Incidental Mutation 'R0012:Gsap'
| ID |
32543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsap
|
| Ensembl Gene |
ENSMUSG00000039934 |
| Gene Name |
gamma-secretase activating protein |
| Synonyms |
A530088I07Rik, Pion |
| MMRRC Submission |
038307-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R0012 (G1)
|
| Quality Score |
192 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21391253-21520130 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 21431227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036031]
[ENSMUST00000195969]
[ENSMUST00000198014]
[ENSMUST00000198071]
[ENSMUST00000198937]
|
| AlphaFold |
Q3TCV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036031
|
| SMART Domains |
Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
| 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
|
| SMART Domains |
Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.7%
|
| Validation Efficiency |
98% (81/83) |
| 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 |
|---|
| Adam33 |
A |
T |
2: 130,894,840 (GRCm39) |
L687Q |
probably damaging |
Het |
| Adap1 |
A |
G |
5: 139,293,489 (GRCm39) |
|
probably benign |
Het |
| Add2 |
T |
A |
6: 86,075,610 (GRCm39) |
V253E |
probably damaging |
Het |
| Agtr1a |
A |
T |
13: 30,565,732 (GRCm39) |
I266F |
probably damaging |
Het |
| Anxa9 |
A |
G |
3: 95,215,406 (GRCm39) |
|
probably benign |
Het |
| Arap2 |
G |
A |
5: 62,840,827 (GRCm39) |
L680F |
probably damaging |
Het |
| Bnip3 |
A |
G |
7: 138,500,401 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
A |
C |
16: 95,860,852 (GRCm39) |
S311R |
probably damaging |
Het |
| C2cd3 |
G |
A |
7: 100,067,729 (GRCm39) |
V871M |
possibly damaging |
Het |
| Cacul1 |
A |
G |
19: 60,552,691 (GRCm39) |
W145R |
probably damaging |
Het |
| Celf5 |
C |
A |
10: 81,305,346 (GRCm39) |
V141L |
probably damaging |
Het |
| Cfap206 |
C |
A |
4: 34,714,519 (GRCm39) |
L392F |
possibly damaging |
Het |
| Chd2 |
G |
T |
7: 73,105,267 (GRCm39) |
T192K |
probably damaging |
Het |
| Chrna10 |
T |
C |
7: 101,764,264 (GRCm39) |
N40S |
possibly damaging |
Het |
| Cic |
T |
A |
7: 24,986,565 (GRCm39) |
S1299T |
probably damaging |
Het |
| Cic |
C |
A |
7: 24,986,566 (GRCm39) |
S1299Y |
probably damaging |
Het |
| Clspn |
T |
A |
4: 126,458,722 (GRCm39) |
|
probably benign |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Col5a3 |
A |
T |
9: 20,688,404 (GRCm39) |
|
probably benign |
Het |
| Copb1 |
T |
A |
7: 113,836,643 (GRCm39) |
K366N |
probably damaging |
Het |
| Cul9 |
G |
A |
17: 46,849,436 (GRCm39) |
R570C |
probably benign |
Het |
| Cyp2c70 |
A |
T |
19: 40,175,687 (GRCm39) |
L7Q |
probably null |
Het |
| Dock2 |
T |
C |
11: 34,674,622 (GRCm39) |
E10G |
possibly damaging |
Het |
| Dpysl4 |
T |
G |
7: 138,677,799 (GRCm39) |
I412S |
probably benign |
Het |
| Eaf2 |
T |
A |
16: 36,628,536 (GRCm39) |
|
probably benign |
Het |
| Fasl |
T |
C |
1: 161,615,733 (GRCm39) |
D41G |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,153,697 (GRCm39) |
V3505A |
probably benign |
Het |
| Fbxo24 |
A |
G |
5: 137,620,256 (GRCm39) |
F101S |
probably damaging |
Het |
| Fdft1 |
T |
C |
14: 63,415,147 (GRCm39) |
I28M |
probably benign |
Het |
| Gcnt3 |
T |
C |
9: 69,941,367 (GRCm39) |
I400M |
probably benign |
Het |
| Get3 |
T |
C |
8: 85,751,725 (GRCm39) |
|
probably benign |
Het |
| Gpd2 |
T |
A |
2: 57,228,880 (GRCm39) |
M228K |
probably damaging |
Het |
| Hipk1 |
A |
G |
3: 103,670,996 (GRCm39) |
M467T |
probably damaging |
Het |
| Hmgb4 |
T |
A |
4: 128,154,518 (GRCm39) |
I17F |
probably damaging |
Het |
| Ints10 |
C |
A |
8: 69,260,127 (GRCm39) |
L284M |
probably benign |
Het |
| Kif17 |
T |
G |
4: 138,021,059 (GRCm39) |
S606A |
probably damaging |
Het |
| Lifr |
C |
A |
15: 7,205,089 (GRCm39) |
T442K |
possibly damaging |
Het |
| Lypd4 |
A |
G |
7: 24,564,757 (GRCm39) |
L127P |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,862,279 (GRCm39) |
H2605R |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,457,076 (GRCm39) |
S1289P |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,742,190 (GRCm39) |
|
probably null |
Het |
| Mob1b |
G |
A |
5: 88,903,943 (GRCm39) |
|
probably benign |
Het |
| Mrgpra1 |
A |
G |
7: 46,985,218 (GRCm39) |
S154P |
probably damaging |
Het |
| Ms4a4c |
C |
A |
19: 11,396,344 (GRCm39) |
|
probably benign |
Het |
| Mthfd2l |
A |
T |
5: 91,109,242 (GRCm39) |
H224L |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,190,847 (GRCm39) |
Y1350H |
probably benign |
Het |
| Nectin2 |
T |
C |
7: 19,464,669 (GRCm39) |
|
probably benign |
Het |
| Nos1 |
A |
C |
5: 118,031,967 (GRCm39) |
N305T |
probably damaging |
Het |
| Ogfrl1 |
T |
A |
1: 23,409,206 (GRCm39) |
Q340L |
possibly damaging |
Het |
| Or2aj5 |
T |
C |
16: 19,425,190 (GRCm39) |
N76S |
probably benign |
Het |
| Or4f62 |
A |
T |
2: 111,987,171 (GRCm39) |
N292Y |
possibly damaging |
Het |
| Or6k14 |
T |
G |
1: 173,927,773 (GRCm39) |
F250V |
probably damaging |
Het |
| Or9i1 |
C |
A |
19: 13,839,187 (GRCm39) |
T10K |
probably damaging |
Het |
| Orc1 |
T |
C |
4: 108,452,843 (GRCm39) |
|
probably null |
Het |
| Plekhg5 |
C |
A |
4: 152,189,207 (GRCm39) |
D249E |
probably benign |
Het |
| Plet1 |
A |
G |
9: 50,410,430 (GRCm39) |
I74V |
probably benign |
Het |
| Psmd2 |
T |
A |
16: 20,480,434 (GRCm39) |
D718E |
probably damaging |
Het |
| Rab33b |
G |
T |
3: 51,391,737 (GRCm39) |
|
probably benign |
Het |
| Rae1 |
T |
A |
2: 172,844,466 (GRCm39) |
F4I |
unknown |
Het |
| Ralgapa2 |
A |
G |
2: 146,254,672 (GRCm39) |
Y821H |
probably benign |
Het |
| Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
| Sharpin |
G |
T |
15: 76,232,543 (GRCm39) |
P156T |
possibly damaging |
Het |
| Slc38a4 |
C |
T |
15: 96,897,510 (GRCm39) |
R435H |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,070,469 (GRCm39) |
V1061A |
probably benign |
Het |
| Suclg1 |
A |
G |
6: 73,247,980 (GRCm39) |
T234A |
possibly damaging |
Het |
| Swsap1 |
T |
C |
9: 21,868,318 (GRCm39) |
C197R |
probably benign |
Het |
| Tbx15 |
A |
G |
3: 99,259,412 (GRCm39) |
T428A |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,182,319 (GRCm39) |
Y1215C |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,979,523 (GRCm39) |
|
probably benign |
Het |
| Tmem209 |
G |
T |
6: 30,502,112 (GRCm39) |
|
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,589,176 (GRCm39) |
E58G |
probably damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,272,283 (GRCm39) |
M464K |
probably damaging |
Het |
| Ttc32 |
A |
G |
12: 9,085,897 (GRCm39) |
Y148C |
possibly damaging |
Het |
| Unc80 |
T |
C |
1: 66,546,550 (GRCm39) |
S541P |
probably damaging |
Het |
| Ushbp1 |
T |
C |
8: 71,847,684 (GRCm39) |
|
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,725,136 (GRCm39) |
M22V |
probably benign |
Het |
| Vmn2r100 |
A |
T |
17: 19,746,296 (GRCm39) |
E485V |
probably damaging |
Het |
| Wdr24 |
G |
A |
17: 26,046,087 (GRCm39) |
V471I |
probably benign |
Het |
| Zfp35 |
T |
A |
18: 24,136,001 (GRCm39) |
M115K |
probably benign |
Het |
| Zfp429 |
G |
A |
13: 67,538,796 (GRCm39) |
S216L |
probably benign |
Het |
| Zfp644 |
T |
G |
5: 106,782,909 (GRCm39) |
E1155A |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGACTTGCCTGTTGAGCTAAGAG -3'
(R):5'- TGACTGCCCCATTAAAGACACTGTG -3'
Sequencing Primer
(F):5'- GGAAGAATAGAGTACAGGCCATTAG -3'
(R):5'- ccccctcttctcccctc -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation