Incidental Mutation 'R6148:Gsap'
ID |
489007 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gsap
|
Ensembl Gene |
ENSMUSG00000039934 |
Gene Name |
gamma-secretase activating protein |
Synonyms |
A530088I07Rik, Pion |
MMRRC Submission |
044295-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R6148 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
21391253-21520130 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21431323 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 216
(R216G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142986
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036031]
[ENSMUST00000195969]
[ENSMUST00000198014]
[ENSMUST00000198071]
[ENSMUST00000198937]
|
AlphaFold |
Q3TCV3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036031
AA Change: R216G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043679 Gene: ENSMUSG00000039934 AA Change: R216G
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 damaging
Transcript: ENSMUST00000198937
AA Change: R216G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142986 Gene: ENSMUSG00000039934 AA Change: R216G
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 |
0.5728 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
95% (61/64) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,234,200 (GRCm39) |
C1067S |
possibly damaging |
Het |
AAdacl4fm3 |
T |
C |
4: 144,447,887 (GRCm39) |
T30A |
possibly damaging |
Het |
Agbl3 |
T |
A |
6: 34,834,688 (GRCm39) |
S952R |
possibly damaging |
Het |
Ano9 |
A |
G |
7: 140,686,698 (GRCm39) |
Y429H |
probably damaging |
Het |
Bbs7 |
C |
A |
3: 36,667,415 (GRCm39) |
R7L |
probably damaging |
Het |
Birc2 |
T |
A |
9: 7,849,684 (GRCm39) |
D535V |
possibly damaging |
Het |
Catsper4 |
A |
G |
4: 133,945,240 (GRCm39) |
V206A |
probably damaging |
Het |
Ccdc73 |
T |
G |
2: 104,822,482 (GRCm39) |
S810R |
possibly damaging |
Het |
Cd177 |
A |
T |
7: 24,443,698 (GRCm39) |
L800* |
probably null |
Het |
Cd34 |
T |
C |
1: 194,630,316 (GRCm39) |
|
probably null |
Het |
Cep78 |
G |
A |
19: 15,959,150 (GRCm39) |
R95* |
probably null |
Het |
Cfap69 |
T |
C |
5: 5,713,996 (GRCm39) |
D12G |
probably benign |
Het |
Cpne7 |
A |
G |
8: 123,854,171 (GRCm39) |
D286G |
probably benign |
Het |
Cwc22 |
ATCTCTCTCTCTCTCTCT |
ATCTCTCTCTCTCTCT |
2: 77,759,803 (GRCm39) |
|
probably null |
Het |
Cxcl5 |
A |
T |
5: 90,907,565 (GRCm39) |
I46L |
probably benign |
Het |
Cyp19a1 |
C |
T |
9: 54,087,540 (GRCm39) |
G59D |
probably damaging |
Het |
Dclre1c |
A |
G |
2: 3,438,742 (GRCm39) |
D35G |
probably damaging |
Het |
Defa41 |
A |
G |
8: 21,692,428 (GRCm39) |
N83S |
probably benign |
Het |
Dvl1 |
A |
G |
4: 155,939,409 (GRCm39) |
Y279C |
probably damaging |
Het |
Fes |
A |
G |
7: 80,030,044 (GRCm39) |
L578P |
probably damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Fmn2 |
T |
C |
1: 174,494,229 (GRCm39) |
S1248P |
probably damaging |
Het |
Fmo1 |
T |
G |
1: 162,679,088 (GRCm39) |
S53R |
probably damaging |
Het |
Gabrg1 |
A |
T |
5: 70,931,804 (GRCm39) |
M313K |
probably damaging |
Het |
Galnt10 |
T |
C |
11: 57,675,474 (GRCm39) |
C578R |
probably damaging |
Het |
Gpr39 |
T |
C |
1: 125,800,323 (GRCm39) |
V358A |
probably damaging |
Het |
Gucy2d |
A |
T |
7: 98,093,030 (GRCm39) |
I136L |
probably benign |
Het |
Hap1 |
A |
T |
11: 100,240,218 (GRCm39) |
V294E |
probably damaging |
Het |
Ipo8 |
A |
G |
6: 148,701,278 (GRCm39) |
V514A |
probably damaging |
Het |
Irf5 |
T |
C |
6: 29,535,958 (GRCm39) |
L324P |
probably damaging |
Het |
Itsn1 |
C |
T |
16: 91,613,740 (GRCm39) |
R251C |
probably damaging |
Het |
Klf11 |
T |
C |
12: 24,701,567 (GRCm39) |
|
probably null |
Het |
Kpna6 |
G |
A |
4: 129,543,099 (GRCm39) |
Q439* |
probably null |
Het |
Mark4 |
A |
T |
7: 19,163,441 (GRCm39) |
S563T |
probably benign |
Het |
Mrpl21 |
A |
T |
19: 3,333,084 (GRCm39) |
I5L |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
Myrf |
G |
A |
19: 10,189,839 (GRCm39) |
T815I |
probably damaging |
Het |
Olfr515-ps1 |
A |
T |
7: 108,444,178 (GRCm39) |
|
probably null |
Het |
Or10d4c |
G |
T |
9: 39,558,555 (GRCm39) |
D178Y |
probably damaging |
Het |
Or11g27 |
A |
G |
14: 50,771,778 (GRCm39) |
N303S |
probably benign |
Het |
Or4c15 |
C |
T |
2: 88,760,597 (GRCm39) |
V21I |
probably benign |
Het |
Or52n3 |
A |
G |
7: 104,530,289 (GRCm39) |
Y125C |
possibly damaging |
Het |
Os9 |
T |
C |
10: 126,935,812 (GRCm39) |
D280G |
probably benign |
Het |
Pcdhb14 |
A |
G |
18: 37,582,283 (GRCm39) |
N463S |
probably damaging |
Het |
Pex19 |
G |
A |
1: 171,961,606 (GRCm39) |
E271K |
probably damaging |
Het |
Ppdpf |
G |
A |
2: 180,829,641 (GRCm39) |
S32N |
probably benign |
Het |
Prdm2 |
A |
G |
4: 142,859,477 (GRCm39) |
I1271T |
probably benign |
Het |
Rbbp4 |
T |
C |
4: 129,215,751 (GRCm39) |
T262A |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Spaca9 |
G |
A |
2: 28,583,793 (GRCm39) |
R64W |
probably damaging |
Het |
Sult1e1 |
A |
T |
5: 87,727,770 (GRCm39) |
S171T |
probably damaging |
Het |
Tns1 |
T |
C |
1: 73,992,612 (GRCm39) |
T689A |
probably damaging |
Het |
Unc13c |
G |
C |
9: 73,600,648 (GRCm39) |
N1365K |
probably benign |
Het |
Vmn2r52 |
T |
C |
7: 9,905,090 (GRCm39) |
I250V |
probably benign |
Het |
Vmn2r55 |
C |
A |
7: 12,402,069 (GRCm39) |
L406F |
probably benign |
Het |
Wdcp |
T |
C |
12: 4,900,621 (GRCm39) |
V159A |
possibly damaging |
Het |
Zbtb3 |
C |
T |
19: 8,781,560 (GRCm39) |
A391V |
probably benign |
Het |
Znhit1 |
A |
T |
5: 137,011,487 (GRCm39) |
S109T |
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 |
|
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 |
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'- AGTGGTATTTACATGAGTCATAGGG -3'
(R):5'- TGCCCCATTAAAGACACTGTGG -3'
Sequencing Primer
(F):5'- TTTACATGAGTCATAGGGATAGGGC -3'
(R):5'- GTAACTCTAGTTCCCAGGGATCTAAC -3'
|
Posted On |
2017-10-10 |