Incidental Mutation 'R1521:Tert'
ID 167039
Institutional Source Beutler Lab
Gene Symbol Tert
Ensembl Gene ENSMUSG00000021611
Gene Name telomerase reverse transcriptase
Synonyms TR
MMRRC Submission 040870-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.443) question?
Stock # R1521 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 73626911-73649843 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73642056 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 843 (E843G)
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: E843G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022104
Gene: ENSMUSG00000021611
AA Change: E843G

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.6%
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: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 A G 8: 111,987,235 (GRCm38) L104P possibly damaging Het
Adgrf5 T C 17: 43,430,552 (GRCm38) V360A probably benign Het
Ahnak G A 19: 9,004,728 (GRCm38) M1125I probably benign Het
Akap12 T C 10: 4,354,804 (GRCm38) V538A probably benign Het
Arhgef10l T C 4: 140,515,438 (GRCm38) D1088G possibly damaging Het
Atp7b A T 8: 22,027,673 (GRCm38) L268Q probably damaging Het
Atxn2 A C 5: 121,779,591 (GRCm38) N516T probably damaging Het
Cacna1h T C 17: 25,397,354 (GRCm38) M184V possibly damaging Het
Cacnb2 G T 2: 14,614,352 (GRCm38) R66L probably benign Het
Casp8ap2 A G 4: 32,631,867 (GRCm38) E96G probably damaging Het
Ccdc78 G T 17: 25,788,781 (GRCm38) R264L probably damaging Het
Cdh4 G A 2: 179,797,558 (GRCm38) R166H probably damaging Het
Cog7 C T 7: 121,930,574 (GRCm38) D615N possibly damaging Het
Crtc2 T C 3: 90,257,383 (GRCm38) V115A probably benign Het
Crybg1 A G 10: 43,998,416 (GRCm38) S899P probably damaging Het
Ctdnep1 T A 11: 69,988,635 (GRCm38) V128E probably damaging Het
Ctnna3 A G 10: 64,959,842 (GRCm38) K780E probably benign Het
Cul7 T A 17: 46,663,190 (GRCm38) L1467H probably damaging Het
Dazap2 T A 15: 100,618,065 (GRCm38) Y91* probably null Het
Dcdc5 T C 2: 106,351,669 (GRCm38) noncoding transcript Het
Dppa1 T A 11: 46,610,473 (GRCm38) R74S possibly damaging Het
Elovl1 A T 4: 118,432,000 (GRCm38) T241S probably benign Het
Eya1 G T 1: 14,274,550 (GRCm38) Q86K probably damaging Het
Fam71a T A 1: 191,164,022 (GRCm38) R141S probably benign Het
Fancm A T 12: 65,121,704 (GRCm38) M1614L probably benign Het
Fcgbp C T 7: 28,075,160 (GRCm38) T53I probably benign Het
Fpr3 T A 17: 17,971,015 (GRCm38) W183R probably damaging Het
Galnt13 G A 2: 54,854,645 (GRCm38) V119I probably benign Het
Gcfc2 T C 6: 81,923,812 (GRCm38) S36P probably benign Het
Gdap2 T A 3: 100,194,615 (GRCm38) D412E possibly damaging Het
Gm10184 T A 17: 89,910,306 (GRCm38) N4I possibly damaging Het
Gm12258 T C 11: 58,859,555 (GRCm38) C41R probably damaging Het
Grrp1 T C 4: 134,251,350 (GRCm38) *272W probably null Het
Hipk1 T G 3: 103,777,782 (GRCm38) E172D probably benign Het
Hmgcs1 T G 13: 119,703,591 (GRCm38) L326R probably benign Het
Hs6st1 C A 1: 36,068,886 (GRCm38) R77S probably damaging Het
Ifit3 A T 19: 34,587,173 (GRCm38) N40Y probably damaging Het
Il1a T A 2: 129,304,741 (GRCm38) Q144L possibly damaging Het
Itga7 A G 10: 128,957,811 (GRCm38) E1128G possibly damaging Het
Itih2 T C 2: 10,106,747 (GRCm38) D460G probably damaging Het
Ivns1abp G A 1: 151,351,558 (GRCm38) C39Y probably damaging Het
Kif22 G T 7: 127,027,839 (GRCm38) A646E probably damaging Het
Klhl29 T C 12: 5,091,307 (GRCm38) Y559C probably damaging Het
Klhl7 T A 5: 24,149,110 (GRCm38) probably null Het
Klhl9 A G 4: 88,721,993 (GRCm38) S4P probably benign Het
Klk10 A G 7: 43,782,880 (GRCm38) Q79R probably benign Het
Klk6 T C 7: 43,829,275 (GRCm38) probably null Het
Lamc2 C T 1: 153,166,263 (GRCm38) E42K probably benign Het
Lingo3 T C 10: 80,835,721 (GRCm38) D125G probably benign Het
Map1b T C 13: 99,432,739 (GRCm38) N1158S unknown Het
Masp1 T A 16: 23,494,637 (GRCm38) N183Y probably damaging Het
Mdga2 A G 12: 66,568,926 (GRCm38) Y636H probably benign Het
Micalcl T A 7: 112,381,610 (GRCm38) S264T probably damaging Het
Mif A G 10: 75,859,541 (GRCm38) V95A possibly damaging Het
Mmp17 G A 5: 129,595,088 (GRCm38) probably null Het
Mmp23 T C 4: 155,650,717 (GRCm38) R390G possibly damaging Het
Ncoa6 A C 2: 155,415,222 (GRCm38) S800R possibly damaging Het
Nfix G A 8: 84,726,526 (GRCm38) R300C probably damaging Het
Nr2e3 A T 9: 59,949,205 (GRCm38) S67R probably damaging Het
Odf2l T C 3: 145,149,036 (GRCm38) S545P possibly damaging Het
Olfr1256 G A 2: 89,835,172 (GRCm38) R258* probably null Het
Olfr172 C T 16: 58,760,853 (GRCm38) E108K probably damaging Het
Olfr591 T A 7: 103,173,451 (GRCm38) Y62F probably benign Het
Olfr845 C T 9: 19,338,652 (GRCm38) S64F probably benign Het
Olfr872 A C 9: 20,260,432 (GRCm38) Q197H possibly damaging Het
Olfr916 T G 9: 38,657,718 (GRCm38) I225L probably damaging Het
Olfr958 A T 9: 39,550,784 (GRCm38) V29E possibly damaging Het
Otog A T 7: 46,259,264 (GRCm38) H562L possibly damaging Het
Pcdh15 T C 10: 74,594,191 (GRCm38) V1250A probably damaging Het
Pde1c A G 6: 56,173,607 (GRCm38) V309A possibly damaging Het
Pfkfb4 A C 9: 109,007,305 (GRCm38) T134P probably damaging Het
Phc3 G T 3: 30,936,575 (GRCm38) Q498K possibly damaging Het
Phlpp1 T C 1: 106,392,319 (GRCm38) V1348A probably damaging Het
Pik3ap1 T C 19: 41,321,558 (GRCm38) D441G probably damaging Het
Pkd1l2 T C 8: 117,065,500 (GRCm38) probably null Het
Pla2g4a T C 1: 149,857,686 (GRCm38) probably null Het
Pola2 A T 19: 5,948,406 (GRCm38) I376N probably damaging Het
Pold2 T A 11: 5,876,833 (GRCm38) N34Y probably damaging Het
Ppp2r5c T C 12: 110,554,886 (GRCm38) L281P probably damaging Het
Prss46 A G 9: 110,849,635 (GRCm38) I29V probably benign Het
Ranbp6 A T 19: 29,811,446 (GRCm38) V502E probably benign Het
Rdh14 T C 12: 10,394,613 (GRCm38) F155L probably damaging Het
Rnaseh2a A T 8: 84,965,858 (GRCm38) probably null Het
Rpp30 A G 19: 36,094,385 (GRCm38) T118A possibly damaging Het
Rragd T C 4: 32,996,005 (GRCm38) F117L probably damaging Het
S100a2 T A 3: 90,591,292 (GRCm38) probably null Het
Sept12 T C 16: 4,996,476 (GRCm38) K43R probably damaging Het
Sh3tc2 A G 18: 62,008,488 (GRCm38) E1080G probably damaging Het
Slc26a9 A G 1: 131,750,677 (GRCm38) K27R probably damaging Het
Spata17 T A 1: 187,193,994 (GRCm38) K46N probably damaging Het
St14 A C 9: 31,108,215 (GRCm38) D103E probably benign Het
St6galnac2 T A 11: 116,684,347 (GRCm38) Q222L possibly damaging Het
Tdrd9 T C 12: 112,036,410 (GRCm38) V831A probably damaging Het
Tex21 A G 12: 76,204,270 (GRCm38) V464A probably benign Het
Tmem232 T A 17: 65,484,501 (GRCm38) H124L probably damaging Het
Tmem5 A G 10: 122,090,479 (GRCm38) W243R probably damaging Het
Tnfrsf19 T G 14: 61,005,106 (GRCm38) S110R probably damaging Het
Tnnt3 A T 7: 142,515,825 (GRCm38) K272* probably null Het
Tnxb T C 17: 34,711,503 (GRCm38) L2054P probably damaging Het
Trcg1 A C 9: 57,242,465 (GRCm38) D440A probably benign Het
Trpm3 A G 19: 22,901,221 (GRCm38) E504G probably damaging Het
Trpm5 C T 7: 143,082,889 (GRCm38) R437H probably benign Het
Ttn T C 2: 76,741,167 (GRCm38) R18134G probably damaging Het
Uchl5 A C 1: 143,798,422 (GRCm38) M64L possibly damaging Het
Urb1 G A 16: 90,753,863 (GRCm38) R2034W probably damaging Het
Usp44 T A 10: 93,847,186 (GRCm38) C452* probably null Het
Uvssa G A 5: 33,413,934 (GRCm38) A641T probably damaging Het
Vmn1r204 T A 13: 22,557,078 (GRCm38) I293N probably benign Het
Vmn2r84 A T 10: 130,389,268 (GRCm38) C458S probably benign Het
Vmn2r85 T G 10: 130,425,919 (GRCm38) H183P probably damaging Het
Vps13d G T 4: 145,105,861 (GRCm38) T2825K probably benign Het
Zc3hc1 T A 6: 30,376,025 (GRCm38) I179F probably benign Het
Zfp112 A G 7: 24,125,785 (GRCm38) N393D probably damaging Het
Zfp558 A G 9: 18,456,563 (GRCm38) S310P possibly damaging Het
Zfp560 A C 9: 20,348,775 (GRCm38) probably null Het
Zfp668 C T 7: 127,867,080 (GRCm38) E311K probably benign Het
Zfp763 T A 17: 33,033,302 (GRCm38) M1L probably benign Het
Zfp947 A T 17: 22,145,832 (GRCm38) M287K probably benign Het
Other mutations in Tert
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:Tert APN 13 73,628,297 (GRCm38) missense possibly damaging 0.76
IGL01585:Tert APN 13 73,634,344 (GRCm38) missense probably benign 0.15
IGL03167:Tert APN 13 73,640,000 (GRCm38) missense probably damaging 1.00
galileo UTSW 13 73,627,606 (GRCm38) missense probably damaging 1.00
FR4304:Tert UTSW 13 73,648,302 (GRCm38) utr 3 prime probably benign
FR4342:Tert UTSW 13 73,648,300 (GRCm38) utr 3 prime probably benign
FR4589:Tert UTSW 13 73,648,304 (GRCm38) utr 3 prime probably benign
PIT4377001:Tert UTSW 13 73,628,261 (GRCm38) missense possibly damaging 0.54
R0372:Tert UTSW 13 73,648,991 (GRCm38) missense probably damaging 1.00
R0433:Tert UTSW 13 73,627,081 (GRCm38) missense probably damaging 1.00
R0829:Tert UTSW 13 73,644,385 (GRCm38) missense probably damaging 1.00
R1023:Tert UTSW 13 73,642,059 (GRCm38) missense probably benign 0.41
R1236:Tert UTSW 13 73,636,379 (GRCm38) missense probably damaging 0.99
R1331:Tert UTSW 13 73,648,354 (GRCm38) missense probably damaging 1.00
R1426:Tert UTSW 13 73,642,353 (GRCm38) splice site probably benign
R1467:Tert UTSW 13 73,628,209 (GRCm38) missense probably benign 0.10
R1467:Tert UTSW 13 73,628,209 (GRCm38) missense probably benign 0.10
R2484:Tert UTSW 13 73,647,985 (GRCm38) missense probably benign
R3162:Tert UTSW 13 73,627,409 (GRCm38) missense possibly damaging 0.45
R3162:Tert UTSW 13 73,627,409 (GRCm38) missense possibly damaging 0.45
R4428:Tert UTSW 13 73,627,475 (GRCm38) missense probably damaging 1.00
R4430:Tert UTSW 13 73,627,475 (GRCm38) missense probably damaging 1.00
R4431:Tert UTSW 13 73,627,475 (GRCm38) missense probably damaging 1.00
R4630:Tert UTSW 13 73,648,991 (GRCm38) missense probably damaging 1.00
R4696:Tert UTSW 13 73,627,820 (GRCm38) missense probably benign 0.25
R4751:Tert UTSW 13 73,628,063 (GRCm38) missense possibly damaging 0.89
R4926:Tert UTSW 13 73,648,389 (GRCm38) missense possibly damaging 0.62
R5011:Tert UTSW 13 73,646,309 (GRCm38) critical splice donor site probably null
R5013:Tert UTSW 13 73,646,309 (GRCm38) critical splice donor site probably null
R5061:Tert UTSW 13 73,634,278 (GRCm38) missense probably damaging 1.00
R5268:Tert UTSW 13 73,627,354 (GRCm38) missense probably damaging 1.00
R5323:Tert UTSW 13 73,648,371 (GRCm38) missense probably benign 0.07
R5396:Tert UTSW 13 73,639,243 (GRCm38) missense probably damaging 0.97
R5445:Tert UTSW 13 73,644,284 (GRCm38) missense probably benign 0.00
R5680:Tert UTSW 13 73,642,351 (GRCm38) splice site probably null
R5688:Tert UTSW 13 73,639,156 (GRCm38) missense probably damaging 1.00
R6092:Tert UTSW 13 73,628,581 (GRCm38) missense probably benign 0.34
R6973:Tert UTSW 13 73,627,988 (GRCm38) missense probably benign 0.02
R7069:Tert UTSW 13 73,628,410 (GRCm38) missense probably damaging 0.99
R7317:Tert UTSW 13 73,642,376 (GRCm38) missense probably damaging 1.00
R7747:Tert UTSW 13 73,627,606 (GRCm38) missense probably damaging 1.00
R7787:Tert UTSW 13 73,648,932 (GRCm38) missense probably damaging 0.99
R7846:Tert UTSW 13 73,628,195 (GRCm38) missense probably damaging 1.00
R7994:Tert UTSW 13 73,648,955 (GRCm38) missense probably benign 0.20
R8042:Tert UTSW 13 73,627,145 (GRCm38) missense probably damaging 1.00
R8044:Tert UTSW 13 73,635,449 (GRCm38) missense probably damaging 1.00
R8867:Tert UTSW 13 73,628,447 (GRCm38) missense probably benign
R9181:Tert UTSW 13 73,637,175 (GRCm38) intron probably benign
R9412:Tert UTSW 13 73,648,927 (GRCm38) missense probably benign 0.03
R9745:Tert UTSW 13 73,636,490 (GRCm38) missense probably damaging 0.96
R9790:Tert UTSW 13 73,627,529 (GRCm38) missense probably benign 0.21
R9791:Tert UTSW 13 73,627,529 (GRCm38) missense probably benign 0.21
R9792:Tert UTSW 13 73,644,323 (GRCm38) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GCTGTCACCAAGAATGTCCCTTCAC -3'
(R):5'- AAGAATGGCTCTGGGATGCTTCAC -3'

Sequencing Primer
(F):5'- AGCTGCTATGAATTGTCCCAG -3'
(R):5'- GGGATGCTTCACAGCTTTTC -3'
Posted On 2014-04-13