Incidental Mutation 'R9181:Tert'
ID 726296
Institutional Source Beutler Lab
Gene Symbol Tert
Ensembl Gene ENSMUSG00000021611
Gene Name telomerase reverse transcriptase
Synonyms TR
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.566) question?
Stock # R9181 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 73775030-73797962 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 73785294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022104] [ENSMUST00000221522] [ENSMUST00000223303]
AlphaFold O70372
Predicted Effect probably benign
Transcript: ENSMUST00000022104
SMART Domains Protein: ENSMUSP00000022104
Gene: ENSMUSG00000021611

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
Predicted Effect probably benign
Transcript: ENSMUST00000223303
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (53/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 G T 5: 105,121,962 (GRCm39) D138E probably benign Het
Acvr2a T A 2: 48,760,307 (GRCm39) I21K probably damaging Het
Adam30 C G 3: 98,070,194 (GRCm39) P676A probably benign Het
Ankrd28 A C 14: 31,470,627 (GRCm39) H145Q probably damaging Het
Ap3m2 A G 8: 23,289,774 (GRCm39) Y110H probably damaging Het
Apoc4 A G 7: 19,412,665 (GRCm39) S27P possibly damaging Het
Bbs1 A C 19: 4,941,070 (GRCm39) L548R possibly damaging Het
Cfap99 A T 5: 34,471,602 (GRCm39) D346V probably damaging Het
Ckmt1 T A 2: 121,189,870 (GRCm39) probably benign Het
Col13a1 T C 10: 61,703,612 (GRCm39) K436E possibly damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Dbf4 A G 5: 8,462,206 (GRCm39) V105A possibly damaging Het
Disp2 T A 2: 118,617,393 (GRCm39) V129E probably benign Het
Dnah7b T C 1: 46,181,194 (GRCm39) V1027A probably damaging Het
Dst T A 1: 34,231,818 (GRCm39) I3137N probably benign Het
F5 A G 1: 164,019,895 (GRCm39) D790G probably benign Het
Fan1 A G 7: 64,016,400 (GRCm39) S575P probably damaging Het
Gemin5 C T 11: 58,021,035 (GRCm39) A1051T probably benign Het
Gsta4 A G 9: 78,105,597 (GRCm39) Y9C probably damaging Het
H2-M3 C A 17: 37,583,172 (GRCm39) A211E probably damaging Het
Ifna1 A T 4: 88,768,453 (GRCm39) M44L probably benign Het
Ildr2 A T 1: 166,122,283 (GRCm39) D242V probably damaging Het
Kif27 G T 13: 58,492,543 (GRCm39) Q199K probably damaging Het
Lmf1 T A 17: 25,804,718 (GRCm39) L132H probably damaging Het
Mbtd1 A G 11: 93,803,241 (GRCm39) N173S probably benign Het
Mettl25b A G 3: 87,835,392 (GRCm39) probably benign Het
Mgat4c A T 10: 102,225,123 (GRCm39) N446Y probably benign Het
Minar1 A G 9: 89,485,394 (GRCm39) M1T probably null Het
Mocs1 T A 17: 49,756,801 (GRCm39) M261K probably damaging Het
Nlrp10 A T 7: 108,524,108 (GRCm39) F457L probably damaging Het
Nlrp4e C T 7: 23,061,270 (GRCm39) R954* probably null Het
Or4s2 T C 2: 88,473,348 (GRCm39) M79T probably benign Het
Pigu T C 2: 155,141,109 (GRCm39) I261M probably damaging Het
Pkd1l3 T A 8: 110,375,318 (GRCm39) I1576N probably damaging Het
Plekhg6 A C 6: 125,355,854 (GRCm39) probably benign Het
Pmpca T C 2: 26,283,365 (GRCm39) L388P probably damaging Het
Polg A T 7: 79,104,421 (GRCm39) I818N probably damaging Het
Pramel46 A T 5: 95,418,414 (GRCm39) V194D probably benign Het
Radil A G 5: 142,480,722 (GRCm39) Y578H probably damaging Het
Retnlb A G 16: 48,639,084 (GRCm39) D95G probably damaging Het
Rufy2 A T 10: 62,836,166 (GRCm39) Y365F possibly damaging Het
Ssc5d A G 7: 4,945,814 (GRCm39) T949A possibly damaging Het
Svil C A 18: 5,090,833 (GRCm39) R1312S possibly damaging Het
Syne1 T C 10: 5,063,994 (GRCm39) T7142A probably damaging Het
Tpbgl A T 7: 99,274,776 (GRCm39) D360E probably damaging Het
Traj13 G A 14: 54,443,248 (GRCm39) V17I unknown Het
Trim13 G A 14: 61,842,046 (GRCm39) R21Q possibly damaging Het
Wdr36 T C 18: 32,981,382 (GRCm39) V357A possibly damaging Het
Xdh G A 17: 74,232,006 (GRCm39) R235C probably damaging Het
Zfp971 T C 2: 177,674,736 (GRCm39) F112L probably damaging Het
Znfx1 C T 2: 166,879,738 (GRCm39) C1546Y probably damaging Het
Znfx1 T A 2: 166,880,137 (GRCm39) E1413V probably benign Het
Zscan4c A G 7: 10,743,741 (GRCm39) M447V probably benign Het
Zyx T A 6: 42,334,818 (GRCm39) D541E 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
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
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'- TAGGGTACTCAATCTGGGGC -3'
(R):5'- AAAGGACTTGTGGACTTGGCC -3'

Sequencing Primer
(F):5'- TACTCAATCTGGGGCAATGG -3'
(R):5'- GGACTTGGCCTTGGCTATCTC -3'
Posted On 2022-09-26