Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4342:Tert'

511287

Institutional Source

Beutler Lab

Gene Symbol

Tert

Ensembl Gene

ENSMUSG00000021611

Gene Name

telomerase reverse transcriptase

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.566) question?

Stock #

FR4342 ()

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

73775030-73797962 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

AGGCC to AGGCCAAGGGGGCC at 73796419 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152646 (fasta)

Gene Model

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

AlphaFold

O70372

Predicted Effect

probably benign
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

noncoding transcript
Transcript: ENSMUST00000222912

Predicted Effect

probably benign
Transcript: ENSMUST00000223303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223325

Coding Region Coverage

1x: 99.7%
3x: 99.4%
10x: 97.8%
20x: 93.8%

Validation Efficiency

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	TT	TTATGT	8: 125,566,572 (GRCm39)		probably null	Homo
4930433I11Rik	AACC	A	7: 40,642,479 (GRCm39)		probably benign	Het
7530416G11Rik	T	A	15: 85,378,508 (GRCm39)	E45V	unknown	Homo
Ankrd35	TCCCC	TCCC	3: 96,590,831 (GRCm39)		probably null	Het
Anxa2	CCC	CCCACC	9: 69,387,487 (GRCm39)		probably benign	Het
Anxa2	C	CCCA	9: 69,387,492 (GRCm39)		probably benign	Het
Apc	CAATAAAGC	CAATAAAGCAAATAAAGC	18: 34,415,052 (GRCm39)		probably benign	Homo
Arrb2	C	T	11: 70,329,497 (GRCm39)	T269M	probably damaging	Homo
Bcas3	G	A	11: 85,400,323 (GRCm39)	V431I	probably benign	Homo
Begain	CCCCGCC	CCCCGCCCCCGCC	12: 108,999,344 (GRCm39)		probably benign	Homo
Catsper2	TCA	TCAACA	2: 121,228,274 (GRCm39)		probably benign	Het
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Homo
Cd164	G	T	10: 41,397,922 (GRCm39)	A59S	probably benign	Homo
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Homo
Cimip2b	CAGAG	CAG	4: 43,427,384 (GRCm39)		probably null	Homo
Cluh	GAGCCT	GAGCCTCAGCCT	11: 74,560,350 (GRCm39)		probably benign	Het
Cluh	GCCTGA	GCCTGAACCTGA	11: 74,560,352 (GRCm39)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,080,401 (GRCm39)		probably benign	Het
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Het
Col6a5	A	T	9: 105,811,373 (GRCm39)	N715K	unknown	Homo
Cpeb4	T	TGA	11: 31,877,638 (GRCm39)		probably benign	Homo
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,465,733 (GRCm39)		probably benign	Het
Defa29	C	G	8: 21,816,160 (GRCm39)	R69P	probably benign	Het
Dhx8	CG	CGAGAACGG	11: 101,629,032 (GRCm39)		probably null	Het
Dnaaf9	TCC	TCCCCC	2: 130,612,662 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Homo
Dthd1	C	CTTA	5: 63,000,369 (GRCm39)		probably benign	Homo
E4f1	GC	GCCCC	17: 24,674,171 (GRCm39)		probably benign	Het
F830016B08Rik	A	ACAG	18: 60,433,013 (GRCm39)		probably benign	Homo
Fbrsl1	GTGTGTGTGCTGGTGCGTGTGCTGGTG	GTGTGTGTGCTGGTGTGTGTGCTGGTGCGTGTGCTGGTG	5: 110,525,991 (GRCm39)		probably benign	Het
Fbxo22	A	C	9: 55,128,354 (GRCm39)		probably null	Het
Flg	G	A	3: 93,197,820 (GRCm39)		probably benign	Het
Fmn1	TCC	TCCTCCACC	2: 113,356,128 (GRCm39)		probably benign	Homo
Frmpd2	G	T	14: 33,232,978 (GRCm39)	L399F	probably damaging	Homo
Gbp2b	A	G	3: 142,309,413 (GRCm39)	I175V	probably benign	Het
Gjc2	T	TCCCG	11: 59,073,569 (GRCm39)		probably benign	Homo
Gm14496	A	C	2: 181,637,699 (GRCm39)	K258Q	probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,031,960 (GRCm39)		probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,031,927 (GRCm39)		probably benign	Het
Gpatch11	AGAGGA	AGAGGATGAGGA	17: 79,149,607 (GRCm39)		probably benign	Het
H1f6	TGTGG	TG	13: 23,879,896 (GRCm39)		probably benign	Homo
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Homo
Hoxa3	G	GCTT	6: 52,147,110 (GRCm39)		probably benign	Homo
Ifi208	ATGGTG	ATG	1: 173,505,264 (GRCm39)		probably benign	Homo
Ighv5-9	C	T	12: 113,625,497 (GRCm39)	S82N	probably benign	Homo
Klra10	G	A	6: 130,249,710 (GRCm39)	R192C	probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,800 (GRCm39)		probably benign	Het
Krt10	CGCC	CGCCGCC	11: 99,277,025 (GRCm39)		probably benign	Het
Krt10	ACC	ACCCCC	11: 99,277,029 (GRCm39)		probably benign	Homo
Lce1m	CGCTGCTGCTGCCACAGCA	C	3: 92,925,554 (GRCm39)		probably benign	Het
Mak16	T	G,A	8: 31,651,777 (GRCm39)	E203D	probably benign	Homo
Med12l	AGC	AGCGGC	3: 59,183,409 (GRCm39)		probably benign	Het
Med12l	AGCGGC	AGCGGCGGC	3: 59,183,415 (GRCm39)		probably benign	Het
Mn1	AGC	AGCGGC	5: 111,567,572 (GRCm39)		probably benign	Het
Nacad	TC	TCAGGGGC	11: 6,549,762 (GRCm39)		probably benign	Het
Naip1	C	T	13: 100,561,979 (GRCm39)	R1062K	probably benign	Het
Ndel1	G	A	11: 68,724,235 (GRCm39)	P246L	probably damaging	Het
Nelfe	AC	ACAAAGAGCGGGATCGAGACAGAGCC	17: 35,073,065 (GRCm39)		probably benign	Het
Or51q1	TCC	TCCC	7: 103,629,110 (GRCm39)		probably null	Het
Or5p70	G	A	7: 107,995,105 (GRCm39)	M259I	probably benign	Het
Or5p70	A	G	7: 107,995,100 (GRCm39)	T258A	probably benign	Het
P4ha2	GTGTTGCTG	GTG	11: 54,001,077 (GRCm39)		probably benign	Homo
Pde3b	GGTGGTGGTG	GGTGGTGGTGGTG	7: 114,134,010 (GRCm39)		probably benign	Homo
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,006,820 (GRCm39)		probably benign	Homo
Phaf1	G	A	8: 105,967,730 (GRCm39)	G207E	probably benign	Homo
Plekhs1	AGAC	AGACCTCCCCCGCGAC	19: 56,468,293 (GRCm39)		probably benign	Homo
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,468,290 (GRCm39)		probably benign	Homo
Pramel16	AAGAG	AAG	4: 143,676,327 (GRCm39)		probably null	Het
Pramel16	G	A	4: 143,676,312 (GRCm39)	T264M	probably damaging	Het
Pramel27	AA	AATA	4: 143,578,213 (GRCm39)		probably null	Homo
Prkn	G	A	17: 12,073,650 (GRCm39)	V323M	probably damaging	Homo
Ptms	TCT	TCTCCT	6: 124,891,417 (GRCm39)		probably benign	Homo
Raet1d	A	G	10: 22,247,458 (GRCm39)	Q178R	probably benign	Het
Rtbdn	AGCG	AGCGCCGGCG	8: 85,682,797 (GRCm39)		probably benign	Het
Rtbdn	GC	GCAGCGCC	8: 85,682,807 (GRCm39)		probably benign	Het
Semp2l2a	G	C	8: 13,887,613 (GRCm39)	H159Q	probably benign	Het
Serac1	T	A	17: 6,121,083 (GRCm39)	K70N	probably damaging	Homo
Sfswap	CCCACTC	CCCACTCAGACCACTC	5: 129,646,821 (GRCm39)		probably benign	Homo
Sp110	ACT	ACTGCT	1: 85,515,209 (GRCm39)		probably benign	Het
Spaca1	GCTCTC	GCTCTCACTCTC	4: 34,049,838 (GRCm39)		probably benign	Het
Spag17	GGA	GGATGA	3: 99,963,565 (GRCm39)		probably benign	Het
Spag17	GGAGGAGGA	GGAGGAGGAGGA	3: 99,963,568 (GRCm39)		probably benign	Homo
Speer4a1	C	A	5: 26,241,746 (GRCm39)	E127*	probably null	Het
Sry	GGT	GGTTGT	Y: 2,662,836 (GRCm39)		probably benign	Het
Sry	TGG	TGGGGG	Y: 2,662,835 (GRCm39)		probably benign	Het
Sry	CTGCTGGTG	CTG	Y: 2,663,146 (GRCm39)		probably benign	Het
Sry	GGT	GGTAGT	Y: 2,662,839 (GRCm39)		probably benign	Homo
Tdpoz3	C	T	3: 93,733,819 (GRCm39)	P165S	probably benign	Het
Tdpoz4	GAA	GA	3: 93,704,187 (GRCm39)		probably null	Het
Tmbim7	C	T	5: 3,720,064 (GRCm39)	R100C	possibly damaging	Homo
Tnfrsf9	CT	CTGAT	4: 151,018,851 (GRCm39)		probably benign	Homo
Tob1	AGC	AGCCGC	11: 94,105,298 (GRCm39)		probably benign	Het
Trav6n-5	GCTT	G	14: 53,342,369 (GRCm39)		probably benign	Homo
Triobp	G	GTCA	15: 78,877,592 (GRCm39)		probably benign	Homo
Tsen2	AGG	AGGTGG	6: 115,537,033 (GRCm39)		probably benign	Het
Ubtf	TCC	TCCGCC	11: 102,197,782 (GRCm39)		probably benign	Het
Ubtf	TC	TCCCC	11: 102,197,785 (GRCm39)		probably benign	Het
Vmn2r125	G	A	4: 156,703,260 (GRCm39)	V213I	probably benign	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Homo
Zdhhc16	G	A	19: 41,930,588 (GRCm39)		probably benign	Het
Zfp28	G	A	7: 6,397,862 (GRCm39)	G766R	probably damaging	Het
Zfp335	GTCGTC	GTCGTCGTC	2: 164,749,385 (GRCm39)		probably benign	Het
Zfp335	C	CCCC	2: 164,749,397 (GRCm39)		probably benign	Het
Zfp428	G	A	7: 24,214,506 (GRCm39)	D41N	probably damaging	Homo
Zfp429	A	T	13: 67,544,769 (GRCm39)	F48Y	probably benign	Het
Zfp598	CCACC	CCACCCACACC	17: 24,899,754 (GRCm39)		probably benign	Het
Zfp93	G	A	7: 23,975,011 (GRCm39)	R332H	possibly damaging	Het
Zpld2	G	GCTC	4: 133,929,942 (GRCm39)		probably benign	Homo

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
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
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'- CAAGAATCCAGGTGCGTAGACG -3'
(R):5'- CTTTGGGTTCACCTAGGCAC -3'

Sequencing Primer
(F):5'- AAGGGCCAGCATTCTCACG -3'
(R):5'- GGTTCACCTAGGCACTCACTG -3'

Posted On

2018-04-05