Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02299:Tep1'

290236

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tep1

Ensembl Gene

ENSMUSG00000006281

Gene Name

telomerase associated protein 1

Synonyms

Tp1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02299

Quality Score

Status

Chromosome

Chromosomal Location

51061516-51108017 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51078128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1567 (L1567P)

Ref Sequence

ENSEMBL: ENSMUSP00000006444 (fasta)

Gene Model

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

AlphaFold

P97499

Predicted Effect

probably damaging
Transcript: ENSMUST00000006444
AA Change: L1567P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000006444
Gene: ENSMUSG00000006281
AA Change: L1567P

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: ENSMUST00000226430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227193

Coding Region Coverage

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot3	C	T	12: 84,105,585 (GRCm39)	Q351*	probably null	Het
Ano1	T	A	7: 144,143,812 (GRCm39)	H993L	possibly damaging	Het
Atp2c1	A	T	9: 105,338,286 (GRCm39)		probably benign	Het
Cd81	T	C	7: 142,619,015 (GRCm39)	I13T	probably damaging	Het
Clasp2	T	A	9: 113,709,057 (GRCm39)	D633E	probably damaging	Het
Ctif	T	C	18: 75,770,316 (GRCm39)	E23G	probably damaging	Het
Dnah3	G	T	7: 119,566,802 (GRCm39)	L2475I	probably benign	Het
Fscn2	A	G	11: 120,253,025 (GRCm39)	D164G	probably benign	Het
Igfn1	A	G	1: 135,881,755 (GRCm39)		probably benign	Het
Mast4	A	T	13: 102,874,482 (GRCm39)	S1629T	probably benign	Het
Mpp4	C	A	1: 59,197,738 (GRCm39)		probably benign	Het
Nmi	T	A	2: 51,848,976 (GRCm39)	N38I	probably damaging	Het
Nod2	T	A	8: 89,390,370 (GRCm39)	L226M	possibly damaging	Het
Notch4	T	C	17: 34,796,978 (GRCm39)	S909P	probably damaging	Het
Oas1a	A	T	5: 121,043,755 (GRCm39)	W126R	probably benign	Het
Pcdhb5	T	C	18: 37,453,943 (GRCm39)	F108L	probably benign	Het
Plxna4	G	A	6: 32,142,091 (GRCm39)	P1589S	probably benign	Het
Qtrt1	A	G	9: 21,323,245 (GRCm39)	E32G	probably benign	Het
S100a3	A	G	3: 90,509,562 (GRCm39)	E69G	possibly damaging	Het
Slc1a6	C	A	10: 78,629,137 (GRCm39)	P185T	probably damaging	Het
Slc8a3	T	A	12: 81,361,998 (GRCm39)	I274F	probably damaging	Het
Smc6	A	G	12: 11,340,752 (GRCm39)	N468S	probably benign	Het
Ugt2b37	G	A	5: 87,390,174 (GRCm39)	S424L	probably benign	Het
Urgcp	A	G	11: 5,667,573 (GRCm39)	L255P	probably damaging	Het
Vmn2r44	T	A	7: 8,380,815 (GRCm39)	K359N	probably benign	Het
Xpo1	T	A	11: 23,243,915 (GRCm39)		probably benign	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
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
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

Posted On

2015-04-16