Incidental Mutation 'R7332:Gsap'
| ID |
569287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsap
|
| Ensembl Gene |
ENSMUSG00000039934 |
| Gene Name |
gamma-secretase activating protein |
| Synonyms |
A530088I07Rik, Pion |
| MMRRC Submission |
045425-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R7332 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21391253-21520130 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21495119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 821
(M821K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036031]
[ENSMUST00000115245]
[ENSMUST00000195969]
[ENSMUST00000198014]
[ENSMUST00000198930]
[ENSMUST00000198937]
|
| AlphaFold |
Q3TCV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036031
AA Change: M821K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: M821K
| 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: ENSMUST00000115245
|
| SMART Domains |
Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
130 |
N/A |
INTRINSIC |
|
coiled coil region
|
194 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
438 |
477 |
N/A |
INTRINSIC |
|
coiled coil region
|
549 |
595 |
N/A |
INTRINSIC |
|
coiled coil region
|
617 |
663 |
N/A |
INTRINSIC |
|
coiled coil region
|
690 |
720 |
N/A |
INTRINSIC |
|
coiled coil region
|
770 |
793 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195969
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198014
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198930
AA Change: M60K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198937
|
| SMART Domains |
Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (68/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l2 |
A |
G |
19: 56,906,553 (GRCm39) |
S449P |
probably damaging |
Het |
| Atp6v0c |
A |
C |
17: 24,388,198 (GRCm39) |
S21A |
probably benign |
Het |
| Cacna1e |
T |
C |
1: 154,601,547 (GRCm39) |
Y40C |
possibly damaging |
Het |
| Cdadc1 |
A |
G |
14: 59,813,213 (GRCm39) |
I398T |
possibly damaging |
Het |
| Cfap44 |
T |
A |
16: 44,250,191 (GRCm39) |
D756E |
probably damaging |
Het |
| Clcnkb |
A |
T |
4: 141,141,243 (GRCm39) |
L104Q |
probably null |
Het |
| Clk1 |
G |
A |
1: 58,451,853 (GRCm39) |
H421Y |
probably benign |
Het |
| Cmpk2 |
A |
T |
12: 26,528,061 (GRCm39) |
D426V |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,229,061 (GRCm39) |
L2009S |
possibly damaging |
Het |
| Col5a2 |
C |
G |
1: 45,419,325 (GRCm39) |
D1252H |
probably damaging |
Het |
| Coro1b |
A |
G |
19: 4,199,356 (GRCm39) |
K5R |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,313,360 (GRCm39) |
T1346A |
|
Het |
| Csrp1 |
G |
T |
1: 135,667,149 (GRCm39) |
W4L |
probably benign |
Het |
| Cyp3a25 |
A |
G |
5: 145,929,817 (GRCm39) |
I184T |
probably damaging |
Het |
| Egfl7 |
C |
A |
2: 26,480,725 (GRCm39) |
R128S |
probably benign |
Het |
| Fggy |
A |
T |
4: 95,511,719 (GRCm39) |
N157I |
probably damaging |
Het |
| Gldc |
A |
T |
19: 30,093,926 (GRCm39) |
L697Q |
probably damaging |
Het |
| Gm4952 |
T |
A |
19: 12,604,373 (GRCm39) |
Y262N |
probably damaging |
Het |
| Hps1 |
T |
C |
19: 42,766,351 (GRCm39) |
|
probably null |
Het |
| Hsbp1l1 |
T |
C |
18: 80,280,038 (GRCm39) |
|
probably benign |
Het |
| Igfbp7 |
G |
A |
5: 77,499,803 (GRCm39) |
T220I |
probably damaging |
Het |
| Ints3 |
T |
C |
3: 90,322,819 (GRCm39) |
Q137R |
probably damaging |
Het |
| Kcna6 |
A |
G |
6: 126,716,292 (GRCm39) |
F199S |
possibly damaging |
Het |
| Kirrel1 |
T |
C |
3: 86,995,705 (GRCm39) |
I410V |
probably benign |
Het |
| Llgl2 |
T |
C |
11: 115,739,125 (GRCm39) |
V332A |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 138,822,661 (GRCm39) |
I517M |
probably damaging |
Het |
| Mas1 |
T |
C |
17: 13,061,106 (GRCm39) |
T106A |
probably benign |
Het |
| Mast4 |
T |
A |
13: 102,887,932 (GRCm39) |
Y1159F |
possibly damaging |
Het |
| Mmp2 |
A |
G |
8: 93,576,780 (GRCm39) |
D601G |
probably damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,434,793 (GRCm39) |
I2217F |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,393,889 (GRCm39) |
S2891P |
probably damaging |
Het |
| Naip6 |
A |
G |
13: 100,437,209 (GRCm39) |
V438A |
possibly damaging |
Het |
| Or4g17 |
A |
G |
2: 111,209,738 (GRCm39) |
H131R |
not run |
Het |
| Pdf |
T |
C |
8: 107,775,173 (GRCm39) |
R20G |
probably benign |
Het |
| Pfdn2 |
T |
C |
1: 171,184,162 (GRCm39) |
L47P |
probably damaging |
Het |
| Pik3c2g |
C |
A |
6: 139,841,981 (GRCm39) |
N795K |
|
Het |
| Ppip5k1 |
A |
T |
2: 121,142,450 (GRCm39) |
V1333D |
probably damaging |
Het |
| Pramel51 |
T |
C |
12: 88,143,187 (GRCm39) |
T339A |
possibly damaging |
Het |
| Prss44 |
A |
T |
9: 110,644,530 (GRCm39) |
I213F |
probably damaging |
Het |
| Rbm47 |
A |
G |
5: 66,183,557 (GRCm39) |
Y349H |
probably damaging |
Het |
| Rcl1 |
A |
T |
19: 29,108,096 (GRCm39) |
T253S |
probably benign |
Het |
| Rdh1 |
A |
G |
10: 127,595,754 (GRCm39) |
|
probably benign |
Het |
| Scn7a |
C |
T |
2: 66,522,898 (GRCm39) |
W935* |
probably null |
Het |
| Sec24b |
T |
C |
3: 129,835,042 (GRCm39) |
N52S |
probably benign |
Het |
| Serpinb5 |
A |
T |
1: 106,800,091 (GRCm39) |
I94L |
probably benign |
Het |
| Setx |
T |
C |
2: 29,036,638 (GRCm39) |
V1041A |
probably benign |
Het |
| Slco3a1 |
G |
A |
7: 73,968,232 (GRCm39) |
A496V |
possibly damaging |
Het |
| Spag5 |
T |
A |
11: 78,204,205 (GRCm39) |
L486* |
probably null |
Het |
| Spink5 |
T |
C |
18: 44,115,317 (GRCm39) |
I183T |
probably damaging |
Het |
| Srd5a1 |
T |
C |
13: 69,759,173 (GRCm39) |
Y65C |
probably benign |
Het |
| Ssh2 |
T |
A |
11: 77,344,349 (GRCm39) |
I778N |
possibly damaging |
Het |
| Sstr1 |
C |
T |
12: 58,260,172 (GRCm39) |
S265L |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 76,014,529 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
A |
T |
5: 122,399,547 (GRCm39) |
D92E |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,503,644 (GRCm39) |
I940M |
probably damaging |
Het |
| Tmeff2 |
T |
C |
1: 51,018,599 (GRCm39) |
W194R |
unknown |
Het |
| Tomm20 |
T |
C |
8: 127,663,903 (GRCm39) |
T94A |
probably benign |
Het |
| Ucn2 |
A |
G |
9: 108,815,532 (GRCm39) |
N98S |
probably benign |
Het |
| V1rd19 |
A |
T |
7: 23,702,743 (GRCm39) |
I70L |
probably benign |
Het |
| Vmn1r18 |
A |
G |
6: 57,367,503 (GRCm39) |
L17P |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,909,534 (GRCm39) |
T20A |
probably benign |
Het |
| Wdr59 |
G |
A |
8: 112,220,986 (GRCm39) |
T182I |
|
Het |
| Zfp40 |
A |
T |
17: 23,395,155 (GRCm39) |
C477* |
probably null |
Het |
| Zfp68 |
A |
G |
5: 138,604,830 (GRCm39) |
S498P |
possibly damaging |
Het |
| Zfp729b |
T |
C |
13: 67,757,755 (GRCm39) |
|
probably null |
Het |
| Zfp846 |
T |
G |
9: 20,505,521 (GRCm39) |
N460K |
probably benign |
Het |
| Zim1 |
T |
C |
7: 6,680,352 (GRCm39) |
Y437C |
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 |
|
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 |
|
|
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'- TGTCAATAAGCCCAGGTAGAC -3'
(R):5'- GGTTTAAACACCTCAAGGCCC -3'
Sequencing Primer
(F):5'- TCAATAAGCCCAGGTAGACAGTTATG -3'
(R):5'- AAAGGTAAGTCCCCCTTTGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation