Incidental Mutation 'R0243:Tep1'
ID |
37902 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tep1
|
Ensembl Gene |
ENSMUSG00000006281 |
Gene Name |
telomerase associated protein 1 |
Synonyms |
Tp1 |
MMRRC Submission |
038481-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0243 (G1)
|
Quality Score |
179 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
51061516-51108017 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 51084444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 187
(I187F)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006444]
|
AlphaFold |
P97499 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006444
AA Change: I912F
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000006444 Gene: ENSMUSG00000006281 AA Change: I912F
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 |
probably damaging
Transcript: ENSMUST00000226430
AA Change: I187F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226789
|
Meta Mutation Damage Score |
0.1662 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.0%
|
Validation Efficiency |
98% (148/151) |
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: 139 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
T |
G |
5: 64,055,806 (GRCm39) |
Y181D |
probably benign |
Het |
1700029H14Rik |
A |
G |
8: 13,604,715 (GRCm39) |
V196A |
possibly damaging |
Het |
2410004B18Rik |
A |
G |
3: 145,643,833 (GRCm39) |
D7G |
probably damaging |
Het |
Acap1 |
A |
G |
11: 69,776,252 (GRCm39) |
V249A |
probably damaging |
Het |
Acat2 |
A |
T |
17: 13,162,908 (GRCm39) |
D313E |
probably benign |
Het |
Actn4 |
T |
C |
7: 28,604,823 (GRCm39) |
T325A |
probably benign |
Het |
Adamdec1 |
C |
T |
14: 68,819,407 (GRCm39) |
|
probably null |
Het |
Adat2 |
A |
G |
10: 13,429,037 (GRCm39) |
T10A |
probably benign |
Het |
Aff4 |
T |
A |
11: 53,288,685 (GRCm39) |
S400R |
possibly damaging |
Het |
Agbl2 |
C |
T |
2: 90,621,825 (GRCm39) |
P104L |
possibly damaging |
Het |
Alox12 |
G |
T |
11: 70,133,542 (GRCm39) |
T594K |
possibly damaging |
Het |
Als2 |
C |
A |
1: 59,254,546 (GRCm39) |
K270N |
probably benign |
Het |
Ankhd1 |
T |
A |
18: 36,767,787 (GRCm39) |
C1235S |
probably damaging |
Het |
Ankrd24 |
T |
A |
10: 81,470,778 (GRCm39) |
I69N |
probably damaging |
Het |
Aox4 |
G |
A |
1: 58,252,235 (GRCm39) |
V37I |
probably benign |
Het |
Arfgap3 |
A |
G |
15: 83,214,714 (GRCm39) |
|
probably benign |
Het |
Arhgef4 |
T |
A |
1: 34,846,080 (GRCm39) |
|
probably null |
Het |
Asic1 |
C |
T |
15: 99,596,498 (GRCm39) |
|
probably benign |
Het |
Atp8b5 |
A |
G |
4: 43,366,057 (GRCm39) |
N776S |
probably benign |
Het |
Bbs7 |
A |
G |
3: 36,659,883 (GRCm39) |
I184T |
probably benign |
Het |
Bbs9 |
A |
T |
9: 22,425,297 (GRCm39) |
H117L |
probably damaging |
Het |
Bnip2 |
T |
C |
9: 69,902,787 (GRCm39) |
W10R |
probably damaging |
Het |
Brd4 |
G |
T |
17: 32,443,097 (GRCm39) |
Q175K |
probably benign |
Het |
Bysl |
A |
T |
17: 47,917,821 (GRCm39) |
V124E |
possibly damaging |
Het |
Cadm3 |
A |
G |
1: 173,174,140 (GRCm39) |
|
probably benign |
Het |
Cc2d2a |
T |
C |
5: 43,853,980 (GRCm39) |
|
probably benign |
Het |
Ccdc134 |
G |
T |
15: 82,025,147 (GRCm39) |
E215D |
probably damaging |
Het |
Celsr3 |
G |
T |
9: 108,720,923 (GRCm39) |
|
probably benign |
Het |
Cntn5 |
T |
A |
9: 9,781,780 (GRCm39) |
D428V |
probably damaging |
Het |
Cog1 |
A |
G |
11: 113,547,821 (GRCm39) |
|
probably benign |
Het |
Col11a2 |
G |
T |
17: 34,281,520 (GRCm39) |
|
probably benign |
Het |
Cyp4f13 |
G |
A |
17: 33,143,943 (GRCm39) |
|
probably benign |
Het |
Dffb |
T |
A |
4: 154,049,835 (GRCm39) |
K343* |
probably null |
Het |
Dnah9 |
T |
A |
11: 65,802,678 (GRCm39) |
I224F |
possibly damaging |
Het |
Dolk |
A |
T |
2: 30,176,031 (GRCm39) |
C5S |
probably benign |
Het |
Dynlt2b |
A |
G |
16: 32,245,705 (GRCm39) |
D118G |
probably damaging |
Het |
Ebf1 |
A |
T |
11: 44,759,915 (GRCm39) |
|
probably benign |
Het |
Elac1 |
A |
G |
18: 73,875,434 (GRCm39) |
L199P |
probably damaging |
Het |
Elmod1 |
A |
C |
9: 53,842,831 (GRCm39) |
|
probably benign |
Het |
Ep400 |
A |
C |
5: 110,872,273 (GRCm39) |
|
probably benign |
Het |
F10 |
A |
T |
8: 13,098,196 (GRCm39) |
N133I |
probably damaging |
Het |
Fasn |
A |
G |
11: 120,706,141 (GRCm39) |
Y1068H |
probably benign |
Het |
Fbxo24 |
T |
C |
5: 137,622,819 (GRCm39) |
E12G |
probably damaging |
Het |
Fer |
G |
T |
17: 64,385,941 (GRCm39) |
L304F |
probably benign |
Het |
Filip1 |
A |
C |
9: 79,726,285 (GRCm39) |
L778R |
probably damaging |
Het |
Fli1 |
A |
T |
9: 32,335,277 (GRCm39) |
I385N |
probably benign |
Het |
Fpgs |
A |
T |
2: 32,582,506 (GRCm39) |
L89* |
probably null |
Het |
Gab2 |
T |
G |
7: 96,948,448 (GRCm39) |
I346R |
probably damaging |
Het |
Gm10764 |
G |
A |
10: 87,126,841 (GRCm39) |
G83R |
unknown |
Het |
Gpr83 |
G |
T |
9: 14,776,138 (GRCm39) |
C153F |
possibly damaging |
Het |
Gtf3c3 |
A |
G |
1: 54,442,695 (GRCm39) |
L783P |
possibly damaging |
Het |
Gys2 |
A |
G |
6: 142,418,394 (GRCm39) |
|
probably benign |
Het |
Heatr9 |
C |
T |
11: 83,404,164 (GRCm39) |
V378I |
possibly damaging |
Het |
Helz |
A |
T |
11: 107,528,740 (GRCm39) |
Y920F |
possibly damaging |
Het |
Inpp5f |
A |
T |
7: 128,296,907 (GRCm39) |
Q459L |
probably damaging |
Het |
Ints12 |
T |
C |
3: 132,814,806 (GRCm39) |
S338P |
probably benign |
Het |
Kif13a |
T |
C |
13: 46,944,827 (GRCm39) |
T925A |
probably benign |
Het |
Kif1a |
C |
T |
1: 92,969,815 (GRCm39) |
V1051I |
probably damaging |
Het |
Kif7 |
T |
A |
7: 79,349,308 (GRCm39) |
H1119L |
possibly damaging |
Het |
Kmt2d |
C |
T |
15: 98,748,018 (GRCm39) |
|
probably benign |
Het |
Krt90 |
C |
T |
15: 101,471,110 (GRCm39) |
G51S |
possibly damaging |
Het |
Krtap31-2 |
A |
T |
11: 99,827,572 (GRCm39) |
I135F |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,258,974 (GRCm39) |
E4572G |
probably benign |
Het |
Mapk8ip1 |
T |
C |
2: 92,216,289 (GRCm39) |
E493G |
probably damaging |
Het |
Matk |
T |
G |
10: 81,094,326 (GRCm39) |
L28V |
probably benign |
Het |
Mcc |
T |
A |
18: 44,892,366 (GRCm39) |
T83S |
probably benign |
Het |
Mtch1 |
A |
T |
17: 29,559,080 (GRCm39) |
M204K |
possibly damaging |
Het |
Muc4 |
T |
G |
16: 32,586,120 (GRCm39) |
C2622G |
possibly damaging |
Het |
Myo5a |
G |
A |
9: 75,093,405 (GRCm39) |
|
probably null |
Het |
Myoz3 |
T |
C |
18: 60,712,023 (GRCm39) |
Y185C |
probably damaging |
Het |
Nnmt |
A |
G |
9: 48,503,438 (GRCm39) |
V196A |
probably benign |
Het |
Nr2f2 |
G |
C |
7: 70,009,923 (GRCm39) |
P52R |
probably damaging |
Het |
Nup214 |
T |
A |
2: 31,888,069 (GRCm39) |
|
probably benign |
Het |
Or2aj4 |
T |
G |
16: 19,385,044 (GRCm39) |
E196D |
probably damaging |
Het |
Or2y13 |
T |
C |
11: 49,414,739 (GRCm39) |
L63P |
probably damaging |
Het |
Or4c126 |
T |
A |
2: 89,824,150 (GRCm39) |
F138I |
probably benign |
Het |
Pank3 |
T |
C |
11: 35,672,543 (GRCm39) |
|
probably benign |
Het |
Parm1 |
A |
T |
5: 91,742,153 (GRCm39) |
N174Y |
possibly damaging |
Het |
Pcgf2 |
A |
T |
11: 97,583,244 (GRCm39) |
|
probably null |
Het |
Pclo |
A |
T |
5: 14,825,434 (GRCm39) |
K4661M |
unknown |
Het |
Pcsk7 |
A |
C |
9: 45,827,357 (GRCm39) |
S375R |
probably damaging |
Het |
Pdzrn4 |
G |
T |
15: 92,668,200 (GRCm39) |
S784I |
possibly damaging |
Het |
Pex6 |
T |
A |
17: 47,034,663 (GRCm39) |
|
probably null |
Het |
Pi4ka |
C |
T |
16: 17,115,499 (GRCm39) |
V1384M |
probably benign |
Het |
Polr3f |
T |
A |
2: 144,378,195 (GRCm39) |
|
probably benign |
Het |
Ppp2r3d |
A |
T |
9: 101,089,483 (GRCm39) |
V280E |
probably damaging |
Het |
Prdm14 |
C |
T |
1: 13,192,672 (GRCm39) |
G356R |
probably damaging |
Het |
Prepl |
A |
G |
17: 85,372,466 (GRCm39) |
|
probably null |
Het |
Primpol |
T |
C |
8: 47,052,849 (GRCm39) |
D154G |
probably damaging |
Het |
Ptchd4 |
A |
C |
17: 42,814,307 (GRCm39) |
H736P |
probably damaging |
Het |
Rab11fip1 |
A |
G |
8: 27,642,253 (GRCm39) |
S849P |
probably damaging |
Het |
Rap1gap |
T |
A |
4: 137,446,662 (GRCm39) |
D405E |
probably damaging |
Het |
Rbm26 |
T |
C |
14: 105,369,374 (GRCm39) |
T686A |
probably benign |
Het |
Resf1 |
T |
C |
6: 149,227,739 (GRCm39) |
Y262H |
probably damaging |
Het |
Rint1 |
A |
G |
5: 24,021,930 (GRCm39) |
|
probably benign |
Het |
Rnasek |
G |
T |
11: 70,129,266 (GRCm39) |
Y62* |
probably null |
Het |
Rnf17 |
T |
G |
14: 56,719,541 (GRCm39) |
N930K |
possibly damaging |
Het |
Sap130 |
A |
G |
18: 31,813,734 (GRCm39) |
|
probably benign |
Het |
Sectm1b |
T |
A |
11: 120,946,611 (GRCm39) |
I95F |
probably damaging |
Het |
Sema4f |
A |
T |
6: 82,916,447 (GRCm39) |
I53N |
possibly damaging |
Het |
Shld1 |
T |
C |
2: 132,592,559 (GRCm39) |
V202A |
probably benign |
Het |
Siglec1 |
T |
C |
2: 130,927,396 (GRCm39) |
T137A |
probably damaging |
Het |
Six5 |
A |
C |
7: 18,830,947 (GRCm39) |
|
probably null |
Het |
Slc22a30 |
A |
T |
19: 8,322,721 (GRCm39) |
I345N |
probably benign |
Het |
Slc25a27 |
A |
T |
17: 43,954,518 (GRCm39) |
M316K |
probably benign |
Het |
Slc2a8 |
A |
T |
2: 32,870,116 (GRCm39) |
|
probably benign |
Het |
Snx1 |
G |
A |
9: 66,008,608 (GRCm39) |
|
probably benign |
Het |
Spag17 |
A |
G |
3: 99,992,684 (GRCm39) |
T1727A |
probably benign |
Het |
Spata20 |
T |
C |
11: 94,372,472 (GRCm39) |
D633G |
probably benign |
Het |
Spock1 |
C |
T |
13: 57,583,922 (GRCm39) |
|
probably null |
Het |
Sra1 |
A |
T |
18: 36,808,759 (GRCm39) |
Y291* |
probably null |
Het |
Sspo |
C |
A |
6: 48,470,120 (GRCm39) |
P4520T |
probably damaging |
Het |
Stat4 |
A |
G |
1: 52,051,016 (GRCm39) |
N25S |
probably benign |
Het |
Tbx18 |
A |
T |
9: 87,597,569 (GRCm39) |
|
probably benign |
Het |
Tfap2b |
A |
T |
1: 19,304,347 (GRCm39) |
I368F |
probably damaging |
Het |
Tmtc1 |
A |
T |
6: 148,148,335 (GRCm39) |
L711Q |
probably damaging |
Het |
Tmx3 |
T |
A |
18: 90,556,613 (GRCm39) |
|
probably benign |
Het |
Tnc |
G |
T |
4: 63,888,657 (GRCm39) |
T1803K |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Tpgs1 |
C |
T |
10: 79,511,700 (GRCm39) |
P281S |
probably benign |
Het |
Trim45 |
A |
G |
3: 100,837,160 (GRCm39) |
R499G |
probably benign |
Het |
Tulp3 |
A |
T |
6: 128,302,921 (GRCm39) |
Y299* |
probably null |
Het |
Ube4a |
A |
T |
9: 44,857,476 (GRCm39) |
|
probably benign |
Het |
Ubr3 |
T |
G |
2: 69,781,749 (GRCm39) |
S642R |
probably damaging |
Het |
Vcpip1 |
A |
T |
1: 9,817,431 (GRCm39) |
Y317* |
probably null |
Het |
Vmn1r115 |
G |
A |
7: 20,578,327 (GRCm39) |
T195I |
probably benign |
Het |
Vmn1r226 |
G |
A |
17: 20,907,839 (GRCm39) |
V24I |
probably benign |
Het |
Wdr41 |
C |
T |
13: 95,153,914 (GRCm39) |
A321V |
probably damaging |
Het |
Wfdc5 |
T |
C |
2: 164,020,755 (GRCm39) |
N44D |
probably benign |
Het |
Wnt7b |
C |
A |
15: 85,443,103 (GRCm39) |
|
probably null |
Het |
Zfp108 |
T |
C |
7: 23,961,208 (GRCm39) |
S600P |
possibly damaging |
Het |
Zfp267 |
A |
G |
3: 36,219,303 (GRCm39) |
H442R |
possibly damaging |
Het |
Zfp385b |
A |
G |
2: 77,246,072 (GRCm39) |
|
probably null |
Het |
Zfp395 |
T |
C |
14: 65,623,929 (GRCm39) |
S133P |
probably benign |
Het |
Zfp407 |
T |
A |
18: 84,576,836 (GRCm39) |
M1426L |
probably damaging |
Het |
Zfp641 |
T |
G |
15: 98,187,008 (GRCm39) |
N191T |
possibly damaging |
Het |
Zfp687 |
T |
C |
3: 94,918,864 (GRCm39) |
S303G |
probably damaging |
Het |
Zfp759 |
T |
A |
13: 67,286,877 (GRCm39) |
F143I |
possibly damaging |
Het |
Zgrf1 |
G |
C |
3: 127,409,095 (GRCm39) |
E1690Q |
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 |
|
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 |
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'- TTGGTATCTAAAAGGCCCGCCCTC -3'
(R):5'- AGGTTTGCCTCAAAGCATTGCATTG -3'
Sequencing Primer
(F):5'- GAGTTCCACCACTCAATCGTC -3'
(R):5'- GTGGGGCTCAAATCTCAGG -3'
|
Posted On |
2013-05-23 |