Mutagenetix > Incidental Mutation

Incidental Mutation 'R3162:Tert'

500459

Institutional Source

Beutler Lab

Gene Symbol

Tert

Ensembl Gene

ENSMUSG00000021611

Gene Name

telomerase reverse transcriptase

Synonyms

MMRRC Submission

040613-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.566) question?

Stock #

R3162 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73775030-73797962 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73775528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 93 (E93G)

Ref Sequence

ENSEMBL: ENSMUSP00000022104 (fasta)

Gene Model

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

AlphaFold

O70372

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022104
AA Change: E93G

PolyPhen 2 Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022104
Gene: ENSMUSG00000021611
AA Change: E93G

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
AA Change: E93G

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223196

Predicted Effect

probably benign
Transcript: ENSMUST00000223303
AA Change: E93G

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 64,053,833 (GRCm39)		probably benign	Het
4933412E24Rik	T	A	15: 59,888,134 (GRCm39)	E102V	probably damaging	Het
Adcy9	A	G	16: 4,129,452 (GRCm39)	L715P	probably damaging	Het
Adgre4	T	C	17: 56,109,218 (GRCm39)		probably benign	Het
Amer2	A	G	14: 60,616,000 (GRCm39)	D65G	probably damaging	Het
Atad2b	C	A	12: 4,989,689 (GRCm39)	N133K	possibly damaging	Het
AW551984	C	A	9: 39,504,325 (GRCm39)	R547L	probably damaging	Het
B3galt6	A	G	4: 156,076,464 (GRCm39)	Y204H	probably benign	Het
Btnl2	T	C	17: 34,577,039 (GRCm39)	W65R	probably damaging	Het
Camk1g	T	C	1: 193,042,115 (GRCm39)	T45A	possibly damaging	Het
Caps2	C	A	10: 112,018,391 (GRCm39)	Y180*	probably null	Het
Ccdc181	T	A	1: 164,107,865 (GRCm39)	S183T	probably damaging	Het
Cdc14b	A	G	13: 64,394,422 (GRCm39)		probably benign	Het
Cep350	T	C	1: 155,738,910 (GRCm39)	H2311R	probably benign	Het
Cfap54	T	A	10: 92,881,140 (GRCm39)	K349N	probably damaging	Het
Copa	T	A	1: 171,918,800 (GRCm39)	C127S	probably damaging	Het
Crbn	T	C	6: 106,767,827 (GRCm39)	Q221R	probably benign	Het
Dapk2	T	G	9: 66,161,893 (GRCm39)	V267G	probably damaging	Het
Ddb1	T	C	19: 10,603,335 (GRCm39)	L881P	probably damaging	Het
Decr1	T	A	4: 15,930,972 (GRCm39)	D120V	probably damaging	Het
Dennd1c	C	T	17: 57,373,562 (GRCm39)	G637D	possibly damaging	Het
Dhrs3	A	G	4: 144,646,016 (GRCm39)	D108G	possibly damaging	Het
Disp1	T	C	1: 182,868,806 (GRCm39)	K1205E	probably benign	Het
Dnajc13	G	T	9: 104,097,097 (GRCm39)	N510K	possibly damaging	Het
Dusp6	T	C	10: 99,099,944 (GRCm39)	Y131H	probably damaging	Het
Eif2b2	A	T	12: 85,266,435 (GRCm39)	M34L	probably benign	Het
Epsti1	A	T	14: 78,211,953 (GRCm39)		probably benign	Het
Errfi1	G	A	4: 150,951,816 (GRCm39)	E415K	probably damaging	Het
Ext1	T	C	15: 53,208,000 (GRCm39)	N254D	possibly damaging	Het
Gm7337	A	C	5: 87,999,416 (GRCm39)		noncoding transcript	Het
Hnrnpu	T	C	1: 178,158,690 (GRCm39)		probably benign	Het
Hyal3	T	A	9: 107,464,005 (GRCm39)	C407S	probably damaging	Het
Insr	T	G	8: 3,211,416 (GRCm39)	N1141T	possibly damaging	Het
Ipo9	T	C	1: 135,337,214 (GRCm39)	T174A	probably benign	Het
Iqgap1	G	A	7: 80,402,086 (GRCm39)	A393V	probably benign	Het
Irak2	G	T	6: 113,649,721 (GRCm39)	A119S	probably benign	Het
Itgb2l	A	G	16: 96,238,589 (GRCm39)	L70P	probably damaging	Het
Itsn1	C	A	16: 91,649,932 (GRCm39)	S202*	probably null	Het
Ivd	T	C	2: 118,692,650 (GRCm39)		probably null	Het
Leprot	C	T	4: 101,515,090 (GRCm39)	T89I	probably damaging	Het
Lratd2	A	T	15: 60,695,296 (GRCm39)	V150E	probably damaging	Het
Mill2	A	C	7: 18,590,099 (GRCm39)	E127A	probably benign	Het
Msh6	T	C	17: 88,292,909 (GRCm39)	Y555H	probably damaging	Het
Myo18b	A	C	5: 112,840,594 (GRCm39)	S2400A	probably damaging	Het
Naa25	A	G	5: 121,573,135 (GRCm39)		probably null	Het
Nop2	A	G	6: 125,111,555 (GRCm39)	N96S	probably benign	Het
Nup155	G	T	15: 8,177,867 (GRCm39)	R1083S	possibly damaging	Het
Nusap1	A	T	2: 119,460,885 (GRCm39)	Q126L	possibly damaging	Het
Or11g24	T	A	14: 50,662,488 (GRCm39)	C171S	probably damaging	Het
Or13c7b	T	A	4: 43,820,544 (GRCm39)	K272N	probably benign	Het
Or2z2	T	C	11: 58,346,053 (GRCm39)	T241A	probably damaging	Het
Or4c52	T	G	2: 89,845,365 (GRCm39)	Y30*	probably null	Het
Or5al1	T	C	2: 85,990,439 (GRCm39)	I92V	probably benign	Het
Or6x1	G	T	9: 40,098,901 (GRCm39)	Q163H	probably benign	Het
Or7a35	C	A	10: 78,853,438 (GRCm39)	T94N	probably benign	Het
Pde5a	T	A	3: 122,575,277 (GRCm39)	L356*	probably null	Het
Pdik1l	A	G	4: 134,011,561 (GRCm39)	L94S	probably damaging	Het
Pkdrej	T	A	15: 85,700,818 (GRCm39)	D1706V	probably damaging	Het
Pkhd1l1	A	G	15: 44,368,924 (GRCm39)	I856M	probably damaging	Het
Prkcz	A	T	4: 155,374,981 (GRCm39)	D114E	probably benign	Het
Prss59	A	G	6: 40,903,003 (GRCm39)	M123T	probably benign	Het
Psap	T	C	10: 60,113,575 (GRCm39)	L4P	possibly damaging	Het
Ptprk	T	C	10: 28,468,822 (GRCm39)	V1402A	probably benign	Het
Rai14	T	C	15: 10,633,250 (GRCm39)	T47A	possibly damaging	Het
Ralgapa1	A	T	12: 55,756,371 (GRCm39)	N1075K	probably damaging	Het
Rlf	A	G	4: 121,006,044 (GRCm39)	S979P	probably damaging	Het
Rps2	G	T	17: 24,939,952 (GRCm39)	A129S	probably benign	Het
Serinc2	A	G	4: 130,154,528 (GRCm39)	S175P	probably benign	Het
Skic2	C	T	17: 35,066,789 (GRCm39)	W88*	probably null	Het
Socs5	A	T	17: 87,442,146 (GRCm39)	Q362L	probably damaging	Het
Srbd1	A	T	17: 86,437,643 (GRCm39)	D233E	probably benign	Het
Srgap3	A	G	6: 112,706,619 (GRCm39)	V826A	probably benign	Het
Tacr2	A	G	10: 62,101,024 (GRCm39)	D378G	probably benign	Het
Taok2	A	G	7: 126,474,347 (GRCm39)	I294T	possibly damaging	Het
Tns2	A	G	15: 102,021,771 (GRCm39)	E1118G	possibly damaging	Het
Topaz1	T	C	9: 122,578,446 (GRCm39)	I452T	probably benign	Het
Trak1	C	T	9: 121,280,800 (GRCm39)		probably benign	Het
Ttc22	A	T	4: 106,480,276 (GRCm39)	I177F	probably damaging	Het
Tuba8	A	G	6: 121,199,697 (GRCm39)	D127G	possibly damaging	Het
Tulp4	A	G	17: 6,248,983 (GRCm39)	M1V	probably null	Het
Urb1	A	G	16: 90,594,791 (GRCm39)	L247P	probably damaging	Het
Usp32	A	G	11: 84,916,362 (GRCm39)	W861R	probably damaging	Het
Vmn1r48	G	A	6: 90,013,360 (GRCm39)	T155I	probably benign	Het
Vmn2r117	A	G	17: 23,679,352 (GRCm39)	L624P	probably damaging	Het
Vmn2r86	T	C	10: 130,291,673 (GRCm39)	R31G	probably damaging	Het
Vstm5	T	G	9: 15,168,594 (GRCm39)	S53A	probably benign	Het
Wnt5a	T	C	14: 28,244,445 (GRCm39)	Y231H	probably benign	Het
Yeats2	T	C	16: 20,012,395 (GRCm39)	V531A	probably damaging	Het
Zw10	T	C	9: 48,988,860 (GRCm39)	Y709H	probably 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
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

Posted On

2017-12-01