Incidental Mutation 'R8798:Gsap'
| ID |
671360 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsap
|
| Ensembl Gene |
ENSMUSG00000039934 |
| Gene Name |
gamma-secretase activating protein |
| Synonyms |
A530088I07Rik, Pion |
| MMRRC Submission |
068724-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R8798 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21391253-21520130 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 21476248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036031]
[ENSMUST00000195969]
[ENSMUST00000198014]
[ENSMUST00000198937]
|
| AlphaFold |
Q3TCV3 |
| Predicted Effect |
probably null
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 |
probably benign
Transcript: ENSMUST00000198014
|
| 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 |
|
| Meta Mutation Damage Score |
0.9497 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (74/74) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
G |
A |
8: 79,937,380 (GRCm39) |
R176* |
probably null |
Het |
| 4921539E11Rik |
A |
C |
4: 103,123,574 (GRCm39) |
|
probably benign |
Het |
| Abcc2 |
A |
G |
19: 43,797,105 (GRCm39) |
N492S |
probably benign |
Het |
| Acox1 |
T |
C |
11: 116,065,183 (GRCm39) |
Y624C |
probably damaging |
Het |
| Aff4 |
T |
C |
11: 53,291,335 (GRCm39) |
|
probably benign |
Het |
| Ak9 |
T |
A |
10: 41,258,847 (GRCm39) |
D781E |
|
Het |
| Arfgef3 |
T |
C |
10: 18,522,799 (GRCm39) |
D409G |
probably damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,414,645 (GRCm39) |
Y8N |
probably benign |
Het |
| Blnk |
A |
G |
19: 40,950,795 (GRCm39) |
Y119H |
probably damaging |
Het |
| Brsk2 |
T |
C |
7: 141,541,601 (GRCm39) |
L310P |
probably damaging |
Het |
| Cgas |
G |
A |
9: 78,350,348 (GRCm39) |
R5C |
probably benign |
Het |
| Cit |
T |
A |
5: 116,107,102 (GRCm39) |
L1078Q |
probably damaging |
Het |
| Cpn1 |
A |
T |
19: 43,974,675 (GRCm39) |
V18D |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 47,595,382 (GRCm39) |
Y1115N |
|
Het |
| Dnah9 |
A |
C |
11: 65,796,057 (GRCm39) |
V3589G |
probably damaging |
Het |
| Dpp9 |
T |
C |
17: 56,506,037 (GRCm39) |
Y454C |
probably damaging |
Het |
| Eif3i |
A |
G |
4: 129,490,717 (GRCm39) |
V67A |
probably benign |
Het |
| Eif6 |
T |
C |
2: 155,664,886 (GRCm39) |
N200S |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,051,605 (GRCm39) |
H502R |
possibly damaging |
Het |
| Fcer1a |
A |
G |
1: 173,053,047 (GRCm39) |
Y50H |
probably benign |
Het |
| Filip1 |
G |
A |
9: 79,727,372 (GRCm39) |
H416Y |
possibly damaging |
Het |
| Frmpd1 |
A |
T |
4: 45,285,424 (GRCm39) |
N1415I |
possibly damaging |
Het |
| Gdpgp1 |
C |
T |
7: 79,888,725 (GRCm39) |
P252L |
probably damaging |
Het |
| Hgs |
T |
C |
11: 120,370,938 (GRCm39) |
V598A |
probably benign |
Het |
| Irf2 |
G |
T |
8: 47,260,349 (GRCm39) |
V94L |
probably benign |
Het |
| Kalrn |
G |
T |
16: 33,803,225 (GRCm39) |
H2675Q |
possibly damaging |
Het |
| Klhl33 |
C |
A |
14: 51,130,565 (GRCm39) |
A50S |
possibly damaging |
Het |
| Klk1b11 |
T |
C |
7: 43,645,372 (GRCm39) |
I15T |
probably benign |
Het |
| Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
| Lrrn3 |
A |
G |
12: 41,503,174 (GRCm39) |
M381T |
possibly damaging |
Het |
| Ltbr |
A |
G |
6: 125,284,258 (GRCm39) |
Y395H |
probably benign |
Het |
| Ltf |
A |
G |
9: 110,852,828 (GRCm39) |
|
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,154,270 (GRCm39) |
F1059S |
probably benign |
Het |
| Lypd6 |
T |
A |
2: 50,078,774 (GRCm39) |
I90N |
possibly damaging |
Het |
| Map1a |
G |
A |
2: 121,132,768 (GRCm39) |
V1195M |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,978,191 (GRCm39) |
I1320F |
probably damaging |
Het |
| Mug2 |
A |
G |
6: 122,058,569 (GRCm39) |
T1324A |
probably damaging |
Het |
| Mylk |
G |
A |
16: 34,719,772 (GRCm39) |
V562M |
possibly damaging |
Het |
| Myo15b |
G |
A |
11: 115,754,232 (GRCm39) |
G911R |
|
Het |
| Neo1 |
A |
G |
9: 58,820,449 (GRCm39) |
Y825H |
probably damaging |
Het |
| Nfat5 |
T |
G |
8: 108,074,321 (GRCm39) |
V343G |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,330,887 (GRCm39) |
I503K |
possibly damaging |
Het |
| Or10d5 |
G |
A |
9: 39,862,013 (GRCm39) |
T18I |
probably benign |
Het |
| Or13d1 |
C |
A |
4: 52,970,790 (GRCm39) |
H56Q |
possibly damaging |
Het |
| Or5k16 |
A |
T |
16: 58,736,307 (GRCm39) |
D232E |
probably benign |
Het |
| Or8d2 |
G |
A |
9: 38,760,213 (GRCm39) |
E268K |
probably benign |
Het |
| Pdcl2 |
T |
C |
5: 76,472,947 (GRCm39) |
D7G |
probably damaging |
Het |
| Phyh |
C |
T |
2: 4,923,893 (GRCm39) |
R5C |
probably damaging |
Het |
| Prr11 |
A |
C |
11: 86,996,881 (GRCm39) |
S28A |
unknown |
Het |
| Psmd13 |
T |
A |
7: 140,477,663 (GRCm39) |
L190* |
probably null |
Het |
| Ptx4 |
A |
G |
17: 25,343,716 (GRCm39) |
D322G |
probably damaging |
Het |
| Rnf40 |
T |
C |
7: 127,188,954 (GRCm39) |
L109P |
probably damaging |
Het |
| Rrp1 |
T |
C |
10: 78,245,024 (GRCm39) |
T102A |
probably damaging |
Het |
| Sema4a |
T |
G |
3: 88,344,004 (GRCm39) |
D749A |
possibly damaging |
Het |
| Serpina3f |
A |
T |
12: 104,183,702 (GRCm39) |
D188V |
probably benign |
Het |
| Smarca5 |
C |
A |
8: 81,443,137 (GRCm39) |
A570S |
probably damaging |
Het |
| Spocd1 |
G |
C |
4: 129,823,997 (GRCm39) |
|
probably null |
Het |
| Stard9 |
G |
A |
2: 120,535,212 (GRCm39) |
G3823D |
probably benign |
Het |
| Suco |
A |
G |
1: 161,648,004 (GRCm39) |
L1094S |
probably damaging |
Het |
| Tcf7 |
T |
C |
11: 52,151,421 (GRCm39) |
D79G |
probably damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,228,605 (GRCm39) |
M39T |
probably damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,217,209 (GRCm39) |
N321S |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,437,217 (GRCm39) |
Y235* |
probably null |
Het |
| Tnfaip6 |
T |
C |
2: 51,933,824 (GRCm39) |
F60L |
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,572,620 (GRCm39) |
I411V |
probably benign |
Het |
| Trio |
A |
C |
15: 27,851,923 (GRCm39) |
V856G |
possibly damaging |
Het |
| Trpc2 |
C |
G |
7: 101,733,767 (GRCm39) |
R239G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,656,476 (GRCm39) |
V12502I |
unknown |
Het |
| Usf3 |
A |
G |
16: 44,040,536 (GRCm39) |
D1672G |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,236,436 (GRCm39) |
N1011S |
probably benign |
Het |
| Vac14 |
A |
G |
8: 111,446,519 (GRCm39) |
E756G |
probably benign |
Het |
| Vmn2r41 |
A |
G |
7: 8,164,522 (GRCm39) |
L10P |
probably damaging |
Het |
| Xrcc5 |
T |
C |
1: 72,353,337 (GRCm39) |
M115T |
probably damaging |
Het |
| Zfp1006 |
G |
A |
8: 129,945,779 (GRCm39) |
H349Y |
probably damaging |
Het |
| Zfp827 |
G |
A |
8: 79,916,463 (GRCm39) |
|
probably benign |
Het |
| Zmym1 |
A |
T |
4: 126,943,664 (GRCm39) |
N241K |
possibly damaging |
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 |
|
|
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 |
|
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'- AAGGGCTTTGAGATTCGTAATTGC -3'
(R):5'- CCCAGTGCTAAGACAGACAG -3'
Sequencing Primer
(F):5'- GCTTAATGTTCCTTTCAGTACACTG -3'
(R):5'- CAGTAACAGAGCTATGTGGTCGTCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation