Incidental Mutation 'IGL01347:Gsap'
| ID |
75106 |
| 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: 0.118)
|
| Stock # |
IGL01347
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
21391253-21520130 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21431318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 214
(E214G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036031]
[ENSMUST00000195969]
[ENSMUST00000198014]
[ENSMUST00000198071]
[ENSMUST00000198937]
|
| AlphaFold |
Q3TCV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036031
AA Change: E214G
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: E214G
| 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 |
noncoding transcript
Transcript: ENSMUST00000197522
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198014
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198071
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198937
AA Change: E214G
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
AA Change: E214G
| 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 |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l2 |
A |
T |
6: 48,909,477 (GRCm39) |
Y574F |
probably benign |
Het |
| Apc |
C |
T |
18: 34,450,723 (GRCm39) |
P2506S |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,206,711 (GRCm39) |
K610N |
possibly damaging |
Het |
| Bri3bp |
T |
G |
5: 125,531,581 (GRCm39) |
C176G |
probably damaging |
Het |
| Carnmt1 |
A |
G |
19: 18,668,818 (GRCm39) |
I248V |
probably benign |
Het |
| Ccdc88b |
A |
G |
19: 6,822,454 (GRCm39) |
L1475P |
probably damaging |
Het |
| Cfap100 |
C |
T |
6: 90,383,103 (GRCm39) |
V511M |
possibly damaging |
Het |
| Chchd3 |
T |
C |
6: 32,780,838 (GRCm39) |
N78S |
probably benign |
Het |
| Cnnm4 |
G |
A |
1: 36,537,115 (GRCm39) |
E480K |
possibly damaging |
Het |
| Cyp2d34 |
T |
A |
15: 82,500,978 (GRCm39) |
I385F |
possibly damaging |
Het |
| D930048N14Rik |
T |
A |
11: 51,545,615 (GRCm39) |
|
probably benign |
Het |
| Dgkg |
A |
T |
16: 22,419,340 (GRCm39) |
D53E |
probably benign |
Het |
| Dlx3 |
T |
A |
11: 95,011,359 (GRCm39) |
L71H |
probably damaging |
Het |
| Egln2 |
A |
C |
7: 26,859,717 (GRCm39) |
V332G |
probably null |
Het |
| Entpd2 |
A |
G |
2: 25,288,746 (GRCm39) |
Q250R |
probably benign |
Het |
| Epyc |
A |
G |
10: 97,510,593 (GRCm39) |
D132G |
probably damaging |
Het |
| Fxr2 |
A |
G |
11: 69,543,114 (GRCm39) |
D637G |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,596,708 (GRCm39) |
|
probably null |
Het |
| Gbp11 |
G |
A |
5: 105,479,194 (GRCm39) |
|
probably benign |
Het |
| Gm17175 |
A |
T |
14: 51,808,307 (GRCm39) |
C162S |
probably damaging |
Het |
| Gm5499 |
C |
T |
17: 87,386,339 (GRCm39) |
|
noncoding transcript |
Het |
| Gps1 |
T |
C |
11: 120,679,086 (GRCm39) |
V378A |
probably benign |
Het |
| Grik1 |
C |
T |
16: 87,754,481 (GRCm39) |
R368Q |
probably benign |
Het |
| H2bc13 |
A |
G |
13: 21,900,064 (GRCm39) |
Y84H |
probably damaging |
Het |
| Jdp2 |
T |
C |
12: 85,655,020 (GRCm39) |
S28P |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,698,240 (GRCm39) |
F577S |
probably damaging |
Het |
| Kl |
G |
A |
5: 150,904,130 (GRCm39) |
G294D |
probably damaging |
Het |
| Lgsn |
T |
A |
1: 31,243,041 (GRCm39) |
D374E |
probably damaging |
Het |
| Lman1 |
T |
C |
18: 66,124,681 (GRCm39) |
I353V |
probably damaging |
Het |
| Lmna |
T |
C |
3: 88,392,270 (GRCm39) |
H374R |
probably benign |
Het |
| Lrrc57 |
A |
G |
2: 120,439,286 (GRCm39) |
S31P |
probably benign |
Het |
| Lum |
T |
A |
10: 97,404,547 (GRCm39) |
N147K |
probably damaging |
Het |
| Or6n2 |
T |
C |
1: 173,897,632 (GRCm39) |
I256T |
probably benign |
Het |
| Or7a41 |
A |
G |
10: 78,871,445 (GRCm39) |
T272A |
probably benign |
Het |
| P4ha3 |
C |
A |
7: 99,955,140 (GRCm39) |
L332I |
probably damaging |
Het |
| Pelp1 |
A |
G |
11: 70,286,505 (GRCm39) |
I541T |
probably damaging |
Het |
| Pja2 |
A |
C |
17: 64,620,023 (GRCm39) |
S2A |
probably benign |
Het |
| Rhbdl3 |
T |
C |
11: 80,244,268 (GRCm39) |
L325P |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 74,149,744 (GRCm39) |
D28G |
probably damaging |
Het |
| Rpa1 |
A |
G |
11: 75,198,111 (GRCm39) |
Y470H |
probably damaging |
Het |
| Rtn3 |
T |
C |
19: 7,434,645 (GRCm39) |
N430S |
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,414,538 (GRCm39) |
I62L |
probably benign |
Het |
| Scn5a |
T |
A |
9: 119,391,507 (GRCm39) |
K62* |
probably null |
Het |
| Sec23ip |
T |
C |
7: 128,364,129 (GRCm39) |
V469A |
probably benign |
Het |
| Shank1 |
A |
G |
7: 43,991,544 (GRCm39) |
T663A |
unknown |
Het |
| Slco1a7 |
A |
T |
6: 141,700,192 (GRCm39) |
Y113* |
probably null |
Het |
| Stab2 |
G |
T |
10: 86,737,567 (GRCm39) |
|
probably null |
Het |
| Tmcc3 |
T |
C |
10: 94,418,147 (GRCm39) |
L305P |
probably damaging |
Het |
| Tmem145 |
A |
G |
7: 25,014,260 (GRCm39) |
N458S |
probably damaging |
Het |
| Tpr |
G |
A |
1: 150,302,738 (GRCm39) |
R1412Q |
probably damaging |
Het |
| Wdr1 |
A |
T |
5: 38,703,058 (GRCm39) |
F173I |
possibly damaging |
Het |
| Wdr17 |
C |
T |
8: 55,104,380 (GRCm39) |
V898I |
probably benign |
Het |
| Wdr64 |
A |
T |
1: 175,547,899 (GRCm39) |
L145F |
probably benign |
Het |
| Wnt10b |
A |
G |
15: 98,674,826 (GRCm39) |
|
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,298,957 (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 |
|
|
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 |
|
|
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 |
2013-10-07 |
Incidental Mutation