Incidental Mutation 'R4782:Setx'
| ID |
366556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setx
|
| Ensembl Gene |
ENSMUSG00000043535 |
| Gene Name |
senataxin |
| Synonyms |
Als4, A930037J23Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4782 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29014193-29072483 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29034058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 332
(R332Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061578]
|
| AlphaFold |
A2AKX3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061578
AA Change: R332Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000051492
Gene: ENSMUSG00000043535
AA Change: R332Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
864 |
876 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1020 |
N/A |
INTRINSIC |
|
low complexity region
|
1058 |
1079 |
N/A |
INTRINSIC |
|
low complexity region
|
1575 |
1594 |
N/A |
INTRINSIC |
|
Pfam:AAA_11
|
1909 |
2194 |
1.9e-68 |
PFAM |
|
Pfam:AAA_19
|
1924 |
2015 |
2.9e-11 |
PFAM |
|
Pfam:AAA_12
|
2201 |
2402 |
1.1e-54 |
PFAM |
|
low complexity region
|
2499 |
2516 |
N/A |
INTRINSIC |
|
low complexity region
|
2576 |
2587 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility due to arrested male meiosis and reduced female fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 121 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,278,096 (GRCm39) |
E3092G |
probably damaging |
Het |
| Abhd12b |
C |
G |
12: 70,215,838 (GRCm39) |
S170C |
probably damaging |
Het |
| Abtb2 |
A |
T |
2: 103,547,644 (GRCm39) |
D1006V |
probably benign |
Het |
| Abtb3 |
A |
C |
10: 85,490,414 (GRCm39) |
I1027L |
probably damaging |
Het |
| Adgrl1 |
A |
G |
8: 84,662,202 (GRCm39) |
H1021R |
probably benign |
Het |
| Ago3 |
A |
T |
4: 126,241,665 (GRCm39) |
|
probably null |
Het |
| Ahnak |
A |
G |
19: 8,989,863 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
CA |
C |
12: 52,934,406 (GRCm39) |
|
probably null |
Het |
| Amotl2 |
T |
G |
9: 102,597,322 (GRCm39) |
|
probably null |
Het |
| Ankrd34b |
T |
A |
13: 92,574,813 (GRCm39) |
I15N |
probably damaging |
Het |
| Ap3d1 |
C |
T |
10: 80,557,420 (GRCm39) |
|
probably null |
Het |
| Appl2 |
A |
T |
10: 83,436,855 (GRCm39) |
D635E |
probably damaging |
Het |
| Arid1b |
C |
T |
17: 5,389,496 (GRCm39) |
P1681S |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,440,843 (GRCm39) |
M496T |
probably benign |
Het |
| Atp2c2 |
A |
G |
8: 120,475,891 (GRCm39) |
K595E |
probably damaging |
Het |
| Atpaf2 |
T |
C |
11: 60,295,238 (GRCm39) |
H204R |
probably damaging |
Het |
| Atr |
G |
A |
9: 95,744,850 (GRCm39) |
V56I |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,991,006 (GRCm39) |
T183I |
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,098,203 (GRCm39) |
D965G |
possibly damaging |
Het |
| Ccdc171 |
A |
T |
4: 83,599,253 (GRCm39) |
E689D |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,503,613 (GRCm39) |
Q346L |
probably benign |
Het |
| Cert1 |
T |
C |
13: 96,748,773 (GRCm39) |
V281A |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,134,184 (GRCm39) |
M721K |
possibly damaging |
Het |
| Col22a1 |
T |
A |
15: 71,673,774 (GRCm39) |
T981S |
unknown |
Het |
| Cpox |
G |
A |
16: 58,492,986 (GRCm39) |
A207T |
probably damaging |
Het |
| Cym |
G |
A |
3: 107,123,413 (GRCm39) |
T160I |
possibly damaging |
Het |
| D130043K22Rik |
T |
C |
13: 25,062,023 (GRCm39) |
I664T |
probably damaging |
Het |
| Ddx4 |
C |
T |
13: 112,750,230 (GRCm39) |
|
probably null |
Het |
| Ddx4 |
A |
T |
13: 112,787,894 (GRCm39) |
V15E |
probably benign |
Het |
| Depdc1a |
G |
A |
3: 159,232,273 (GRCm39) |
E675K |
probably damaging |
Het |
| Dglucy |
A |
T |
12: 100,816,602 (GRCm39) |
M415L |
probably benign |
Het |
| Dlg4 |
C |
T |
11: 69,917,780 (GRCm39) |
P21L |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 49,996,059 (GRCm39) |
N395I |
probably damaging |
Het |
| Dzank1 |
A |
T |
2: 144,346,319 (GRCm39) |
C249S |
probably damaging |
Het |
| Efnb2 |
A |
T |
8: 8,673,104 (GRCm39) |
|
probably null |
Het |
| Ercc6l2 |
T |
G |
13: 63,982,552 (GRCm39) |
I244S |
probably damaging |
Het |
| Ewsr1 |
A |
T |
11: 5,020,423 (GRCm39) |
M584K |
unknown |
Het |
| Fam193b |
A |
G |
13: 55,691,284 (GRCm39) |
S197P |
probably damaging |
Het |
| Fanca |
A |
G |
8: 124,014,941 (GRCm39) |
V689A |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 122,279,178 (GRCm39) |
Y436* |
probably null |
Het |
| Fbxo31 |
A |
G |
8: 122,279,180 (GRCm39) |
Y436H |
probably damaging |
Het |
| Fcna |
T |
A |
2: 25,515,338 (GRCm39) |
D215V |
probably damaging |
Het |
| Foxj3 |
A |
T |
4: 119,478,857 (GRCm39) |
S438C |
unknown |
Het |
| Gcm2 |
T |
C |
13: 41,256,970 (GRCm39) |
K260E |
possibly damaging |
Het |
| Gcnt4 |
A |
T |
13: 97,083,914 (GRCm39) |
L403F |
possibly damaging |
Het |
| Gdf10 |
A |
G |
14: 33,653,870 (GRCm39) |
T126A |
probably benign |
Het |
| Ggcx |
A |
G |
6: 72,405,875 (GRCm39) |
K569E |
probably benign |
Het |
| Gm10250 |
C |
T |
15: 5,150,578 (GRCm39) |
|
probably benign |
Het |
| Gpnmb |
G |
T |
6: 49,022,417 (GRCm39) |
|
probably null |
Het |
| Ifi44 |
G |
A |
3: 151,451,229 (GRCm39) |
P241S |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,265,184 (GRCm39) |
T1011A |
probably benign |
Het |
| Jag2 |
A |
T |
12: 112,877,869 (GRCm39) |
S595T |
probably benign |
Het |
| Kif5a |
T |
A |
10: 127,066,823 (GRCm39) |
Q960L |
probably benign |
Het |
| Kifc2 |
A |
G |
15: 76,548,548 (GRCm39) |
E430G |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,544,627 (GRCm39) |
C323* |
probably null |
Het |
| Lgsn |
T |
C |
1: 31,242,823 (GRCm39) |
Y302H |
probably benign |
Het |
| Lmbrd1 |
G |
A |
1: 24,784,056 (GRCm39) |
|
probably null |
Het |
| Lrpap1 |
A |
G |
5: 35,256,622 (GRCm39) |
V120A |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 140,261,858 (GRCm39) |
D46E |
possibly damaging |
Het |
| Mbd4 |
C |
A |
6: 115,822,283 (GRCm39) |
R63L |
possibly damaging |
Het |
| Mfsd10 |
T |
C |
5: 34,792,293 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
G |
T |
4: 155,744,229 (GRCm39) |
S144R |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,401,453 (GRCm39) |
C566* |
probably null |
Het |
| Ndufs1 |
C |
A |
1: 63,200,108 (GRCm39) |
G268V |
probably damaging |
Het |
| Nfs1 |
A |
G |
2: 155,976,369 (GRCm39) |
V175A |
possibly damaging |
Het |
| Ngb |
G |
A |
12: 87,146,999 (GRCm39) |
H73Y |
probably benign |
Het |
| Npepps |
G |
A |
11: 97,117,652 (GRCm39) |
T549I |
probably damaging |
Het |
| Nr1h2 |
A |
G |
7: 44,199,923 (GRCm39) |
V329A |
possibly damaging |
Het |
| Nsun6 |
T |
C |
2: 15,041,137 (GRCm39) |
I151M |
possibly damaging |
Het |
| Ofcc1 |
T |
C |
13: 40,155,368 (GRCm39) |
|
probably null |
Het |
| Or1e31 |
C |
T |
11: 73,689,665 (GRCm39) |
C306Y |
probably benign |
Het |
| Or2y16 |
T |
A |
11: 49,334,696 (GRCm39) |
F6Y |
probably benign |
Het |
| Or2z8 |
A |
G |
8: 72,811,938 (GRCm39) |
N138S |
probably benign |
Het |
| Or51h1 |
T |
A |
7: 102,308,041 (GRCm39) |
N4K |
possibly damaging |
Het |
| Or5an1c |
C |
T |
19: 12,218,936 (GRCm39) |
V30I |
probably benign |
Het |
| Or8b46 |
A |
G |
9: 38,450,371 (GRCm39) |
Y60C |
probably damaging |
Het |
| Parp6 |
A |
G |
9: 59,542,267 (GRCm39) |
|
probably null |
Het |
| Pcnt |
C |
A |
10: 76,245,411 (GRCm39) |
R1075S |
possibly damaging |
Het |
| Pla2g4f |
T |
C |
2: 120,133,757 (GRCm39) |
E548G |
probably damaging |
Het |
| Polrmt |
G |
T |
10: 79,575,357 (GRCm39) |
H725N |
probably benign |
Het |
| Pou2f3 |
T |
C |
9: 43,051,153 (GRCm39) |
T178A |
probably damaging |
Het |
| Prtn3 |
C |
A |
10: 79,717,899 (GRCm39) |
P169H |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 76,009,769 (GRCm39) |
I764T |
probably benign |
Het |
| Ptprh |
A |
T |
7: 4,572,576 (GRCm39) |
H467Q |
probably benign |
Het |
| Raph1 |
A |
T |
1: 60,528,273 (GRCm39) |
I996N |
probably damaging |
Het |
| Rasa4 |
G |
A |
5: 136,120,083 (GRCm39) |
W53* |
probably null |
Het |
| Rasgrp1 |
C |
T |
2: 117,115,356 (GRCm39) |
R744Q |
probably benign |
Het |
| Rmnd5a |
T |
C |
6: 71,390,333 (GRCm39) |
E141G |
probably damaging |
Het |
| Rps12 |
T |
C |
10: 23,662,688 (GRCm39) |
I51M |
possibly damaging |
Het |
| Scn10a |
T |
G |
9: 119,451,976 (GRCm39) |
S1316R |
possibly damaging |
Het |
| Sdhb |
A |
G |
4: 140,704,777 (GRCm39) |
H246R |
possibly damaging |
Het |
| Siglec1 |
A |
C |
2: 130,917,843 (GRCm39) |
S1011R |
probably damaging |
Het |
| Sin3b |
A |
C |
8: 73,452,271 (GRCm39) |
I126L |
probably benign |
Het |
| Slc11a1 |
T |
G |
1: 74,423,247 (GRCm39) |
L366R |
probably damaging |
Het |
| Slc12a1 |
C |
T |
2: 125,002,999 (GRCm39) |
R177* |
probably null |
Het |
| Slc30a1 |
A |
C |
1: 191,641,160 (GRCm39) |
K269Q |
probably benign |
Het |
| Slco1a5 |
T |
C |
6: 142,194,533 (GRCm39) |
Y370C |
possibly damaging |
Het |
| Slf2 |
T |
A |
19: 44,923,364 (GRCm39) |
|
probably null |
Het |
| Sltm |
A |
G |
9: 70,496,339 (GRCm39) |
H958R |
probably damaging |
Het |
| Snrnp40 |
A |
G |
4: 130,256,549 (GRCm39) |
I91M |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,058,232 (GRCm39) |
Q1900L |
probably benign |
Het |
| Srgn |
C |
T |
10: 62,333,631 (GRCm39) |
E49K |
possibly damaging |
Het |
| Ssu2 |
A |
C |
6: 112,353,411 (GRCm39) |
C238G |
probably damaging |
Het |
| Terf2 |
G |
T |
8: 107,803,307 (GRCm39) |
H425Q |
probably benign |
Het |
| Thra |
G |
A |
11: 98,646,990 (GRCm39) |
S37N |
probably benign |
Het |
| Toporsl |
A |
G |
4: 52,610,845 (GRCm39) |
D246G |
probably damaging |
Het |
| Ubap2l |
G |
A |
3: 89,928,210 (GRCm39) |
T553M |
probably damaging |
Het |
| Usp10 |
A |
G |
8: 120,667,930 (GRCm39) |
Y77C |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,625,813 (GRCm39) |
T123A |
probably damaging |
Het |
| Vmn1r204 |
T |
G |
13: 22,740,867 (GRCm39) |
F166C |
probably benign |
Het |
| Vmn2r14 |
T |
C |
5: 109,369,370 (GRCm39) |
I68V |
probably benign |
Het |
| Wls |
C |
T |
3: 159,603,082 (GRCm39) |
T165I |
probably benign |
Het |
| Wsb1 |
A |
G |
11: 79,131,199 (GRCm39) |
M399T |
probably benign |
Het |
| Xbp1 |
C |
T |
11: 5,471,167 (GRCm39) |
T58M |
probably damaging |
Het |
| Zbtb46 |
A |
T |
2: 181,032,929 (GRCm39) |
D577E |
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,382,991 (GRCm39) |
D718G |
probably damaging |
Het |
| Zfp408 |
A |
T |
2: 91,475,369 (GRCm39) |
V595E |
possibly damaging |
Het |
| Zfp493 |
T |
A |
13: 67,934,322 (GRCm39) |
W60R |
probably null |
Het |
| Zfp606 |
A |
T |
7: 12,227,932 (GRCm39) |
K626N |
probably damaging |
Het |
| Zfp820 |
A |
T |
17: 22,037,966 (GRCm39) |
L454Q |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,830,169 (GRCm39) |
I515V |
probably benign |
Het |
|
| Other mutations in Setx |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00688:Setx
|
APN |
2 |
29,038,457 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL00806:Setx
|
APN |
2 |
29,017,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01346:Setx
|
APN |
2 |
29,034,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01623:Setx
|
APN |
2 |
29,053,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02351:Setx
|
APN |
2 |
29,036,976 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02358:Setx
|
APN |
2 |
29,036,976 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02378:Setx
|
APN |
2 |
29,063,738 (GRCm39) |
splice site |
probably benign |
|
|
IGL02388:Setx
|
APN |
2 |
29,063,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02408:Setx
|
APN |
2 |
29,023,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02425:Setx
|
APN |
2 |
29,038,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03023:Setx
|
APN |
2 |
29,035,914 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03351:Setx
|
APN |
2 |
29,051,811 (GRCm39) |
missense |
probably benign |
0.25 |
|
Addison
|
UTSW |
2 |
29,048,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
dallas
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
Denton
|
UTSW |
2 |
29,035,072 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
doggie
|
UTSW |
2 |
29,054,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Irving
|
UTSW |
2 |
29,029,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
G1Funyon:Setx
|
UTSW |
2 |
29,035,702 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03014:Setx
|
UTSW |
2 |
29,029,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4403001:Setx
|
UTSW |
2 |
29,023,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0027:Setx
|
UTSW |
2 |
29,029,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0031:Setx
|
UTSW |
2 |
29,066,941 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0070:Setx
|
UTSW |
2 |
29,051,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0070:Setx
|
UTSW |
2 |
29,051,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0092:Setx
|
UTSW |
2 |
29,036,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0193:Setx
|
UTSW |
2 |
29,069,685 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0281:Setx
|
UTSW |
2 |
29,069,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0401:Setx
|
UTSW |
2 |
29,056,301 (GRCm39) |
nonsense |
probably null |
|
|
R0413:Setx
|
UTSW |
2 |
29,029,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0517:Setx
|
UTSW |
2 |
29,047,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0536:Setx
|
UTSW |
2 |
29,048,260 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0617:Setx
|
UTSW |
2 |
29,036,819 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1183:Setx
|
UTSW |
2 |
29,070,104 (GRCm39) |
missense |
probably benign |
|
|
R1331:Setx
|
UTSW |
2 |
29,069,698 (GRCm39) |
missense |
probably benign |
|
|
R1465:Setx
|
UTSW |
2 |
29,030,401 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1465:Setx
|
UTSW |
2 |
29,030,401 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1467:Setx
|
UTSW |
2 |
29,048,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Setx
|
UTSW |
2 |
29,048,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1482:Setx
|
UTSW |
2 |
29,053,004 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1599:Setx
|
UTSW |
2 |
29,030,385 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1663:Setx
|
UTSW |
2 |
29,016,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Setx
|
UTSW |
2 |
29,053,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2117:Setx
|
UTSW |
2 |
29,020,313 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2207:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R2221:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R2223:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R2223:Setx
|
UTSW |
2 |
29,038,549 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2273:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R2274:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R2275:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R2309:Setx
|
UTSW |
2 |
29,048,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2328:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R2328:Setx
|
UTSW |
2 |
29,044,072 (GRCm39) |
frame shift |
probably null |
|
|
R2329:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R2331:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R2332:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R2429:Setx
|
UTSW |
2 |
29,069,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2438:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R2439:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R2496:Setx
|
UTSW |
2 |
29,034,813 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2858:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R2859:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R2884:Setx
|
UTSW |
2 |
29,038,637 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2885:Setx
|
UTSW |
2 |
29,038,637 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2886:Setx
|
UTSW |
2 |
29,038,637 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2915:Setx
|
UTSW |
2 |
29,062,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2921:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R2921:Setx
|
UTSW |
2 |
29,044,072 (GRCm39) |
small deletion |
probably benign |
|
|
R2923:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R3426:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R3609:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R3610:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R3731:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R3813:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R3835:Setx
|
UTSW |
2 |
29,035,072 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3871:Setx
|
UTSW |
2 |
29,035,753 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4013:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R4014:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R4015:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R4017:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R4246:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R4248:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R4297:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R4298:Setx
|
UTSW |
2 |
29,044,073 (GRCm39) |
frame shift |
probably null |
|
|
R4539:Setx
|
UTSW |
2 |
29,069,760 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4590:Setx
|
UTSW |
2 |
29,034,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4632:Setx
|
UTSW |
2 |
29,038,627 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4801:Setx
|
UTSW |
2 |
29,036,385 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4802:Setx
|
UTSW |
2 |
29,036,385 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4975:Setx
|
UTSW |
2 |
29,054,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5040:Setx
|
UTSW |
2 |
29,029,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5133:Setx
|
UTSW |
2 |
29,070,093 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5208:Setx
|
UTSW |
2 |
29,056,379 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5237:Setx
|
UTSW |
2 |
29,036,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5248:Setx
|
UTSW |
2 |
29,038,430 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5288:Setx
|
UTSW |
2 |
29,024,045 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5385:Setx
|
UTSW |
2 |
29,024,045 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5387:Setx
|
UTSW |
2 |
29,037,606 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5407:Setx
|
UTSW |
2 |
29,035,486 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5685:Setx
|
UTSW |
2 |
29,061,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6110:Setx
|
UTSW |
2 |
29,030,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6136:Setx
|
UTSW |
2 |
29,038,039 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6310:Setx
|
UTSW |
2 |
29,066,947 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6328:Setx
|
UTSW |
2 |
29,064,474 (GRCm39) |
intron |
probably benign |
|
|
R6358:Setx
|
UTSW |
2 |
29,061,360 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6384:Setx
|
UTSW |
2 |
29,063,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6400:Setx
|
UTSW |
2 |
29,020,286 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6572:Setx
|
UTSW |
2 |
29,063,706 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6662:Setx
|
UTSW |
2 |
29,048,126 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6898:Setx
|
UTSW |
2 |
29,038,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7188:Setx
|
UTSW |
2 |
29,038,184 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7332:Setx
|
UTSW |
2 |
29,036,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7357:Setx
|
UTSW |
2 |
29,020,313 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7556:Setx
|
UTSW |
2 |
29,036,505 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7646:Setx
|
UTSW |
2 |
29,067,561 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7802:Setx
|
UTSW |
2 |
29,037,033 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7810:Setx
|
UTSW |
2 |
29,038,663 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7831:Setx
|
UTSW |
2 |
29,069,866 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7831:Setx
|
UTSW |
2 |
29,047,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7843:Setx
|
UTSW |
2 |
29,063,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7850:Setx
|
UTSW |
2 |
29,037,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7858:Setx
|
UTSW |
2 |
29,051,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8121:Setx
|
UTSW |
2 |
29,035,046 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8284:Setx
|
UTSW |
2 |
29,035,348 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8301:Setx
|
UTSW |
2 |
29,035,702 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8752:Setx
|
UTSW |
2 |
29,048,992 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8785:Setx
|
UTSW |
2 |
29,035,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8871:Setx
|
UTSW |
2 |
29,038,114 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8927:Setx
|
UTSW |
2 |
29,016,971 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8928:Setx
|
UTSW |
2 |
29,016,971 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9182:Setx
|
UTSW |
2 |
29,061,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9334:Setx
|
UTSW |
2 |
29,044,032 (GRCm39) |
nonsense |
probably null |
|
|
R9335:Setx
|
UTSW |
2 |
29,035,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9491:Setx
|
UTSW |
2 |
29,037,835 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9551:Setx
|
UTSW |
2 |
29,020,244 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9627:Setx
|
UTSW |
2 |
29,034,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9688:Setx
|
UTSW |
2 |
29,036,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9689:Setx
|
UTSW |
2 |
29,051,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9747:Setx
|
UTSW |
2 |
29,064,377 (GRCm39) |
nonsense |
probably null |
|
|
R9780:Setx
|
UTSW |
2 |
29,016,999 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
X0066:Setx
|
UTSW |
2 |
29,037,891 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGAGAAGACTTCTTAATCATCTG -3'
(R):5'- TCACCATATCATCAAAATGTGGCTCC -3'
Sequencing Primer
(F):5'- CTGGTTTTCAGAGGGACTTCCAAAAC -3'
(R):5'- CAAAATGTGGCTCCGGTTCTAAC -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation