Incidental Mutation 'R5385:Setx'
| ID |
425034 |
| 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 # |
R5385 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29014193-29072483 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 29024045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061578]
[ENSMUST00000061578]
[ENSMUST00000129544]
|
| AlphaFold |
A2AKX3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061578
|
| SMART Domains |
Protein: ENSMUSP00000051492
Gene: ENSMUSG00000043535
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000061578
|
| SMART Domains |
Protein: ENSMUSP00000051492
Gene: ENSMUSG00000043535
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129544
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154910
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 129 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17a |
T |
C |
10: 80,421,446 (GRCm39) |
T175A |
probably benign |
Het |
| Adam23 |
A |
G |
1: 63,590,970 (GRCm39) |
D479G |
possibly damaging |
Het |
| Adgrl3 |
T |
G |
5: 81,874,648 (GRCm39) |
Y1050D |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,411,349 (GRCm39) |
I103T |
probably benign |
Het |
| Ajuba |
T |
C |
14: 54,807,855 (GRCm39) |
Y459C |
probably damaging |
Het |
| Aldh7a1 |
T |
A |
18: 56,667,325 (GRCm39) |
N316Y |
possibly damaging |
Het |
| Alyref2 |
A |
G |
1: 171,331,271 (GRCm39) |
N16S |
probably benign |
Het |
| Ankhd1 |
A |
G |
18: 36,724,548 (GRCm39) |
E402G |
probably damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,639,340 (GRCm39) |
|
probably benign |
Het |
| Ap2b1 |
T |
C |
11: 83,233,427 (GRCm39) |
V480A |
probably damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,235,848 (GRCm39) |
R741G |
probably benign |
Het |
| Canx |
A |
G |
11: 50,192,639 (GRCm39) |
L325P |
probably damaging |
Het |
| Ccpg1 |
G |
A |
9: 72,920,326 (GRCm39) |
S647N |
probably benign |
Het |
| Cdc37l1 |
T |
G |
19: 28,989,343 (GRCm39) |
S267A |
possibly damaging |
Het |
| Cert1 |
A |
G |
13: 96,765,575 (GRCm39) |
T447A |
possibly damaging |
Het |
| Ces1f |
A |
T |
8: 93,992,388 (GRCm39) |
C354* |
probably null |
Het |
| Cpne1 |
A |
T |
2: 155,916,284 (GRCm39) |
V350D |
probably damaging |
Het |
| Ctdsp2 |
A |
G |
10: 126,832,326 (GRCm39) |
T262A |
probably benign |
Het |
| Cypt4 |
A |
G |
9: 24,536,596 (GRCm39) |
K29E |
possibly damaging |
Het |
| Dlg2 |
T |
C |
7: 91,737,784 (GRCm39) |
V422A |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,286,041 (GRCm39) |
S2715P |
probably benign |
Het |
| Dnah3 |
T |
A |
7: 119,524,126 (GRCm39) |
K3953N |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,829,776 (GRCm39) |
V647A |
probably damaging |
Het |
| Duox2 |
A |
G |
2: 122,125,617 (GRCm39) |
V330A |
probably benign |
Het |
| Dusp8 |
T |
A |
7: 141,643,730 (GRCm39) |
Q61L |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,016,791 (GRCm39) |
D3573G |
probably damaging |
Het |
| Ears2 |
G |
C |
7: 121,643,600 (GRCm39) |
T426S |
probably benign |
Het |
| Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
| Fam91a1 |
G |
A |
15: 58,320,243 (GRCm39) |
S645N |
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,833,971 (GRCm39) |
L4207Q |
possibly damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,674,042 (GRCm39) |
M13T |
probably benign |
Het |
| Fbxo48 |
G |
T |
11: 16,904,329 (GRCm39) |
L160F |
possibly damaging |
Het |
| Fer1l4 |
G |
A |
2: 155,879,286 (GRCm39) |
Q906* |
probably null |
Het |
| Fpr2 |
C |
A |
17: 18,113,309 (GRCm39) |
H102N |
probably benign |
Het |
| Gm10134 |
T |
A |
2: 28,396,372 (GRCm39) |
|
probably benign |
Het |
| Gpr107 |
A |
G |
2: 31,104,263 (GRCm39) |
T523A |
probably benign |
Het |
| Grin3a |
G |
A |
4: 49,719,313 (GRCm39) |
P811L |
probably damaging |
Het |
| Hivep1 |
A |
T |
13: 42,317,871 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
A |
G |
2: 31,350,333 (GRCm39) |
T5077A |
probably benign |
Het |
| Hpse |
C |
T |
5: 100,856,590 (GRCm39) |
W136* |
probably null |
Het |
| Ifitm3 |
T |
C |
7: 140,590,554 (GRCm39) |
N2S |
probably benign |
Het |
| Ifnar2 |
T |
A |
16: 91,201,086 (GRCm39) |
D442E |
possibly damaging |
Het |
| Jade1 |
T |
A |
3: 41,546,137 (GRCm39) |
I54N |
probably damaging |
Het |
| Jag1 |
A |
T |
2: 136,937,464 (GRCm39) |
H303Q |
possibly damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,643,076 (GRCm39) |
D397G |
probably damaging |
Het |
| Kcnj1 |
A |
G |
9: 32,308,019 (GRCm39) |
R148G |
probably damaging |
Het |
| Lct |
T |
G |
1: 128,239,354 (GRCm39) |
K277N |
possibly damaging |
Het |
| Loxl3 |
A |
G |
6: 83,027,593 (GRCm39) |
M712V |
probably damaging |
Het |
| Ly75 |
A |
G |
2: 60,133,985 (GRCm39) |
C1547R |
probably damaging |
Het |
| Marcks |
A |
G |
10: 37,014,453 (GRCm39) |
S27P |
probably damaging |
Het |
| Mef2c |
A |
G |
13: 83,810,532 (GRCm39) |
T347A |
probably benign |
Het |
| Mmp3 |
C |
T |
9: 7,451,759 (GRCm39) |
R366* |
probably null |
Het |
| Mrgprx2 |
T |
C |
7: 48,132,753 (GRCm39) |
T22A |
probably benign |
Het |
| Msc |
C |
A |
1: 14,825,644 (GRCm39) |
R110L |
probably damaging |
Het |
| Mtcl3 |
A |
G |
10: 29,072,766 (GRCm39) |
D686G |
probably benign |
Het |
| Myh11 |
A |
T |
16: 14,025,872 (GRCm39) |
V1366D |
possibly damaging |
Het |
| Ncf1 |
A |
G |
5: 134,250,659 (GRCm39) |
L373P |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,079,873 (GRCm39) |
I85N |
probably damaging |
Het |
| Nfkb1 |
A |
G |
3: 135,318,303 (GRCm39) |
V310A |
possibly damaging |
Het |
| Nop2 |
T |
C |
6: 125,121,324 (GRCm39) |
V702A |
probably benign |
Het |
| Nudt12 |
A |
G |
17: 59,310,434 (GRCm39) |
W390R |
probably damaging |
Het |
| Or10ag53 |
C |
T |
2: 87,082,827 (GRCm39) |
P182L |
probably benign |
Het |
| Or10v9 |
T |
A |
19: 11,832,541 (GRCm39) |
I259F |
probably damaging |
Het |
| Or11g24 |
T |
A |
14: 50,662,846 (GRCm39) |
V290E |
possibly damaging |
Het |
| Or1af1 |
G |
T |
2: 37,109,599 (GRCm39) |
A33S |
possibly damaging |
Het |
| Or51e1 |
T |
C |
7: 102,358,553 (GRCm39) |
L29P |
probably damaging |
Het |
| Or6c208 |
A |
G |
10: 129,223,633 (GRCm39) |
I44V |
probably benign |
Het |
| Or6n2 |
A |
T |
1: 173,897,036 (GRCm39) |
K57N |
probably benign |
Het |
| Or8a1b |
A |
T |
9: 37,623,317 (GRCm39) |
V86E |
probably damaging |
Het |
| Or8c11 |
A |
T |
9: 38,289,281 (GRCm39) |
I29F |
probably benign |
Het |
| Or8g2b |
A |
G |
9: 39,751,126 (GRCm39) |
Y132C |
possibly damaging |
Het |
| Otub2 |
G |
A |
12: 103,359,055 (GRCm39) |
|
probably benign |
Het |
| Pck2 |
A |
G |
14: 55,782,688 (GRCm39) |
E339G |
probably damaging |
Het |
| Pdcd7 |
G |
A |
9: 65,265,974 (GRCm39) |
W477* |
probably null |
Het |
| Pdpk1 |
G |
A |
17: 24,317,114 (GRCm39) |
Q250* |
probably null |
Het |
| Pigb |
T |
A |
9: 72,946,827 (GRCm39) |
H16L |
probably benign |
Het |
| Pitpnm1 |
T |
C |
19: 4,153,435 (GRCm39) |
F197S |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,864,894 (GRCm39) |
V94A |
probably benign |
Het |
| Pnpla7 |
C |
A |
2: 24,931,031 (GRCm39) |
P882Q |
probably damaging |
Het |
| Pold2 |
A |
G |
11: 5,826,760 (GRCm39) |
L58P |
probably damaging |
Het |
| Pomt1 |
C |
G |
2: 32,134,311 (GRCm39) |
Y277* |
probably null |
Het |
| Prex2 |
A |
G |
1: 11,210,204 (GRCm39) |
D548G |
probably damaging |
Het |
| Prkra |
T |
G |
2: 76,469,622 (GRCm39) |
T146P |
probably damaging |
Het |
| Prss51 |
T |
A |
14: 64,334,543 (GRCm39) |
V108E |
probably damaging |
Het |
| Rai2 |
A |
G |
X: 160,561,636 (GRCm39) |
N363S |
probably benign |
Het |
| Ranbp17 |
A |
T |
11: 33,169,241 (GRCm39) |
V991D |
possibly damaging |
Het |
| Riox2 |
T |
A |
16: 59,306,979 (GRCm39) |
M290K |
probably benign |
Het |
| Rnpepl1 |
T |
A |
1: 92,844,914 (GRCm39) |
L402Q |
probably damaging |
Het |
| S1pr2 |
T |
C |
9: 20,878,890 (GRCm39) |
T313A |
probably benign |
Het |
| Sesn2 |
A |
G |
4: 132,226,575 (GRCm39) |
I173T |
probably damaging |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Sgsm3 |
T |
C |
15: 80,892,200 (GRCm39) |
V256A |
probably benign |
Het |
| Shroom4 |
T |
A |
X: 6,497,523 (GRCm39) |
C894* |
probably null |
Het |
| Slc13a5 |
T |
A |
11: 72,149,903 (GRCm39) |
E159D |
probably benign |
Het |
| Slc16a7 |
A |
G |
10: 125,130,473 (GRCm39) |
Y71H |
possibly damaging |
Het |
| Slc28a2b |
C |
A |
2: 122,353,259 (GRCm39) |
L480I |
probably benign |
Het |
| Slc4a7 |
T |
C |
14: 14,773,345 (GRCm38) |
F772L |
possibly damaging |
Het |
| Snapc4 |
A |
G |
2: 26,264,515 (GRCm39) |
S275P |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,968,580 (GRCm39) |
T558A |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,439,187 (GRCm39) |
P1612S |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,531,111 (GRCm39) |
E2456G |
probably damaging |
Het |
| Stx1b |
A |
T |
7: 127,414,575 (GRCm39) |
D16E |
probably benign |
Het |
| Supv3l1 |
A |
T |
10: 62,266,375 (GRCm39) |
N600K |
possibly damaging |
Het |
| Syne1 |
C |
T |
10: 4,991,494 (GRCm39) |
V557I |
probably benign |
Het |
| Tanc2 |
T |
A |
11: 105,667,672 (GRCm39) |
D84E |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,105,774 (GRCm39) |
L82Q |
probably damaging |
Het |
| Tfip11 |
T |
C |
5: 112,479,086 (GRCm39) |
|
probably null |
Het |
| Thtpa |
G |
T |
14: 55,333,290 (GRCm39) |
R125L |
probably damaging |
Het |
| Tm9sf1 |
C |
T |
14: 55,880,301 (GRCm39) |
G32D |
possibly damaging |
Het |
| Tmcc3 |
A |
T |
10: 94,415,015 (GRCm39) |
N239I |
probably damaging |
Het |
| Tpd52 |
A |
T |
3: 8,996,255 (GRCm39) |
|
probably null |
Het |
| Traf6 |
T |
A |
2: 101,515,100 (GRCm39) |
C85* |
probably null |
Het |
| Trim68 |
T |
G |
7: 102,327,990 (GRCm39) |
D321A |
probably damaging |
Het |
| Trmt6 |
C |
A |
2: 132,650,703 (GRCm39) |
A302S |
probably benign |
Het |
| Ttbk1 |
T |
C |
17: 46,758,558 (GRCm39) |
D692G |
probably benign |
Het |
| Ttc17 |
A |
T |
2: 94,133,985 (GRCm39) |
W1067R |
probably damaging |
Het |
| Ttc6 |
T |
A |
12: 57,689,821 (GRCm39) |
|
probably null |
Het |
| Tut7 |
A |
T |
13: 59,937,660 (GRCm39) |
|
probably null |
Het |
| Txnrd2 |
T |
G |
16: 18,296,442 (GRCm39) |
I468S |
probably damaging |
Het |
| Ube2b |
A |
T |
11: 51,879,471 (GRCm39) |
Y100N |
probably damaging |
Het |
| Ucn3 |
A |
T |
13: 3,991,474 (GRCm39) |
F59L |
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,223,493 (GRCm39) |
Y599H |
probably damaging |
Het |
| Ulk3 |
T |
A |
9: 57,498,023 (GRCm39) |
I108N |
possibly damaging |
Het |
| Vav3 |
A |
G |
3: 109,434,791 (GRCm39) |
M441V |
possibly damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,008,819 (GRCm39) |
D499E |
possibly damaging |
Het |
| Vmn2r118 |
C |
T |
17: 55,918,565 (GRCm39) |
G109D |
probably benign |
Het |
| Vmn2r5 |
T |
A |
3: 64,416,931 (GRCm39) |
M76L |
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,389,365 (GRCm39) |
K68E |
possibly damaging |
Het |
| Zmiz1 |
A |
T |
14: 25,650,237 (GRCm39) |
Y459F |
probably damaging |
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 |
|
R4782:Setx
|
UTSW |
2 |
29,034,058 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
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'- CCATGCTACTGAGATATGTTGGAAAT -3'
(R):5'- TGCCCTCTTAAATTCACGACAC -3'
Sequencing Primer
(F):5'- TTAAACTCTGTAGACCAGGCTGGAC -3'
(R):5'- CGACACTCCCAATAATATACTGGTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation