRCm39) S566P probably benign Het
Lemd2 A G 17: 27,409,625 (GRCm39) S509P probably damaging Het
Lepr T C 4: 101,602,875 (GRCm39) F221S probably damaging Het
Nynrin T C 14: 56,101,441 (GRCm39) F370S probably damaging Het
Or51a10 C A 7: 103,698,797 (GRCm39) V255L possibly damaging Het
Pcdhb15 T A 18: 37,608,555 (GRCm39) S596T possibly damaging Het
Prkcq G T 2: 11,281,887 (GRCm39) S472I probably benign Het
Rabgef1 T C 5: 130,235,940 (GRCm39) probably benign Het
Rnd3 C T 2: 51,024,088 (GRCm39) V164M probably benign Het
Rtn4rl1 G A 11: 75,156,666 (GRCm39) R366Q probably damaging Het
Sesn2 A T 4: 132,224,229 (GRCm39) I393N probably damaging Het
St8sia2 T C 7: 73,626,430 (GRCm39) N46S probably benign Het
Svopl A G 6: 38,013,750 (GRCm39) probably benign Het
Tbr1 C T 2: 61,635,583 (GRCm39) Q178* probably null Het
Vax2 T C 6: 83,714,885 (GRCm39) S267P probably damaging Het
Vmn1r47 T A 6: 89,999,298 (GRCm39) Y143* probably null Het
Vmn2r28 A G 7: 5,491,123 (GRCm39) S375P possibly damaging Het
Vmn2r44 A T 7: 8,380,814 (GRCm39) Y360N possibly damaging Het
Zc3h6 G A 2: 128,835,146 (GRCm39) S94N possibly 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
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
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
Posted On 2015-04-16