Incidental Mutation 'R4857:Gsap'
| ID |
374558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsap
|
| Ensembl Gene |
ENSMUSG00000039934 |
| Gene Name |
gamma-secretase activating protein |
| Synonyms |
A530088I07Rik, Pion |
| MMRRC Submission |
042468-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R4857 (G1)
|
| Quality Score |
191 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21391253-21520130 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 21492797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036031]
[ENSMUST00000036031]
[ENSMUST00000195969]
[ENSMUST00000195969]
[ENSMUST00000198014]
[ENSMUST00000198014]
[ENSMUST00000198930]
[ENSMUST00000198937]
[ENSMUST00000198937]
[ENSMUST00000198937]
[ENSMUST00000198937]
|
| AlphaFold |
Q3TCV3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036031
|
| SMART Domains |
Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
| 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 null
Transcript: ENSMUST00000036031
|
| SMART Domains |
Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
| 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: ENSMUST00000195969
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198014
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198014
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198930
|
| Predicted Effect |
probably null
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 |
|
| Predicted Effect |
probably null
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 |
|
| Predicted Effect |
probably null
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 |
|
| Predicted Effect |
probably null
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199553
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.3%
|
| Validation Efficiency |
97% (115/119) |
| 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: 101 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930548G14Rik |
C |
T |
15: 46,488,927 (GRCm39) |
|
noncoding transcript |
Het |
| Aasdh |
A |
T |
5: 77,035,131 (GRCm39) |
F428L |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,244,143 (GRCm39) |
N2002S |
probably benign |
Het |
| Acot7 |
T |
G |
4: 152,322,211 (GRCm39) |
F248V |
possibly damaging |
Het |
| Acsf2 |
A |
G |
11: 94,460,164 (GRCm39) |
I396T |
probably benign |
Het |
| Agbl1 |
A |
G |
7: 76,069,583 (GRCm39) |
N372D |
probably benign |
Het |
| Ahctf1 |
A |
T |
1: 179,626,922 (GRCm39) |
|
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,736,300 (GRCm39) |
D1830G |
|
Het |
| Bcl7b |
A |
G |
5: 135,202,033 (GRCm39) |
*59W |
probably null |
Het |
| Bdh1 |
A |
G |
16: 31,266,366 (GRCm39) |
|
probably null |
Het |
| Bin3 |
A |
G |
14: 70,366,344 (GRCm39) |
N69S |
probably benign |
Het |
| Bltp3b |
A |
T |
10: 89,615,825 (GRCm39) |
N156I |
probably damaging |
Het |
| Bsdc1 |
T |
C |
4: 129,365,685 (GRCm39) |
|
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,253,863 (GRCm39) |
V700A |
probably damaging |
Het |
| Calcr |
T |
C |
6: 3,708,511 (GRCm39) |
N225S |
probably benign |
Het |
| Cby2 |
C |
T |
14: 75,830,478 (GRCm39) |
E8K |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,227,563 (GRCm39) |
S1173P |
probably damaging |
Het |
| Cftr |
C |
T |
6: 18,320,974 (GRCm39) |
T1428M |
possibly damaging |
Het |
| Chd1l |
T |
C |
3: 97,479,975 (GRCm39) |
K591E |
probably benign |
Het |
| Chrd |
C |
T |
16: 20,557,508 (GRCm39) |
P709L |
possibly damaging |
Het |
| Ckap4 |
T |
C |
10: 84,369,352 (GRCm39) |
R127G |
possibly damaging |
Het |
| Cnbd2 |
T |
C |
2: 156,209,485 (GRCm39) |
F476S |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,297,716 (GRCm39) |
V420A |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,345,953 (GRCm39) |
D2431G |
probably benign |
Het |
| Duox1 |
T |
A |
2: 122,146,212 (GRCm39) |
I10N |
probably benign |
Het |
| Ece2 |
T |
A |
16: 20,436,556 (GRCm39) |
V126D |
probably damaging |
Het |
| Elfn1 |
T |
C |
5: 139,958,840 (GRCm39) |
Y615H |
probably damaging |
Het |
| Epha1 |
T |
C |
6: 42,338,416 (GRCm39) |
D720G |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,926,018 (GRCm39) |
I3741V |
probably benign |
Het |
| Gm53 |
A |
T |
11: 96,142,562 (GRCm39) |
|
noncoding transcript |
Het |
| Grb10 |
G |
T |
11: 11,901,469 (GRCm39) |
|
probably benign |
Het |
| Grid2ip |
A |
G |
5: 143,368,384 (GRCm39) |
H568R |
probably damaging |
Het |
| Gse1 |
T |
C |
8: 121,299,496 (GRCm39) |
|
probably benign |
Het |
| Gstm1 |
T |
C |
3: 107,923,724 (GRCm39) |
R94G |
possibly damaging |
Het |
| Gtf2ird1 |
A |
G |
5: 134,391,398 (GRCm39) |
F866L |
probably damaging |
Het |
| Haao |
T |
A |
17: 84,146,009 (GRCm39) |
|
probably null |
Het |
| Hcn4 |
A |
T |
9: 58,766,853 (GRCm39) |
I805F |
unknown |
Het |
| Hemk1 |
A |
T |
9: 107,206,647 (GRCm39) |
|
probably benign |
Het |
| Il12rb1 |
A |
T |
8: 71,263,232 (GRCm39) |
Y33F |
possibly damaging |
Het |
| Il19 |
T |
A |
1: 130,863,683 (GRCm39) |
I103F |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,387,828 (GRCm39) |
N1522S |
probably benign |
Het |
| Klhdc8a |
A |
G |
1: 132,230,843 (GRCm39) |
Y236C |
probably damaging |
Het |
| Klhl3 |
C |
T |
13: 58,166,620 (GRCm39) |
G404S |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,196,979 (GRCm39) |
|
probably benign |
Het |
| Lgi1 |
C |
A |
19: 38,294,698 (GRCm39) |
A490E |
probably damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,528,807 (GRCm39) |
L112P |
probably damaging |
Het |
| Lmo7 |
T |
A |
14: 102,124,784 (GRCm39) |
|
probably null |
Het |
| Lpin1 |
A |
C |
12: 16,613,631 (GRCm39) |
I479S |
possibly damaging |
Het |
| Lrrc40 |
T |
A |
3: 157,771,866 (GRCm39) |
|
probably benign |
Het |
| Lrrc9 |
A |
G |
12: 72,546,466 (GRCm39) |
N1218S |
possibly damaging |
Het |
| Map3k9 |
A |
G |
12: 81,771,401 (GRCm39) |
V729A |
probably benign |
Het |
| Marf1 |
A |
T |
16: 13,946,475 (GRCm39) |
Y1215* |
probably null |
Het |
| Moap1 |
T |
A |
12: 102,708,824 (GRCm39) |
I242L |
probably benign |
Het |
| Mpo |
A |
G |
11: 87,687,107 (GRCm39) |
K218E |
probably benign |
Het |
| Mpz |
C |
T |
1: 170,986,379 (GRCm39) |
R98C |
probably damaging |
Het |
| Neb |
T |
G |
2: 52,091,992 (GRCm39) |
K5024T |
probably damaging |
Het |
| Nlrp4b |
C |
T |
7: 10,449,225 (GRCm39) |
T109I |
probably benign |
Het |
| Noc3l |
T |
A |
19: 38,781,244 (GRCm39) |
|
probably null |
Het |
| Nosip |
G |
A |
7: 44,726,102 (GRCm39) |
V220I |
probably benign |
Het |
| Nyap1 |
A |
C |
5: 137,733,840 (GRCm39) |
S398A |
probably damaging |
Het |
| Or12d17 |
A |
G |
17: 37,777,714 (GRCm39) |
M206V |
possibly damaging |
Het |
| Or4a68 |
T |
G |
2: 89,269,967 (GRCm39) |
I219L |
probably damaging |
Het |
| Or4f54 |
A |
G |
2: 111,123,488 (GRCm39) |
N292D |
possibly damaging |
Het |
| Osbpl7 |
T |
C |
11: 96,947,495 (GRCm39) |
|
probably benign |
Het |
| Pard3 |
A |
T |
8: 128,050,535 (GRCm39) |
Y199F |
probably damaging |
Het |
| Pcdha11 |
G |
A |
18: 37,144,505 (GRCm39) |
V199I |
probably benign |
Het |
| Pcdhga8 |
A |
T |
18: 37,859,967 (GRCm39) |
N341I |
probably damaging |
Het |
| Pcsk4 |
A |
G |
10: 80,160,873 (GRCm39) |
S318P |
probably damaging |
Het |
| Phldb1 |
C |
A |
9: 44,607,389 (GRCm39) |
R1272L |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,603,642 (GRCm39) |
T103A |
probably damaging |
Het |
| Pibf1 |
T |
A |
14: 99,423,937 (GRCm39) |
Y503* |
probably null |
Het |
| Pkn1 |
A |
T |
8: 84,410,856 (GRCm39) |
|
probably null |
Het |
| Pramel22 |
A |
T |
4: 143,383,158 (GRCm39) |
N20K |
possibly damaging |
Het |
| Ptprf |
A |
G |
4: 118,074,394 (GRCm39) |
|
probably benign |
Het |
| Rbm19 |
C |
A |
5: 120,270,898 (GRCm39) |
|
probably benign |
Het |
| Rcan1 |
T |
C |
16: 92,262,794 (GRCm39) |
D5G |
possibly damaging |
Het |
| Recql5 |
A |
T |
11: 115,819,038 (GRCm39) |
L176Q |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,714,455 (GRCm39) |
L2393Q |
probably damaging |
Het |
| Rp1 |
C |
A |
1: 4,422,539 (GRCm39) |
K180N |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,422,540 (GRCm39) |
K180M |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 142,147,531 (GRCm39) |
V1461A |
probably benign |
Het |
| Sdk2 |
A |
T |
11: 113,712,208 (GRCm39) |
L1653* |
probably null |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Skint10 |
A |
T |
4: 112,603,830 (GRCm39) |
V119D |
possibly damaging |
Het |
| Sncaip |
T |
C |
18: 53,002,297 (GRCm39) |
S273P |
probably benign |
Het |
| Sp1 |
T |
G |
15: 102,339,409 (GRCm39) |
I449S |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,119,682 (GRCm39) |
T4443A |
possibly damaging |
Het |
| Spats2 |
T |
C |
15: 99,072,301 (GRCm39) |
L78P |
probably damaging |
Het |
| Stambp |
T |
A |
6: 83,533,348 (GRCm39) |
N305I |
probably benign |
Het |
| Stim2 |
A |
T |
5: 54,275,888 (GRCm39) |
S688C |
probably damaging |
Het |
| Sytl3 |
A |
G |
17: 7,003,980 (GRCm39) |
N355S |
probably damaging |
Het |
| Taf4b |
C |
T |
18: 14,937,635 (GRCm39) |
A236V |
probably null |
Het |
| Tnfaip6 |
A |
G |
2: 51,941,086 (GRCm39) |
|
probably null |
Het |
| Trpc2 |
T |
A |
7: 101,733,176 (GRCm39) |
S416T |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,569,210 (GRCm39) |
T27228A |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,269,917 (GRCm39) |
D1721E |
probably benign |
Het |
| Usp47 |
T |
A |
7: 111,681,759 (GRCm39) |
H523Q |
probably damaging |
Het |
| Vmn1r8 |
A |
T |
6: 57,013,338 (GRCm39) |
I130F |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,456,800 (GRCm39) |
S749G |
probably benign |
Het |
| Xrcc5 |
C |
A |
1: 72,365,424 (GRCm39) |
T283K |
possibly damaging |
Het |
| Ydjc |
A |
G |
16: 16,966,002 (GRCm39) |
|
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 |
|
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'- TCTGGAAGCTGGAGATGCTG -3'
(R):5'- TGGCCTGAAGGAATGGTTC -3'
Sequencing Primer
(F):5'- AAGCTGGAGATGCTGGCTCG -3'
(R):5'- GGCTGTACTAAGAATTTGTAAGGCTC -3'
|
| Posted On |
2016-03-16 |
Incidental Mutation