Incidental Mutation 'R8355:Gsap'
| ID |
660268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsap
|
| Ensembl Gene |
ENSMUSG00000039934 |
| Gene Name |
gamma-secretase activating protein |
| Synonyms |
A530088I07Rik, Pion |
| MMRRC Submission |
067869-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R8355 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21391253-21520130 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 21456017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 374
(G374*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036031]
[ENSMUST00000195969]
[ENSMUST00000198014]
[ENSMUST00000198071]
[ENSMUST00000198937]
|
| AlphaFold |
Q3TCV3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036031
AA Change: G405*
|
| SMART Domains |
Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: G405*
| 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: ENSMUST00000198071
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000198937
AA Change: G374*
|
| SMART Domains |
Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
AA Change: G374*
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (48/49) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
T |
6: 142,638,478 (GRCm39) |
H145Q |
probably benign |
Het |
| Acsf2 |
A |
T |
11: 94,461,450 (GRCm39) |
M293K |
probably benign |
Het |
| Ak9 |
G |
A |
10: 41,275,700 (GRCm39) |
R1112Q |
|
Het |
| Ano8 |
T |
C |
8: 71,933,210 (GRCm39) |
|
probably benign |
Het |
| Ap3b2 |
A |
T |
7: 81,122,851 (GRCm39) |
V462E |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,448,174 (GRCm39) |
Q498R |
unknown |
Het |
| AW011738 |
C |
A |
4: 156,287,837 (GRCm39) |
|
probably benign |
Het |
| Bhlhe41 |
T |
A |
6: 145,811,028 (GRCm39) |
|
probably null |
Het |
| Bnc1 |
A |
C |
7: 81,618,624 (GRCm39) |
S814A |
probably damaging |
Het |
| Bnip5 |
T |
A |
17: 29,122,249 (GRCm39) |
Q414L |
probably damaging |
Het |
| Cage1 |
A |
T |
13: 38,203,225 (GRCm39) |
L613H |
probably damaging |
Het |
| Camk1g |
T |
C |
1: 193,033,355 (GRCm39) |
I231V |
probably damaging |
Het |
| Catspere2 |
T |
C |
1: 177,845,276 (GRCm39) |
Y99H |
possibly damaging |
Het |
| Ccdc50 |
A |
G |
16: 27,236,101 (GRCm39) |
Y145C |
probably benign |
Het |
| Cdcp1 |
A |
G |
9: 123,002,888 (GRCm39) |
S728P |
probably benign |
Het |
| Chrm3 |
A |
T |
13: 9,928,646 (GRCm39) |
M130K |
probably damaging |
Het |
| Csf1r |
T |
C |
18: 61,261,222 (GRCm39) |
F766S |
probably damaging |
Het |
| Dact3 |
A |
G |
7: 16,617,125 (GRCm39) |
D108G |
probably damaging |
Het |
| Dnaaf5 |
ACCCAGCACCTGGAGATCGTCC |
ACC |
5: 139,147,614 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
C |
17: 30,914,152 (GRCm39) |
L1099F |
possibly damaging |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| Gk5 |
T |
C |
9: 96,032,839 (GRCm39) |
V274A |
possibly damaging |
Het |
| Gnpat |
T |
C |
8: 125,597,579 (GRCm39) |
F47S |
probably benign |
Het |
| Gtf2h2 |
A |
T |
13: 100,605,503 (GRCm39) |
F368Y |
possibly damaging |
Het |
| Gvin1 |
A |
T |
7: 105,757,312 (GRCm39) |
W2386R |
possibly damaging |
Het |
| Ighe |
A |
T |
12: 113,235,167 (GRCm39) |
L331* |
probably null |
Het |
| Iqank1 |
C |
A |
15: 75,906,073 (GRCm39) |
Q87K |
probably benign |
Het |
| Itch |
T |
A |
2: 155,052,502 (GRCm39) |
|
probably null |
Het |
| Lars2 |
G |
A |
9: 123,283,780 (GRCm39) |
A683T |
probably damaging |
Het |
| Lin7a |
C |
T |
10: 107,218,497 (GRCm39) |
R14C |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,346,828 (GRCm39) |
S806N |
probably damaging |
Het |
| Lrrc8e |
T |
A |
8: 4,284,018 (GRCm39) |
M81K |
probably benign |
Het |
| Mcm3ap |
C |
A |
10: 76,329,335 (GRCm39) |
T1172K |
probably benign |
Het |
| Mrm3 |
A |
T |
11: 76,141,164 (GRCm39) |
M391L |
possibly damaging |
Het |
| Myo9a |
T |
C |
9: 59,817,130 (GRCm39) |
S2278P |
probably damaging |
Het |
| Ncln |
T |
C |
10: 81,323,703 (GRCm39) |
K511E |
probably damaging |
Het |
| Or2y17 |
G |
T |
11: 49,231,592 (GRCm39) |
V78L |
possibly damaging |
Het |
| Or8b101 |
A |
G |
9: 38,020,258 (GRCm39) |
K87R |
probably benign |
Het |
| Pcdhb10 |
G |
T |
18: 37,545,134 (GRCm39) |
G70V |
probably damaging |
Het |
| Phf24 |
A |
G |
4: 42,933,735 (GRCm39) |
E39G |
probably benign |
Het |
| Plat |
C |
A |
8: 23,261,758 (GRCm39) |
S52* |
probably null |
Het |
| Pramel52-ps |
T |
C |
5: 94,531,772 (GRCm39) |
C219R |
probably damaging |
Het |
| Ptpru |
C |
A |
4: 131,535,811 (GRCm39) |
G389C |
probably damaging |
Het |
| Rnpep |
T |
C |
1: 135,195,005 (GRCm39) |
D407G |
probably damaging |
Het |
| Rttn |
G |
A |
18: 89,047,016 (GRCm39) |
V893I |
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,634,473 (GRCm39) |
L428P |
probably damaging |
Het |
| Tet1 |
T |
A |
10: 62,652,229 (GRCm39) |
L1596F |
possibly damaging |
Het |
| Thsd7b |
T |
C |
1: 129,523,616 (GRCm39) |
C140R |
probably damaging |
Het |
| Usp17le |
A |
T |
7: 104,418,752 (GRCm39) |
M130K |
possibly damaging |
Het |
| Vmn2r92 |
T |
G |
17: 18,405,061 (GRCm39) |
I735S |
probably damaging |
Het |
| Zbtb42 |
A |
T |
12: 112,645,969 (GRCm39) |
Y48F |
probably damaging |
Het |
| Zbtb43 |
C |
T |
2: 33,345,120 (GRCm39) |
G35D |
possibly damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,109,876 (GRCm39) |
C189S |
unknown |
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 |
|
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'- GGTCTGCCACAGTCTGTTTC -3'
(R):5'- AAGTGCACTTAGTGTCGCCTG -3'
Sequencing Primer
(F):5'- AAGGTTGTAGCTTATGTCTCCAGGAC -3'
(R):5'- GCTGCCCGTTTTTAAGCTCCAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation