Mutagenetix > Incidental Mutation

Incidental Mutation 'R9715:Tep1'

730414

Institutional Source

Beutler Lab

Gene Symbol

Tep1

Ensembl Gene

ENSMUSG00000006281

Gene Name

telomerase associated protein 1

Synonyms

Tp1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9715 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51061516-51108017 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51081759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1230 (H1230Q)

Ref Sequence

ENSEMBL: ENSMUSP00000006444 (fasta)

Gene Model

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

AlphaFold

P97499

Predicted Effect

SMART Domains

Protein: ENSMUSP00000006444
Gene: ENSMUSG00000006281
AA Change: H1230Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	C	T	7: 45,629,359 (GRCm39)	V1323I	probably damaging	Het
Adam20	G	A	8: 41,248,490 (GRCm39)	R200H	probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 8,984,393 (GRCm39)		probably benign	Het
Cbr3	A	G	16: 93,481,941 (GRCm39)	D99G	probably benign	Het
Ccdc17	T	A	4: 116,455,090 (GRCm39)	L215Q	probably damaging	Het
Cep350	A	G	1: 155,751,107 (GRCm39)	Y2022H	probably benign	Het
Cimip2c	G	C	5: 30,641,261 (GRCm39)	D170H	possibly damaging	Het
Cnbd2	T	C	2: 156,183,547 (GRCm39)	S338P	probably benign	Het
D5Ertd579e	A	T	5: 36,787,029 (GRCm39)	V113D	possibly damaging	Het
Dhx30	A	G	9: 109,916,718 (GRCm39)	F570S	probably damaging	Het
Ephb1	T	C	9: 101,848,384 (GRCm39)	N679S	probably damaging	Het
Faxc	T	C	4: 21,993,307 (GRCm39)	I317T	probably damaging	Het
Fgd5	T	C	6: 91,965,290 (GRCm39)	Y508H	possibly damaging	Het
Foxd2	G	T	4: 114,765,195 (GRCm39)	A275E	unknown	Het
Fut9	C	A	4: 25,620,679 (GRCm39)	S45I	probably benign	Het
Gm5148	T	C	3: 37,768,801 (GRCm39)	N140D	unknown	Het
Gpr37l1	C	T	1: 135,089,391 (GRCm39)	G225S	probably damaging	Het
Gramd1c	G	A	16: 43,825,840 (GRCm39)	S107L	possibly damaging	Het
Gtpbp2	A	G	17: 46,478,301 (GRCm39)	D483G		Het
Ik	G	A	18: 36,886,566 (GRCm39)	R346H	probably benign	Het
Ino80e	A	T	7: 126,461,098 (GRCm39)	Y50N	unknown	Het
Irag1	A	T	7: 110,470,640 (GRCm39)	S898T	possibly damaging	Het
Kbtbd2	A	G	6: 56,756,566 (GRCm39)	V390A	probably benign	Het
Limch1	A	C	5: 67,156,360 (GRCm39)	N276H	probably damaging	Het
Negr1	T	G	3: 156,774,936 (GRCm39)		probably null	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Nlrp14	G	A	7: 106,781,626 (GRCm39)	M274I	probably benign	Het
Nr1d1	T	C	11: 98,662,943 (GRCm39)	I17V	probably benign	Het
Or10ad1b	T	A	15: 98,124,902 (GRCm39)	D210V	probably damaging	Het
Or4k35	T	C	2: 111,100,623 (GRCm39)	I30V	probably benign	Het
Or5p64	A	G	7: 107,855,198 (GRCm39)	I49T	probably benign	Het
Ppip5k2	A	G	1: 97,677,312 (GRCm39)	V334A		Het
Ppp1r9a	G	A	6: 5,045,936 (GRCm39)	V467I	probably damaging	Het
Ppp2r2c	A	G	5: 37,097,488 (GRCm39)	I225V	possibly damaging	Het
Ptpro	A	T	6: 137,345,108 (GRCm39)	N38I	probably damaging	Het
Scn2a	C	A	2: 65,579,149 (GRCm39)	Q1495K	possibly damaging	Het
Scn7a	A	T	2: 66,519,902 (GRCm39)	Y1001N	possibly damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Sh3bgrl2	T	A	9: 83,430,513 (GRCm39)	M1K	probably null	Het
Slc25a12	C	T	2: 71,109,899 (GRCm39)	V516M	probably benign	Het
Sptbn4	A	G	7: 27,091,000 (GRCm39)	L1402P	probably damaging	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Svop	A	G	5: 114,198,169 (GRCm39)	S135P	probably benign	Het
Sycp2	G	T	2: 178,035,957 (GRCm39)	D243E	probably damaging	Het
Tcerg1	T	C	18: 42,706,413 (GRCm39)	F1030S	probably damaging	Het
Tecta	T	A	9: 42,286,596 (GRCm39)	N687Y	probably damaging	Het
Tfap2b	T	C	1: 19,284,373 (GRCm39)	S94P	probably damaging	Het
Tll2	C	A	19: 41,092,238 (GRCm39)	G533V	probably damaging	Het
Vmn2r55	A	G	7: 12,402,061 (GRCm39)	V409A	probably damaging	Het
Wdr41	A	G	13: 95,145,373 (GRCm39)	E194G	probably damaging	Het
Zan	G	T	5: 137,398,817 (GRCm39)	S4182R	unknown	Het
Zfpl1	T	C	19: 6,134,074 (GRCm39)	Y40C	probably damaging	Het
Znrf3	C	A	11: 5,232,454 (GRCm39)	R257L	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
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
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'- TGCCCCATCGATGATAAGGAC -3'
(R):5'- TCCGGGAGATTATGCACATAC -3'

Sequencing Primer
(F):5'- CCATCGATGATAAGGACCAAAGTCTG -3'
(R):5'- GGAGATTATGCACATACTGAAATGC -3'

Posted On

2022-10-06