Mutagenetix > Incidental Mutation

Incidental Mutation 'R5013:Tert'

390664

Institutional Source

Beutler Lab

Gene Symbol

Tert

Ensembl Gene

ENSMUSG00000021611

Gene Name

telomerase reverse transcriptase

Synonyms

MMRRC Submission

042604-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.537) question?

Stock #

R5013 (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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (86/86)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,303,926 (GRCm39)	L2117P	probably damaging	Het
Ago3	A	T	4: 126,262,391 (GRCm39)	S386R	probably benign	Het
Agxt	T	C	1: 93,069,779 (GRCm39)		probably benign	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
Anxa1	A	G	19: 20,360,287 (GRCm39)	V108A	probably benign	Het
Aqp3	A	G	4: 41,093,819 (GRCm39)	F225L	probably damaging	Het
Atp11b	T	G	3: 35,888,532 (GRCm39)	I934R	possibly damaging	Het
Atp13a5	A	T	16: 29,169,566 (GRCm39)	L42Q	probably damaging	Het
Bcr	A	G	10: 74,960,898 (GRCm39)	D443G	probably benign	Het
Cbfa2t3	G	T	8: 123,365,598 (GRCm39)	D211E	possibly damaging	Het
Ccdc146	A	T	5: 21,538,036 (GRCm39)	L96Q	probably damaging	Het
Cdh16	A	G	8: 105,343,660 (GRCm39)	I612T	probably damaging	Het
Clcn2	G	A	16: 20,525,965 (GRCm39)	P785S	probably damaging	Het
Dennd5a	A	G	7: 109,513,983 (GRCm39)	I743T	possibly 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
Dnajc2	G	A	5: 21,962,771 (GRCm39)	R521*	probably null	Het
Dst	T	C	1: 34,289,728 (GRCm39)	V5776A	probably damaging	Het
Eddm13	G	A	7: 6,269,332 (GRCm39)		probably benign	Het
Eif1ad19	T	A	12: 87,740,512 (GRCm39)	K16*	probably null	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
Fbxw17	C	T	13: 50,586,506 (GRCm39)	R403C	probably benign	Het
Fer1l4	T	C	2: 155,873,135 (GRCm39)	Y1315C	probably damaging	Het
Gatd1	G	T	7: 140,988,861 (GRCm39)		probably benign	Het
Gm10330	A	T	12: 23,829,961 (GRCm39)	Y73*	probably null	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsn	T	A	2: 35,188,933 (GRCm39)	Y440N	probably damaging	Het
Hdc	C	T	2: 126,446,220 (GRCm39)	E180K	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
Itln1	T	A	1: 171,360,958 (GRCm39)	K45*	probably null	Het
Ivd	A	G	2: 118,710,946 (GRCm39)	Y385C	probably 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
Lamtor3	A	T	3: 137,630,909 (GRCm39)	R27S	probably damaging	Het
Lcn6	T	A	2: 25,567,082 (GRCm39)		probably null	Het
Lrriq1	T	C	10: 103,025,784 (GRCm39)	D946G	probably damaging	Het
Morc1	A	G	16: 48,322,699 (GRCm39)	D332G	probably benign	Het
Myo15a	T	C	11: 60,382,493 (GRCm39)	I1523T	probably damaging	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
Nfix	A	G	8: 85,498,713 (GRCm39)	F87L	possibly damaging	Het
Nup155	C	A	15: 8,153,722 (GRCm39)	T421K	probably benign	Het
Or5ac25	A	T	16: 59,182,067 (GRCm39)	N171K	probably 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
Pds5a	A	C	5: 65,792,680 (GRCm39)	V751G	probably benign	Het
Podnl1	G	T	8: 84,852,965 (GRCm39)	C45F	probably damaging	Het
Psme2b	C	T	11: 48,836,654 (GRCm39)	E98K	probably benign	Het
Ptprk	T	A	10: 28,427,713 (GRCm39)	I764N	probably damaging	Het
Rbm33	A	T	5: 28,547,409 (GRCm39)	Q193L	probably benign	Het
Rnasel	C	A	1: 153,629,677 (GRCm39)	H64Q	probably damaging	Het
Ryr1	G	A	7: 28,802,234 (GRCm39)		probably null	Het
Scamp3	A	G	3: 89,088,216 (GRCm39)		probably benign	Het
Sema6b	C	T	17: 56,439,497 (GRCm39)		probably null	Het
Six4	A	C	12: 73,150,400 (GRCm39)	I715R	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
Spdya	A	T	17: 71,869,499 (GRCm39)	Y98F	possibly damaging	Het
Tex22	G	A	12: 113,052,104 (GRCm39)	C54Y	probably damaging	Het
Tmem198b	C	T	10: 128,637,942 (GRCm39)	R207H	probably damaging	Het
Trbv13-1	C	T	6: 41,093,189 (GRCm39)	Q42*	probably null	Het
Trcg1	T	C	9: 57,149,562 (GRCm39)	L378P	probably damaging	Het
Trpv5	T	G	6: 41,636,647 (GRCm39)	D433A	probably damaging	Het
Ube3b	A	G	5: 114,545,702 (GRCm39)	N654D	probably damaging	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Vwa7	A	T	17: 35,241,709 (GRCm39)	Y448F	probably damaging	Het
Zan	A	C	5: 137,382,099 (GRCm39)	D5149E	unknown	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
Zhx1	G	A	15: 57,917,538 (GRCm39)	T236I	possibly damaging	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
R5011: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