Mutagenetix > Incidental Mutation

Incidental Mutation 'R9745:Tert'

732070

Institutional Source

Beutler Lab

Gene Symbol

Tert

Ensembl Gene

ENSMUSG00000021611

Gene Name

telomerase reverse transcriptase

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.566) question?

Stock #

R9745 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73775030-73797962 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73784609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 685 (L685Q)

Ref Sequence

ENSEMBL: ENSMUSP00000022104 (fasta)

Gene Model

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

AlphaFold

O70372

Predicted Effect

probably damaging
Transcript: ENSMUST00000022104
AA Change: L685Q

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022104
Gene: ENSMUSG00000021611
AA Change: L685Q

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

probably benign
Transcript: ENSMUST00000223303

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 99.1%
20x: 97.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	T	A	10: 126,919,380 (GRCm39)	H488Q	unknown	Het
Ces1b	T	C	8: 93,790,625 (GRCm39)	D388G	probably benign	Het
Ces1f	T	C	8: 93,989,740 (GRCm39)	D392G	probably benign	Het
Ces5a	A	G	8: 94,228,814 (GRCm39)	V472A	probably damaging	Het
Chst1	A	G	2: 92,444,047 (GRCm39)	D173G	possibly damaging	Het
Cngb1	T	G	8: 95,967,919 (GRCm39)	E1294A	unknown	Het
Cnmd	T	C	14: 79,887,850 (GRCm39)	I124V	possibly damaging	Het
Cntnap2	A	T	6: 46,211,100 (GRCm39)	M505L	probably benign	Het
Cntnap4	T	A	8: 113,391,808 (GRCm39)	M91K	possibly damaging	Het
Cstad	A	G	2: 30,498,197 (GRCm39)	T11A	unknown	Het
Cyp2j6	A	T	4: 96,441,621 (GRCm39)	V23E	possibly damaging	Het
Dapk3	C	A	10: 81,028,594 (GRCm39)	T388K	unknown	Het
Dennd6a	G	A	14: 26,320,818 (GRCm39)	G120R	possibly damaging	Het
Disp1	A	C	1: 182,869,310 (GRCm39)	S1037A	probably damaging	Het
Dpcd	A	T	19: 45,560,881 (GRCm39)	Q103L	probably benign	Het
Egfem1	A	T	3: 29,716,532 (GRCm39)	D334V	probably damaging	Het
Egflam	C	T	15: 7,333,419 (GRCm39)	V178M	probably benign	Het
Ehbp1	T	C	11: 22,096,692 (GRCm39)	T291A	probably benign	Het
Eif5b	G	T	1: 38,084,729 (GRCm39)	V859F	probably damaging	Het
Fam161a	A	T	11: 22,973,495 (GRCm39)	Q459L	possibly damaging	Het
Fcgrt	A	C	7: 44,742,754 (GRCm39)	D342E	probably damaging	Het
Fchsd1	A	C	18: 38,102,425 (GRCm39)	D34E	probably benign	Het
Foxo4	G	A	X: 100,301,955 (GRCm39)	S209N	probably benign	Het
Galt	A	T	4: 41,758,185 (GRCm39)	M317L	possibly damaging	Het
Gfm1	A	G	3: 67,358,657 (GRCm39)	D416G	possibly damaging	Het
Glcci1	A	T	6: 8,573,278 (GRCm39)	I256L	probably benign	Het
Ibtk	C	T	9: 85,613,280 (GRCm39)	G228S	probably benign	Het
Ift70b	T	C	2: 75,768,261 (GRCm39)	Y164C	probably benign	Het
Il2rb	T	A	15: 78,372,399 (GRCm39)	D106V	probably benign	Het
Map3k6	A	T	4: 132,979,783 (GRCm39)	I1261F	probably damaging	Het
Mast2	A	G	4: 116,167,815 (GRCm39)	L1014P	probably benign	Het
Mcm2	G	A	6: 88,868,729 (GRCm39)	Q343*	probably null	Het
Megf8	A	G	7: 25,058,133 (GRCm39)	T2136A	possibly damaging	Het
Mmp28	G	A	11: 83,342,283 (GRCm39)	T103I	probably benign	Het
Mtif2	G	A	11: 29,476,587 (GRCm39)		probably benign	Het
Mtus2	A	T	5: 148,013,311 (GRCm39)	T35S	possibly damaging	Het
Ncoa2	A	T	1: 13,245,192 (GRCm39)	I502N	probably benign	Het
Nek5	A	C	8: 22,573,479 (GRCm39)	D492E	probably benign	Het
Nin	T	C	12: 70,089,899 (GRCm39)	E1172G		Het
Nsmaf	T	A	4: 6,416,662 (GRCm39)	I544F	possibly damaging	Het
Oas3	T	C	5: 120,899,284 (GRCm39)	D763G	unknown	Het
Or2a20	G	A	6: 43,194,258 (GRCm39)	W137*	probably null	Het
Or4s2	T	A	2: 88,473,310 (GRCm39)	F66L	probably benign	Het
Or51r1	A	T	7: 102,227,861 (GRCm39)	D53V	probably damaging	Het
Or5al6	C	T	2: 85,976,251 (GRCm39)	V276M	probably damaging	Het
Or5aq1	T	A	2: 86,965,783 (GRCm39)	N294I	probably damaging	Het
Or5k15	A	T	16: 58,710,265 (GRCm39)	L106Q	probably damaging	Het
Or5t17	T	C	2: 86,832,487 (GRCm39)	V58A	probably benign	Het
Pcdh7	T	C	5: 57,879,622 (GRCm39)		probably null	Het
Pitx3	A	G	19: 46,124,660 (GRCm39)	S236P	possibly damaging	Het
Plscr5	T	A	9: 92,087,502 (GRCm39)	I157N	probably damaging	Het
Potefam1	T	C	2: 111,000,008 (GRCm39)	M201V	unknown	Het
Preb	T	C	5: 31,116,732 (GRCm39)	N54D	probably benign	Het
Pskh1	C	T	8: 106,656,404 (GRCm39)	A360V	possibly damaging	Het
Ptprk	T	C	10: 28,139,608 (GRCm39)	L111S	possibly damaging	Het
Reln	T	A	5: 22,152,525 (GRCm39)	I2314F	probably damaging	Het
Siglecg	A	G	7: 43,067,476 (GRCm39)	D681G	probably damaging	Het
Snx5	A	G	2: 144,096,716 (GRCm39)	V283A	probably benign	Het
Srpk2	C	A	5: 23,880,874 (GRCm39)		probably benign	Het
Tacr1	T	C	6: 82,469,619 (GRCm39)	Y168H	possibly damaging	Het
Tal1	G	T	4: 114,920,557 (GRCm39)	R77L	probably benign	Het
Tdrd12	T	C	7: 35,185,964 (GRCm39)		probably null	Het
Tdrd7	A	T	4: 45,994,310 (GRCm39)	N236I	possibly damaging	Het
Tdrd9	T	C	12: 112,009,130 (GRCm39)	F1012S	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Th	T	G	7: 142,448,851 (GRCm39)	D342A	probably damaging	Het
Tpsg1	G	T	17: 25,591,492 (GRCm39)	V31L	probably damaging	Het
Traf3ip1	C	G	1: 91,439,095 (GRCm39)	S337*	probably null	Het
Trpv6	A	G	6: 41,600,003 (GRCm39)	F551S	probably damaging	Het
Urah	A	G	7: 140,415,531 (GRCm39)	N23D	probably benign	Het
Vangl1	A	C	3: 102,072,669 (GRCm39)		probably null	Het
Zc3h6	A	G	2: 128,859,155 (GRCm39)	E1062G	probably benign	Het
Zfp37	A	T	4: 62,110,644 (GRCm39)	V181E	possibly damaging	Het
Zfp638	T	A	6: 83,921,795 (GRCm39)	S641T	probably benign	Het
Zkscan16	A	T	4: 58,957,473 (GRCm39)	H585L	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
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
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'- TGCCAGGTCCCTTTCTAATGTG -3'
(R):5'- CTGATCTTGAGAGAACTGGGG -3'

Sequencing Primer
(F):5'- AATGTGTCCTCTATGGCCCTGG -3'
(R):5'- CTGTATAGGGTAGCAGGCTAACACTC -3'

Posted On

2022-11-14