Incidental Mutation 'R5015:Gsap'
ID |
385488 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gsap
|
Ensembl Gene |
ENSMUSG00000039934 |
Gene Name |
gamma-secretase activating protein |
Synonyms |
A530088I07Rik, Pion |
MMRRC Submission |
042606-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
R5015 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
21391253-21520130 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21427406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 178
(I178T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043679
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036031]
[ENSMUST00000195969]
[ENSMUST00000198014]
[ENSMUST00000198071]
[ENSMUST00000198937]
|
AlphaFold |
Q3TCV3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036031
AA Change: I178T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000043679 Gene: ENSMUSG00000039934 AA Change: I178T
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 |
possibly damaging
Transcript: ENSMUST00000198014
AA Change: I178T
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198071
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198937
AA Change: I178T
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000142986 Gene: ENSMUSG00000039934 AA Change: I178T
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: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 91.3%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
T |
A |
8: 41,207,671 (GRCm39) |
F312L |
probably benign |
Het |
Adprm |
A |
G |
11: 66,932,856 (GRCm39) |
F18L |
possibly damaging |
Het |
Ampd1 |
T |
G |
3: 103,006,981 (GRCm39) |
N735K |
possibly damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atp1a4 |
T |
C |
1: 172,081,649 (GRCm39) |
M168V |
probably damaging |
Het |
Bcl6 |
G |
A |
16: 23,793,600 (GRCm39) |
H116Y |
probably damaging |
Het |
Bmpr2 |
T |
A |
1: 59,890,383 (GRCm39) |
N338K |
probably damaging |
Het |
Bms1 |
A |
T |
6: 118,381,224 (GRCm39) |
Y697* |
probably null |
Het |
Ccdc33 |
A |
C |
9: 58,025,918 (GRCm39) |
F37C |
probably damaging |
Het |
Ccdc60 |
T |
A |
5: 116,426,507 (GRCm39) |
Q30L |
probably benign |
Het |
Cndp1 |
C |
A |
18: 84,650,036 (GRCm39) |
R219L |
probably damaging |
Het |
Cstdc4 |
T |
C |
16: 36,006,837 (GRCm39) |
|
probably null |
Het |
Daam2 |
C |
A |
17: 49,783,550 (GRCm39) |
D627Y |
probably damaging |
Het |
Dffb |
T |
C |
4: 154,057,416 (GRCm39) |
D87G |
possibly damaging |
Het |
Dnah2 |
T |
G |
11: 69,388,708 (GRCm39) |
T892P |
possibly damaging |
Het |
Dqx1 |
A |
G |
6: 83,043,092 (GRCm39) |
T610A |
probably benign |
Het |
Dspp |
A |
T |
5: 104,324,926 (GRCm39) |
I430L |
possibly damaging |
Het |
Dytn |
T |
A |
1: 63,672,854 (GRCm39) |
K516N |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fmnl2 |
T |
A |
2: 52,993,773 (GRCm39) |
N389K |
possibly damaging |
Het |
Fn1 |
G |
A |
1: 71,665,336 (GRCm39) |
T927I |
probably damaging |
Het |
Foxn1 |
T |
C |
11: 78,261,989 (GRCm39) |
K127E |
probably damaging |
Het |
Fpr-rs6 |
A |
G |
17: 20,402,608 (GRCm39) |
F251S |
probably damaging |
Het |
Frrs1 |
A |
G |
3: 116,672,088 (GRCm39) |
D62G |
probably damaging |
Het |
Fut10 |
T |
A |
8: 31,726,148 (GRCm39) |
V301D |
probably damaging |
Het |
Gk5 |
A |
G |
9: 96,059,470 (GRCm39) |
|
probably null |
Het |
Glipr1l1 |
T |
A |
10: 111,914,279 (GRCm39) |
N213K |
probably benign |
Het |
Gm1110 |
A |
G |
9: 26,793,162 (GRCm39) |
F538S |
probably benign |
Het |
Gm7347 |
T |
A |
5: 26,262,366 (GRCm39) |
T52S |
probably benign |
Het |
H1f9 |
C |
A |
11: 94,858,928 (GRCm39) |
N74K |
probably damaging |
Het |
Hcn1 |
A |
T |
13: 117,739,556 (GRCm39) |
Q106L |
unknown |
Het |
Isg20l2 |
G |
T |
3: 87,839,288 (GRCm39) |
L166F |
possibly damaging |
Het |
Kcnq3 |
T |
A |
15: 65,876,612 (GRCm39) |
E510D |
probably damaging |
Het |
Kif26b |
G |
T |
1: 178,755,895 (GRCm39) |
R2003L |
probably damaging |
Het |
Kiss1r |
T |
C |
10: 79,754,641 (GRCm39) |
V45A |
probably damaging |
Het |
Krt14 |
G |
A |
11: 100,098,032 (GRCm39) |
R84* |
probably null |
Het |
Mbd5 |
T |
C |
2: 49,148,208 (GRCm39) |
M806T |
possibly damaging |
Het |
Mdga1 |
A |
T |
17: 30,058,847 (GRCm39) |
I13N |
possibly damaging |
Het |
Mfsd4b5 |
T |
C |
10: 39,850,758 (GRCm39) |
K73E |
probably benign |
Het |
Mterf2 |
C |
T |
10: 84,955,596 (GRCm39) |
G343R |
probably benign |
Het |
Mto1 |
T |
A |
9: 78,368,903 (GRCm39) |
F522I |
probably benign |
Het |
Myo18b |
T |
C |
5: 112,937,923 (GRCm39) |
E1734G |
probably damaging |
Het |
Myoz1 |
T |
C |
14: 20,703,787 (GRCm39) |
T53A |
probably benign |
Het |
Naxd |
T |
C |
8: 11,563,032 (GRCm39) |
L324P |
probably damaging |
Het |
Nos1 |
T |
A |
5: 118,005,334 (GRCm39) |
V18D |
probably damaging |
Het |
Nova1 |
T |
C |
12: 46,863,738 (GRCm39) |
T71A |
unknown |
Het |
Or10v5 |
T |
C |
19: 11,805,482 (GRCm39) |
R303G |
probably benign |
Het |
Or10z1 |
A |
G |
1: 174,078,448 (GRCm39) |
L15S |
possibly damaging |
Het |
Or1e29 |
C |
G |
11: 73,668,007 (GRCm39) |
V49L |
probably benign |
Het |
Or2j6 |
T |
C |
7: 139,980,083 (GRCm39) |
D292G |
probably damaging |
Het |
Or52b1 |
A |
G |
7: 104,978,811 (GRCm39) |
V196A |
possibly damaging |
Het |
Otof |
T |
A |
5: 30,540,238 (GRCm39) |
Y981F |
probably damaging |
Het |
Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Pex1 |
A |
G |
5: 3,670,597 (GRCm39) |
K7E |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,120,946 (GRCm39) |
S73P |
possibly damaging |
Het |
Plxnb1 |
T |
A |
9: 108,929,498 (GRCm39) |
I118N |
possibly damaging |
Het |
Prcc |
T |
C |
3: 87,779,560 (GRCm39) |
D158G |
probably damaging |
Het |
Ptpn7 |
C |
A |
1: 135,066,877 (GRCm39) |
R245S |
possibly damaging |
Het |
Ptpre |
C |
T |
7: 135,270,861 (GRCm39) |
H346Y |
probably benign |
Het |
Pwp2 |
A |
G |
10: 78,018,527 (GRCm39) |
C86R |
probably benign |
Het |
Rfng |
T |
G |
11: 120,673,876 (GRCm39) |
D178A |
probably damaging |
Het |
Rhpn1 |
T |
C |
15: 75,580,090 (GRCm39) |
I51T |
probably damaging |
Het |
Rnasel |
G |
T |
1: 153,629,843 (GRCm39) |
E120* |
probably null |
Het |
Sall2 |
T |
G |
14: 52,553,112 (GRCm39) |
S26R |
possibly damaging |
Het |
Scn10a |
A |
G |
9: 119,451,987 (GRCm39) |
V1312A |
possibly damaging |
Het |
Sdk2 |
C |
A |
11: 113,684,587 (GRCm39) |
R1958L |
probably damaging |
Het |
Septin4 |
C |
T |
11: 87,458,043 (GRCm39) |
S139F |
possibly damaging |
Het |
Slc52a2 |
T |
A |
15: 76,424,751 (GRCm39) |
C330S |
probably damaging |
Het |
Smarca2 |
T |
A |
19: 26,668,788 (GRCm39) |
I987N |
possibly damaging |
Het |
Srrt |
A |
T |
5: 137,294,271 (GRCm39) |
Y486N |
probably damaging |
Het |
Stat5b |
A |
T |
11: 100,695,831 (GRCm39) |
N50K |
possibly damaging |
Het |
Strip2 |
T |
A |
6: 29,931,265 (GRCm39) |
D405E |
probably benign |
Het |
Tcstv6 |
T |
A |
13: 120,298,474 (GRCm39) |
|
probably null |
Het |
Tnc |
A |
T |
4: 63,924,739 (GRCm39) |
D986E |
probably damaging |
Het |
Tph2 |
T |
C |
10: 114,915,621 (GRCm39) |
N473S |
probably benign |
Het |
Tpp1 |
C |
T |
7: 105,401,232 (GRCm39) |
|
probably benign |
Het |
Trpm3 |
T |
C |
19: 22,689,076 (GRCm39) |
Y2H |
probably damaging |
Het |
Ttc21a |
A |
T |
9: 119,795,195 (GRCm39) |
E1072V |
probably damaging |
Het |
Zfat |
T |
C |
15: 68,050,762 (GRCm39) |
D753G |
probably damaging |
Het |
Zmym2 |
T |
A |
14: 57,159,051 (GRCm39) |
S609T |
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 |
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 |
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'- AATGTGCATCTTGAGGCTGTC -3'
(R):5'- GGCTGCTAATTTCTCCATGC -3'
Sequencing Primer
(F):5'- ATCTTGAGGCTGTCCGCAG -3'
(R):5'- AATTTCTCCATGCATCTTTCTTTTGG -3'
|
Posted On |
2016-05-10 |