Incidental Mutation 'R5120:Gsap'
| ID |
392914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsap
|
| Ensembl Gene |
ENSMUSG00000039934 |
| Gene Name |
gamma-secretase activating protein |
| Synonyms |
A530088I07Rik, Pion |
| MMRRC Submission |
042708-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R5120 (G1)
|
| Quality Score |
199 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21391253-21520130 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21474934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 500
(N500S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036031]
[ENSMUST00000195969]
[ENSMUST00000198014]
[ENSMUST00000198937]
|
| AlphaFold |
Q3TCV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036031
AA Change: N531S
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: N531S
| 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 |
probably damaging
Transcript: ENSMUST00000198937
AA Change: N500S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
AA Change: N500S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
355 |
367 |
N/A |
INTRINSIC |
|
Pfam:GSAP-16
|
608 |
722 |
1.6e-42 |
PFAM |
|
| Meta Mutation Damage Score |
0.0632 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.6%
|
| Validation Efficiency |
100% (97/97) |
| 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 |
|---|
| 2310033P09Rik |
A |
G |
11: 59,101,061 (GRCm39) |
H225R |
probably benign |
Het |
| Abcc9 |
T |
A |
6: 142,602,344 (GRCm39) |
I690F |
probably benign |
Het |
| Acp4 |
A |
T |
7: 43,906,395 (GRCm39) |
D52E |
probably damaging |
Het |
| Adam17 |
T |
C |
12: 21,393,020 (GRCm39) |
|
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,832,872 (GRCm39) |
E221G |
probably damaging |
Het |
| Aoc2 |
A |
G |
11: 101,216,540 (GRCm39) |
T208A |
probably benign |
Het |
| Apoa4 |
T |
G |
9: 46,154,035 (GRCm39) |
I212S |
probably damaging |
Het |
| Bptf |
A |
T |
11: 106,964,211 (GRCm39) |
M1598K |
probably damaging |
Het |
| Camsap3 |
G |
A |
8: 3,650,680 (GRCm39) |
R209Q |
probably damaging |
Het |
| Ccdc171 |
C |
A |
4: 83,476,763 (GRCm39) |
|
probably benign |
Het |
| Celsr2 |
G |
C |
3: 108,300,436 (GRCm39) |
P2875A |
probably benign |
Het |
| Cenpb |
A |
G |
2: 131,021,738 (GRCm39) |
V20A |
probably benign |
Het |
| Cfap61 |
A |
T |
2: 145,985,080 (GRCm39) |
K975* |
probably null |
Het |
| Cfhr4 |
T |
C |
1: 139,680,841 (GRCm39) |
S226G |
probably benign |
Het |
| Col9a2 |
G |
T |
4: 120,896,969 (GRCm39) |
A20S |
unknown |
Het |
| Crnn |
A |
T |
3: 93,056,203 (GRCm39) |
I330F |
probably benign |
Het |
| Csf3r |
C |
A |
4: 125,929,620 (GRCm39) |
P381Q |
probably benign |
Het |
| Csmd3 |
G |
A |
15: 48,536,891 (GRCm39) |
Q104* |
probably null |
Het |
| Ctnna1 |
G |
A |
18: 35,315,607 (GRCm39) |
|
probably null |
Het |
| Cwf19l2 |
C |
T |
9: 3,418,761 (GRCm39) |
Q183* |
probably null |
Het |
| Ddx60 |
T |
C |
8: 62,398,940 (GRCm39) |
Y220H |
probably benign |
Het |
| Dhh |
T |
C |
15: 98,796,038 (GRCm39) |
Q39R |
probably benign |
Het |
| Dynlrb2 |
T |
A |
8: 117,242,437 (GRCm39) |
I89N |
possibly damaging |
Het |
| Dytn |
T |
C |
1: 63,662,202 (GRCm39) |
E645G |
probably benign |
Het |
| Efcab7 |
A |
G |
4: 99,754,688 (GRCm39) |
T287A |
probably damaging |
Het |
| Eogt |
A |
G |
6: 97,111,276 (GRCm39) |
V195A |
probably benign |
Het |
| Ep400 |
G |
T |
5: 110,904,224 (GRCm39) |
P125Q |
probably damaging |
Het |
| Fasn |
A |
G |
11: 120,702,217 (GRCm39) |
V1815A |
probably benign |
Het |
| Gm5866 |
T |
C |
5: 52,740,224 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8674 |
C |
A |
13: 50,055,984 (GRCm39) |
|
noncoding transcript |
Het |
| Gpat4 |
G |
T |
8: 23,670,218 (GRCm39) |
H270Q |
possibly damaging |
Het |
| Grik5 |
A |
G |
7: 24,710,065 (GRCm39) |
L890P |
probably damaging |
Het |
| H2-M10.1 |
T |
C |
17: 36,636,048 (GRCm39) |
D173G |
probably benign |
Het |
| Igfn1 |
T |
A |
1: 135,901,240 (GRCm39) |
I413F |
possibly damaging |
Het |
| Ighv1-52 |
G |
T |
12: 115,109,406 (GRCm39) |
H17N |
probably benign |
Het |
| Kcnu1 |
T |
A |
8: 26,424,516 (GRCm39) |
D270E |
possibly damaging |
Het |
| Kif16b |
A |
C |
2: 142,690,259 (GRCm39) |
N274K |
probably damaging |
Het |
| Klk1b11 |
C |
T |
7: 43,648,446 (GRCm39) |
T151I |
probably benign |
Het |
| Krtap13 |
A |
G |
16: 88,548,458 (GRCm39) |
F10S |
probably damaging |
Het |
| Large1 |
A |
T |
8: 73,585,969 (GRCm39) |
I379N |
probably damaging |
Het |
| Lhx8 |
T |
C |
3: 154,017,332 (GRCm39) |
H301R |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,835,021 (GRCm39) |
V252A |
probably benign |
Het |
| Lysmd3 |
T |
A |
13: 81,817,311 (GRCm39) |
I96N |
probably damaging |
Het |
| Mpeg1 |
C |
T |
19: 12,438,793 (GRCm39) |
Q84* |
probably null |
Het |
| Myoz1 |
C |
T |
14: 20,700,722 (GRCm39) |
G165D |
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,439,413 (GRCm39) |
V312I |
probably benign |
Het |
| Ndufb7 |
T |
C |
8: 84,293,606 (GRCm39) |
|
probably benign |
Het |
| Numa1 |
C |
T |
7: 101,626,644 (GRCm39) |
T10M |
probably damaging |
Het |
| Or10d1b |
T |
A |
9: 39,613,366 (GRCm39) |
H233L |
probably benign |
Het |
| Or1e30 |
A |
C |
11: 73,677,790 (GRCm39) |
I9L |
probably benign |
Het |
| Or2g7 |
A |
T |
17: 38,378,157 (GRCm39) |
I32F |
probably damaging |
Het |
| Or4f14d |
A |
T |
2: 111,960,903 (GRCm39) |
D84E |
probably damaging |
Het |
| Or4k39 |
T |
C |
2: 111,239,585 (GRCm39) |
|
noncoding transcript |
Het |
| Osmr |
A |
T |
15: 6,856,756 (GRCm39) |
S464T |
probably benign |
Het |
| Pak5 |
G |
A |
2: 135,925,149 (GRCm39) |
H718Y |
probably damaging |
Het |
| Pan2 |
T |
A |
10: 128,150,864 (GRCm39) |
|
probably null |
Het |
| Pik3r4 |
T |
C |
9: 105,546,208 (GRCm39) |
S853P |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Polr3gl |
T |
A |
3: 96,485,795 (GRCm39) |
|
probably benign |
Het |
| Psd2 |
G |
A |
18: 36,112,863 (GRCm39) |
R186Q |
possibly damaging |
Het |
| Psd4 |
T |
C |
2: 24,295,450 (GRCm39) |
V868A |
probably benign |
Het |
| Ralgapa2 |
G |
T |
2: 146,254,004 (GRCm39) |
T852K |
probably benign |
Het |
| Rbm43 |
T |
C |
2: 51,822,435 (GRCm39) |
|
probably benign |
Het |
| Rps6kl1 |
C |
A |
12: 85,186,122 (GRCm39) |
G329C |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,317,423 (GRCm39) |
T714A |
probably benign |
Het |
| Selenoo |
C |
A |
15: 88,978,508 (GRCm39) |
N310K |
possibly damaging |
Het |
| Sepsecs |
T |
C |
5: 52,818,003 (GRCm39) |
Q258R |
probably damaging |
Het |
| Sgcz |
T |
C |
8: 37,993,420 (GRCm39) |
S226G |
probably benign |
Het |
| Slfn5 |
A |
G |
11: 82,851,754 (GRCm39) |
K627E |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,715,677 (GRCm39) |
F1027I |
probably damaging |
Het |
| Ssh1 |
C |
G |
5: 114,095,459 (GRCm39) |
V228L |
possibly damaging |
Het |
| Sugp1 |
C |
A |
8: 70,501,317 (GRCm39) |
P65T |
probably benign |
Het |
| Tas2r106 |
T |
A |
6: 131,655,779 (GRCm39) |
N24I |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,459,272 (GRCm39) |
E534G |
possibly damaging |
Het |
| Tmem182 |
C |
T |
1: 40,894,061 (GRCm39) |
T192I |
possibly damaging |
Het |
| Traf7 |
T |
A |
17: 24,737,718 (GRCm39) |
K51* |
probably null |
Het |
| Trap1 |
C |
A |
16: 3,861,952 (GRCm39) |
R604L |
probably damaging |
Het |
| Trim6 |
T |
A |
7: 103,877,447 (GRCm39) |
L179Q |
probably damaging |
Het |
| Ubfd1 |
T |
C |
7: 121,670,973 (GRCm39) |
S264P |
probably damaging |
Het |
| Upk3bl |
T |
C |
5: 136,093,045 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
T |
A |
5: 102,015,972 (GRCm39) |
Q2601L |
possibly damaging |
Het |
| Wdr89 |
A |
G |
12: 75,679,412 (GRCm39) |
Y281H |
probably damaging |
Het |
| Zfp286 |
A |
T |
11: 62,671,551 (GRCm39) |
M174K |
probably benign |
Het |
| Zmym1 |
T |
C |
4: 126,945,230 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAACTTCTCGTGGGTGTC -3'
(R):5'- ACAGTATAGAGCAGTCCTCCC -3'
Sequencing Primer
(F):5'- CCCTGTTCTGTGAAAGATGGAG -3'
(R):5'- TGCCCACTGGGTTGTCAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation