Incidental Mutation 'R4430:Tert'
ID 328578
Institutional Source Beutler Lab
Gene Symbol Tert
Ensembl Gene ENSMUSG00000021611
Gene Name telomerase reverse transcriptase
Synonyms TR
MMRRC Submission 041700-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.566) question?
Stock # R4430 (G1)
Quality Score 225
Status Not 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: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Aak1 A G 6: 86,963,348 (GRCm39) N926S unknown Het
Ahi1 T A 10: 20,847,977 (GRCm39) C462S probably damaging Het
Ahnak A G 19: 8,980,404 (GRCm39) I563V probably benign Het
Ankrd55 G A 13: 112,459,717 (GRCm39) probably null Het
Bag3 A G 7: 128,125,647 (GRCm39) D22G probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Col15a1 T C 4: 47,245,705 (GRCm39) F152S probably damaging Het
Cxcr2 T C 1: 74,198,004 (GRCm39) I166T probably benign Het
Dnah11 T C 12: 117,946,746 (GRCm39) I3113V probably benign Het
Gli2 T C 1: 118,764,974 (GRCm39) H1059R probably benign Het
Gm14412 C A 2: 177,007,625 (GRCm39) S90I probably benign Het
L1td1 A G 4: 98,625,388 (GRCm39) R528G probably benign Het
Mcm3 A T 1: 20,882,217 (GRCm39) L449* probably null Het
Mif4gd T C 11: 115,499,328 (GRCm39) T185A probably benign Het
Mphosph9 T C 5: 124,403,509 (GRCm39) S840G possibly damaging Het
Nherf4 C T 9: 44,161,041 (GRCm39) S175N probably benign Het
Nim1k C A 13: 120,174,078 (GRCm39) R272L possibly damaging Het
Or5b104 C T 19: 13,072,452 (GRCm39) V187I probably benign Het
Or6c213 T A 10: 129,574,130 (GRCm39) I219F probably damaging Het
Or8k32 A G 2: 86,368,731 (GRCm39) I176T probably damaging Het
Pax3 A G 1: 78,171,961 (GRCm39) V83A probably damaging Het
Pde3b C T 7: 114,133,905 (GRCm39) P974S probably damaging Het
Pglyrp3 T A 3: 91,938,798 (GRCm39) D324E probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Ryr2 A G 13: 11,750,413 (GRCm39) S1953P probably damaging Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sox5 A G 6: 143,987,000 (GRCm39) I188T possibly damaging Het
Spata4 T C 8: 55,054,878 (GRCm39) I86T probably benign Het
Ssc5d T C 7: 4,946,663 (GRCm39) S1006P probably benign Het
Stk10 T C 11: 32,483,552 (GRCm39) V50A possibly damaging Het
Sytl4 A G,T X: 132,849,972 (GRCm39) S338R probably damaging Homo
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem201 A C 4: 149,815,596 (GRCm39) V118G probably benign Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Ugt2b37 T C 5: 87,401,951 (GRCm39) M227V probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r73 A T 7: 85,519,449 (GRCm39) M503K probably benign Het
Zfp54 T G 17: 21,655,222 (GRCm39) V572G 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
R4428: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'- CCTAAGGTTAGTGAAATTCCTGCC -3'

Sequencing Primer
(F):5'- GCGTCTAGCTCATGTGTCAAGAC -3'
(R):5'- GTTAGTGAAATTCCTGCCCACGG -3'
Posted On 2015-07-21