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: 0.107)
|
| Stock # |
R7332 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21186255-21315132 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21290121 bp (GRCm38)
|
| 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: 56,918,121 (GRCm38) |
S449P |
probably damaging |
Het |
| Atp6v0c |
A |
C |
17: 24,169,224 (GRCm38) |
S21A |
probably benign |
Het |
| Cacna1e |
T |
C |
1: 154,725,801 (GRCm38) |
Y40C |
possibly damaging |
Het |
| Cdadc1 |
A |
G |
14: 59,575,764 (GRCm38) |
I398T |
possibly damaging |
Het |
| Cfap44 |
T |
A |
16: 44,429,828 (GRCm38) |
D756E |
probably damaging |
Het |
| Clcnkb |
A |
T |
4: 141,413,932 (GRCm38) |
L104Q |
probably null |
Het |
| Clk1 |
G |
A |
1: 58,412,694 (GRCm38) |
H421Y |
probably benign |
Het |
| Cmpk2 |
A |
T |
12: 26,478,062 (GRCm38) |
D426V |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,092,553 (GRCm38) |
L2009S |
possibly damaging |
Het |
| Col5a2 |
C |
G |
1: 45,380,165 (GRCm38) |
D1252H |
probably damaging |
Het |
| Coro1b |
A |
G |
19: 4,149,357 (GRCm38) |
K5R |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,419,567 (GRCm38) |
T1346A |
|
Het |
| Csrp1 |
G |
T |
1: 135,739,411 (GRCm38) |
W4L |
probably benign |
Het |
| Cyp3a25 |
A |
G |
5: 145,993,007 (GRCm38) |
I184T |
probably damaging |
Het |
| Egfl7 |
C |
A |
2: 26,590,713 (GRCm38) |
R128S |
probably benign |
Het |
| Fggy |
A |
T |
4: 95,623,482 (GRCm38) |
N157I |
probably damaging |
Het |
| Gldc |
A |
T |
19: 30,116,526 (GRCm38) |
L697Q |
probably damaging |
Het |
| Gm10436 |
T |
C |
12: 88,176,417 (GRCm38) |
T339A |
possibly damaging |
Het |
| Gm4952 |
T |
A |
19: 12,627,009 (GRCm38) |
Y262N |
probably damaging |
Het |
| Hps1 |
T |
C |
19: 42,777,912 (GRCm38) |
|
probably null |
Het |
| Hsbp1l1 |
T |
C |
18: 80,236,823 (GRCm38) |
|
probably benign |
Het |
| Igfbp7 |
G |
A |
5: 77,351,956 (GRCm38) |
T220I |
probably damaging |
Het |
| Ints3 |
T |
C |
3: 90,415,512 (GRCm38) |
Q137R |
probably damaging |
Het |
| Kcna6 |
A |
G |
6: 126,739,329 (GRCm38) |
F199S |
possibly damaging |
Het |
| Kirrel |
T |
C |
3: 87,088,398 (GRCm38) |
I410V |
probably benign |
Het |
| Llgl2 |
T |
C |
11: 115,848,299 (GRCm38) |
V332A |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 139,242,745 (GRCm38) |
I517M |
probably damaging |
Het |
| Mas1 |
T |
C |
17: 12,842,219 (GRCm38) |
T106A |
probably benign |
Het |
| Mast4 |
T |
A |
13: 102,751,424 (GRCm38) |
Y1159F |
possibly damaging |
Het |
| Mmp2 |
A |
G |
8: 92,850,152 (GRCm38) |
D601G |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,156,453 (GRCm38) |
S2891P |
probably damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,197,357 (GRCm38) |
I2217F |
probably damaging |
Het |
| Naip6 |
A |
G |
13: 100,300,701 (GRCm38) |
V438A |
possibly damaging |
Het |
| Olfr1284 |
A |
G |
2: 111,379,393 (GRCm38) |
H131R |
not run |
Het |
| Pdf |
T |
C |
8: 107,048,541 (GRCm38) |
R20G |
probably benign |
Het |
| Pfdn2 |
T |
C |
1: 171,356,594 (GRCm38) |
L47P |
probably damaging |
Het |
| Pik3c2g |
C |
A |
6: 139,896,255 (GRCm38) |
N795K |
|
Het |
| Ppip5k1 |
A |
T |
2: 121,311,969 (GRCm38) |
V1333D |
probably damaging |
Het |
| Prss44 |
A |
T |
9: 110,815,462 (GRCm38) |
I213F |
probably damaging |
Het |
| Rbm47 |
A |
G |
5: 66,026,214 (GRCm38) |
Y349H |
probably damaging |
Het |
| Rcl1 |
A |
T |
19: 29,130,696 (GRCm38) |
T253S |
probably benign |
Het |
| Rdh1 |
A |
G |
10: 127,759,885 (GRCm38) |
|
probably benign |
Het |
| Scn7a |
C |
T |
2: 66,692,554 (GRCm38) |
W935* |
probably null |
Het |
| Sec24b |
T |
C |
3: 130,041,393 (GRCm38) |
N52S |
probably benign |
Het |
| Serpinb5 |
A |
T |
1: 106,872,361 (GRCm38) |
I94L |
probably benign |
Het |
| Setx |
T |
C |
2: 29,146,626 (GRCm38) |
V1041A |
probably benign |
Het |
| Slco3a1 |
G |
A |
7: 74,318,484 (GRCm38) |
A496V |
possibly damaging |
Het |
| Spag5 |
T |
A |
11: 78,313,379 (GRCm38) |
L486* |
probably null |
Het |
| Spink5 |
T |
C |
18: 43,982,250 (GRCm38) |
I183T |
probably damaging |
Het |
| Srd5a1 |
T |
C |
13: 69,611,054 (GRCm38) |
Y65C |
probably benign |
Het |
| Ssh2 |
T |
A |
11: 77,453,523 (GRCm38) |
I778N |
possibly damaging |
Het |
| Sstr1 |
C |
T |
12: 58,213,386 (GRCm38) |
S265L |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,967,755 (GRCm38) |
|
probably null |
Het |
| Tctn1 |
A |
T |
5: 122,261,484 (GRCm38) |
D92E |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,453,369 (GRCm38) |
I940M |
probably damaging |
Het |
| Tmeff2 |
T |
C |
1: 50,979,440 (GRCm38) |
W194R |
unknown |
Het |
| Tomm20 |
T |
C |
8: 126,937,153 (GRCm38) |
T94A |
probably benign |
Het |
| Ucn2 |
A |
G |
9: 108,986,464 (GRCm38) |
N98S |
probably benign |
Het |
| V1rd19 |
A |
T |
7: 24,003,318 (GRCm38) |
I70L |
probably benign |
Het |
| Vmn1r18 |
A |
G |
6: 57,390,518 (GRCm38) |
L17P |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 42,260,110 (GRCm38) |
T20A |
probably benign |
Het |
| Wdr59 |
G |
A |
8: 111,494,354 (GRCm38) |
T182I |
|
Het |
| Zfp40 |
A |
T |
17: 23,176,181 (GRCm38) |
C477* |
probably null |
Het |
| Zfp68 |
A |
G |
5: 138,606,568 (GRCm38) |
S498P |
possibly damaging |
Het |
| Zfp729b |
T |
C |
13: 67,609,636 (GRCm38) |
|
probably null |
Het |
| Zfp846 |
T |
G |
9: 20,594,225 (GRCm38) |
N460K |
probably benign |
Het |
| Zim1 |
T |
C |
7: 6,677,353 (GRCm38) |
Y437C |
probably damaging |
Het |
|
| Other mutations in Gsap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00788:Gsap
|
APN |
5 |
21,254,024 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL00788:Gsap
|
APN |
5 |
21,221,305 (GRCm38) |
splice site |
probably benign |
|
|
IGL01344:Gsap
|
APN |
5 |
21,242,883 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01347:Gsap
|
APN |
5 |
21,226,320 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL01618:Gsap
|
APN |
5 |
21,226,248 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01730:Gsap
|
APN |
5 |
21,290,154 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02061:Gsap
|
APN |
5 |
21,281,611 (GRCm38) |
splice site |
probably benign |
|
|
IGL02161:Gsap
|
APN |
5 |
21,253,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02259:Gsap
|
APN |
5 |
21,186,400 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02635:Gsap
|
APN |
5 |
21,289,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02684:Gsap
|
APN |
5 |
21,242,803 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL02822:Gsap
|
APN |
5 |
21,217,444 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03231:Gsap
|
APN |
5 |
21,229,166 (GRCm38) |
missense |
probably damaging |
0.99 |
|
PIT4305001:Gsap
|
UTSW |
5 |
21,186,409 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0012:Gsap
|
UTSW |
5 |
21,226,229 (GRCm38) |
splice site |
probably benign |
|
|
R0012:Gsap
|
UTSW |
5 |
21,226,229 (GRCm38) |
splice site |
probably benign |
|
|
R0019:Gsap
|
UTSW |
5 |
21,270,622 (GRCm38) |
splice site |
probably benign |
|
|
R0019:Gsap
|
UTSW |
5 |
21,270,622 (GRCm38) |
splice site |
probably benign |
|
|
R0045:Gsap
|
UTSW |
5 |
21,226,832 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R0054:Gsap
|
UTSW |
5 |
21,250,935 (GRCm38) |
splice site |
probably benign |
|
|
R0054:Gsap
|
UTSW |
5 |
21,250,935 (GRCm38) |
splice site |
probably benign |
|
|
R0409:Gsap
|
UTSW |
5 |
21,222,445 (GRCm38) |
splice site |
probably benign |
|
|
R0507:Gsap
|
UTSW |
5 |
21,269,963 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R0624:Gsap
|
UTSW |
5 |
21,253,951 (GRCm38) |
splice site |
probably null |
|
|
R1037:Gsap
|
UTSW |
5 |
21,251,165 (GRCm38) |
splice site |
probably benign |
|
|
R1076:Gsap
|
UTSW |
5 |
21,287,694 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R1459:Gsap
|
UTSW |
5 |
21,207,238 (GRCm38) |
splice site |
probably benign |
|
|
R1757:Gsap
|
UTSW |
5 |
21,281,037 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1852:Gsap
|
UTSW |
5 |
21,290,545 (GRCm38) |
splice site |
probably null |
|
|
R2034:Gsap
|
UTSW |
5 |
21,270,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2069:Gsap
|
UTSW |
5 |
21,226,839 (GRCm38) |
splice site |
probably benign |
|
|
R2125:Gsap
|
UTSW |
5 |
21,242,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2172:Gsap
|
UTSW |
5 |
21,222,440 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2310:Gsap
|
UTSW |
5 |
21,196,090 (GRCm38) |
nonsense |
probably null |
|
|
R2337:Gsap
|
UTSW |
5 |
21,288,630 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3442:Gsap
|
UTSW |
5 |
21,278,127 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4229:Gsap
|
UTSW |
5 |
21,246,977 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4271:Gsap
|
UTSW |
5 |
21,226,350 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4551:Gsap
|
UTSW |
5 |
21,290,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4553:Gsap
|
UTSW |
5 |
21,290,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4649:Gsap
|
UTSW |
5 |
21,226,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4687:Gsap
|
UTSW |
5 |
21,246,971 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4799:Gsap
|
UTSW |
5 |
21,250,943 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4857:Gsap
|
UTSW |
5 |
21,287,799 (GRCm38) |
splice site |
probably null |
|
|
R4973:Gsap
|
UTSW |
5 |
21,254,039 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5015:Gsap
|
UTSW |
5 |
21,222,408 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5031:Gsap
|
UTSW |
5 |
21,242,826 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R5120:Gsap
|
UTSW |
5 |
21,269,936 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5451:Gsap
|
UTSW |
5 |
21,217,447 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5469:Gsap
|
UTSW |
5 |
21,290,544 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5519:Gsap
|
UTSW |
5 |
21,289,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5588:Gsap
|
UTSW |
5 |
21,251,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5650:Gsap
|
UTSW |
5 |
21,251,053 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6064:Gsap
|
UTSW |
5 |
21,229,225 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R6139:Gsap
|
UTSW |
5 |
21,281,540 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6148:Gsap
|
UTSW |
5 |
21,270,577 (GRCm38) |
missense |
probably benign |
0.39 |
|
R6148:Gsap
|
UTSW |
5 |
21,226,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6226:Gsap
|
UTSW |
5 |
21,217,431 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6859:Gsap
|
UTSW |
5 |
21,281,018 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6977:Gsap
|
UTSW |
5 |
21,271,221 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6995:Gsap
|
UTSW |
5 |
21,271,237 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R7013:Gsap
|
UTSW |
5 |
21,278,110 (GRCm38) |
missense |
probably benign |
0.39 |
|
R7159:Gsap
|
UTSW |
5 |
21,270,620 (GRCm38) |
splice site |
probably null |
|
|
R7181:Gsap
|
UTSW |
5 |
21,253,429 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7234:Gsap
|
UTSW |
5 |
21,186,435 (GRCm38) |
missense |
probably benign |
|
|
R7381:Gsap
|
UTSW |
5 |
21,226,787 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8047:Gsap
|
UTSW |
5 |
21,257,868 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8062:Gsap
|
UTSW |
5 |
21,194,463 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8126:Gsap
|
UTSW |
5 |
21,270,012 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8219:Gsap
|
UTSW |
5 |
21,251,115 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8355:Gsap
|
UTSW |
5 |
21,251,019 (GRCm38) |
nonsense |
probably null |
|
|
R8472:Gsap
|
UTSW |
5 |
21,222,434 (GRCm38) |
nonsense |
probably null |
|
|
R8715:Gsap
|
UTSW |
5 |
21,226,247 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R8745:Gsap
|
UTSW |
5 |
21,269,951 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8798:Gsap
|
UTSW |
5 |
21,271,250 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9080:Gsap
|
UTSW |
5 |
21,194,412 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R9120:Gsap
|
UTSW |
5 |
21,253,436 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9178:Gsap
|
UTSW |
5 |
21,217,473 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9209:Gsap
|
UTSW |
5 |
21,228,066 (GRCm38) |
missense |
probably benign |
0.10 |
|
R9404:Gsap
|
UTSW |
5 |
21,269,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Gsap
|
UTSW |
5 |
21,251,032 (GRCm38) |
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