Incidental Mutation 'R1467:Tert'
ID 164612
Institutional Source Beutler Lab
Gene Symbol Tert
Ensembl Gene ENSMUSG00000021611
Gene Name telomerase reverse transcriptase
Synonyms TR
MMRRC Submission 039520-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.566) question?
Stock # R1467 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 73775030-73797962 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73776328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 360 (T360A)
Ref Sequence ENSEMBL: ENSMUSP00000022104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022104] [ENSMUST00000221522] [ENSMUST00000223303]
AlphaFold O70372
Predicted Effect probably benign
Transcript: ENSMUST00000022104
AA Change: T360A

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000022104
Gene: ENSMUSG00000021611
AA Change: T360A

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 noncoding transcript
Transcript: ENSMUST00000223196
Predicted Effect probably benign
Transcript: ENSMUST00000223303
Meta Mutation Damage Score 0.0870 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.1%
  • 10x: 88.5%
  • 20x: 62.9%
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik C A 9: 124,058,093 (GRCm39) V9L possibly damaging Het
A630010A05Rik C A 16: 14,436,447 (GRCm39) L167I possibly damaging Het
Abca14 A T 7: 119,815,405 (GRCm39) M218L possibly damaging Het
Abca15 C A 7: 119,939,761 (GRCm39) probably null Het
Acod1 T C 14: 103,292,003 (GRCm39) F176L probably benign Het
Actr5 A G 2: 158,480,617 (GRCm39) H545R probably benign Het
Adcy1 A G 11: 7,088,396 (GRCm39) T472A probably damaging Het
Aldh1l1 A G 6: 90,548,910 (GRCm39) K469R possibly damaging Het
Ambra1 A T 2: 91,716,048 (GRCm39) Q853L probably damaging Het
Apol7e G T 15: 77,601,966 (GRCm39) G188V probably damaging Het
AU018091 A T 7: 3,214,089 (GRCm39) W43R probably benign Het
Baat A G 4: 49,503,101 (GRCm39) V7A probably benign Het
Bcas1 C A 2: 170,229,852 (GRCm39) Q249H possibly damaging Het
Bltp1 T A 3: 37,090,094 (GRCm39) V676D probably damaging Het
Bptf G T 11: 106,945,881 (GRCm39) Q2453K possibly damaging Het
Btg3 A G 16: 78,161,688 (GRCm39) probably null Het
Cacna2d3 T C 14: 29,055,736 (GRCm39) N298S possibly damaging Het
Carf G A 1: 60,167,152 (GRCm39) V127I possibly damaging Het
Catsperg1 T C 7: 28,884,433 (GRCm39) S916G probably damaging Het
Cers1 T C 8: 70,775,819 (GRCm39) S274P possibly damaging Het
Ces4a T A 8: 105,864,667 (GRCm39) V48E possibly damaging Het
Cfap54 T A 10: 92,805,625 (GRCm39) H1495L probably benign Het
Cntnap5a T A 1: 115,612,898 (GRCm39) L11* probably null Het
Cr2 C T 1: 194,839,817 (GRCm39) G913R probably damaging Het
Cul9 A G 17: 46,836,299 (GRCm39) L1155P probably damaging Het
Dlec1 A T 9: 118,971,646 (GRCm39) D1278V probably damaging Het
Dmrt2 A G 19: 25,650,970 (GRCm39) E52G possibly damaging Het
Dsp A G 13: 38,376,688 (GRCm39) K1491R probably benign Het
Ecpas A G 4: 58,832,753 (GRCm39) V869A probably benign Het
Eef1d A T 15: 75,767,770 (GRCm39) D206E probably damaging Het
Erbb2 C T 11: 98,327,001 (GRCm39) Q1137* probably null Het
Ercc2 T A 7: 19,119,811 (GRCm39) D157E probably benign Het
Eri1 A G 8: 35,936,284 (GRCm39) *346Q probably null Het
Espl1 A G 15: 102,228,293 (GRCm39) E1689G probably benign Het
Fap C T 2: 62,347,964 (GRCm39) V539I probably benign Het
Fasn A G 11: 120,701,866 (GRCm39) F1871S probably benign Het
Gabpb1 T G 2: 126,494,247 (GRCm39) Y126S probably damaging Het
Grm1 T C 10: 10,595,702 (GRCm39) Y642C probably damaging Het
Heatr4 T C 12: 84,024,841 (GRCm39) T327A possibly damaging Het
Hmbox1 T C 14: 65,099,027 (GRCm39) D212G possibly damaging Het
Hmcn1 T A 1: 150,565,341 (GRCm39) D2262V probably damaging Het
Hoxb9 A G 11: 96,162,764 (GRCm39) T133A probably benign Het
Insr A T 8: 3,219,720 (GRCm39) V934E probably damaging Het
Ipo9 T C 1: 135,334,281 (GRCm39) E315G possibly damaging Het
Itga10 C T 3: 96,559,545 (GRCm39) Q481* probably null Het
Kntc1 T A 5: 123,925,047 (GRCm39) M1120K probably benign Het
Krt78 A G 15: 101,854,728 (GRCm39) Y1028H possibly damaging Het
Lrrc38 A T 4: 143,096,450 (GRCm39) I254F probably damaging Het
Lyrm7 A G 11: 54,741,215 (GRCm39) F40L probably damaging Het
Mfsd4b1 C T 10: 39,878,631 (GRCm39) S422N possibly damaging Het
Mlh3 A T 12: 85,284,374 (GRCm39) L1380* probably null Het
Mrpl24 C A 3: 87,829,744 (GRCm39) A110D probably benign Het
Mrps14 T C 1: 160,024,520 (GRCm39) V17A probably benign Het
Mtcl1 T C 17: 66,755,322 (GRCm39) D340G probably damaging Het
Neb T C 2: 52,120,059 (GRCm39) Y3900C probably damaging Het
Neurod4 T C 10: 130,106,473 (GRCm39) D267G probably benign Het
Nf1 A T 11: 79,319,452 (GRCm39) I536F possibly damaging Het
Nkg7 C T 7: 43,086,857 (GRCm39) P44S probably damaging Het
Or14c40 T C 7: 86,313,185 (GRCm39) V105A possibly damaging Het
Or4a67 T C 2: 88,597,832 (GRCm39) I276V probably benign Het
Pcif1 T C 2: 164,731,058 (GRCm39) Y404H probably benign Het
Pcnx2 A T 8: 126,480,289 (GRCm39) L2006Q possibly damaging Het
Pcnx3 A T 19: 5,724,922 (GRCm39) S821T possibly damaging Het
Pde8b T A 13: 95,170,680 (GRCm39) D662V probably damaging Het
Pkd1l3 C T 8: 110,343,000 (GRCm39) P113S unknown Het
Pkd2l1 G T 19: 44,142,648 (GRCm39) Q465K possibly damaging Het
Plch2 G T 4: 155,068,189 (GRCm39) P1479Q probably benign Het
Plekhm3 A T 1: 64,932,041 (GRCm39) I521N probably damaging Het
Pola2 A T 19: 5,992,093 (GRCm39) Y526* probably null Het
Prss23 T C 7: 89,159,217 (GRCm39) D284G probably damaging Het
Psme2b A G 11: 48,836,467 (GRCm39) F160S probably damaging Het
Rap1gap2 A G 11: 74,327,853 (GRCm39) V139A possibly damaging Het
Rbbp9 G T 2: 144,385,777 (GRCm39) R163S possibly damaging Het
Rdh12 T C 12: 79,260,522 (GRCm39) L206P probably damaging Het
Rhou T C 8: 124,388,029 (GRCm39) W254R possibly damaging Het
Scfd1 A G 12: 51,478,281 (GRCm39) K498E possibly damaging Het
Scn7a A G 2: 66,519,902 (GRCm39) Y1001H probably benign Het
Setx T A 2: 29,048,917 (GRCm39) V1981E probably damaging Het
Sfxn1 T C 13: 54,247,890 (GRCm39) I205T possibly damaging Het
Shld2 G T 14: 33,990,619 (GRCm39) H96N possibly damaging Het
Speer1g C T 5: 11,180,337 (GRCm39) H82Y probably damaging Het
Spock1 G A 13: 57,577,182 (GRCm39) R416C possibly damaging Het
Spred2 A G 11: 19,968,109 (GRCm39) I222V probably benign Het
Stkld1 A T 2: 26,839,407 (GRCm39) T358S probably benign Het
Strip1 T C 3: 107,534,724 (GRCm39) E102G possibly damaging Het
Tars3 T C 7: 65,305,444 (GRCm39) S223P probably damaging Het
Tdpoz1 T A 3: 93,578,637 (GRCm39) E49V probably benign Het
Tspear A G 10: 77,717,026 (GRCm39) Y567C probably damaging Het
Ttc28 A G 5: 111,433,254 (GRCm39) Q2096R probably benign Het
Ugt2b38 T G 5: 87,560,232 (GRCm39) N361H probably damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Vmn2r111 T A 17: 22,790,028 (GRCm39) H326L probably damaging Het
Vmn2r18 A G 5: 151,510,301 (GRCm39) F24S possibly damaging Het
Vmn2r82 A T 10: 79,232,133 (GRCm39) I711F probably benign Het
Vwa8 C T 14: 79,341,134 (GRCm39) Q1537* probably null Het
Wdr64 G A 1: 175,603,288 (GRCm39) V630I probably benign Het
Wnt6 G T 1: 74,821,434 (GRCm39) W84L probably damaging Het
Zfp11 C A 5: 129,735,254 (GRCm39) R69L probably benign Het
Other mutations in Tert
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TCAGGCAAATCATGGGTGCCAAG -3'
(R):5'- AAACCTGCAATGTGACCTGAGGAG -3'

Sequencing Primer
(F):5'- AATCATGGGTGCCAAGTCCTG -3'
(R):5'- ACCTGAGGAGTCTGACATATTG -3'
Posted On 2014-03-28