Incidental Mutation 'R5384:Tep1'
ID |
424982 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tep1
|
Ensembl Gene |
ENSMUSG00000006281 |
Gene Name |
telomerase associated protein 1 |
Synonyms |
Tp1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5384 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
51061516-51108017 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 51105774 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 82
(L82Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006444
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006444]
|
AlphaFold |
P97499 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006444
AA Change: L82Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000006444 Gene: ENSMUSG00000006281 AA Change: L82Q
Domain | Start | End | E-Value | Type |
Pfam:TEP1_N
|
1 |
29 |
2.8e-20 |
PFAM |
Pfam:TEP1_N
|
31 |
59 |
1.4e-20 |
PFAM |
Pfam:TEP1_N
|
61 |
89 |
3.1e-20 |
PFAM |
Pfam:TEP1_N
|
91 |
119 |
3e-20 |
PFAM |
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
low complexity region
|
211 |
229 |
N/A |
INTRINSIC |
Pfam:TROVE
|
230 |
685 |
3.2e-136 |
PFAM |
Pfam:DUF4062
|
909 |
1020 |
2.4e-22 |
PFAM |
Pfam:NACHT
|
1171 |
1346 |
9.2e-38 |
PFAM |
low complexity region
|
1393 |
1405 |
N/A |
INTRINSIC |
low complexity region
|
1622 |
1641 |
N/A |
INTRINSIC |
WD40
|
1673 |
1711 |
2.98e-1 |
SMART |
WD40
|
1714 |
1752 |
5.33e0 |
SMART |
WD40
|
1755 |
1794 |
1.52e-4 |
SMART |
WD40
|
1797 |
1835 |
3.27e-4 |
SMART |
WD40
|
1838 |
1877 |
3.09e-1 |
SMART |
WD40
|
1880 |
1919 |
2.24e-2 |
SMART |
WD40
|
1925 |
1962 |
4.95e0 |
SMART |
WD40
|
1968 |
2003 |
2.29e1 |
SMART |
WD40
|
2008 |
2045 |
1.72e0 |
SMART |
WD40
|
2058 |
2097 |
3.89e-11 |
SMART |
WD40
|
2103 |
2142 |
3.93e-7 |
SMART |
WD40
|
2145 |
2182 |
4.38e-5 |
SMART |
WD40
|
2184 |
2232 |
1.24e0 |
SMART |
WD40
|
2235 |
2273 |
1.14e-3 |
SMART |
WD40
|
2275 |
2315 |
4.46e-1 |
SMART |
Blast:WD40
|
2316 |
2353 |
4e-12 |
BLAST |
WD40
|
2546 |
2583 |
6.79e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181482
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181697
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227103
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227207
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227351
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228078
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228254
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] PHENOTYPE: Mice homozygous for a disruption in this gene show no obvious phenotype. No changes are seen in telomerase activity or telomere length. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 126 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
C |
13: 119,606,496 (GRCm39) |
V246A |
probably benign |
Het |
Abcc10 |
T |
C |
17: 46,615,361 (GRCm39) |
S1343G |
possibly damaging |
Het |
Abcd3 |
C |
A |
3: 121,555,059 (GRCm39) |
|
probably null |
Het |
Actl6a |
T |
A |
3: 32,774,642 (GRCm39) |
M335K |
probably damaging |
Het |
Adamts9 |
A |
C |
6: 92,774,999 (GRCm39) |
C1090W |
probably damaging |
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 |
Ankhd1 |
A |
G |
18: 36,724,548 (GRCm39) |
E402G |
probably damaging |
Het |
Ankrd36 |
A |
G |
11: 5,639,340 (GRCm39) |
|
probably benign |
Het |
Apeh |
A |
T |
9: 107,963,662 (GRCm39) |
L551H |
probably damaging |
Het |
Avpr1a |
T |
A |
10: 122,285,274 (GRCm39) |
F189I |
probably damaging |
Het |
BC034090 |
T |
A |
1: 155,117,773 (GRCm39) |
H115L |
possibly damaging |
Het |
C4b |
A |
T |
17: 34,956,635 (GRCm39) |
D654E |
possibly damaging |
Het |
Carns1 |
T |
A |
19: 4,221,900 (GRCm39) |
|
probably null |
Het |
Ccdc146 |
T |
A |
5: 21,513,711 (GRCm39) |
E469V |
probably benign |
Het |
Cdc27 |
A |
G |
11: 104,397,966 (GRCm39) |
I804T |
probably benign |
Het |
Cdh23 |
G |
A |
10: 60,173,541 (GRCm39) |
T1651I |
probably damaging |
Het |
Cenpo |
G |
A |
12: 4,266,646 (GRCm39) |
P154L |
probably damaging |
Het |
Cenpu |
G |
A |
8: 47,015,534 (GRCm39) |
G150R |
probably benign |
Het |
Chrna10 |
C |
A |
7: 101,763,560 (GRCm39) |
L78F |
probably damaging |
Het |
Chrne |
A |
T |
11: 70,505,913 (GRCm39) |
N457K |
possibly damaging |
Het |
Cidea |
A |
T |
18: 67,493,236 (GRCm39) |
D85V |
probably damaging |
Het |
Cldn18 |
T |
C |
9: 99,591,911 (GRCm39) |
S31G |
possibly damaging |
Het |
Clpb |
T |
A |
7: 101,428,548 (GRCm39) |
I436N |
probably damaging |
Het |
Col11a2 |
T |
C |
17: 34,278,148 (GRCm39) |
|
probably null |
Het |
Cul7 |
T |
C |
17: 46,965,403 (GRCm39) |
V527A |
probably benign |
Het |
Dchs1 |
A |
C |
7: 105,407,236 (GRCm39) |
V2119G |
probably damaging |
Het |
Dchs1 |
T |
A |
7: 105,421,262 (GRCm39) |
D386V |
probably damaging |
Het |
Dcstamp |
A |
C |
15: 39,622,715 (GRCm39) |
Q345H |
probably damaging |
Het |
Dlgap3 |
A |
G |
4: 127,130,123 (GRCm39) |
I955V |
probably damaging |
Het |
Dvl1 |
A |
G |
4: 155,938,143 (GRCm39) |
D97G |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,016,791 (GRCm39) |
D3573G |
probably damaging |
Het |
Efr3b |
G |
T |
12: 4,033,419 (GRCm39) |
F129L |
probably benign |
Het |
Etaa1 |
G |
A |
11: 17,897,539 (GRCm39) |
L193F |
probably damaging |
Het |
Fam13c |
G |
A |
10: 70,388,899 (GRCm39) |
S474N |
probably benign |
Het |
Fam171a2 |
C |
A |
11: 102,328,693 (GRCm39) |
V689L |
possibly damaging |
Het |
Fastkd3 |
T |
C |
13: 68,732,704 (GRCm39) |
F342L |
probably benign |
Het |
Fat4 |
T |
C |
3: 39,050,095 (GRCm39) |
S3986P |
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 |
Fgr |
G |
A |
4: 132,713,664 (GRCm39) |
|
probably null |
Het |
Gbx2 |
T |
C |
1: 89,856,635 (GRCm39) |
T252A |
probably damaging |
Het |
Gm20671 |
A |
G |
5: 32,977,286 (GRCm39) |
S1823P |
probably damaging |
Het |
Gpatch8 |
A |
T |
11: 102,399,053 (GRCm39) |
|
probably null |
Het |
Gsdma |
A |
T |
11: 98,557,275 (GRCm39) |
|
probably null |
Het |
Gucy2g |
G |
A |
19: 55,203,548 (GRCm39) |
A750V |
probably damaging |
Het |
Hdac9 |
A |
G |
12: 34,479,557 (GRCm39) |
Y223H |
probably damaging |
Het |
Igsf5 |
C |
A |
16: 96,192,226 (GRCm39) |
T275N |
probably benign |
Het |
Il23r |
G |
A |
6: 67,463,275 (GRCm39) |
H73Y |
probably benign |
Het |
Ipo4 |
G |
T |
14: 55,863,653 (GRCm39) |
R1026S |
probably benign |
Het |
Jade1 |
T |
A |
3: 41,546,137 (GRCm39) |
I54N |
probably damaging |
Het |
Khdrbs1 |
G |
T |
4: 129,635,729 (GRCm39) |
D75E |
possibly damaging |
Het |
Lrwd1 |
A |
T |
5: 136,152,728 (GRCm39) |
D511E |
possibly damaging |
Het |
Ly75 |
A |
T |
2: 60,164,831 (GRCm39) |
C782* |
probably null |
Het |
Mmp3 |
C |
T |
9: 7,451,759 (GRCm39) |
R366* |
probably null |
Het |
Mrgpra6 |
A |
G |
7: 46,838,629 (GRCm39) |
C190R |
probably damaging |
Het |
Mtcl3 |
A |
G |
10: 29,072,766 (GRCm39) |
D686G |
probably benign |
Het |
Myh10 |
T |
A |
11: 68,692,434 (GRCm39) |
L1369Q |
probably damaging |
Het |
Myof |
C |
T |
19: 37,941,435 (GRCm39) |
A792T |
probably damaging |
Het |
Ncf1 |
A |
G |
5: 134,250,659 (GRCm39) |
L373P |
probably damaging |
Het |
Ncoa7 |
C |
A |
10: 30,598,813 (GRCm39) |
A37S |
probably benign |
Het |
Nfkb1 |
A |
G |
3: 135,318,303 (GRCm39) |
V310A |
possibly damaging |
Het |
Nmur2 |
T |
A |
11: 55,931,040 (GRCm39) |
I224F |
probably damaging |
Het |
Nr1d2 |
A |
T |
14: 18,211,922 (GRCm38) |
S394T |
probably benign |
Het |
Nudt12 |
A |
G |
17: 59,310,434 (GRCm39) |
W390R |
probably damaging |
Het |
Or11g24 |
T |
A |
14: 50,662,846 (GRCm39) |
V290E |
possibly damaging |
Het |
Or2m13 |
A |
G |
16: 19,226,547 (GRCm39) |
L73P |
probably damaging |
Het |
Or4a79 |
T |
A |
2: 89,551,649 (GRCm39) |
I269F |
possibly damaging |
Het |
Or4e1 |
T |
A |
14: 52,700,714 (GRCm39) |
T251S |
probably benign |
Het |
Or52a20 |
T |
C |
7: 103,366,562 (GRCm39) |
F254L |
probably benign |
Het |
Pate2 |
A |
G |
9: 35,581,837 (GRCm39) |
M44V |
probably damaging |
Het |
Pikfyve |
T |
C |
1: 65,283,568 (GRCm39) |
L735S |
probably damaging |
Het |
Plce1 |
C |
A |
19: 38,748,535 (GRCm39) |
N1755K |
probably damaging |
Het |
Pld1 |
C |
A |
3: 28,079,469 (GRCm39) |
R90S |
probably damaging |
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 |
Ppm1d |
A |
G |
11: 85,202,609 (GRCm39) |
E104G |
probably damaging |
Het |
Ppm1e |
A |
T |
11: 87,249,377 (GRCm39) |
L118Q |
possibly damaging |
Het |
Ppp1r42 |
A |
G |
1: 10,069,660 (GRCm39) |
L134P |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,386,625 (GRCm39) |
D1038G |
probably damaging |
Het |
Prss36 |
C |
A |
7: 127,535,871 (GRCm39) |
R288L |
probably damaging |
Het |
Prss51 |
T |
A |
14: 64,334,543 (GRCm39) |
V108E |
probably damaging |
Het |
Psma3 |
G |
T |
12: 71,021,539 (GRCm39) |
G7W |
probably damaging |
Het |
Psmc3ip |
A |
T |
11: 100,983,430 (GRCm39) |
|
probably null |
Het |
Qser1 |
T |
C |
2: 104,616,987 (GRCm39) |
E1275G |
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 |
Rcc2 |
A |
T |
4: 140,447,877 (GRCm39) |
K468* |
probably null |
Het |
S1pr2 |
T |
C |
9: 20,878,890 (GRCm39) |
T313A |
probably benign |
Het |
Sec1 |
C |
A |
7: 45,328,264 (GRCm39) |
R261L |
probably benign |
Het |
Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Homo |
Sgip1 |
G |
A |
4: 102,791,763 (GRCm39) |
V362I |
possibly damaging |
Het |
Shroom4 |
T |
A |
X: 6,497,523 (GRCm39) |
C894* |
probably null |
Het |
Slc12a9 |
A |
T |
5: 137,329,276 (GRCm39) |
L126Q |
probably damaging |
Het |
Slx4 |
A |
G |
16: 3,808,669 (GRCm39) |
S424P |
probably damaging |
Het |
Smg5 |
T |
C |
3: 88,258,600 (GRCm39) |
S524P |
probably damaging |
Het |
Sncaip |
A |
G |
18: 53,018,113 (GRCm39) |
D418G |
probably damaging |
Het |
Spata31d1b |
C |
A |
13: 59,866,032 (GRCm39) |
T1060K |
possibly damaging |
Het |
Spink6 |
A |
G |
18: 44,215,347 (GRCm39) |
T66A |
probably damaging |
Het |
Sppl2c |
T |
A |
11: 104,078,127 (GRCm39) |
I309K |
possibly damaging |
Het |
Stk39 |
T |
A |
2: 68,240,383 (GRCm39) |
D116V |
probably damaging |
Het |
Supv3l1 |
A |
T |
10: 62,266,375 (GRCm39) |
N600K |
possibly damaging |
Het |
Svep1 |
T |
C |
4: 58,104,545 (GRCm39) |
K1226R |
possibly damaging |
Het |
Syne1 |
C |
T |
10: 4,991,494 (GRCm39) |
V557I |
probably benign |
Het |
Tas2r117 |
G |
T |
6: 132,780,117 (GRCm39) |
S85I |
probably benign |
Het |
Tcf20 |
T |
A |
15: 82,740,400 (GRCm39) |
Q350H |
probably damaging |
Het |
Tfb2m |
A |
C |
1: 179,373,437 (GRCm39) |
|
probably null |
Het |
Tm9sf1 |
C |
T |
14: 55,880,301 (GRCm39) |
G32D |
possibly damaging |
Het |
Tpd52 |
A |
T |
3: 8,996,255 (GRCm39) |
|
probably null |
Het |
Trappc8 |
A |
T |
18: 20,966,119 (GRCm39) |
|
probably null |
Het |
Trbv30 |
A |
G |
6: 41,258,854 (GRCm39) |
T88A |
probably benign |
Het |
Trim40 |
T |
A |
17: 37,199,757 (GRCm39) |
N107I |
probably damaging |
Het |
Trim80 |
A |
T |
11: 115,338,843 (GRCm39) |
T558S |
probably benign |
Het |
Ttn |
A |
G |
2: 76,708,692 (GRCm39) |
|
probably benign |
Het |
Vav3 |
A |
G |
3: 109,434,791 (GRCm39) |
M441V |
possibly damaging |
Het |
Vmn1r42 |
T |
A |
6: 89,822,366 (GRCm39) |
I68F |
probably 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 |
Vwa7 |
G |
T |
17: 35,243,902 (GRCm39) |
|
probably null |
Het |
Xndc1 |
T |
C |
7: 101,731,395 (GRCm39) |
V378A |
probably benign |
Het |
Zc3h12d |
A |
T |
10: 7,729,014 (GRCm39) |
D126V |
probably damaging |
Het |
Zc3h13 |
A |
G |
14: 75,581,059 (GRCm39) |
N1682S |
probably benign |
Het |
Zc3h15 |
T |
C |
2: 83,490,574 (GRCm39) |
I236T |
possibly damaging |
Het |
Zfp13 |
A |
T |
17: 23,800,156 (GRCm39) |
I34N |
probably damaging |
Het |
Zfp169 |
A |
T |
13: 48,643,751 (GRCm39) |
C459S |
possibly damaging |
Het |
Zfyve28 |
A |
G |
5: 34,374,311 (GRCm39) |
C568R |
probably damaging |
Het |
|
Other mutations in Tep1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00482:Tep1
|
APN |
14 |
51,080,641 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00490:Tep1
|
APN |
14 |
51,070,930 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01114:Tep1
|
APN |
14 |
51,088,096 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01294:Tep1
|
APN |
14 |
51,067,114 (GRCm39) |
splice site |
probably benign |
|
IGL01902:Tep1
|
APN |
14 |
51,103,548 (GRCm39) |
splice site |
probably benign |
|
IGL01910:Tep1
|
APN |
14 |
51,081,569 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01925:Tep1
|
APN |
14 |
51,061,955 (GRCm39) |
unclassified |
probably benign |
|
IGL01965:Tep1
|
APN |
14 |
51,100,952 (GRCm39) |
splice site |
probably benign |
|
IGL02071:Tep1
|
APN |
14 |
51,071,506 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02124:Tep1
|
APN |
14 |
51,091,581 (GRCm39) |
unclassified |
probably benign |
|
IGL02189:Tep1
|
APN |
14 |
51,064,283 (GRCm39) |
missense |
probably benign |
|
IGL02252:Tep1
|
APN |
14 |
51,067,712 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02299:Tep1
|
APN |
14 |
51,078,128 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02343:Tep1
|
APN |
14 |
51,066,704 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02423:Tep1
|
APN |
14 |
51,082,077 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02537:Tep1
|
APN |
14 |
51,073,570 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02601:Tep1
|
APN |
14 |
51,070,935 (GRCm39) |
nonsense |
probably null |
|
IGL02941:Tep1
|
APN |
14 |
51,103,494 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02990:Tep1
|
APN |
14 |
51,105,703 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03144:Tep1
|
APN |
14 |
51,081,474 (GRCm39) |
splice site |
probably benign |
|
IGL03209:Tep1
|
APN |
14 |
51,078,160 (GRCm39) |
splice site |
probably benign |
|
R0240_Tep1_347
|
UTSW |
14 |
51,100,486 (GRCm39) |
splice site |
probably benign |
|
R0972_Tep1_893
|
UTSW |
14 |
51,061,753 (GRCm39) |
unclassified |
probably benign |
|
R1686_Tep1_375
|
UTSW |
14 |
51,074,245 (GRCm39) |
missense |
probably benign |
0.12 |
R7232_Tep1_671
|
UTSW |
14 |
51,081,789 (GRCm39) |
missense |
unknown |
|
R8009_Tep1_822
|
UTSW |
14 |
51,061,687 (GRCm39) |
missense |
possibly damaging |
0.93 |
PIT4305001:Tep1
|
UTSW |
14 |
51,066,684 (GRCm39) |
missense |
possibly damaging |
0.90 |
PIT4362001:Tep1
|
UTSW |
14 |
51,103,510 (GRCm39) |
missense |
probably benign |
0.23 |
R0058:Tep1
|
UTSW |
14 |
51,071,522 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0060:Tep1
|
UTSW |
14 |
51,103,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R0109:Tep1
|
UTSW |
14 |
51,089,373 (GRCm39) |
splice site |
probably null |
|
R0123:Tep1
|
UTSW |
14 |
51,067,150 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0134:Tep1
|
UTSW |
14 |
51,067,150 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0148:Tep1
|
UTSW |
14 |
51,062,246 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0240:Tep1
|
UTSW |
14 |
51,100,486 (GRCm39) |
splice site |
probably benign |
|
R0243:Tep1
|
UTSW |
14 |
51,084,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R0373:Tep1
|
UTSW |
14 |
51,074,225 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0432:Tep1
|
UTSW |
14 |
51,104,280 (GRCm39) |
small deletion |
probably benign |
|
R0464:Tep1
|
UTSW |
14 |
51,085,141 (GRCm39) |
missense |
probably benign |
0.00 |
R0566:Tep1
|
UTSW |
14 |
51,082,871 (GRCm39) |
critical splice donor site |
probably null |
|
R0691:Tep1
|
UTSW |
14 |
51,104,301 (GRCm39) |
nonsense |
probably null |
|
R0787:Tep1
|
UTSW |
14 |
51,066,687 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0972:Tep1
|
UTSW |
14 |
51,061,753 (GRCm39) |
unclassified |
probably benign |
|
R1263:Tep1
|
UTSW |
14 |
51,082,970 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1300:Tep1
|
UTSW |
14 |
51,064,512 (GRCm39) |
critical splice donor site |
probably null |
|
R1327:Tep1
|
UTSW |
14 |
51,090,556 (GRCm39) |
missense |
probably benign |
0.18 |
R1556:Tep1
|
UTSW |
14 |
51,090,499 (GRCm39) |
missense |
probably benign |
0.06 |
R1584:Tep1
|
UTSW |
14 |
51,103,494 (GRCm39) |
missense |
probably damaging |
0.98 |
R1607:Tep1
|
UTSW |
14 |
51,062,020 (GRCm39) |
missense |
probably null |
0.99 |
R1686:Tep1
|
UTSW |
14 |
51,074,245 (GRCm39) |
missense |
probably benign |
0.12 |
R1715:Tep1
|
UTSW |
14 |
51,092,024 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1778:Tep1
|
UTSW |
14 |
51,067,079 (GRCm39) |
intron |
probably benign |
|
R1993:Tep1
|
UTSW |
14 |
51,061,641 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2071:Tep1
|
UTSW |
14 |
51,091,739 (GRCm39) |
missense |
probably benign |
0.23 |
R2104:Tep1
|
UTSW |
14 |
51,088,037 (GRCm39) |
splice site |
probably benign |
|
R2118:Tep1
|
UTSW |
14 |
51,093,029 (GRCm39) |
splice site |
probably null |
|
R2119:Tep1
|
UTSW |
14 |
51,076,443 (GRCm39) |
missense |
probably benign |
0.13 |
R2208:Tep1
|
UTSW |
14 |
51,104,321 (GRCm39) |
missense |
probably benign |
0.01 |
R2241:Tep1
|
UTSW |
14 |
51,091,667 (GRCm39) |
missense |
probably benign |
0.01 |
R2243:Tep1
|
UTSW |
14 |
51,091,667 (GRCm39) |
missense |
probably benign |
0.01 |
R2311:Tep1
|
UTSW |
14 |
51,071,024 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2420:Tep1
|
UTSW |
14 |
51,071,480 (GRCm39) |
missense |
probably benign |
|
R2874:Tep1
|
UTSW |
14 |
51,088,107 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3084:Tep1
|
UTSW |
14 |
51,064,511 (GRCm39) |
critical splice donor site |
probably null |
|
R3086:Tep1
|
UTSW |
14 |
51,064,511 (GRCm39) |
critical splice donor site |
probably null |
|
R3621:Tep1
|
UTSW |
14 |
51,066,477 (GRCm39) |
missense |
probably damaging |
0.99 |
R3815:Tep1
|
UTSW |
14 |
51,105,772 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4124:Tep1
|
UTSW |
14 |
51,081,191 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4125:Tep1
|
UTSW |
14 |
51,081,191 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4127:Tep1
|
UTSW |
14 |
51,081,191 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4134:Tep1
|
UTSW |
14 |
51,082,317 (GRCm39) |
missense |
probably benign |
|
R4152:Tep1
|
UTSW |
14 |
51,075,051 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4153:Tep1
|
UTSW |
14 |
51,075,051 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4191:Tep1
|
UTSW |
14 |
51,074,263 (GRCm39) |
missense |
probably damaging |
0.96 |
R4248:Tep1
|
UTSW |
14 |
51,100,351 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4293:Tep1
|
UTSW |
14 |
51,084,318 (GRCm39) |
missense |
probably benign |
|
R4569:Tep1
|
UTSW |
14 |
51,062,197 (GRCm39) |
missense |
probably benign |
0.01 |
R4704:Tep1
|
UTSW |
14 |
51,074,530 (GRCm39) |
missense |
probably benign |
0.06 |
R4815:Tep1
|
UTSW |
14 |
51,078,759 (GRCm39) |
missense |
probably damaging |
0.99 |
R4978:Tep1
|
UTSW |
14 |
51,082,891 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4989:Tep1
|
UTSW |
14 |
51,076,457 (GRCm39) |
missense |
probably benign |
|
R5022:Tep1
|
UTSW |
14 |
51,066,456 (GRCm39) |
missense |
probably benign |
0.27 |
R5057:Tep1
|
UTSW |
14 |
51,066,456 (GRCm39) |
missense |
probably benign |
0.27 |
R5063:Tep1
|
UTSW |
14 |
51,088,084 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5118:Tep1
|
UTSW |
14 |
51,093,044 (GRCm39) |
splice site |
probably null |
|
R5128:Tep1
|
UTSW |
14 |
51,081,736 (GRCm39) |
makesense |
probably null |
|
R5149:Tep1
|
UTSW |
14 |
51,074,855 (GRCm39) |
nonsense |
probably null |
|
R5171:Tep1
|
UTSW |
14 |
51,062,259 (GRCm39) |
missense |
probably benign |
0.01 |
R5201:Tep1
|
UTSW |
14 |
51,105,567 (GRCm39) |
missense |
probably benign |
0.01 |
R5260:Tep1
|
UTSW |
14 |
51,076,088 (GRCm39) |
missense |
probably benign |
|
R5339:Tep1
|
UTSW |
14 |
51,082,031 (GRCm39) |
missense |
probably damaging |
0.99 |
R5385:Tep1
|
UTSW |
14 |
51,105,774 (GRCm39) |
missense |
probably damaging |
0.98 |
R5386:Tep1
|
UTSW |
14 |
51,105,774 (GRCm39) |
missense |
probably damaging |
0.98 |
R5594:Tep1
|
UTSW |
14 |
51,067,339 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5639:Tep1
|
UTSW |
14 |
51,091,062 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5749:Tep1
|
UTSW |
14 |
51,081,529 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5756:Tep1
|
UTSW |
14 |
51,074,836 (GRCm39) |
critical splice donor site |
probably null |
|
R6013:Tep1
|
UTSW |
14 |
51,098,505 (GRCm39) |
missense |
probably damaging |
0.97 |
R6014:Tep1
|
UTSW |
14 |
51,084,457 (GRCm39) |
missense |
probably benign |
0.12 |
R6248:Tep1
|
UTSW |
14 |
51,067,715 (GRCm39) |
missense |
probably damaging |
0.98 |
R6264:Tep1
|
UTSW |
14 |
51,082,970 (GRCm39) |
missense |
probably damaging |
0.99 |
R6363:Tep1
|
UTSW |
14 |
51,062,005 (GRCm39) |
missense |
probably benign |
0.04 |
R6381:Tep1
|
UTSW |
14 |
51,082,888 (GRCm39) |
missense |
probably damaging |
0.99 |
R6462:Tep1
|
UTSW |
14 |
51,081,836 (GRCm39) |
missense |
probably benign |
|
R6942:Tep1
|
UTSW |
14 |
51,074,194 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6951:Tep1
|
UTSW |
14 |
51,071,370 (GRCm39) |
critical splice donor site |
probably null |
|
R6979:Tep1
|
UTSW |
14 |
51,076,094 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6999:Tep1
|
UTSW |
14 |
51,088,162 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7099:Tep1
|
UTSW |
14 |
51,081,944 (GRCm39) |
splice site |
probably null |
|
R7208:Tep1
|
UTSW |
14 |
51,062,013 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7232:Tep1
|
UTSW |
14 |
51,081,789 (GRCm39) |
missense |
unknown |
|
R7249:Tep1
|
UTSW |
14 |
51,061,732 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7325:Tep1
|
UTSW |
14 |
51,103,495 (GRCm39) |
missense |
probably damaging |
0.99 |
R7409:Tep1
|
UTSW |
14 |
51,104,312 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7499:Tep1
|
UTSW |
14 |
51,091,047 (GRCm39) |
missense |
probably damaging |
0.99 |
R7542:Tep1
|
UTSW |
14 |
51,099,948 (GRCm39) |
nonsense |
probably null |
|
R7806:Tep1
|
UTSW |
14 |
51,074,266 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7825:Tep1
|
UTSW |
14 |
51,081,344 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7901:Tep1
|
UTSW |
14 |
51,064,308 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7961:Tep1
|
UTSW |
14 |
51,061,687 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7993:Tep1
|
UTSW |
14 |
51,067,710 (GRCm39) |
missense |
probably benign |
0.41 |
R8009:Tep1
|
UTSW |
14 |
51,061,687 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8085:Tep1
|
UTSW |
14 |
51,066,753 (GRCm39) |
missense |
probably benign |
0.11 |
R8299:Tep1
|
UTSW |
14 |
51,105,502 (GRCm39) |
missense |
probably benign |
0.06 |
R8330:Tep1
|
UTSW |
14 |
51,085,162 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8396:Tep1
|
UTSW |
14 |
51,074,529 (GRCm39) |
missense |
probably benign |
0.23 |
R8475:Tep1
|
UTSW |
14 |
51,078,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R8695:Tep1
|
UTSW |
14 |
51,082,894 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8726:Tep1
|
UTSW |
14 |
51,085,080 (GRCm39) |
missense |
probably damaging |
0.98 |
R8812:Tep1
|
UTSW |
14 |
51,074,589 (GRCm39) |
missense |
probably damaging |
0.98 |
R9152:Tep1
|
UTSW |
14 |
51,104,162 (GRCm39) |
missense |
probably benign |
0.14 |
R9269:Tep1
|
UTSW |
14 |
51,081,766 (GRCm39) |
missense |
probably damaging |
0.98 |
R9299:Tep1
|
UTSW |
14 |
51,081,988 (GRCm39) |
splice site |
probably benign |
|
R9365:Tep1
|
UTSW |
14 |
51,064,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R9398:Tep1
|
UTSW |
14 |
51,066,429 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9408:Tep1
|
UTSW |
14 |
51,074,637 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9445:Tep1
|
UTSW |
14 |
51,082,967 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9487:Tep1
|
UTSW |
14 |
51,066,687 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9555:Tep1
|
UTSW |
14 |
51,105,888 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9597:Tep1
|
UTSW |
14 |
51,100,465 (GRCm39) |
missense |
probably damaging |
0.99 |
R9715:Tep1
|
UTSW |
14 |
51,081,759 (GRCm39) |
missense |
|
|
R9732:Tep1
|
UTSW |
14 |
51,088,162 (GRCm39) |
missense |
probably benign |
0.33 |
R9777:Tep1
|
UTSW |
14 |
51,076,443 (GRCm39) |
nonsense |
probably null |
|
RF007:Tep1
|
UTSW |
14 |
51,098,402 (GRCm39) |
missense |
possibly damaging |
0.92 |
X0024:Tep1
|
UTSW |
14 |
51,064,576 (GRCm39) |
missense |
possibly damaging |
0.86 |
X0060:Tep1
|
UTSW |
14 |
51,074,221 (GRCm39) |
missense |
probably benign |
0.25 |
Z1177:Tep1
|
UTSW |
14 |
51,085,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AGATCAGCTTGTGCCGTATG -3'
(R):5'- ATGTGCCTGGCCATTCAGAC -3'
Sequencing Primer
(F):5'- CCGTATGAGATATGTGAAGACCCTG -3'
(R):5'- TCTCCTTGAAGAACCGGTGC -3'
|
Posted On |
2016-08-04 |