Incidental Mutation 'PIT4377001:Tert'
ID 554947
Institutional Source Beutler Lab
Gene Symbol Tert
Ensembl Gene ENSMUSG00000021611
Gene Name telomerase reverse transcriptase
Synonyms TR
Accession Numbers
Essential gene? Possibly essential (E-score: 0.566) question?
Stock # PIT4377001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 73775030-73797962 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 73776380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 377 (T377I)
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: T377I

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022104
Gene: ENSMUSG00000021611
AA Change: T377I

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: ENSMUST00000223303
Coding Region Coverage
  • 1x: 92.9%
  • 3x: 90.8%
  • 10x: 85.9%
  • 20x: 75.6%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik T C 4: 39,451,129 (GRCm39) C112R possibly damaging Het
Acadl G A 1: 66,877,564 (GRCm39) T329M probably damaging Het
Adgrv1 A G 13: 81,677,104 (GRCm39) L1909P probably damaging Het
Aff3 A C 1: 38,578,044 (GRCm39) V31G probably damaging Het
Bag3 A G 7: 128,147,441 (GRCm39) D352G probably damaging Het
Bcas3 A T 11: 85,386,668 (GRCm39) T368S probably damaging Het
Bmp3 A G 5: 99,027,608 (GRCm39) I434V unknown Het
Casq1 T A 1: 172,039,568 (GRCm39) T336S probably benign Het
Cib2 T G 9: 54,467,271 (GRCm39) E11A probably damaging Het
Cttn C A 7: 143,993,833 (GRCm39) E393D possibly damaging Het
Dchs1 G A 7: 105,406,795 (GRCm39) R2237W probably damaging Het
Dclre1a C T 19: 56,532,837 (GRCm39) A586T probably benign Het
Defb1 C A 8: 22,266,716 (GRCm39) Q17K possibly damaging Het
Dgat2 T C 7: 98,806,342 (GRCm39) Y285C probably damaging Het
Dhx57 A T 17: 80,571,404 (GRCm39) F732Y probably damaging Het
Dock2 T G 11: 34,611,835 (GRCm39) D176A probably benign Het
Epha6 A G 16: 60,025,915 (GRCm39) I509T probably damaging Het
Fblim1 C T 4: 141,322,720 (GRCm39) R21H probably damaging Het
Fbxw20 T A 9: 109,050,795 (GRCm39) H371L probably benign Het
Foxa1 T A 12: 57,589,567 (GRCm39) I218F probably damaging Het
Fstl1 A T 16: 37,636,167 (GRCm39) I53F probably benign Het
Gdnf A G 15: 7,864,011 (GRCm39) R141G probably benign Het
Gemin7 G A 7: 19,299,242 (GRCm39) R118* probably null Het
Gm43218 T C 6: 70,217,565 (GRCm39) T64A probably benign Het
Gnat3 G A 5: 18,220,557 (GRCm39) M243I Het
Gramd1a A T 7: 30,843,095 (GRCm39) I71N possibly damaging Het
H4c12 C G 13: 21,934,654 (GRCm39) G8R unknown Het
Htt A T 5: 35,033,309 (GRCm39) D1859V probably benign Het
Hyal1 T C 9: 107,456,468 (GRCm39) F415S probably damaging Het
Ighv1-47 T C 12: 114,954,858 (GRCm39) N74S probably benign Het
Igkv1-131 T C 6: 67,743,192 (GRCm39) R64G probably benign Het
Itgb1 T A 8: 129,436,864 (GRCm39) V95D probably damaging Het
Jak1 A C 4: 101,036,748 (GRCm39) N297K probably benign Het
Kcna4 T A 2: 107,127,205 (GRCm39) N646K possibly damaging Het
Krt42 A G 11: 100,153,931 (GRCm39) S442P probably damaging Het
Mcm3ap G A 10: 76,338,596 (GRCm39) S1408N possibly damaging Het
Mdga2 T A 12: 66,763,469 (GRCm39) Q278L probably damaging Het
Mkln1 C T 6: 31,451,289 (GRCm39) T410M probably damaging Het
Nav3 T C 10: 109,552,466 (GRCm39) E1792G probably damaging Het
Ndrg1 A G 15: 66,820,288 (GRCm39) C49R probably benign Het
Neurl4 A G 11: 69,801,232 (GRCm39) H1201R probably benign Het
Nfasc T C 1: 132,510,804 (GRCm39) Y1073C unknown Het
Nrbp2 A G 15: 75,958,945 (GRCm39) Y253H probably benign Het
Or10c1 T A 17: 37,521,980 (GRCm39) I255F probably benign Het
Or4g16 T A 2: 111,137,225 (GRCm39) V225D probably damaging Het
Or4k45 T C 2: 111,395,556 (GRCm39) T78A probably damaging Het
Pcsk5 A T 19: 17,416,466 (GRCm39) C1661S probably damaging Het
Qsox2 T G 2: 26,110,924 (GRCm39) D147A probably damaging Het
Siglec15 T A 18: 78,100,590 (GRCm39) probably benign Het
Skint5 T A 4: 113,454,900 (GRCm39) T1011S unknown Het
Slc9a2 A G 1: 40,783,001 (GRCm39) T422A probably damaging Het
Tex15 T A 8: 34,061,129 (GRCm39) S186R probably damaging Het
Tgfb1 A G 7: 25,396,343 (GRCm39) D212G probably benign Het
Tnc T G 4: 63,935,973 (GRCm39) D321A probably damaging Het
Topbp1 G A 9: 103,187,088 (GRCm39) E98K possibly damaging Het
Ugp2 C A 11: 21,320,203 (GRCm39) M1I probably null Het
Vipr2 G A 12: 116,058,418 (GRCm39) D112N probably benign Het
Vps13a T C 19: 16,718,265 (GRCm39) E485G probably damaging Het
Vps37a T A 8: 40,990,087 (GRCm39) I198N possibly damaging Het
Zbtb9 T C 17: 27,193,735 (GRCm39) V380A probably damaging Het
Zfhx4 G C 3: 5,307,802 (GRCm39) V343L 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
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
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'- CGCCAAAATGCCTTTCAGC -3'
(R):5'- ACCATATACCTGCCAGGGAC -3'

Sequencing Primer
(F):5'- GCTCAGGCCATTTATTGAGACCAG -3'
(R):5'- CAAATCCATGAGGTGCGGTG -3'
Posted On 2019-06-07