Incidental Mutation 'R4428:Tert'
ID 328289
Institutional Source Beutler Lab
Gene Symbol Tert
Ensembl Gene ENSMUSG00000021611
Gene Name telomerase reverse transcriptase
Synonyms TR
MMRRC Submission 041698-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.566) question?
Stock # R4428 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 73775030-73797962 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73775594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 115 (F115Y)
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: F115Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022104
Gene: ENSMUSG00000021611
AA Change: F115Y

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 damaging
Transcript: ENSMUST00000221522
AA Change: F115Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223196
Predicted Effect probably damaging
Transcript: ENSMUST00000223303
AA Change: F115Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.1338 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (46/46)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Abcc1 T A 16: 14,263,164 (GRCm39) V708E probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccdc18 A G 5: 108,283,943 (GRCm39) Y82C probably benign Het
Cd82 T C 2: 93,250,214 (GRCm39) Y266C probably damaging Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Cmpk1 T C 4: 114,820,559 (GRCm39) E180G probably benign Het
Dock8 T C 19: 25,177,863 (GRCm39) I2066T probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fgf3 T C 7: 144,394,444 (GRCm39) V86A probably damaging Het
Frem2 A G 3: 53,561,759 (GRCm39) I916T probably benign Het
Gsk3b T A 16: 38,014,298 (GRCm39) L252Q probably damaging Het
Kif18a A G 2: 109,118,466 (GRCm39) T94A probably damaging Het
Klhdc1 T A 12: 69,315,000 (GRCm39) probably benign Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Mapk7 T C 11: 61,380,055 (GRCm39) D701G possibly damaging Het
Mbd5 A T 2: 49,169,776 (GRCm39) Q47L possibly damaging Het
Nrcam A G 12: 44,623,558 (GRCm39) D1049G possibly damaging Het
Olfml2a G T 2: 38,831,755 (GRCm39) M111I probably damaging Het
Or3a1c T C 11: 74,046,025 (GRCm39) F15S probably damaging Het
Pld2 A T 11: 70,432,160 (GRCm39) H93L probably damaging Het
Pomgnt2 T C 9: 121,811,320 (GRCm39) E487G possibly damaging Het
Psg17 G T 7: 18,550,717 (GRCm39) N379K probably benign Het
Rfk T A 19: 17,375,959 (GRCm39) H84Q possibly damaging Het
Scn8a A G 15: 100,881,784 (GRCm39) Y617C probably damaging Het
Sema3d T C 5: 12,498,087 (GRCm39) F31S probably benign Het
Shq1 T C 6: 100,647,889 (GRCm39) Y45C probably damaging Het
Siglecg C T 7: 43,067,350 (GRCm39) P639L possibly damaging Het
Skp2 A T 15: 9,117,034 (GRCm39) N325K probably benign Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sp8 T A 12: 118,812,938 (GRCm39) S264R possibly damaging Het
Sun1 T C 5: 139,220,230 (GRCm39) probably benign Het
Tardbp A G 4: 148,709,659 (GRCm39) V54A possibly damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem68 A T 4: 3,569,534 (GRCm39) I52K probably benign Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Umps A C 16: 33,781,956 (GRCm39) V322G probably damaging Het
Vmn2r109 T C 17: 20,773,286 (GRCm39) D445G probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r4 C T 3: 64,322,590 (GRCm39) G43E probably damaging 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
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
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'- ACGTGGGATAGTGCGTCTAG -3'
(R):5'- AAGGTTAGTGAAATTCCTGCCC -3'

Sequencing Primer
(F):5'- GCGTCTAGCTCATGTGTCAAGAC -3'
(R):5'- TAGTGAAATTCCTGCCCACGGG -3'
Posted On 2015-07-07