Mutagenetix > Incidental Mutation

Incidental Mutation 'R0060:Tep1'

201413

Institutional Source

Beutler Lab

Gene Symbol

Tep1

Ensembl Gene

ENSMUSG00000006281

Gene Name

telomerase associated protein 1

Synonyms

Tp1

MMRRC Submission

038353-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0060 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

51061516-51108017 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51103486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 268 (D268V)

Ref Sequence

ENSEMBL: ENSMUSP00000006444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006444]

AlphaFold

P97499

Predicted Effect

probably damaging
Transcript: ENSMUST00000006444
AA Change: D268V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000006444
Gene: ENSMUSG00000006281
AA Change: D268V

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.0%

Validation Efficiency

98% (60/61)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	C	11: 58,313,008 (GRCm39)		probably benign	Het
A630091E08Rik	A	G	7: 98,192,875 (GRCm39)		noncoding transcript	Het
Abca8a	T	C	11: 109,961,306 (GRCm39)	T539A	probably damaging	Het
Ankrd60	A	T	2: 173,414,406 (GRCm39)	M1K	probably null	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Cabcoco1	A	T	10: 68,369,692 (GRCm39)		probably null	Het
Capn7	T	C	14: 31,087,561 (GRCm39)		probably benign	Het
Cd109	G	A	9: 78,610,389 (GRCm39)	E1145K	probably damaging	Het
Celsr1	A	T	15: 85,806,399 (GRCm39)	V2353D	probably damaging	Het
Cep350	C	T	1: 155,804,372 (GRCm39)	D904N	probably damaging	Het
Chl1	T	A	6: 103,688,019 (GRCm39)		probably benign	Het
Colec10	G	A	15: 54,302,542 (GRCm39)		probably benign	Het
Cst11	T	A	2: 148,612,322 (GRCm39)	Q105L	probably damaging	Het
Eps8l3	T	C	3: 107,786,857 (GRCm39)	L11S	probably damaging	Het
Gsdme	A	G	6: 50,198,009 (GRCm39)	I317T	possibly damaging	Het
Itgad	T	C	7: 127,802,158 (GRCm39)	S979P	probably damaging	Het
Mga	T	C	2: 119,791,442 (GRCm39)		probably null	Het
Nubpl	T	C	12: 52,357,470 (GRCm39)		probably benign	Het
Or2b4	T	C	17: 38,116,891 (GRCm39)	L285P	probably damaging	Het
Or5be3	T	C	2: 86,864,118 (GRCm39)	Y149C	probably damaging	Het
Pard3b	G	A	1: 61,678,474 (GRCm39)	E25K	probably damaging	Het
Phactr1	T	A	13: 42,836,197 (GRCm39)	Y8*	probably null	Het
Phf14	T	C	6: 11,953,316 (GRCm39)	S352P	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Prap1	G	T	7: 139,673,390 (GRCm39)		probably benign	Het
Prdm8	T	A	5: 98,333,119 (GRCm39)	F229I	probably benign	Het
Rfx6	T	C	10: 51,553,936 (GRCm39)	F11L	probably benign	Het
Rfx8	T	A	1: 39,757,565 (GRCm39)		probably benign	Het
Rif1	C	T	2: 52,001,129 (GRCm39)	R1528C	probably damaging	Het
Ripk4	G	A	16: 97,564,718 (GRCm39)		probably benign	Het
Satb1	T	A	17: 52,047,231 (GRCm39)	I695F	probably damaging	Het
Sema4d	A	G	13: 51,859,293 (GRCm39)		probably benign	Het
Slc30a4	T	A	2: 122,527,104 (GRCm39)	T381S	probably benign	Het
Suv39h2	T	C	2: 3,465,953 (GRCm39)	Y134C	probably damaging	Het
Tcerg1	C	T	18: 42,657,073 (GRCm39)	A185V	unknown	Het
Tmem89	T	A	9: 108,744,485 (GRCm39)	V126D	probably damaging	Het
Trf	T	C	9: 103,098,121 (GRCm39)	T46A	probably benign	Het
Trmt6	C	T	2: 132,648,689 (GRCm39)	R415Q	possibly damaging	Het
Trp53bp1	T	C	2: 121,035,006 (GRCm39)	K1625E	probably damaging	Het
Zcchc4	T	A	5: 52,964,420 (GRCm39)	I292N	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
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
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'- GAGCCAATAACCAGCTCTTCGTACC -3'
(R):5'- GGGAAAAGATCCCGTTTCCTGCTTC -3'

Sequencing Primer
(F):5'- TAACCAGCTCTTCGTACCATAATTAC -3'
(R):5'- tgggaggcagaggcagg -3'

Posted On

2014-06-06