Mutagenetix > Incidental Mutation

Incidental Mutation 'R5011:Tert'

390536

Institutional Source

Beutler Lab

Gene Symbol

Tert

Ensembl Gene

ENSMUSG00000021611

Gene Name

telomerase reverse transcriptase

Synonyms

MMRRC Submission

042602-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.537) question?

Stock #

R5011 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73775030-73797962 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 73794428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022104 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022104] [ENSMUST00000221522] [ENSMUST00000223303]

AlphaFold

O70372

Predicted Effect

probably null
Transcript: ENSMUST00000022104

SMART Domains

Protein: ENSMUSP00000022104
Gene: ENSMUSG00000021611

Domain	Start	End	E-Value	Type
Blast:Telomerase_RBD	329	375	2e-6	BLAST
Telomerase_RBD	449	584	5.02e-75	SMART
Blast:Telomerase_RBD	651	688	1e-5	BLAST
Pfam:RVT_1	787	918	6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000221522

Predicted Effect

probably benign
Transcript: ENSMUST00000222251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222912

Predicted Effect

probably benign
Transcript: ENSMUST00000223303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223325

Meta Mutation Damage Score

0.9497

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (104/104)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: In spite of impaired telomerase function, homozygous mutant mice are overtly normal in early generations. Impaired fertility has been reported in later generations for homozygotes of at least one knockout allele. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	T	C	11: 106,919,324 (GRCm39)	V223A	probably damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Ahctf1	A	T	1: 179,611,675 (GRCm39)	I565N	possibly damaging	Het
Ank1	C	T	8: 23,572,300 (GRCm39)	T70I	probably damaging	Het
Atg16l1	C	A	1: 87,701,902 (GRCm39)	S248*	probably null	Het
Atp13a5	A	T	16: 29,169,566 (GRCm39)	L42Q	probably damaging	Het
Atxn1	T	C	13: 45,710,545 (GRCm39)	N796D	probably damaging	Het
C3	T	A	17: 57,530,236 (GRCm39)	Y455F	probably benign	Het
Card11	A	T	5: 140,862,275 (GRCm39)	D1007E	possibly damaging	Het
Cbr2	T	C	11: 120,621,697 (GRCm39)	D60G	possibly damaging	Het
Cgn	T	A	3: 94,683,455 (GRCm39)	E400V	probably null	Het
Chil3	T	A	3: 106,057,477 (GRCm39)	Y229F	possibly damaging	Het
Clcn2	G	A	16: 20,525,965 (GRCm39)	P785S	probably damaging	Het
Clk1	T	C	1: 58,453,642 (GRCm39)	I315V	probably benign	Het
Cops6	A	G	5: 138,160,459 (GRCm39)	D102G	probably benign	Het
Dennd5a	A	G	7: 109,513,983 (GRCm39)	I743T	possibly damaging	Het
Dnaaf5	T	A	5: 139,149,012 (GRCm39)	L437Q	probably damaging	Het
Dnah12	T	A	14: 26,431,326 (GRCm39)	D381E	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Draxin	C	A	4: 148,192,436 (GRCm39)	R292L	probably damaging	Het
Dst	T	C	1: 34,289,728 (GRCm39)	V5776A	probably damaging	Het
Eddm13	G	A	7: 6,269,332 (GRCm39)		probably benign	Het
Ercc4	G	A	16: 12,941,445 (GRCm39)		probably benign	Het
Eya1	T	A	1: 14,254,582 (GRCm39)	N417Y	probably damaging	Het
Fam149b	T	A	14: 20,413,439 (GRCm39)	H219Q	possibly damaging	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fat1	A	T	8: 45,484,300 (GRCm39)		probably null	Het
Fbxl18	A	G	5: 142,872,435 (GRCm39)	S267P	probably damaging	Het
Fer1l4	T	C	2: 155,873,135 (GRCm39)	Y1315C	probably damaging	Het
Fgd2	T	C	17: 29,593,954 (GRCm39)		probably null	Het
Gm7251	T	A	13: 49,958,656 (GRCm39)		noncoding transcript	Het
Golt1a	T	C	1: 133,248,006 (GRCm39)	V78A	probably damaging	Het
Gsn	T	A	2: 35,188,933 (GRCm39)	Y440N	probably damaging	Het
Gtf2ird2	G	T	5: 134,245,824 (GRCm39)	S694I	possibly damaging	Het
H2-Ob	T	A	17: 34,460,253 (GRCm39)		probably null	Het
Hsp90b1	T	C	10: 86,532,617 (GRCm39)	D353G	probably benign	Het
Ilk	A	G	7: 105,391,456 (GRCm39)	D374G	probably damaging	Het
Invs	G	A	4: 48,421,807 (GRCm39)	R813Q	probably damaging	Het
Itga7	G	A	10: 128,785,316 (GRCm39)	V836M	possibly damaging	Het
Itln1	T	A	1: 171,360,958 (GRCm39)	K45*	probably null	Het
Ivd	A	G	2: 118,710,946 (GRCm39)	Y385C	probably damaging	Het
Ivns1abp	T	A	1: 151,238,953 (GRCm39)	M589K	possibly damaging	Het
Jakmip3	C	T	7: 138,621,951 (GRCm39)	R284W	probably damaging	Het
Kank3	T	C	17: 34,041,044 (GRCm39)	L512P	probably damaging	Het
Kcnn2	T	A	18: 45,818,352 (GRCm39)	I483N	possibly damaging	Het
Klk1b4	A	G	7: 43,860,492 (GRCm39)	N170S	probably benign	Het
Klk1b9	A	C	7: 43,445,419 (GRCm39)	D203A	probably damaging	Het
Lbr	A	T	1: 181,647,453 (GRCm39)	Y199*	probably null	Het
Lcn6	T	A	2: 25,567,082 (GRCm39)		probably null	Het
Lrriq1	T	C	10: 103,025,784 (GRCm39)	D946G	probably damaging	Het
Ltbp1	T	A	17: 75,373,152 (GRCm39)	L265H	probably damaging	Het
Maml3	A	T	3: 51,598,196 (GRCm39)	N183K	possibly damaging	Het
Mprip	T	C	11: 59,650,721 (GRCm39)	V1475A	possibly damaging	Het
Myh4	C	A	11: 67,147,189 (GRCm39)	S1611R	probably benign	Het
Nagpa	A	T	16: 5,013,743 (GRCm39)	M365K	probably benign	Het
Nckap5l	G	T	15: 99,324,457 (GRCm39)	P682Q	probably benign	Het
Nudt12	T	C	17: 59,303,499 (GRCm39)		probably benign	Het
Nup153	T	C	13: 46,840,879 (GRCm39)	T910A	possibly damaging	Het
Or1e31	T	A	11: 73,690,473 (GRCm39)	T37S	possibly damaging	Het
Or5ae2	T	C	7: 84,505,646 (GRCm39)	V23A	probably damaging	Het
Or7c74	A	G	2: 37,160,937 (GRCm39)		noncoding transcript	Het
Or8k53	A	T	2: 86,177,647 (GRCm39)	F154L	probably benign	Het
Pate14	T	C	9: 36,549,120 (GRCm39)	N47D	probably benign	Het
Pbx2	T	A	17: 34,813,673 (GRCm39)	C224*	probably null	Het
Pcdha6	A	G	18: 37,100,960 (GRCm39)	D51G	probably damaging	Het
Pnpla1	C	T	17: 29,104,558 (GRCm39)	T538I	possibly damaging	Het
Pnpla2	T	C	7: 141,039,204 (GRCm39)		probably null	Het
Psme2b	C	T	11: 48,836,654 (GRCm39)	E98K	probably benign	Het
Ranbp2	T	A	10: 58,297,717 (GRCm39)	S375T	probably benign	Het
Rimbp2	T	C	5: 128,880,985 (GRCm39)	Y134C	probably damaging	Het
Ryr1	G	A	7: 28,802,234 (GRCm39)		probably null	Het
Sh3tc1	G	T	5: 35,857,633 (GRCm39)	A1185D	probably damaging	Het
Sin3b	G	A	8: 73,471,184 (GRCm39)	S377N	probably benign	Het
Slc28a2	T	C	2: 122,288,371 (GRCm39)	M554T	possibly damaging	Het
Snhg11	T	C	2: 158,218,872 (GRCm39)		probably benign	Het
Spink5	A	T	18: 44,139,479 (GRCm39)	N614I	probably damaging	Het
Thap4	T	C	1: 93,677,598 (GRCm39)	Y396C	probably damaging	Het
Tle2	T	C	10: 81,420,531 (GRCm39)	L348P	probably damaging	Het
Tmem104	T	C	11: 115,134,312 (GRCm39)	S283P	probably damaging	Het
Tnn	T	C	1: 159,953,949 (GRCm39)	E602G	possibly damaging	Het
Tpm4	A	G	8: 72,900,938 (GRCm39)	K190R	probably benign	Het
Ttf2	T	C	3: 100,870,485 (GRCm39)	E196G	probably benign	Het
Ugt3a1	T	C	15: 9,365,373 (GRCm39)	W329R	probably damaging	Het
Unc13a	G	A	8: 72,094,121 (GRCm39)	Q1327*	probably null	Het
Vmn1r194	C	T	13: 22,429,058 (GRCm39)	T225I	probably benign	Het
Vmn1r215	T	C	13: 23,260,721 (GRCm39)	S254P	probably damaging	Het
Vmn2r109	T	C	17: 20,775,451 (GRCm39)	E92G	probably damaging	Het
Ythdc2	A	G	18: 44,987,809 (GRCm39)	M625V	probably benign	Het
Zfp106	A	G	2: 120,341,015 (GRCm39)	W1832R	probably damaging	Het
Zfp189	G	A	4: 49,530,438 (GRCm39)	G514S	probably damaging	Het
Zfp768	T	C	7: 126,942,875 (GRCm39)	R418G	probably damaging	Het
Zmynd11	C	T	13: 9,739,479 (GRCm39)		probably benign	Het

Other mutations in Tert

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01286:Tert	APN	13	73,776,416 (GRCm39)	missense	possibly damaging	0.76
IGL01585:Tert	APN	13	73,782,463 (GRCm39)	missense	probably benign	0.15
IGL03167:Tert	APN	13	73,788,119 (GRCm39)	missense	probably damaging	1.00
galileo	UTSW	13	73,775,725 (GRCm39)	missense	probably damaging	1.00
FR4304:Tert	UTSW	13	73,796,421 (GRCm39)	utr 3 prime	probably benign
FR4342:Tert	UTSW	13	73,796,419 (GRCm39)	utr 3 prime	probably benign
FR4589:Tert	UTSW	13	73,796,423 (GRCm39)	utr 3 prime	probably benign
PIT4377001:Tert	UTSW	13	73,776,380 (GRCm39)	missense	possibly damaging	0.54
R0372:Tert	UTSW	13	73,797,110 (GRCm39)	missense	probably damaging	1.00
R0433:Tert	UTSW	13	73,775,200 (GRCm39)	missense	probably damaging	1.00
R0829:Tert	UTSW	13	73,792,504 (GRCm39)	missense	probably damaging	1.00
R1023:Tert	UTSW	13	73,790,178 (GRCm39)	missense	probably benign	0.41
R1236:Tert	UTSW	13	73,784,498 (GRCm39)	missense	probably damaging	0.99
R1331:Tert	UTSW	13	73,796,473 (GRCm39)	missense	probably damaging	1.00
R1426:Tert	UTSW	13	73,790,472 (GRCm39)	splice site	probably benign
R1467:Tert	UTSW	13	73,776,328 (GRCm39)	missense	probably benign	0.10
R1467:Tert	UTSW	13	73,776,328 (GRCm39)	missense	probably benign	0.10
R1521:Tert	UTSW	13	73,790,175 (GRCm39)	missense	probably damaging	1.00
R2484:Tert	UTSW	13	73,796,104 (GRCm39)	missense	probably benign
R3162:Tert	UTSW	13	73,775,528 (GRCm39)	missense	possibly damaging	0.45
R3162:Tert	UTSW	13	73,775,528 (GRCm39)	missense	possibly damaging	0.45
R4428:Tert	UTSW	13	73,775,594 (GRCm39)	missense	probably damaging	1.00
R4430:Tert	UTSW	13	73,775,594 (GRCm39)	missense	probably damaging	1.00
R4431:Tert	UTSW	13	73,775,594 (GRCm39)	missense	probably damaging	1.00
R4630:Tert	UTSW	13	73,797,110 (GRCm39)	missense	probably damaging	1.00
R4696:Tert	UTSW	13	73,775,939 (GRCm39)	missense	probably benign	0.25
R4751:Tert	UTSW	13	73,776,182 (GRCm39)	missense	possibly damaging	0.89
R4926:Tert	UTSW	13	73,796,508 (GRCm39)	missense	possibly damaging	0.62
R5013:Tert	UTSW	13	73,794,428 (GRCm39)	critical splice donor site	probably null
R5061:Tert	UTSW	13	73,782,397 (GRCm39)	missense	probably damaging	1.00
R5268:Tert	UTSW	13	73,775,473 (GRCm39)	missense	probably damaging	1.00
R5323:Tert	UTSW	13	73,796,490 (GRCm39)	missense	probably benign	0.07
R5396:Tert	UTSW	13	73,787,362 (GRCm39)	missense	probably damaging	0.97
R5445:Tert	UTSW	13	73,792,403 (GRCm39)	missense	probably benign	0.00
R5680:Tert	UTSW	13	73,790,470 (GRCm39)	splice site	probably null
R5688:Tert	UTSW	13	73,787,275 (GRCm39)	missense	probably damaging	1.00
R6092:Tert	UTSW	13	73,776,700 (GRCm39)	missense	probably benign	0.34
R6973:Tert	UTSW	13	73,776,107 (GRCm39)	missense	probably benign	0.02
R7069:Tert	UTSW	13	73,776,529 (GRCm39)	missense	probably damaging	0.99
R7317:Tert	UTSW	13	73,790,495 (GRCm39)	missense	probably damaging	1.00
R7747:Tert	UTSW	13	73,775,725 (GRCm39)	missense	probably damaging	1.00
R7787:Tert	UTSW	13	73,797,051 (GRCm39)	missense	probably damaging	0.99
R7846:Tert	UTSW	13	73,776,314 (GRCm39)	missense	probably damaging	1.00
R7994:Tert	UTSW	13	73,797,074 (GRCm39)	missense	probably benign	0.20
R8042:Tert	UTSW	13	73,775,264 (GRCm39)	missense	probably damaging	1.00
R8044:Tert	UTSW	13	73,783,568 (GRCm39)	missense	probably damaging	1.00
R8867:Tert	UTSW	13	73,776,566 (GRCm39)	missense	probably benign
R9181:Tert	UTSW	13	73,785,294 (GRCm39)	intron	probably benign
R9412:Tert	UTSW	13	73,797,046 (GRCm39)	missense	probably benign	0.03
R9745:Tert	UTSW	13	73,784,609 (GRCm39)	missense	probably damaging	0.96
R9790:Tert	UTSW	13	73,775,648 (GRCm39)	missense	probably benign	0.21
R9791:Tert	UTSW	13	73,775,648 (GRCm39)	missense	probably benign	0.21
R9792:Tert	UTSW	13	73,792,442 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TCTAAGCCTGCCTTGTGTG -3'
(R):5'- AGGGTGAATGCTCAGGGATC -3'

Sequencing Primer
(F):5'- CACTGATGTCGGTCTCTCAGGAG -3'
(R):5'- TGAATGCTCAGGGATCCTCAGTAC -3'

Posted On

2016-06-06