Incidental Mutation 'R8219:Gsap'
| ID |
636539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsap
|
| Ensembl Gene |
ENSMUSG00000039934 |
| Gene Name |
gamma-secretase activating protein |
| Synonyms |
A530088I07Rik, Pion |
| MMRRC Submission |
067659-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R8219 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21391253-21520130 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21456113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 437
(I437L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036031]
[ENSMUST00000195969]
[ENSMUST00000198014]
[ENSMUST00000198071]
[ENSMUST00000198937]
|
| AlphaFold |
Q3TCV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036031
AA Change: I437L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: I437L
| 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 benign
Transcript: ENSMUST00000198937
AA Change: I406L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
AA Change: I406L
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.7%
|
| Validation Efficiency |
100% (62/62) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
A |
T |
11: 50,833,363 (GRCm39) |
S80T |
unknown |
Het |
| Acnat1 |
T |
A |
4: 49,447,748 (GRCm39) |
I278F |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,760,750 (GRCm39) |
Q815L |
probably benign |
Het |
| Aff1 |
T |
A |
5: 103,994,199 (GRCm39) |
Y1022N |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,950,335 (GRCm39) |
K1034E |
probably benign |
Het |
| Ano8 |
A |
T |
8: 71,933,357 (GRCm39) |
L645Q |
unknown |
Het |
| Atg9b |
A |
G |
5: 24,591,330 (GRCm39) |
L756P |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,770,811 (GRCm39) |
I411N |
probably damaging |
Het |
| Bmp6 |
T |
A |
13: 38,529,963 (GRCm39) |
C19S |
unknown |
Het |
| Borcs5 |
A |
G |
6: 134,621,313 (GRCm39) |
H27R |
probably benign |
Het |
| Cachd1 |
C |
A |
4: 100,848,159 (GRCm39) |
D1091E |
probably benign |
Het |
| Ccdc186 |
T |
A |
19: 56,781,777 (GRCm39) |
M801L |
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,376,000 (GRCm39) |
M658K |
probably damaging |
Het |
| Col1a1 |
C |
T |
11: 94,834,184 (GRCm39) |
R500C |
probably damaging |
Het |
| Cul4a |
T |
A |
8: 13,196,540 (GRCm39) |
D731E |
possibly damaging |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| E2f7 |
T |
A |
10: 110,595,704 (GRCm39) |
V133E |
probably damaging |
Het |
| Fam161b |
T |
C |
12: 84,393,648 (GRCm39) |
E575G |
probably benign |
Het |
| Fubp1 |
T |
A |
3: 151,926,103 (GRCm39) |
V275D |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,931,643 (GRCm39) |
R367* |
probably null |
Het |
| Gm6902 |
G |
A |
7: 22,973,143 (GRCm39) |
A128V |
probably benign |
Het |
| Gnptab |
A |
G |
10: 88,269,654 (GRCm39) |
T786A |
probably benign |
Het |
| Golga2 |
A |
G |
2: 32,196,492 (GRCm39) |
N981D |
probably damaging |
Het |
| Gulp1 |
A |
G |
1: 44,793,501 (GRCm39) |
|
probably null |
Het |
| Kcnn1 |
T |
C |
8: 71,305,499 (GRCm39) |
Y237C |
probably damaging |
Het |
| Klhl28 |
A |
T |
12: 64,998,431 (GRCm39) |
N354K |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,572,417 (GRCm39) |
Y541H |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,123,073 (GRCm39) |
Y706H |
probably damaging |
Het |
| Lima1 |
G |
T |
15: 99,678,671 (GRCm39) |
T590K |
probably damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
| Mrgprb8 |
G |
A |
7: 48,038,649 (GRCm39) |
V107M |
possibly damaging |
Het |
| Mrpl3 |
T |
A |
9: 104,934,271 (GRCm39) |
N139K |
possibly damaging |
Het |
| Nhsl3 |
T |
A |
4: 129,141,946 (GRCm39) |
D65V |
possibly damaging |
Het |
| Nudt16 |
T |
A |
9: 105,007,636 (GRCm39) |
N161I |
probably damaging |
Het |
| Obscn |
G |
A |
11: 59,013,574 (GRCm39) |
S1091L |
probably benign |
Het |
| Oog4 |
T |
C |
4: 143,166,508 (GRCm39) |
M99V |
probably benign |
Het |
| Or5b105 |
A |
C |
19: 13,080,284 (GRCm39) |
L122R |
probably damaging |
Het |
| Or8c16 |
A |
C |
9: 38,130,668 (GRCm39) |
D183A |
probably damaging |
Het |
| Osbpl6 |
A |
T |
2: 76,386,247 (GRCm39) |
D303V |
probably damaging |
Het |
| Pcdhb21 |
T |
C |
18: 37,647,708 (GRCm39) |
F279S |
probably damaging |
Het |
| Peg3 |
G |
A |
7: 6,711,364 (GRCm39) |
T1286I |
probably benign |
Het |
| Phax |
A |
G |
18: 56,708,754 (GRCm39) |
N106S |
probably damaging |
Het |
| Pkdrej |
A |
G |
15: 85,705,493 (GRCm39) |
Y148H |
probably damaging |
Het |
| Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
| Ptprn2 |
C |
A |
12: 117,148,357 (GRCm39) |
Q706K |
probably benign |
Het |
| Rdh11 |
T |
G |
12: 79,235,880 (GRCm39) |
K23Q |
probably benign |
Het |
| Rit2 |
T |
A |
18: 31,108,547 (GRCm39) |
E146V |
probably damaging |
Het |
| Rnf141 |
T |
C |
7: 110,436,472 (GRCm39) |
|
probably benign |
Het |
| Sars1 |
T |
A |
3: 108,352,378 (GRCm39) |
E24V |
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 62,144,932 (GRCm39) |
I1129V |
probably benign |
Het |
| Slc10a5 |
G |
T |
3: 10,400,384 (GRCm39) |
P92Q |
probably benign |
Het |
| Slc24a5 |
A |
T |
2: 124,927,575 (GRCm39) |
|
probably null |
Het |
| Slc5a8 |
A |
G |
10: 88,757,561 (GRCm39) |
Y517C |
probably damaging |
Het |
| Slc6a5 |
A |
G |
7: 49,561,911 (GRCm39) |
M148V |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,952,857 (GRCm39) |
|
probably null |
Het |
| Tgm4 |
A |
T |
9: 122,874,117 (GRCm39) |
Y119F |
probably benign |
Het |
| Tgm6 |
A |
G |
2: 129,993,200 (GRCm39) |
K562R |
probably benign |
Het |
| Tlr3 |
T |
C |
8: 45,851,016 (GRCm39) |
E627G |
possibly damaging |
Het |
| Tmprss11f |
A |
G |
5: 86,677,878 (GRCm39) |
L297P |
probably damaging |
Het |
| Tpbgl |
T |
C |
7: 99,274,978 (GRCm39) |
H293R |
probably benign |
Het |
| Trank1 |
A |
C |
9: 111,193,977 (GRCm39) |
K667T |
probably damaging |
Het |
| Trpm1 |
A |
T |
7: 63,851,699 (GRCm39) |
Q139L |
probably benign |
Het |
| Ttf2 |
T |
G |
3: 100,869,879 (GRCm39) |
K398T |
possibly damaging |
Het |
| Xpa |
A |
T |
4: 46,183,150 (GRCm39) |
M213K |
probably benign |
Het |
| Zmym2 |
T |
A |
14: 57,163,316 (GRCm39) |
S623T |
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 |
|
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 |
|
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'- CTAGGCTTGCTCTGACTGAG -3'
(R):5'- CCGAGGAAGACTATGCTCAAGC -3'
Sequencing Primer
(F):5'- CTCTGACTGAGGTGAGGTCTTC -3'
(R):5'- GCTCAAGCAAAGACAGTTACAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation