Incidental Mutation 'R0617:Setx'
| ID |
58385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setx
|
| Ensembl Gene |
ENSMUSG00000043535 |
| Gene Name |
senataxin |
| Synonyms |
Als4, A930037J23Rik |
| MMRRC Submission |
038806-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0617 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29014193-29072483 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29036819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 1101
(H1101Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061578]
|
| AlphaFold |
A2AKX3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061578
AA Change: H1101Q
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000051492
Gene: ENSMUSG00000043535
AA Change: H1101Q
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
98% (130/133) |
| 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: 130 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930555F03Rik |
A |
T |
8: 49,953,527 (GRCm39) |
|
noncoding transcript |
Het |
| A630073D07Rik |
T |
C |
6: 132,603,700 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
G |
A |
7: 120,032,834 (GRCm39) |
|
probably benign |
Het |
| Abca5 |
A |
T |
11: 110,170,515 (GRCm39) |
D1265E |
probably damaging |
Het |
| Abcf1 |
C |
T |
17: 36,272,079 (GRCm39) |
V312I |
probably benign |
Het |
| Abhd12 |
T |
A |
2: 150,688,285 (GRCm39) |
|
probably null |
Het |
| Adam23 |
A |
G |
1: 63,582,306 (GRCm39) |
H318R |
probably benign |
Het |
| Adcy2 |
T |
A |
13: 68,826,725 (GRCm39) |
K660* |
probably null |
Het |
| Adgrf3 |
T |
C |
5: 30,400,078 (GRCm39) |
T972A |
probably benign |
Het |
| Adipoq |
T |
A |
16: 22,974,160 (GRCm39) |
D62E |
probably damaging |
Het |
| Alk |
G |
T |
17: 72,910,578 (GRCm39) |
P43T |
probably damaging |
Het |
| Arap2 |
AT |
ATT |
5: 62,807,250 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
G |
T |
13: 98,106,863 (GRCm39) |
T687K |
probably benign |
Het |
| Arrb1 |
T |
C |
7: 99,243,884 (GRCm39) |
L278P |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 4,987,401 (GRCm39) |
D76E |
probably benign |
Het |
| Atm |
A |
T |
9: 53,370,241 (GRCm39) |
Y2290* |
probably null |
Het |
| Atrn |
T |
A |
2: 130,837,005 (GRCm39) |
|
probably null |
Het |
| Bpifb1 |
A |
G |
2: 154,054,867 (GRCm39) |
D253G |
possibly damaging |
Het |
| Bpifb9b |
C |
T |
2: 154,161,545 (GRCm39) |
T559M |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,984,439 (GRCm39) |
E3205G |
unknown |
Het |
| Cacna1c |
T |
C |
6: 118,579,174 (GRCm39) |
Y1599C |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,133,630 (GRCm39) |
D590G |
probably damaging |
Het |
| Ccdc68 |
A |
G |
18: 70,079,623 (GRCm39) |
|
probably null |
Het |
| Ccdc97 |
G |
A |
7: 25,413,845 (GRCm39) |
R279C |
probably damaging |
Het |
| Ccm2l |
A |
G |
2: 152,912,820 (GRCm39) |
T120A |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,665,512 (GRCm39) |
|
probably benign |
Het |
| Cfh |
A |
G |
1: 140,028,621 (GRCm39) |
S1043P |
probably benign |
Het |
| Chil3 |
T |
C |
3: 106,063,072 (GRCm39) |
K173E |
probably benign |
Het |
| Cib2 |
T |
C |
9: 54,461,780 (GRCm39) |
D26G |
possibly damaging |
Het |
| Col24a1 |
T |
C |
3: 145,019,881 (GRCm39) |
V84A |
probably damaging |
Het |
| Csn3 |
T |
C |
5: 88,077,730 (GRCm39) |
Y79H |
probably benign |
Het |
| Ddx47 |
T |
A |
6: 134,994,085 (GRCm39) |
V149E |
probably damaging |
Het |
| Dennd5b |
A |
T |
6: 148,934,760 (GRCm39) |
|
probably benign |
Het |
| Desi1 |
T |
C |
15: 81,882,399 (GRCm39) |
N109D |
probably damaging |
Het |
| Fam13c |
T |
C |
10: 70,372,182 (GRCm39) |
|
probably benign |
Het |
| Fam234a |
A |
T |
17: 26,435,591 (GRCm39) |
D264E |
probably benign |
Het |
| Fanca |
A |
G |
8: 124,014,809 (GRCm39) |
F831S |
probably damaging |
Het |
| Fancm |
C |
T |
12: 65,144,091 (GRCm39) |
R518* |
probably null |
Het |
| Fat2 |
A |
G |
11: 55,202,669 (GRCm39) |
V135A |
possibly damaging |
Het |
| Fbxl17 |
A |
C |
17: 63,691,987 (GRCm39) |
F42V |
probably damaging |
Het |
| Fgd3 |
A |
T |
13: 49,418,173 (GRCm39) |
V631E |
possibly damaging |
Het |
| Fhod3 |
G |
A |
18: 25,245,736 (GRCm39) |
|
probably benign |
Het |
| Focad |
T |
C |
4: 88,039,525 (GRCm39) |
|
probably benign |
Het |
| Foxn4 |
C |
A |
5: 114,399,129 (GRCm39) |
|
probably benign |
Het |
| Gm2381 |
A |
T |
7: 42,469,402 (GRCm39) |
C241S |
probably damaging |
Het |
| Gm6483 |
T |
G |
8: 19,743,725 (GRCm39) |
F117V |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,481,295 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,455,027 (GRCm39) |
Q676L |
probably benign |
Het |
| Hipk2 |
G |
A |
6: 38,724,420 (GRCm39) |
R437C |
possibly damaging |
Het |
| Ifnar1 |
T |
C |
16: 91,298,570 (GRCm39) |
Y396H |
probably damaging |
Het |
| Ints5 |
A |
T |
19: 8,873,383 (GRCm39) |
K447N |
probably damaging |
Het |
| Iqsec1 |
T |
C |
6: 90,666,952 (GRCm39) |
Y495C |
probably damaging |
Het |
| Itga5 |
C |
T |
15: 103,264,742 (GRCm39) |
|
probably null |
Het |
| Kcnk4 |
T |
A |
19: 6,905,528 (GRCm39) |
|
probably benign |
Het |
| Kmo |
A |
G |
1: 175,474,756 (GRCm39) |
T174A |
possibly damaging |
Het |
| Krt36 |
T |
C |
11: 99,993,101 (GRCm39) |
D458G |
probably damaging |
Het |
| Krtap16-1 |
G |
T |
11: 99,877,321 (GRCm39) |
P28T |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,552,315 (GRCm39) |
|
probably null |
Het |
| Lrrc9 |
T |
C |
12: 72,529,788 (GRCm39) |
S920P |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,636,481 (GRCm39) |
Y1485F |
probably benign |
Het |
| Mical1 |
C |
T |
10: 41,357,311 (GRCm39) |
A372V |
probably damaging |
Het |
| Ms4a20 |
C |
A |
19: 11,089,764 (GRCm39) |
L40F |
probably damaging |
Het |
| Mtr |
C |
T |
13: 12,236,318 (GRCm39) |
R636Q |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,570,925 (GRCm39) |
T662S |
possibly damaging |
Het |
| Myo10 |
G |
A |
15: 25,738,091 (GRCm39) |
V546M |
probably damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,320,991 (GRCm39) |
W2034* |
probably null |
Het |
| Nhlrc3 |
T |
C |
3: 53,366,044 (GRCm39) |
T150A |
probably damaging |
Het |
| Nicol1 |
T |
C |
5: 34,140,896 (GRCm39) |
|
probably benign |
Het |
| Nkx2-1 |
T |
C |
12: 56,581,640 (GRCm39) |
H69R |
possibly damaging |
Het |
| Nlrp4g |
A |
T |
9: 124,349,540 (GRCm38) |
|
noncoding transcript |
Het |
| Nod2 |
A |
G |
8: 89,379,859 (GRCm39) |
N120S |
probably benign |
Het |
| Nol8 |
T |
C |
13: 49,807,921 (GRCm39) |
F46L |
possibly damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,691,240 (GRCm39) |
D308G |
possibly damaging |
Het |
| Oog3 |
A |
T |
4: 143,886,784 (GRCm39) |
V112D |
probably benign |
Het |
| Or10ag58 |
A |
G |
2: 87,265,005 (GRCm39) |
D58G |
probably damaging |
Het |
| Or4a66 |
A |
G |
2: 88,531,040 (GRCm39) |
V211A |
probably damaging |
Het |
| Or51i1 |
A |
T |
7: 103,671,196 (GRCm39) |
S110T |
probably damaging |
Het |
| Or5af2 |
T |
C |
11: 58,707,975 (GRCm39) |
V47A |
probably damaging |
Het |
| Or5b106 |
T |
C |
19: 13,123,727 (GRCm39) |
M99V |
probably benign |
Het |
| Or5b120 |
C |
A |
19: 13,479,900 (GRCm39) |
N64K |
probably damaging |
Het |
| Or5m9b |
A |
G |
2: 85,905,485 (GRCm39) |
M134V |
probably benign |
Het |
| Or9s18 |
A |
T |
13: 65,300,692 (GRCm39) |
Y218F |
possibly damaging |
Het |
| Pakap |
T |
C |
4: 57,829,434 (GRCm39) |
|
probably benign |
Het |
| Pcdhb8 |
C |
T |
18: 37,490,100 (GRCm39) |
R593C |
probably benign |
Het |
| Pgm3 |
A |
G |
9: 86,438,243 (GRCm39) |
|
probably null |
Het |
| Pirt |
T |
A |
11: 66,816,998 (GRCm39) |
V103E |
probably damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,635,230 (GRCm39) |
D1332V |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,256,518 (GRCm39) |
V122E |
probably damaging |
Het |
| Pramel14 |
A |
G |
4: 143,720,088 (GRCm39) |
|
probably benign |
Het |
| Prmt2 |
C |
T |
10: 76,044,517 (GRCm39) |
|
probably benign |
Het |
| Prrc2a |
G |
T |
17: 35,372,536 (GRCm39) |
P1702T |
probably damaging |
Het |
| Prss39 |
A |
T |
1: 34,539,279 (GRCm39) |
H173L |
probably damaging |
Het |
| Rabl6 |
A |
G |
2: 25,476,878 (GRCm39) |
|
probably null |
Het |
| Rb1cc1 |
T |
A |
1: 6,319,014 (GRCm39) |
I794K |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,125,535 (GRCm39) |
D2716G |
probably damaging |
Het |
| Sbf2 |
ACC |
AC |
7: 109,929,890 (GRCm39) |
|
probably null |
Het |
| Sema6d |
T |
A |
2: 124,502,665 (GRCm39) |
F583L |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,872,938 (GRCm39) |
C67R |
probably damaging |
Het |
| Skint1 |
T |
A |
4: 111,886,596 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
C |
A |
11: 75,053,757 (GRCm39) |
T1413K |
probably benign |
Het |
| Spata31d1a |
A |
T |
13: 59,850,073 (GRCm39) |
I685N |
possibly damaging |
Het |
| Spef2 |
T |
A |
15: 9,592,844 (GRCm39) |
N1499I |
probably damaging |
Het |
| Stk11ip |
T |
A |
1: 75,508,932 (GRCm39) |
|
probably null |
Het |
| Stxbp1 |
A |
C |
2: 32,692,795 (GRCm39) |
I407S |
probably damaging |
Het |
| Svil |
T |
C |
18: 5,117,002 (GRCm39) |
S2059P |
probably damaging |
Het |
| Syne1 |
C |
T |
10: 5,300,933 (GRCm39) |
V932M |
probably damaging |
Het |
| Tacc1 |
A |
C |
8: 25,668,020 (GRCm39) |
|
probably benign |
Het |
| Tbc1d13 |
C |
A |
2: 30,025,576 (GRCm39) |
|
probably benign |
Het |
| Tbc1d15 |
A |
C |
10: 115,075,204 (GRCm39) |
D59E |
probably damaging |
Het |
| Tcaf2 |
A |
G |
6: 42,619,445 (GRCm39) |
F194S |
probably damaging |
Het |
| Terf2ip |
T |
A |
8: 112,738,127 (GRCm39) |
M5K |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 115,987,388 (GRCm39) |
D40E |
probably benign |
Het |
| Tm4sf5 |
T |
A |
11: 70,401,495 (GRCm39) |
S165T |
probably damaging |
Het |
| Tmprss3 |
A |
T |
17: 31,412,886 (GRCm39) |
C129S |
probably damaging |
Het |
| Tmx2 |
T |
C |
2: 84,502,740 (GRCm39) |
D256G |
probably benign |
Het |
| Tnr |
A |
G |
1: 159,695,673 (GRCm39) |
D532G |
probably damaging |
Het |
| Tnrc18 |
T |
A |
5: 142,762,494 (GRCm39) |
H465L |
unknown |
Het |
| Togaram2 |
A |
T |
17: 72,007,504 (GRCm39) |
Q350L |
possibly damaging |
Het |
| Topaz1 |
G |
A |
9: 122,578,971 (GRCm39) |
C627Y |
possibly damaging |
Het |
| Tpx2 |
A |
T |
2: 152,715,058 (GRCm39) |
Q93L |
probably benign |
Het |
| Trim54 |
T |
C |
5: 31,293,526 (GRCm39) |
|
probably null |
Het |
| Troap |
T |
A |
15: 98,980,541 (GRCm39) |
C574S |
probably damaging |
Het |
| Tut7 |
A |
T |
13: 59,964,669 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
T |
C |
4: 139,206,373 (GRCm39) |
|
probably null |
Het |
| Vmn2r51 |
A |
G |
7: 9,834,396 (GRCm39) |
V214A |
possibly damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,484 (GRCm39) |
M642K |
probably benign |
Het |
| Vwa5a |
T |
A |
9: 38,635,191 (GRCm39) |
I232N |
probably damaging |
Het |
| Zfp820 |
A |
T |
17: 22,038,685 (GRCm39) |
S214R |
probably damaging |
Het |
| Zfp955b |
A |
T |
17: 33,524,437 (GRCm39) |
S43R |
probably damaging |
Het |
| Zgrf1 |
C |
T |
3: 127,381,687 (GRCm39) |
T1162M |
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 |
|
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 |
|
|
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'- GCAGTTAATGCCAGTGTGGAGAAGC -3'
(R):5'- ACACTTGAACTGGGAGTTGCCATC -3'
Sequencing Primer
(F):5'- CAGTGTGGAGAAGCAGCTTG -3'
(R):5'- TAAGATCTCTGCGATCAGGC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation