Incidental Mutation 'R4687:Gsap'
| ID |
353743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsap
|
| Ensembl Gene |
ENSMUSG00000039934 |
| Gene Name |
gamma-secretase activating protein |
| Synonyms |
A530088I07Rik, Pion |
| MMRRC Submission |
041938-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R4687 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
21391253-21520130 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to C
at 21451969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036031]
[ENSMUST00000195969]
[ENSMUST00000198014]
[ENSMUST00000198071]
[ENSMUST00000198937]
|
| AlphaFold |
Q3TCV3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000036031
AA Change: V337A
|
| SMART Domains |
Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: V337A
| 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 |
unknown
Transcript: ENSMUST00000198937
AA Change: V337A
|
| SMART Domains |
Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
AA Change: V337A
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
A |
17: 9,210,985 (GRCm39) |
Y45N |
probably damaging |
Het |
| Agbl3 |
T |
C |
6: 34,775,261 (GRCm39) |
V189A |
probably damaging |
Het |
| Akip1 |
C |
A |
7: 109,304,193 (GRCm39) |
S90* |
probably null |
Het |
| Amn |
A |
T |
12: 111,242,502 (GRCm39) |
D439V |
probably benign |
Het |
| Arhgap17 |
T |
A |
7: 122,920,826 (GRCm39) |
D149V |
probably damaging |
Het |
| Atp6v0a4 |
A |
T |
6: 38,069,400 (GRCm39) |
I76N |
possibly damaging |
Het |
| Atp6v1h |
A |
T |
1: 5,203,308 (GRCm39) |
N291I |
probably damaging |
Het |
| Baiap2l2 |
G |
T |
15: 79,143,453 (GRCm39) |
P462T |
probably damaging |
Het |
| Bves |
C |
T |
10: 45,230,936 (GRCm39) |
|
probably null |
Het |
| Cabp7 |
T |
A |
11: 4,689,265 (GRCm39) |
K127* |
probably null |
Het |
| Cacna1h |
A |
G |
17: 25,612,884 (GRCm39) |
V313A |
possibly damaging |
Het |
| Camkk2 |
T |
C |
5: 122,891,787 (GRCm39) |
H245R |
probably damaging |
Het |
| Celsr1 |
T |
A |
15: 85,816,661 (GRCm39) |
S1761C |
possibly damaging |
Het |
| Cfap46 |
T |
C |
7: 139,207,372 (GRCm39) |
E1849G |
possibly damaging |
Het |
| Ciz1 |
T |
C |
2: 32,257,477 (GRCm39) |
L174P |
probably damaging |
Het |
| Crim1 |
G |
T |
17: 78,610,454 (GRCm39) |
C303F |
probably damaging |
Het |
| Cyp26c1 |
A |
G |
19: 37,681,385 (GRCm39) |
Q396R |
probably damaging |
Het |
| Dnajc7 |
G |
A |
11: 100,490,126 (GRCm39) |
P43L |
probably damaging |
Het |
| Dpf2 |
T |
C |
19: 5,957,040 (GRCm39) |
H16R |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,375,595 (GRCm39) |
T1127A |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,240,204 (GRCm39) |
L1525P |
probably damaging |
Het |
| Ehf |
T |
A |
2: 103,097,471 (GRCm39) |
D192V |
probably damaging |
Het |
| Frem1 |
G |
T |
4: 82,938,868 (GRCm39) |
N71K |
probably damaging |
Het |
| Furin |
T |
A |
7: 80,043,195 (GRCm39) |
T339S |
probably benign |
Het |
| Gad1 |
T |
A |
2: 70,431,064 (GRCm39) |
I569N |
possibly damaging |
Het |
| Gfi1 |
T |
C |
5: 107,871,676 (GRCm39) |
K10R |
probably damaging |
Het |
| Gm20775 |
T |
A |
Y: 10,641,258 (GRCm39) |
|
noncoding transcript |
Homo |
| Gpn3 |
A |
C |
5: 122,516,638 (GRCm39) |
D89A |
possibly damaging |
Het |
| Gpr18 |
T |
A |
14: 122,149,090 (GRCm39) |
R312* |
probably null |
Het |
| H2-Ab1 |
C |
A |
17: 34,483,783 (GRCm39) |
T48K |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,328,297 (GRCm39) |
N4326I |
probably benign |
Het |
| Igkv4-51 |
A |
C |
6: 69,658,714 (GRCm39) |
|
probably benign |
Het |
| Insr |
T |
C |
8: 3,211,709 (GRCm39) |
H1104R |
probably benign |
Het |
| Ipo13 |
A |
T |
4: 117,758,773 (GRCm39) |
N697K |
probably benign |
Het |
| Iqcm |
T |
G |
8: 76,489,617 (GRCm39) |
F362V |
probably damaging |
Het |
| Irak4 |
T |
C |
15: 94,464,704 (GRCm39) |
S425P |
probably damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,710,477 (GRCm39) |
E242G |
possibly damaging |
Het |
| Kdm4a |
T |
C |
4: 118,001,280 (GRCm39) |
K829R |
probably damaging |
Het |
| Kdr |
T |
C |
5: 76,129,452 (GRCm39) |
N145S |
possibly damaging |
Het |
| Klra9 |
A |
T |
6: 130,162,480 (GRCm39) |
D185E |
probably benign |
Het |
| Lcn12 |
T |
C |
2: 25,383,333 (GRCm39) |
N15S |
probably benign |
Het |
| Mei4 |
T |
A |
9: 81,809,370 (GRCm39) |
M151K |
probably damaging |
Het |
| Mmp3 |
T |
A |
9: 7,451,223 (GRCm39) |
S320T |
probably benign |
Het |
| Mrps5 |
C |
G |
2: 127,432,690 (GRCm39) |
A37G |
probably benign |
Het |
| Mttp |
A |
G |
3: 137,798,496 (GRCm39) |
I800T |
possibly damaging |
Het |
| Nags |
A |
T |
11: 102,039,022 (GRCm39) |
Q451L |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,965,486 (GRCm39) |
T476A |
probably damaging |
Het |
| Ndufb10 |
T |
C |
17: 24,941,393 (GRCm39) |
E145G |
possibly damaging |
Het |
| Neb |
T |
G |
2: 52,194,047 (GRCm39) |
S660R |
possibly damaging |
Het |
| Nppb |
A |
G |
4: 148,070,753 (GRCm39) |
K43E |
probably benign |
Het |
| Nup188 |
A |
T |
2: 30,220,645 (GRCm39) |
Q906L |
probably benign |
Het |
| Or10k2 |
T |
A |
8: 84,268,489 (GRCm39) |
S239T |
probably damaging |
Het |
| Or4c12 |
T |
C |
2: 89,774,213 (GRCm39) |
D82G |
probably damaging |
Het |
| Or8c17 |
C |
A |
9: 38,180,710 (GRCm39) |
N292K |
probably damaging |
Het |
| Or9s23 |
T |
C |
1: 92,501,052 (GRCm39) |
I53T |
possibly damaging |
Het |
| Ovch2 |
T |
A |
7: 107,395,755 (GRCm39) |
I88F |
possibly damaging |
Het |
| Palm3 |
A |
G |
8: 84,756,564 (GRCm39) |
E692G |
probably benign |
Het |
| Pcsk6 |
T |
C |
7: 65,633,501 (GRCm39) |
F578L |
probably damaging |
Het |
| Piezo2 |
A |
C |
18: 63,203,034 (GRCm39) |
D1535E |
probably damaging |
Het |
| Ppp1r15b |
T |
C |
1: 133,059,873 (GRCm39) |
V130A |
probably benign |
Het |
| Proca1 |
T |
C |
11: 78,095,724 (GRCm39) |
Y32H |
probably damaging |
Het |
| Prtg |
T |
A |
9: 72,798,080 (GRCm39) |
V682E |
probably damaging |
Het |
| Pyroxd1 |
A |
T |
6: 142,307,594 (GRCm39) |
M455L |
probably benign |
Het |
| Rasa1 |
T |
C |
13: 85,374,754 (GRCm39) |
D739G |
possibly damaging |
Het |
| Scn3a |
T |
C |
2: 65,295,074 (GRCm39) |
I1550V |
possibly damaging |
Het |
| Sepsecs |
T |
C |
5: 52,801,213 (GRCm39) |
D483G |
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,457,776 (GRCm39) |
D17G |
probably damaging |
Het |
| Sipa1l2 |
C |
T |
8: 126,217,984 (GRCm39) |
C451Y |
probably damaging |
Het |
| Slc31a1 |
A |
G |
4: 62,306,939 (GRCm39) |
Y165C |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,249,776 (GRCm39) |
F68L |
possibly damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,907,689 (GRCm39) |
|
probably benign |
Het |
| Stk3 |
A |
G |
15: 35,114,711 (GRCm39) |
I65T |
probably damaging |
Het |
| Tas2r115 |
C |
T |
6: 132,714,247 (GRCm39) |
A235T |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,939,924 (GRCm39) |
A1400T |
probably benign |
Het |
| Tet1 |
T |
A |
10: 62,674,570 (GRCm39) |
N1169Y |
probably benign |
Het |
| Treml2 |
T |
A |
17: 48,616,425 (GRCm39) |
|
probably null |
Het |
| Tspan11 |
A |
G |
6: 127,915,198 (GRCm39) |
E104G |
probably damaging |
Het |
| Wdtc1 |
G |
A |
4: 133,023,742 (GRCm39) |
A543V |
probably damaging |
Het |
| Zfp148 |
T |
A |
16: 33,317,189 (GRCm39) |
D578E |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,602,682 (GRCm39) |
N542I |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,602,681 (GRCm39) |
N542Y |
probably damaging |
Het |
| Zfp869 |
T |
A |
8: 70,160,793 (GRCm39) |
E65D |
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 |
|
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'- GCACTTGCCCTATCTGTGAGAC -3'
(R):5'- CCCTAGATTTAAAAGGGTCATTGACTG -3'
Sequencing Primer
(F):5'- CTGTGAGACTGTTATAAACCATGAGG -3'
(R):5'- AAGGGTCATTGACTGTTACAAGTTG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation