Incidental Mutation 'R5386:Tep1'
| ID |
425274 |
| 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 # |
R5386 (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: 97.3%
- 20x: 95.4%
|
| 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: 134 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
G |
8: 87,244,118 (GRCm39) |
K1012Q |
possibly damaging |
Het |
| Afmid |
G |
A |
11: 117,718,968 (GRCm39) |
G33R |
probably benign |
Het |
| Agbl3 |
G |
T |
6: 34,776,131 (GRCm39) |
W207C |
probably damaging |
Het |
| Ajuba |
T |
C |
14: 54,807,855 (GRCm39) |
Y459C |
probably damaging |
Het |
| Ak2 |
T |
C |
4: 128,901,965 (GRCm39) |
S213P |
probably benign |
Het |
| Alk |
T |
A |
17: 72,182,007 (GRCm39) |
N1339Y |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,301,761 (GRCm39) |
S416G |
probably damaging |
Het |
| Ank2 |
C |
T |
3: 126,775,582 (GRCm39) |
V854M |
probably benign |
Het |
| Ankrd61 |
G |
T |
5: 143,828,482 (GRCm39) |
N122K |
possibly damaging |
Het |
| Armc9 |
T |
A |
1: 86,126,011 (GRCm39) |
L34Q |
probably null |
Het |
| Aspg |
T |
A |
12: 112,089,466 (GRCm39) |
V418E |
probably benign |
Het |
| Baz1b |
C |
T |
5: 135,266,913 (GRCm39) |
R1241C |
probably damaging |
Het |
| Bclaf1 |
T |
C |
10: 20,201,338 (GRCm39) |
V201A |
possibly damaging |
Het |
| C1ql3 |
A |
T |
2: 13,009,169 (GRCm39) |
D225E |
probably damaging |
Het |
| Capn9 |
A |
G |
8: 125,332,279 (GRCm39) |
T417A |
possibly damaging |
Het |
| Card14 |
C |
T |
11: 119,208,115 (GRCm39) |
R62C |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,887,383 (GRCm39) |
N1271S |
probably benign |
Het |
| Ccpg1 |
G |
A |
9: 72,920,326 (GRCm39) |
S647N |
probably benign |
Het |
| Cdv3 |
T |
C |
9: 103,232,429 (GRCm39) |
K133R |
possibly damaging |
Het |
| Cep128 |
A |
C |
12: 90,966,345 (GRCm39) |
S1087R |
probably benign |
Het |
| Cep70 |
T |
A |
9: 99,163,128 (GRCm39) |
L325Q |
probably damaging |
Het |
| Chit1 |
T |
G |
1: 134,077,192 (GRCm39) |
F332V |
probably damaging |
Het |
| Chodl |
C |
A |
16: 78,743,585 (GRCm39) |
T219K |
probably damaging |
Het |
| Cntn4 |
T |
C |
6: 106,158,765 (GRCm39) |
L10P |
possibly damaging |
Het |
| Copg1 |
G |
T |
6: 87,867,189 (GRCm39) |
M87I |
possibly damaging |
Het |
| Cplane1 |
G |
A |
15: 8,223,897 (GRCm39) |
G887R |
probably damaging |
Het |
| Cyp3a59 |
A |
G |
5: 146,022,578 (GRCm39) |
Y28C |
probably benign |
Het |
| Dchs1 |
A |
C |
7: 105,407,236 (GRCm39) |
V2119G |
probably damaging |
Het |
| Dedd |
T |
C |
1: 171,165,951 (GRCm39) |
L23P |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,286,041 (GRCm39) |
S2715P |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,920,182 (GRCm39) |
N2237S |
probably damaging |
Het |
| Drosha |
A |
G |
15: 12,842,207 (GRCm39) |
I337V |
probably benign |
Het |
| Duox2 |
A |
G |
2: 122,125,617 (GRCm39) |
V330A |
probably benign |
Het |
| Dusp11 |
T |
C |
6: 85,924,587 (GRCm39) |
*322W |
probably null |
Het |
| Dusp8 |
T |
A |
7: 141,643,730 (GRCm39) |
Q61L |
possibly damaging |
Het |
| Ears2 |
G |
C |
7: 121,643,600 (GRCm39) |
T426S |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,784,380 (GRCm39) |
Y646H |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,178,422 (GRCm39) |
I220K |
possibly damaging |
Het |
| Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
| Fam171a2 |
C |
A |
11: 102,328,693 (GRCm39) |
V689L |
possibly damaging |
Het |
| Fam91a1 |
G |
A |
15: 58,320,243 (GRCm39) |
S645N |
probably benign |
Het |
| Fancg |
G |
A |
4: 43,007,076 (GRCm39) |
Q234* |
probably null |
Het |
| Garre1 |
A |
G |
7: 33,941,813 (GRCm39) |
F120L |
probably damaging |
Het |
| Gid4 |
T |
A |
11: 60,323,268 (GRCm39) |
|
probably null |
Het |
| Gm7361 |
A |
C |
5: 26,463,903 (GRCm39) |
T53P |
probably benign |
Het |
| Golgb1 |
T |
A |
16: 36,732,677 (GRCm39) |
C641* |
probably null |
Het |
| Gon4l |
T |
A |
3: 88,765,803 (GRCm39) |
M409K |
probably benign |
Het |
| Gpatch8 |
A |
T |
11: 102,399,053 (GRCm39) |
|
probably null |
Het |
| Gpr156 |
T |
A |
16: 37,768,671 (GRCm39) |
V64E |
possibly damaging |
Het |
| Grid2 |
T |
A |
6: 63,908,089 (GRCm39) |
I243K |
probably damaging |
Het |
| Gucy2g |
G |
A |
19: 55,203,548 (GRCm39) |
A750V |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,092,967 (GRCm39) |
E590G |
possibly damaging |
Het |
| Herc3 |
T |
A |
6: 58,851,263 (GRCm39) |
M504K |
probably damaging |
Het |
| Hif1a |
A |
G |
12: 73,990,867 (GRCm39) |
E713G |
probably benign |
Het |
| Hmx3 |
A |
G |
7: 131,146,033 (GRCm39) |
D247G |
probably damaging |
Het |
| Hoxd11 |
G |
T |
2: 74,513,163 (GRCm39) |
E143* |
probably null |
Het |
| Ifitm3 |
T |
C |
7: 140,590,554 (GRCm39) |
N2S |
probably benign |
Het |
| Il17f |
T |
C |
1: 20,848,181 (GRCm39) |
Q99R |
probably benign |
Het |
| Itga6 |
T |
A |
2: 71,671,494 (GRCm39) |
S341R |
probably damaging |
Het |
| Itgam |
A |
G |
7: 127,707,152 (GRCm39) |
N661S |
probably benign |
Het |
| Jag1 |
A |
T |
2: 136,937,464 (GRCm39) |
H303Q |
possibly damaging |
Het |
| Kcnh8 |
T |
A |
17: 53,033,023 (GRCm39) |
N103K |
probably benign |
Het |
| Kdm6b |
T |
C |
11: 69,291,636 (GRCm39) |
|
probably benign |
Het |
| Keg1 |
A |
C |
19: 12,691,902 (GRCm39) |
N63T |
probably damaging |
Het |
| Klf12 |
T |
A |
14: 100,137,595 (GRCm39) |
H317L |
probably damaging |
Het |
| Lrp1 |
A |
T |
10: 127,427,983 (GRCm39) |
V530E |
probably damaging |
Het |
| Mrgpra6 |
A |
G |
7: 46,838,629 (GRCm39) |
C190R |
probably damaging |
Het |
| Myo1a |
G |
T |
10: 127,541,766 (GRCm39) |
E102* |
probably null |
Het |
| Napa |
A |
T |
7: 15,850,397 (GRCm39) |
E265D |
probably benign |
Het |
| Ncam1 |
A |
C |
9: 49,476,174 (GRCm39) |
V305G |
probably damaging |
Het |
| Nek8 |
T |
C |
11: 78,061,263 (GRCm39) |
|
probably null |
Het |
| Or10ag53 |
C |
T |
2: 87,082,827 (GRCm39) |
P182L |
probably benign |
Het |
| Or11g24 |
T |
A |
14: 50,662,846 (GRCm39) |
V290E |
possibly damaging |
Het |
| Or4a70 |
G |
T |
2: 89,324,481 (GRCm39) |
Y58* |
probably null |
Het |
| Or4f52 |
T |
C |
2: 111,061,539 (GRCm39) |
T200A |
probably benign |
Het |
| Or52a20 |
T |
C |
7: 103,366,562 (GRCm39) |
F254L |
probably benign |
Het |
| Or5ak4 |
T |
C |
2: 85,161,979 (GRCm39) |
T88A |
probably benign |
Het |
| Or5h23 |
T |
A |
16: 58,906,253 (GRCm39) |
M198L |
probably benign |
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 |
| Pabpc4 |
A |
G |
4: 123,188,790 (GRCm39) |
Q417R |
probably benign |
Het |
| Panx3 |
A |
T |
9: 37,580,320 (GRCm39) |
M11K |
probably damaging |
Het |
| Pcbp1 |
C |
T |
6: 86,502,471 (GRCm39) |
E143K |
probably damaging |
Het |
| Pdcd7 |
G |
A |
9: 65,265,974 (GRCm39) |
W477* |
probably null |
Het |
| Pi4k2a |
G |
A |
19: 42,078,954 (GRCm39) |
S5N |
probably damaging |
Het |
| Plag1 |
T |
A |
4: 3,904,075 (GRCm39) |
Q372L |
probably benign |
Het |
| Plce1 |
C |
A |
19: 38,748,535 (GRCm39) |
N1755K |
probably damaging |
Het |
| Pld4 |
G |
T |
12: 112,730,422 (GRCm39) |
E102* |
probably null |
Het |
| Pnlip |
A |
G |
19: 58,668,039 (GRCm39) |
N345S |
probably benign |
Het |
| Ppm1e |
A |
T |
11: 87,249,377 (GRCm39) |
L118Q |
possibly damaging |
Het |
| Prkra |
T |
G |
2: 76,469,622 (GRCm39) |
T146P |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,386,625 (GRCm39) |
D1038G |
probably damaging |
Het |
| Prss51 |
T |
A |
14: 64,334,543 (GRCm39) |
V108E |
probably damaging |
Het |
| Prxl2b |
T |
A |
4: 154,983,462 (GRCm39) |
M1L |
probably benign |
Het |
| Ptch1 |
A |
G |
13: 63,692,857 (GRCm39) |
Y181H |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,244,527 (GRCm39) |
V817A |
probably benign |
Het |
| Rictor |
C |
A |
15: 6,818,985 (GRCm39) |
Q1403K |
probably benign |
Het |
| Rims1 |
T |
A |
1: 22,482,469 (GRCm39) |
I882F |
probably damaging |
Het |
| Rnf19a |
A |
G |
15: 36,242,185 (GRCm39) |
V618A |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,816,841 (GRCm39) |
I65N |
probably damaging |
Het |
| S1pr2 |
T |
C |
9: 20,878,890 (GRCm39) |
T313A |
probably benign |
Het |
| Serpine2 |
A |
T |
1: 79,799,004 (GRCm39) |
Y83* |
probably null |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,772,256 (GRCm39) |
V215A |
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 |
| Slc14a2 |
T |
A |
18: 78,229,055 (GRCm39) |
D306V |
possibly damaging |
Het |
| Slc28a2b |
C |
A |
2: 122,353,259 (GRCm39) |
L480I |
probably benign |
Het |
| Slc4a10 |
A |
T |
2: 62,120,402 (GRCm39) |
E843V |
probably damaging |
Het |
| Smyd4 |
T |
A |
11: 75,280,982 (GRCm39) |
C152S |
probably damaging |
Het |
| Snx10 |
T |
C |
6: 51,552,952 (GRCm39) |
Y32H |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,968,580 (GRCm39) |
T558A |
possibly damaging |
Het |
| Spata31d1b |
G |
A |
13: 59,866,866 (GRCm39) |
C1338Y |
possibly damaging |
Het |
| Sppl2c |
T |
A |
11: 104,078,127 (GRCm39) |
I309K |
possibly damaging |
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 |
| Tecpr2 |
T |
C |
12: 110,881,887 (GRCm39) |
V152A |
probably damaging |
Het |
| Tedc1 |
T |
C |
12: 113,120,302 (GRCm39) |
V47A |
probably benign |
Het |
| Tgm4 |
A |
G |
9: 122,885,559 (GRCm39) |
Y367C |
probably damaging |
Het |
| Tle1 |
C |
T |
4: 72,060,081 (GRCm39) |
V258M |
probably damaging |
Het |
| Tm9sf1 |
C |
T |
14: 55,880,301 (GRCm39) |
G32D |
possibly damaging |
Het |
| Tmco2 |
A |
G |
4: 120,963,181 (GRCm39) |
L106P |
probably damaging |
Het |
| Tmem131 |
A |
T |
1: 36,911,639 (GRCm39) |
C103S |
possibly damaging |
Het |
| Tmprss7 |
T |
A |
16: 45,489,891 (GRCm39) |
I444F |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,191,470 (GRCm39) |
V493A |
probably benign |
Het |
| Trim80 |
A |
T |
11: 115,338,843 (GRCm39) |
T558S |
probably benign |
Het |
| Trmt6 |
C |
A |
2: 132,650,703 (GRCm39) |
A302S |
probably benign |
Het |
| Ttc17 |
A |
T |
2: 94,133,985 (GRCm39) |
W1067R |
probably damaging |
Het |
| Tulp4 |
T |
A |
17: 6,286,568 (GRCm39) |
V1532D |
probably damaging |
Het |
| Ubqlnl |
T |
G |
7: 103,798,424 (GRCm39) |
I358L |
probably benign |
Het |
| Ulk3 |
T |
A |
9: 57,498,023 (GRCm39) |
I108N |
possibly damaging |
Het |
| Vps13b |
A |
T |
15: 35,640,674 (GRCm39) |
|
probably null |
Het |
| Vwa3a |
A |
G |
7: 120,389,365 (GRCm39) |
K68E |
possibly damaging |
Het |
| Zfp746 |
G |
T |
6: 48,041,110 (GRCm39) |
H538N |
possibly 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 |
|
R5384:Tep1
|
UTSW |
14 |
51,105,774 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5385: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'- GATCAGCTTGTGCCGTATGAG -3'
(R):5'- ATGTGCCTGGCCATTCAGAC -3'
Sequencing Primer
(F):5'- CCGTATGAGATATGTGAAGACCCTG -3'
(R):5'- TCTCCTTGAAGAACCGGTGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation