Incidental Mutation 'R5650:Gsap'
| ID |
441357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsap
|
| Ensembl Gene |
ENSMUSG00000039934 |
| Gene Name |
gamma-secretase activating protein |
| Synonyms |
A530088I07Rik, Pion |
| MMRRC Submission |
043296-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R5650 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
21391253-21520130 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21456051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 385
(Y385C)
|
| 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: Y416C
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: Y416C
| 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: ENSMUST00000196035
|
| 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: Y385C
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
AA Change: Y385C
| 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: 99.5%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
C |
6: 85,597,253 (GRCm39) |
L693P |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,614,136 (GRCm39) |
T2524A |
probably damaging |
Het |
| Cdr2 |
A |
G |
7: 120,557,559 (GRCm39) |
I322T |
probably damaging |
Het |
| Cep76 |
A |
T |
18: 67,758,136 (GRCm39) |
C385S |
probably damaging |
Het |
| Cercam |
C |
T |
2: 29,771,827 (GRCm39) |
S549F |
probably damaging |
Het |
| Coro1b |
C |
T |
19: 4,200,610 (GRCm39) |
T209I |
possibly damaging |
Het |
| Dlec1 |
G |
T |
9: 118,972,662 (GRCm39) |
E1462* |
probably null |
Het |
| Dlgap5 |
C |
T |
14: 47,649,196 (GRCm39) |
G166D |
probably benign |
Het |
| Ep400 |
C |
T |
5: 110,843,818 (GRCm39) |
|
probably null |
Het |
| Fam3d |
A |
T |
14: 8,357,142 (GRCm38) |
V96E |
probably damaging |
Het |
| Fgr |
T |
G |
4: 132,727,533 (GRCm39) |
V478G |
probably benign |
Het |
| Fmo9 |
T |
A |
1: 166,491,015 (GRCm39) |
I437F |
probably damaging |
Het |
| Gabrd |
A |
T |
4: 155,473,081 (GRCm39) |
V64E |
probably damaging |
Het |
| H4c4 |
A |
T |
13: 23,765,778 (GRCm39) |
N65I |
possibly damaging |
Het |
| Hat1 |
T |
C |
2: 71,264,378 (GRCm39) |
V272A |
probably benign |
Het |
| Helz |
T |
A |
11: 107,485,972 (GRCm39) |
M127K |
probably null |
Het |
| Hsp90b1 |
G |
A |
10: 86,529,367 (GRCm39) |
A310V |
probably damaging |
Het |
| Hspa4 |
T |
C |
11: 53,155,919 (GRCm39) |
Y662C |
probably damaging |
Het |
| Kif7 |
C |
T |
7: 79,360,727 (GRCm39) |
R216H |
probably damaging |
Het |
| Klhl33 |
A |
G |
14: 51,129,285 (GRCm39) |
I648T |
probably benign |
Het |
| Knl1 |
T |
A |
2: 118,912,031 (GRCm39) |
L1716* |
probably null |
Het |
| Lgals9 |
T |
A |
11: 78,863,980 (GRCm39) |
N55I |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,136,110 (GRCm39) |
T606S |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,667,467 (GRCm39) |
|
probably null |
Het |
| Mip |
A |
T |
10: 128,061,934 (GRCm39) |
I62F |
possibly damaging |
Het |
| Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
| Npepl1 |
T |
C |
2: 173,963,329 (GRCm39) |
F454L |
possibly damaging |
Het |
| Or10h28 |
A |
T |
17: 33,487,858 (GRCm39) |
E53D |
probably benign |
Het |
| Or1j21 |
T |
A |
2: 36,683,277 (GRCm39) |
S10T |
probably benign |
Het |
| Or5ae1 |
T |
A |
7: 84,565,626 (GRCm39) |
I213N |
possibly damaging |
Het |
| Or8b1b |
A |
T |
9: 38,376,023 (GRCm39) |
K229* |
probably null |
Het |
| Oxct1 |
T |
A |
15: 4,172,332 (GRCm39) |
V466D |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,144,792 (GRCm39) |
I2768F |
probably damaging |
Het |
| Pitpnm1 |
C |
A |
19: 4,153,319 (GRCm39) |
D158E |
possibly damaging |
Het |
| Plekho2 |
T |
C |
9: 65,464,018 (GRCm39) |
N277S |
probably benign |
Het |
| Rab33b |
T |
C |
3: 51,400,837 (GRCm39) |
Y104H |
probably damaging |
Het |
| Rpap1 |
T |
C |
2: 119,604,331 (GRCm39) |
S473G |
probably benign |
Het |
| Serpina1b |
T |
A |
12: 103,694,694 (GRCm39) |
|
probably null |
Het |
| Slc25a17 |
A |
T |
15: 81,213,377 (GRCm39) |
|
probably null |
Het |
| Slc43a2 |
T |
C |
11: 75,436,633 (GRCm39) |
C160R |
probably damaging |
Het |
| Slc7a4 |
G |
T |
16: 17,393,548 (GRCm39) |
L84M |
possibly damaging |
Het |
| Slco1a4 |
T |
A |
6: 141,755,120 (GRCm39) |
I561F |
possibly damaging |
Het |
| Sowahc |
GGGAGGAGGAGGAGGAGGAGGAGGAGGA |
GGGAGGAGGAGGAGGAGGAGGAGGA |
10: 59,059,313 (GRCm39) |
|
probably benign |
Het |
| Specc1 |
T |
C |
11: 62,008,793 (GRCm39) |
I183T |
probably damaging |
Het |
| Sucla2 |
A |
G |
14: 73,828,569 (GRCm39) |
K362E |
probably benign |
Het |
| Tcf12 |
A |
T |
9: 71,792,584 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
C |
T |
14: 50,598,658 (GRCm39) |
P215S |
probably benign |
Het |
| Tmem41b |
A |
G |
7: 109,574,072 (GRCm39) |
S198P |
probably damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,698,670 (GRCm39) |
F427S |
probably damaging |
Het |
| Wdr81 |
T |
A |
11: 75,335,574 (GRCm39) |
S1752C |
probably damaging |
Het |
| Zbtb7a |
A |
G |
10: 80,980,883 (GRCm39) |
Y359C |
probably damaging |
Het |
| Zfp37 |
T |
C |
4: 62,110,002 (GRCm39) |
Y354C |
probably damaging |
Het |
| Zmpste24 |
T |
A |
4: 120,940,074 (GRCm39) |
I191F |
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 |
|
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'- CTCTGACTGAGGTGAGGTCTTC -3'
(R):5'- CCGAGGAAGACTATGCTCAAGC -3'
Sequencing Primer
(F):5'- AGGTCTTCTATTTGGTGATCTGCTC -3'
(R):5'- CTTCTGATCGTCTCAAAGCACTAAG -3'
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| Posted On |
2016-11-08 |
Incidental Mutation