Incidental Mutation 'R5057:Tep1'
| ID |
390978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tep1
|
| Ensembl Gene |
ENSMUSG00000006281 |
| Gene Name |
telomerase associated protein 1 |
| Synonyms |
Tp1 |
| MMRRC Submission |
042647-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5057 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
51061516-51108017 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51066456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 2335
(Y2335H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006444]
[ENSMUST00000227526]
|
| AlphaFold |
P97499 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006444
AA Change: Y2335H
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000006444
Gene: ENSMUSG00000006281
AA Change: Y2335H
| 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 benign
Transcript: ENSMUST00000226222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226430
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227228
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227526
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228562
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.0%
|
| Validation Efficiency |
97% (118/122) |
| 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: 120 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
T |
11: 72,057,581 (GRCm39) |
H739Q |
probably benign |
Het |
| Acad12 |
T |
A |
5: 121,748,152 (GRCm39) |
T89S |
probably benign |
Het |
| Adgb |
A |
G |
10: 10,233,722 (GRCm39) |
C1252R |
probably benign |
Het |
| Ankef1 |
A |
G |
2: 136,392,280 (GRCm39) |
|
probably null |
Het |
| Ankfy1 |
T |
C |
11: 72,650,745 (GRCm39) |
L976P |
probably damaging |
Het |
| Ankib1 |
T |
A |
5: 3,784,011 (GRCm39) |
I322F |
possibly damaging |
Het |
| Ankrd61 |
T |
A |
5: 143,831,613 (GRCm39) |
T64S |
probably benign |
Het |
| Anxa6 |
T |
G |
11: 54,892,062 (GRCm39) |
E298A |
possibly damaging |
Het |
| Apc2 |
A |
G |
10: 80,144,903 (GRCm39) |
S605G |
probably damaging |
Het |
| Arih1 |
T |
C |
9: 59,393,515 (GRCm39) |
N39S |
unknown |
Het |
| Bicc1 |
A |
G |
10: 70,783,713 (GRCm39) |
S393P |
possibly damaging |
Het |
| Bptf |
A |
T |
11: 106,973,354 (GRCm39) |
F693L |
probably damaging |
Het |
| Cacng4 |
A |
G |
11: 107,685,197 (GRCm39) |
Y32H |
probably damaging |
Het |
| Ccdc50 |
T |
A |
16: 27,257,092 (GRCm39) |
D252E |
probably benign |
Het |
| Ccdc92b |
C |
A |
11: 74,528,976 (GRCm39) |
T160K |
probably damaging |
Het |
| Cd163 |
C |
T |
6: 124,302,247 (GRCm39) |
T937I |
probably damaging |
Het |
| Cdh22 |
C |
A |
2: 164,958,063 (GRCm39) |
V635F |
probably damaging |
Het |
| Cenpe |
G |
T |
3: 134,926,074 (GRCm39) |
A243S |
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,233,979 (GRCm39) |
H2272Q |
probably benign |
Het |
| Cgnl1 |
A |
T |
9: 71,632,076 (GRCm39) |
V425D |
probably damaging |
Het |
| Clec4b2 |
A |
T |
6: 123,177,915 (GRCm39) |
S77C |
probably null |
Het |
| Cntnap5a |
C |
T |
1: 115,612,943 (GRCm39) |
T26I |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,743,852 (GRCm39) |
K165R |
possibly damaging |
Het |
| Copb1 |
A |
T |
7: 113,825,997 (GRCm39) |
N662K |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,865,104 (GRCm39) |
R1458* |
probably null |
Het |
| Cspp1 |
T |
A |
1: 10,145,186 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
A |
G |
2: 5,924,324 (GRCm39) |
C430R |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,186,690 (GRCm39) |
E1847G |
probably damaging |
Het |
| Dync2i1 |
A |
T |
12: 116,177,033 (GRCm39) |
N856K |
probably benign |
Het |
| Eif1ad16 |
A |
T |
12: 87,985,481 (GRCm39) |
S21T |
unknown |
Het |
| Ephb3 |
A |
G |
16: 21,039,197 (GRCm39) |
D351G |
probably damaging |
Het |
| Exd2 |
T |
A |
12: 80,543,564 (GRCm39) |
N582K |
probably damaging |
Het |
| Fam161a |
T |
A |
11: 22,970,397 (GRCm39) |
C192S |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,308,615 (GRCm39) |
V149A |
probably benign |
Het |
| Fbxw16 |
A |
G |
9: 109,270,232 (GRCm39) |
S170P |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,990,802 (GRCm39) |
R965* |
probably null |
Het |
| Frem2 |
T |
C |
3: 53,442,617 (GRCm39) |
D2640G |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,380,877 (GRCm39) |
V664A |
probably damaging |
Het |
| Gm10803 |
A |
C |
2: 93,394,517 (GRCm39) |
L96F |
probably damaging |
Het |
| Gm14569 |
T |
C |
X: 35,694,470 (GRCm39) |
D1413G |
probably benign |
Het |
| Gm44501 |
A |
G |
17: 40,889,563 (GRCm39) |
T26A |
probably benign |
Het |
| Gpc4 |
G |
A |
X: 51,163,440 (GRCm39) |
R148C |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,215,369 (GRCm39) |
R277Q |
probably damaging |
Het |
| Inmt |
T |
A |
6: 55,151,883 (GRCm39) |
H29L |
probably benign |
Het |
| Insrr |
T |
A |
3: 87,722,572 (GRCm39) |
C1265S |
probably benign |
Het |
| Kctd12 |
A |
G |
14: 103,219,045 (GRCm39) |
F278L |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lag3 |
T |
A |
6: 124,882,318 (GRCm39) |
I393F |
possibly damaging |
Het |
| Lama2 |
C |
T |
10: 27,040,982 (GRCm39) |
C1447Y |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,665,005 (GRCm39) |
G2275S |
probably null |
Het |
| Lrrc17 |
A |
T |
5: 21,780,307 (GRCm39) |
H427L |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,856,558 (GRCm39) |
S164T |
probably damaging |
Het |
| Milr1 |
A |
G |
11: 106,657,791 (GRCm39) |
D131G |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,208,155 (GRCm39) |
T1630S |
probably damaging |
Het |
| Nbeal2 |
A |
T |
9: 110,460,073 (GRCm39) |
N1848K |
probably damaging |
Het |
| Ncor2 |
A |
T |
5: 125,125,130 (GRCm39) |
V307E |
possibly damaging |
Het |
| Ndufs3 |
C |
A |
2: 90,729,004 (GRCm39) |
A161S |
probably benign |
Het |
| Neo1 |
T |
C |
9: 58,897,554 (GRCm39) |
D134G |
probably damaging |
Het |
| Nexmif |
A |
T |
X: 103,130,956 (GRCm39) |
N320K |
probably damaging |
Het |
| Nipal3 |
T |
A |
4: 135,194,167 (GRCm39) |
I289F |
probably damaging |
Het |
| Nrg4 |
A |
G |
9: 55,189,880 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
A |
T |
12: 89,221,804 (GRCm39) |
I528F |
probably damaging |
Het |
| Or11h23 |
A |
C |
14: 50,948,669 (GRCm39) |
N294T |
probably damaging |
Het |
| Or3a10 |
T |
A |
11: 73,935,881 (GRCm39) |
D73V |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,597,407 (GRCm39) |
|
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,581,930 (GRCm39) |
I935M |
possibly damaging |
Het |
| Pik3c2a |
G |
T |
7: 115,975,518 (GRCm39) |
T683K |
possibly damaging |
Het |
| Pip5k1c |
G |
A |
10: 81,146,723 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
G |
A |
8: 117,781,747 (GRCm39) |
T766I |
probably benign |
Het |
| Polr3c |
C |
A |
3: 96,619,373 (GRCm39) |
L508F |
probably damaging |
Het |
| Por |
A |
G |
5: 135,759,756 (GRCm39) |
D189G |
probably damaging |
Het |
| Potefam1 |
A |
T |
2: 111,055,766 (GRCm39) |
F207I |
probably benign |
Het |
| Prim2 |
A |
T |
1: 33,669,441 (GRCm39) |
L178* |
probably null |
Het |
| Prima1 |
C |
A |
12: 103,168,864 (GRCm39) |
|
probably null |
Het |
| Ptpn21 |
G |
A |
12: 98,645,666 (GRCm39) |
R1091C |
probably damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,217,624 (GRCm39) |
T744I |
probably benign |
Het |
| Rad21 |
A |
T |
15: 51,830,102 (GRCm39) |
I503K |
probably benign |
Het |
| Rbm12 |
A |
T |
2: 155,938,806 (GRCm39) |
C489S |
probably benign |
Het |
| Rpl10a |
A |
T |
17: 28,549,607 (GRCm39) |
H140L |
probably benign |
Het |
| Rpl7-ps8 |
A |
T |
15: 59,083,004 (GRCm39) |
|
noncoding transcript |
Het |
| Rtbdn |
T |
C |
8: 85,681,638 (GRCm39) |
F143S |
probably damaging |
Het |
| Scamp3 |
T |
A |
3: 89,089,600 (GRCm39) |
|
probably benign |
Het |
| Setd5 |
A |
G |
6: 113,114,922 (GRCm39) |
S848G |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,863,979 (GRCm39) |
V487A |
probably damaging |
Het |
| Shc2 |
G |
A |
10: 79,459,706 (GRCm39) |
P413S |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,070,618 (GRCm39) |
N966S |
probably damaging |
Het |
| Slc39a8 |
A |
G |
3: 135,554,790 (GRCm39) |
E78G |
probably benign |
Het |
| Slc8a3 |
A |
G |
12: 81,246,332 (GRCm39) |
V900A |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,957,981 (GRCm39) |
T264A |
probably benign |
Het |
| Spire2 |
G |
A |
8: 124,084,940 (GRCm39) |
R260H |
probably damaging |
Het |
| Stk39 |
T |
A |
2: 68,051,292 (GRCm39) |
I518F |
probably damaging |
Het |
| Tardbp |
T |
A |
4: 148,703,813 (GRCm39) |
|
probably null |
Het |
| Tesl1 |
G |
A |
X: 23,773,480 (GRCm39) |
G327E |
probably damaging |
Het |
| Tll2 |
A |
G |
19: 41,105,705 (GRCm39) |
V358A |
probably benign |
Het |
| Tmem268 |
C |
G |
4: 63,486,777 (GRCm39) |
S100C |
probably damaging |
Het |
| Tnfsf9 |
A |
G |
17: 57,412,444 (GRCm39) |
T5A |
probably benign |
Het |
| Trappc10 |
G |
T |
10: 78,052,994 (GRCm39) |
F260L |
possibly damaging |
Het |
| Trim5 |
A |
G |
7: 103,914,630 (GRCm39) |
Y480H |
probably damaging |
Het |
| Trmt112 |
T |
C |
19: 6,888,121 (GRCm39) |
V91A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,577,379 (GRCm39) |
K22759* |
probably null |
Het |
| Ttn |
C |
A |
2: 76,748,988 (GRCm39) |
L4020F |
probably benign |
Het |
| Ubash3b |
A |
G |
9: 40,948,755 (GRCm39) |
C187R |
possibly damaging |
Het |
| Ube3b |
T |
C |
5: 114,544,318 (GRCm39) |
F572L |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,004,353 (GRCm39) |
V1332A |
probably damaging |
Het |
| Ubtd2 |
C |
A |
11: 32,466,320 (GRCm39) |
R180S |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,197,913 (GRCm39) |
S673P |
probably damaging |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,487 (GRCm39) |
D5V |
possibly damaging |
Het |
| Usp17la |
G |
A |
7: 104,510,330 (GRCm39) |
V312I |
possibly damaging |
Het |
| Usp17ld |
G |
T |
7: 102,899,655 (GRCm39) |
H426N |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,408,086 (GRCm39) |
|
probably benign |
Het |
| Vmn1r199 |
A |
T |
13: 22,567,575 (GRCm39) |
T290S |
possibly damaging |
Het |
| Vmn1r33 |
T |
C |
6: 66,589,089 (GRCm39) |
N155S |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,489,463 (GRCm39) |
I459L |
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,445,207 (GRCm39) |
K839N |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,589,819 (GRCm39) |
I699T |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,281,372 (GRCm39) |
S235G |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,192,641 (GRCm39) |
I421V |
possibly damaging |
Het |
| Xiap |
T |
C |
X: 41,183,342 (GRCm39) |
F23L |
probably benign |
Het |
| Xkr7 |
A |
G |
2: 152,896,300 (GRCm39) |
T385A |
probably benign |
Het |
| Znfx1 |
T |
C |
2: 166,881,746 (GRCm39) |
Y217C |
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 |
|
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'- TTGCCCGAAAGCAGACACAG -3'
(R):5'- TGGTGTCCGGAAATGAAGCC -3'
Sequencing Primer
(F):5'- GACAGATCCTAACAAAATGCTAGGCG -3'
(R):5'- TGACACTGTGGCAGCAAGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation