Incidental Mutation 'R6995:Gsap'
| ID |
544117 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsap
|
| Ensembl Gene |
ENSMUSG00000039934 |
| Gene Name |
gamma-secretase activating protein |
| Synonyms |
A530088I07Rik, Pion |
| MMRRC Submission |
045101-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R6995 (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 A
at 21476235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 589
(T589K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036031]
[ENSMUST00000195969]
[ENSMUST00000198014]
[ENSMUST00000198937]
|
| AlphaFold |
Q3TCV3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036031
AA Change: T589K
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: T589K
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000198014
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198937
AA Change: T558K
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
AA Change: T558K
| Domain | Start | End | E-Value | Type |
|---|
|
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: 99.2%
|
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
G |
7: 40,644,149 (GRCm39) |
Y606C |
probably benign |
Het |
| Acad9 |
A |
G |
3: 36,139,630 (GRCm39) |
Y410C |
probably damaging |
Het |
| Acot6 |
C |
T |
12: 84,156,149 (GRCm39) |
P366S |
probably damaging |
Het |
| Adrm1b |
T |
C |
3: 92,336,315 (GRCm39) |
|
probably benign |
Het |
| Anks1 |
G |
T |
17: 28,273,273 (GRCm39) |
G964V |
probably damaging |
Het |
| Apol7a |
A |
T |
15: 77,274,176 (GRCm39) |
|
probably benign |
Het |
| Arid3c |
G |
A |
4: 41,725,087 (GRCm39) |
A320V |
probably damaging |
Het |
| Bnip3l |
A |
T |
14: 67,237,101 (GRCm39) |
N50K |
probably benign |
Het |
| C1qtnf4 |
C |
A |
2: 90,720,297 (GRCm39) |
A190D |
probably benign |
Het |
| Calhm5 |
A |
T |
10: 33,972,189 (GRCm39) |
M82K |
probably benign |
Het |
| Cdcp3 |
G |
T |
7: 130,824,400 (GRCm39) |
W165L |
probably damaging |
Het |
| Cdh1 |
G |
T |
8: 107,387,545 (GRCm39) |
V482L |
probably benign |
Het |
| Cdrt4 |
A |
C |
11: 62,883,486 (GRCm39) |
I63L |
probably benign |
Het |
| Cic |
A |
T |
7: 24,970,736 (GRCm39) |
T156S |
possibly damaging |
Het |
| Ckm |
A |
G |
7: 19,154,156 (GRCm39) |
N301S |
probably benign |
Het |
| Colgalt1 |
C |
T |
8: 72,076,165 (GRCm39) |
R539C |
probably damaging |
Het |
| Cop1 |
A |
G |
1: 159,134,154 (GRCm39) |
D132G |
probably damaging |
Het |
| Cpd |
G |
T |
11: 76,675,881 (GRCm39) |
N1257K |
probably benign |
Het |
| Cyp2c67 |
T |
C |
19: 39,604,123 (GRCm39) |
H411R |
probably damaging |
Het |
| Cyp2r1 |
A |
T |
7: 114,152,316 (GRCm39) |
F5I |
probably damaging |
Het |
| Dclk3 |
T |
A |
9: 111,296,768 (GRCm39) |
L104Q |
possibly damaging |
Het |
| Dnah7c |
A |
T |
1: 46,494,973 (GRCm39) |
Q67L |
probably benign |
Het |
| Dnm1l |
C |
A |
16: 16,147,671 (GRCm39) |
E365* |
probably null |
Het |
| Dst |
A |
T |
1: 34,205,315 (GRCm39) |
I502F |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,212,535 (GRCm39) |
V547A |
possibly damaging |
Het |
| Foxa1 |
C |
T |
12: 57,589,264 (GRCm39) |
A319T |
probably benign |
Het |
| Frem1 |
G |
T |
4: 82,904,838 (GRCm39) |
H859N |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,339,208 (GRCm39) |
D500E |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,822,375 (GRCm39) |
D394G |
probably damaging |
Het |
| Gsg1l |
A |
G |
7: 125,522,658 (GRCm39) |
V190A |
probably damaging |
Het |
| Kcnmb1 |
A |
T |
11: 33,920,131 (GRCm39) |
T115S |
probably benign |
Het |
| Kirrel2 |
A |
C |
7: 30,154,604 (GRCm39) |
F169C |
probably damaging |
Het |
| L3mbtl1 |
C |
T |
2: 162,803,368 (GRCm39) |
T397M |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,060,820 (GRCm39) |
C716Y |
|
Het |
| Lamc2 |
G |
A |
1: 153,012,508 (GRCm39) |
T722M |
probably benign |
Het |
| Lrig1 |
T |
C |
6: 94,588,610 (GRCm39) |
D513G |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,942,090 (GRCm39) |
D716G |
probably damaging |
Het |
| Matn4 |
G |
A |
2: 164,231,584 (GRCm39) |
R582* |
probably null |
Het |
| Mdn1 |
A |
T |
4: 32,733,374 (GRCm39) |
R3133W |
probably benign |
Het |
| Mmp7 |
A |
G |
9: 7,695,489 (GRCm39) |
D122G |
probably damaging |
Het |
| Naaladl1 |
A |
G |
19: 6,165,578 (GRCm39) |
D744G |
possibly damaging |
Het |
| Nampt |
T |
G |
12: 32,898,742 (GRCm39) |
Y453D |
probably benign |
Het |
| Nlrp12 |
A |
G |
7: 3,288,481 (GRCm39) |
V677A |
probably benign |
Het |
| Ntng2 |
T |
C |
2: 29,087,080 (GRCm39) |
N414S |
probably damaging |
Het |
| Or1e16 |
A |
G |
11: 73,286,410 (GRCm39) |
V146A |
probably benign |
Het |
| Or4g17 |
A |
G |
2: 111,209,708 (GRCm39) |
D121G |
probably damaging |
Het |
| Or5p52 |
A |
G |
7: 107,502,829 (GRCm39) |
R302G |
probably benign |
Het |
| Or9m1b |
A |
C |
2: 87,836,529 (GRCm39) |
F189V |
probably benign |
Het |
| Parp4 |
A |
C |
14: 56,851,196 (GRCm39) |
Q733P |
probably damaging |
Het |
| Pdcl3 |
G |
A |
1: 39,034,417 (GRCm39) |
V56I |
probably benign |
Het |
| Pepd |
A |
G |
7: 34,721,144 (GRCm39) |
Y256C |
probably damaging |
Het |
| Plg |
G |
T |
17: 12,637,938 (GRCm39) |
R788L |
probably benign |
Het |
| Plod1 |
A |
T |
4: 148,000,675 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
A |
G |
1: 138,016,482 (GRCm39) |
V513A |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,045,370 (GRCm39) |
I373T |
possibly damaging |
Het |
| Qrfprl |
A |
T |
6: 65,418,285 (GRCm39) |
K151I |
probably damaging |
Het |
| Rbbp8 |
G |
A |
18: 11,851,965 (GRCm39) |
G262E |
probably damaging |
Het |
| Rfc2 |
T |
A |
5: 134,623,104 (GRCm39) |
Y240* |
probably null |
Het |
| Rps15 |
A |
G |
10: 80,129,598 (GRCm39) |
E71G |
possibly damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Ryr1 |
A |
C |
7: 28,793,607 (GRCm39) |
M1287R |
probably damaging |
Het |
| Scart2 |
G |
A |
7: 139,841,514 (GRCm39) |
D273N |
probably benign |
Het |
| Serpina9 |
A |
G |
12: 103,967,495 (GRCm39) |
L300P |
probably damaging |
Het |
| Sh3rf2 |
G |
A |
18: 42,234,606 (GRCm39) |
A130T |
probably damaging |
Het |
| Slc12a8 |
G |
A |
16: 33,355,263 (GRCm39) |
W26* |
probably null |
Het |
| Snx18 |
A |
T |
13: 113,731,265 (GRCm39) |
H576Q |
probably damaging |
Het |
| Tagln3 |
G |
A |
16: 45,543,321 (GRCm39) |
T107I |
probably benign |
Het |
| Thap1 |
C |
A |
8: 26,652,679 (GRCm39) |
T139K |
probably damaging |
Het |
| Tle4 |
T |
A |
19: 14,541,817 (GRCm39) |
|
probably null |
Het |
| Tmem87a |
A |
T |
2: 120,193,409 (GRCm39) |
M502K |
possibly damaging |
Het |
| Tpcn2 |
A |
T |
7: 144,810,522 (GRCm39) |
V605E |
probably benign |
Het |
| Trgj1 |
C |
A |
13: 19,394,529 (GRCm39) |
|
probably benign |
Het |
| Tsc2 |
A |
T |
17: 24,847,028 (GRCm39) |
V179E |
probably damaging |
Het |
| Ubap2l |
T |
C |
3: 89,916,548 (GRCm39) |
T909A |
probably damaging |
Het |
| Ubl4b |
T |
G |
3: 107,462,140 (GRCm39) |
Q40P |
probably damaging |
Het |
| Vmn1r229 |
A |
G |
17: 21,035,277 (GRCm39) |
D174G |
probably damaging |
Het |
| Vmn2r50 |
A |
T |
7: 9,779,964 (GRCm39) |
Y472* |
probably null |
Het |
| Vmn2r74 |
T |
A |
7: 85,601,943 (GRCm39) |
D565V |
probably benign |
Het |
| Vmn2r74 |
T |
A |
7: 85,606,860 (GRCm39) |
|
probably null |
Het |
| Vmn2r82 |
T |
A |
10: 79,232,377 (GRCm39) |
V792E |
probably damaging |
Het |
| Zfp335 |
G |
A |
2: 164,735,210 (GRCm39) |
Q1179* |
probably null |
Het |
| Zmynd12 |
A |
C |
4: 119,310,772 (GRCm39) |
K327Q |
probably benign |
Het |
| Zwilch |
G |
A |
9: 64,072,731 (GRCm39) |
Q27* |
probably null |
Het |
|
| Other mutations in Gsap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- GCTTAATGTTCCTTTCAGTACACTG -3'
(R):5'- ATACTTGGCTGCTGACCCTG -3'
Sequencing Primer
(F):5'- GGAAACATCTGCATGGTG -3'
(R):5'- GGTCCCAGTGCTAAGACAGAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation