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)
|
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
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 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
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: 99.3%
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |