Incidental Mutation 'R4271:Gsap'
ID |
322154 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gsap
|
Ensembl Gene |
ENSMUSG00000039934 |
Gene Name |
gamma-secretase activating protein |
Synonyms |
A530088I07Rik, Pion |
MMRRC Submission |
041076-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R4271 (G1)
|
Quality Score |
225 |
Status
|
Not 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 21431348 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]
[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 |
noncoding transcript
Transcript: ENSMUST00000197522
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198014
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198071
|
Predicted Effect |
probably null
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 |
|
Predicted Effect |
probably null
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: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931422A03Rik |
A |
G |
2: 103,856,549 (GRCm39) |
|
probably benign |
Het |
Acp6 |
T |
C |
3: 97,073,934 (GRCm39) |
|
probably null |
Het |
Actr6 |
T |
A |
10: 89,553,101 (GRCm39) |
R252S |
probably benign |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Ash1l |
T |
A |
3: 88,889,347 (GRCm39) |
C409S |
probably benign |
Het |
Aspg |
T |
C |
12: 112,087,629 (GRCm39) |
S327P |
probably damaging |
Het |
B430203G13Rik |
CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
12: 17,974,358 (GRCm39) |
|
noncoding transcript |
Het |
C1galt1 |
T |
C |
6: 7,866,607 (GRCm39) |
F151S |
probably damaging |
Het |
C1qtnf6 |
G |
A |
15: 78,409,466 (GRCm39) |
T127I |
probably benign |
Het |
Ccdc88c |
G |
T |
12: 100,913,478 (GRCm39) |
Q516K |
probably damaging |
Het |
Cdh11 |
T |
A |
8: 103,391,258 (GRCm39) |
D326V |
possibly damaging |
Het |
Cecr2 |
C |
T |
6: 120,739,436 (GRCm39) |
H1360Y |
probably damaging |
Het |
Cfap70 |
T |
C |
14: 20,470,793 (GRCm39) |
E484G |
probably benign |
Het |
Chml |
G |
A |
1: 175,515,360 (GRCm39) |
T187M |
probably benign |
Het |
Chpt1 |
C |
T |
10: 88,317,214 (GRCm39) |
|
probably benign |
Het |
Cmtr1 |
T |
C |
17: 29,916,956 (GRCm39) |
S618P |
probably benign |
Het |
Cspg4b |
G |
T |
13: 113,478,904 (GRCm39) |
V1483L |
possibly damaging |
Het |
Cyfip1 |
A |
T |
7: 55,528,849 (GRCm39) |
M244L |
probably benign |
Het |
Dock1 |
T |
C |
7: 134,335,783 (GRCm39) |
I59T |
probably damaging |
Het |
Duox1 |
T |
C |
2: 122,154,856 (GRCm39) |
F414L |
probably damaging |
Het |
Gm1110 |
A |
T |
9: 26,806,944 (GRCm39) |
|
probably null |
Het |
H2-T3 |
T |
C |
17: 36,500,510 (GRCm39) |
Y111C |
probably damaging |
Het |
Hectd4 |
AGCGGCGGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGGCGGCGG |
5: 121,358,567 (GRCm39) |
|
probably benign |
Het |
Kif12 |
T |
C |
4: 63,088,983 (GRCm39) |
Q146R |
probably benign |
Het |
Kif26a |
C |
T |
12: 112,139,848 (GRCm39) |
S460F |
probably damaging |
Het |
Klhl15 |
AG |
A |
X: 93,296,718 (GRCm39) |
|
probably null |
Het |
Lims1 |
T |
C |
10: 58,246,026 (GRCm39) |
|
probably null |
Het |
Nbr1 |
T |
C |
11: 101,458,048 (GRCm39) |
Y276H |
possibly damaging |
Het |
Nfe2l3 |
A |
G |
6: 51,433,614 (GRCm39) |
D242G |
probably damaging |
Het |
Oacyl |
T |
A |
18: 65,871,038 (GRCm39) |
L340Q |
probably damaging |
Het |
Or4n4b |
A |
T |
14: 50,535,908 (GRCm39) |
I286N |
probably damaging |
Het |
Or5p80 |
T |
A |
7: 108,229,560 (GRCm39) |
Y120* |
probably null |
Het |
Osbpl5 |
G |
T |
7: 143,249,339 (GRCm39) |
Y543* |
probably null |
Het |
Polr1a |
G |
A |
6: 71,930,006 (GRCm39) |
E898K |
probably benign |
Het |
Pramel51 |
A |
T |
12: 88,145,053 (GRCm39) |
I91K |
probably damaging |
Het |
Rad54l2 |
G |
A |
9: 106,570,825 (GRCm39) |
A1165V |
probably benign |
Het |
Rimbp2 |
T |
G |
5: 128,896,841 (GRCm39) |
N23T |
probably benign |
Het |
Scp2 |
T |
C |
4: 107,942,408 (GRCm39) |
D306G |
probably damaging |
Het |
Slco4a1 |
A |
G |
2: 180,116,003 (GRCm39) |
D713G |
possibly damaging |
Het |
Smarca2 |
T |
A |
19: 26,698,349 (GRCm39) |
|
probably null |
Het |
Spem2 |
T |
C |
11: 69,708,251 (GRCm39) |
Y238C |
probably damaging |
Het |
Srpk2 |
T |
A |
5: 23,753,513 (GRCm39) |
H80L |
possibly damaging |
Het |
Tmem161a |
T |
C |
8: 70,634,162 (GRCm39) |
L365P |
probably damaging |
Het |
Tsnax |
T |
C |
8: 125,759,468 (GRCm39) |
L243P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,731,979 (GRCm39) |
|
probably benign |
Het |
V1rd19 |
A |
G |
7: 23,702,839 (GRCm39) |
T102A |
probably benign |
Het |
Vmn2r94 |
T |
C |
17: 18,463,940 (GRCm39) |
I783M |
probably damaging |
Het |
Zeb1 |
C |
A |
18: 5,758,985 (GRCm39) |
Q148K |
probably 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 |
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'- TTACATGAGTCATAGGGATAGGGC -3'
(R):5'- TGCCCCATTAAAGACACTGTGG -3'
Sequencing Primer
(F):5'- TCTAGCCATCTCCCAAGA -3'
(R):5'- CTGTGGTTACTAAAAAGTCCCAGCAG -3'
|
Posted On |
2015-06-20 |