Incidental Mutation 'R7332:Gsap'
ID 569287
Institutional Source Beutler Lab
Gene Symbol Gsap
Ensembl Gene ENSMUSG00000039934
Gene Name gamma-secretase activating protein
Synonyms A530088I07Rik, Pion
MMRRC Submission 045425-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R7332 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 21186255-21315132 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21290121 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 821 (M821K)
Ref Sequence ENSEMBL: ENSMUSP00000043679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036031] [ENSMUST00000115245] [ENSMUST00000195969] [ENSMUST00000198014] [ENSMUST00000198930] [ENSMUST00000198937]
AlphaFold Q3TCV3
Predicted Effect probably benign
Transcript: ENSMUST00000036031
AA Change: M821K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: M821K

DomainStartEndE-ValueType
low complexity region 386 398 N/A INTRINSIC
Pfam:GSAP-16 646 753 6.8e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115245
SMART Domains Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280

DomainStartEndE-ValueType
coiled coil region 1 33 N/A INTRINSIC
low complexity region 120 130 N/A INTRINSIC
coiled coil region 194 320 N/A INTRINSIC
low complexity region 333 342 N/A INTRINSIC
coiled coil region 438 477 N/A INTRINSIC
coiled coil region 549 595 N/A INTRINSIC
coiled coil region 617 663 N/A INTRINSIC
coiled coil region 690 720 N/A INTRINSIC
coiled coil region 770 793 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195969
Predicted Effect probably benign
Transcript: ENSMUST00000198014
Predicted Effect probably benign
Transcript: ENSMUST00000198930
AA Change: M60K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000198937
SMART Domains Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934

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: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (68/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 A G 19: 56,918,121 (GRCm38) S449P probably damaging Het
Atp6v0c A C 17: 24,169,224 (GRCm38) S21A probably benign Het
Cacna1e T C 1: 154,725,801 (GRCm38) Y40C possibly damaging Het
Cdadc1 A G 14: 59,575,764 (GRCm38) I398T possibly damaging Het
Cfap44 T A 16: 44,429,828 (GRCm38) D756E probably damaging Het
Clcnkb A T 4: 141,413,932 (GRCm38) L104Q probably null Het
Clk1 G A 1: 58,412,694 (GRCm38) H421Y probably benign Het
Cmpk2 A T 12: 26,478,062 (GRCm38) D426V probably damaging Het
Cmya5 A G 13: 93,092,553 (GRCm38) L2009S possibly damaging Het
Col5a2 C G 1: 45,380,165 (GRCm38) D1252H probably damaging Het
Coro1b A G 19: 4,149,357 (GRCm38) K5R probably benign Het
Csmd2 A G 4: 128,419,567 (GRCm38) T1346A Het
Csrp1 G T 1: 135,739,411 (GRCm38) W4L probably benign Het
Cyp3a25 A G 5: 145,993,007 (GRCm38) I184T probably damaging Het
Egfl7 C A 2: 26,590,713 (GRCm38) R128S probably benign Het
Fggy A T 4: 95,623,482 (GRCm38) N157I probably damaging Het
Gldc A T 19: 30,116,526 (GRCm38) L697Q probably damaging Het
Gm10436 T C 12: 88,176,417 (GRCm38) T339A possibly damaging Het
Gm4952 T A 19: 12,627,009 (GRCm38) Y262N probably damaging Het
Hps1 T C 19: 42,777,912 (GRCm38) probably null Het
Hsbp1l1 T C 18: 80,236,823 (GRCm38) probably benign Het
Igfbp7 G A 5: 77,351,956 (GRCm38) T220I probably damaging Het
Ints3 T C 3: 90,415,512 (GRCm38) Q137R probably damaging Het
Kcna6 A G 6: 126,739,329 (GRCm38) F199S possibly damaging Het
Kirrel T C 3: 87,088,398 (GRCm38) I410V probably benign Het
Llgl2 T C 11: 115,848,299 (GRCm38) V332A probably damaging Het
Lrrc27 A G 7: 139,242,745 (GRCm38) I517M probably damaging Het
Mas1 T C 17: 12,842,219 (GRCm38) T106A probably benign Het
Mast4 T A 13: 102,751,424 (GRCm38) Y1159F possibly damaging Het
Mmp2 A G 8: 92,850,152 (GRCm38) D601G probably damaging Het
Mycbp2 A G 14: 103,156,453 (GRCm38) S2891P probably damaging Het
Mycbp2 T A 14: 103,197,357 (GRCm38) I2217F probably damaging Het
Naip6 A G 13: 100,300,701 (GRCm38) V438A possibly damaging Het
Olfr1284 A G 2: 111,379,393 (GRCm38) H131R not run Het
Pdf T C 8: 107,048,541 (GRCm38) R20G probably benign Het
Pfdn2 T C 1: 171,356,594 (GRCm38) L47P probably damaging Het
Pik3c2g C A 6: 139,896,255 (GRCm38) N795K Het
Ppip5k1 A T 2: 121,311,969 (GRCm38) V1333D probably damaging Het
Prss44 A T 9: 110,815,462 (GRCm38) I213F probably damaging Het
Rbm47 A G 5: 66,026,214 (GRCm38) Y349H probably damaging Het
Rcl1 A T 19: 29,130,696 (GRCm38) T253S probably benign Het
Rdh1 A G 10: 127,759,885 (GRCm38) probably benign Het
Scn7a C T 2: 66,692,554 (GRCm38) W935* probably null Het
Sec24b T C 3: 130,041,393 (GRCm38) N52S probably benign Het
Serpinb5 A T 1: 106,872,361 (GRCm38) I94L probably benign Het
Setx T C 2: 29,146,626 (GRCm38) V1041A probably benign Het
Slco3a1 G A 7: 74,318,484 (GRCm38) A496V possibly damaging Het
Spag5 T A 11: 78,313,379 (GRCm38) L486* probably null Het
Spink5 T C 18: 43,982,250 (GRCm38) I183T probably damaging Het
Srd5a1 T C 13: 69,611,054 (GRCm38) Y65C probably benign Het
Ssh2 T A 11: 77,453,523 (GRCm38) I778N possibly damaging Het
Sstr1 C T 12: 58,213,386 (GRCm38) S265L probably damaging Het
Syne2 T A 12: 75,967,755 (GRCm38) probably null Het
Tctn1 A T 5: 122,261,484 (GRCm38) D92E probably damaging Het
Tiam2 A G 17: 3,453,369 (GRCm38) I940M probably damaging Het
Tmeff2 T C 1: 50,979,440 (GRCm38) W194R unknown Het
Tomm20 T C 8: 126,937,153 (GRCm38) T94A probably benign Het
Ucn2 A G 9: 108,986,464 (GRCm38) N98S probably benign Het
V1rd19 A T 7: 24,003,318 (GRCm38) I70L probably benign Het
Vmn1r18 A G 6: 57,390,518 (GRCm38) L17P probably benign Het
Vmn2r61 A G 7: 42,260,110 (GRCm38) T20A probably benign Het
Wdr59 G A 8: 111,494,354 (GRCm38) T182I Het
Zfp40 A T 17: 23,176,181 (GRCm38) C477* probably null Het
Zfp68 A G 5: 138,606,568 (GRCm38) S498P possibly damaging Het
Zfp729b T C 13: 67,609,636 (GRCm38) probably null Het
Zfp846 T G 9: 20,594,225 (GRCm38) N460K probably benign Het
Zim1 T C 7: 6,677,353 (GRCm38) Y437C probably damaging Het
Other mutations in Gsap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:Gsap APN 5 21,254,024 (GRCm38) missense probably damaging 0.96
IGL00788:Gsap APN 5 21,221,305 (GRCm38) splice site probably benign
IGL01344:Gsap APN 5 21,242,883 (GRCm38) critical splice donor site probably null
IGL01347:Gsap APN 5 21,226,320 (GRCm38) missense probably benign 0.08
IGL01618:Gsap APN 5 21,226,248 (GRCm38) missense probably damaging 1.00
IGL01730:Gsap APN 5 21,290,154 (GRCm38) unclassified probably benign
IGL02061:Gsap APN 5 21,281,611 (GRCm38) splice site probably benign
IGL02161:Gsap APN 5 21,253,379 (GRCm38) missense probably damaging 1.00
IGL02259:Gsap APN 5 21,186,400 (GRCm38) missense probably benign 0.01
IGL02635:Gsap APN 5 21,289,816 (GRCm38) missense probably damaging 1.00
IGL02684:Gsap APN 5 21,242,803 (GRCm38) critical splice acceptor site probably null
IGL02822:Gsap APN 5 21,217,444 (GRCm38) missense probably damaging 1.00
IGL03231:Gsap APN 5 21,229,166 (GRCm38) missense probably damaging 0.99
PIT4305001:Gsap UTSW 5 21,186,409 (GRCm38) missense probably damaging 0.98
R0012:Gsap UTSW 5 21,226,229 (GRCm38) splice site probably benign
R0012:Gsap UTSW 5 21,226,229 (GRCm38) splice site probably benign
R0019:Gsap UTSW 5 21,270,622 (GRCm38) splice site probably benign
R0019:Gsap UTSW 5 21,270,622 (GRCm38) splice site probably benign
R0045:Gsap UTSW 5 21,226,832 (GRCm38) missense possibly damaging 0.77
R0054:Gsap UTSW 5 21,250,935 (GRCm38) splice site probably benign
R0054:Gsap UTSW 5 21,250,935 (GRCm38) splice site probably benign
R0409:Gsap UTSW 5 21,222,445 (GRCm38) splice site probably benign
R0507:Gsap UTSW 5 21,269,963 (GRCm38) missense possibly damaging 0.75
R0624:Gsap UTSW 5 21,253,951 (GRCm38) splice site probably null
R1037:Gsap UTSW 5 21,251,165 (GRCm38) splice site probably benign
R1076:Gsap UTSW 5 21,287,694 (GRCm38) missense possibly damaging 0.75
R1459:Gsap UTSW 5 21,207,238 (GRCm38) splice site probably benign
R1757:Gsap UTSW 5 21,281,037 (GRCm38) missense probably damaging 0.98
R1852:Gsap UTSW 5 21,290,545 (GRCm38) splice site probably null
R2034:Gsap UTSW 5 21,270,595 (GRCm38) missense probably damaging 1.00
R2069:Gsap UTSW 5 21,226,839 (GRCm38) splice site probably benign
R2125:Gsap UTSW 5 21,242,813 (GRCm38) missense probably damaging 1.00
R2172:Gsap UTSW 5 21,222,440 (GRCm38) critical splice donor site probably null
R2310:Gsap UTSW 5 21,196,090 (GRCm38) nonsense probably null
R2337:Gsap UTSW 5 21,288,630 (GRCm38) missense probably damaging 1.00
R3442:Gsap UTSW 5 21,278,127 (GRCm38) missense probably damaging 1.00
R4229:Gsap UTSW 5 21,246,977 (GRCm38) missense probably benign 0.00
R4271:Gsap UTSW 5 21,226,350 (GRCm38) critical splice donor site probably null
R4551:Gsap UTSW 5 21,290,571 (GRCm38) missense probably damaging 1.00
R4553:Gsap UTSW 5 21,290,571 (GRCm38) missense probably damaging 1.00
R4649:Gsap UTSW 5 21,226,311 (GRCm38) missense probably damaging 1.00
R4687:Gsap UTSW 5 21,246,971 (GRCm38) utr 3 prime probably benign
R4799:Gsap UTSW 5 21,250,943 (GRCm38) missense probably benign 0.05
R4857:Gsap UTSW 5 21,287,799 (GRCm38) splice site probably null
R4973:Gsap UTSW 5 21,254,039 (GRCm38) missense probably benign 0.04
R5015:Gsap UTSW 5 21,222,408 (GRCm38) missense probably damaging 1.00
R5031:Gsap UTSW 5 21,242,826 (GRCm38) missense possibly damaging 0.57
R5120:Gsap UTSW 5 21,269,936 (GRCm38) missense probably damaging 0.96
R5451:Gsap UTSW 5 21,217,447 (GRCm38) missense probably damaging 1.00
R5469:Gsap UTSW 5 21,290,544 (GRCm38) missense possibly damaging 0.92
R5519:Gsap UTSW 5 21,289,859 (GRCm38) missense probably damaging 1.00
R5588:Gsap UTSW 5 21,251,149 (GRCm38) missense probably damaging 1.00
R5650:Gsap UTSW 5 21,251,053 (GRCm38) missense probably damaging 0.99
R6064:Gsap UTSW 5 21,229,225 (GRCm38) missense possibly damaging 0.56
R6139:Gsap UTSW 5 21,281,540 (GRCm38) missense probably damaging 1.00
R6148:Gsap UTSW 5 21,270,577 (GRCm38) missense probably benign 0.39
R6148:Gsap UTSW 5 21,226,325 (GRCm38) missense probably damaging 1.00
R6226:Gsap UTSW 5 21,217,431 (GRCm38) missense probably damaging 1.00
R6859:Gsap UTSW 5 21,281,018 (GRCm38) missense probably damaging 0.99
R6977:Gsap UTSW 5 21,271,221 (GRCm38) missense probably damaging 1.00
R6995:Gsap UTSW 5 21,271,237 (GRCm38) missense possibly damaging 0.58
R7013:Gsap UTSW 5 21,278,110 (GRCm38) missense probably benign 0.39
R7159:Gsap UTSW 5 21,270,620 (GRCm38) splice site probably null
R7181:Gsap UTSW 5 21,253,429 (GRCm38) missense probably damaging 1.00
R7234:Gsap UTSW 5 21,186,435 (GRCm38) missense probably benign
R7381:Gsap UTSW 5 21,226,787 (GRCm38) missense probably damaging 0.96
R8047:Gsap UTSW 5 21,257,868 (GRCm38) critical splice acceptor site probably null
R8062:Gsap UTSW 5 21,194,463 (GRCm38) missense probably damaging 1.00
R8126:Gsap UTSW 5 21,270,012 (GRCm38) missense probably benign 0.04
R8219:Gsap UTSW 5 21,251,115 (GRCm38) missense probably benign 0.00
R8355:Gsap UTSW 5 21,251,019 (GRCm38) nonsense probably null
R8472:Gsap UTSW 5 21,222,434 (GRCm38) nonsense probably null
R8715:Gsap UTSW 5 21,226,247 (GRCm38) missense possibly damaging 0.84
R8745:Gsap UTSW 5 21,269,951 (GRCm38) missense probably benign 0.05
R8798:Gsap UTSW 5 21,271,250 (GRCm38) critical splice donor site probably null
R9080:Gsap UTSW 5 21,194,412 (GRCm38) missense possibly damaging 0.52
R9120:Gsap UTSW 5 21,253,436 (GRCm38) missense probably damaging 1.00
R9178:Gsap UTSW 5 21,217,473 (GRCm38) missense probably damaging 0.98
R9209:Gsap UTSW 5 21,228,066 (GRCm38) missense probably benign 0.10
R9404:Gsap UTSW 5 21,269,921 (GRCm38) missense probably damaging 1.00
Z1177:Gsap UTSW 5 21,251,032 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGTCAATAAGCCCAGGTAGAC -3'
(R):5'- GGTTTAAACACCTCAAGGCCC -3'

Sequencing Primer
(F):5'- TCAATAAGCCCAGGTAGACAGTTATG -3'
(R):5'- AAAGGTAAGTCCCCCTTTGG -3'
Posted On 2019-09-13