Incidental Mutation 'R6381:Tep1'
ID 515333
Institutional Source Beutler Lab
Gene Symbol Tep1
Ensembl Gene ENSMUSG00000006281
Gene Name telomerase associated protein 1
Synonyms Tp1
MMRRC Submission 044530-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6381 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 50824059-50870560 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50845431 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1040 (D1040G)
Ref Sequence ENSEMBL: ENSMUSP00000006444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006444]
AlphaFold P97499
Predicted Effect probably damaging
Transcript: ENSMUST00000006444
AA Change: D1040G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006444
Gene: ENSMUSG00000006281
AA Change: D1040G

DomainStartEndE-ValueType
Pfam:TEP1_N 1 29 2.8e-20 PFAM
Pfam:TEP1_N 31 59 1.4e-20 PFAM
Pfam:TEP1_N 61 89 3.1e-20 PFAM
Pfam:TEP1_N 91 119 3e-20 PFAM
low complexity region 195 207 N/A INTRINSIC
low complexity region 211 229 N/A INTRINSIC
Pfam:TROVE 230 685 3.2e-136 PFAM
Pfam:DUF4062 909 1020 2.4e-22 PFAM
Pfam:NACHT 1171 1346 9.2e-38 PFAM
low complexity region 1393 1405 N/A INTRINSIC
low complexity region 1622 1641 N/A INTRINSIC
WD40 1673 1711 2.98e-1 SMART
WD40 1714 1752 5.33e0 SMART
WD40 1755 1794 1.52e-4 SMART
WD40 1797 1835 3.27e-4 SMART
WD40 1838 1877 3.09e-1 SMART
WD40 1880 1919 2.24e-2 SMART
WD40 1925 1962 4.95e0 SMART
WD40 1968 2003 2.29e1 SMART
WD40 2008 2045 1.72e0 SMART
WD40 2058 2097 3.89e-11 SMART
WD40 2103 2142 3.93e-7 SMART
WD40 2145 2182 4.38e-5 SMART
WD40 2184 2232 1.24e0 SMART
WD40 2235 2273 1.14e-3 SMART
WD40 2275 2315 4.46e-1 SMART
Blast:WD40 2316 2353 4e-12 BLAST
WD40 2546 2583 6.79e-2 SMART
Predicted Effect unknown
Transcript: ENSMUST00000226430
AA Change: D315G
Meta Mutation Damage Score 0.3999 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 97% (56/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a disruption in this gene show no obvious phenotype. No changes are seen in telomerase activity or telomere length. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T A 18: 70,467,717 (GRCm38) M365L probably damaging Het
Aars2 A G 17: 45,518,545 (GRCm38) E786G probably benign Het
Adamts12 G T 15: 11,256,994 (GRCm38) V478F possibly damaging Het
Akr1c21 T A 13: 4,574,184 (GRCm38) D12E probably damaging Het
Aplf A T 6: 87,658,977 (GRCm38) M118K probably damaging Het
Apobec1 A G 6: 122,578,931 (GRCm38) L189P probably damaging Het
BC061237 A G 14: 44,504,256 (GRCm38) Q152R possibly damaging Het
Bche A G 3: 73,701,799 (GRCm38) I98T probably benign Het
Cc2d2a G T 5: 43,715,776 (GRCm38) R983L possibly damaging Het
Ccnd3 T C 17: 47,505,224 (GRCm38) probably benign Het
Cd74 G T 18: 60,811,363 (GRCm38) C215F probably damaging Het
Cep97 C T 16: 55,922,171 (GRCm38) A138T probably damaging Het
Ces1e T A 8: 93,217,578 (GRCm38) N204I probably damaging Het
Dicer1 T C 12: 104,696,462 (GRCm38) D1620G probably benign Het
Dnah17 A G 11: 118,129,185 (GRCm38) V12A probably benign Het
Dstyk T A 1: 132,456,765 (GRCm38) probably null Het
Elapor1 T C 3: 108,481,814 (GRCm38) K222E possibly damaging Het
Eml2 G A 7: 19,201,163 (GRCm38) V432I probably damaging Het
Entr1 A G 2: 26,385,081 (GRCm38) probably null Het
Gm10570 G T 4: 130,308,228 (GRCm38) probably benign Het
Gm7145 C T 1: 117,985,939 (GRCm38) Q184* probably null Het
Gpat2 G C 2: 127,431,918 (GRCm38) G294R possibly damaging Het
Gtse1 G A 15: 85,862,148 (GRCm38) R55H probably benign Het
Hdac4 G T 1: 91,984,525 (GRCm38) Q381K possibly damaging Het
Ifit3b T C 19: 34,612,471 (GRCm38) I349T probably benign Het
Inpp5a A T 7: 139,400,673 (GRCm38) D9V probably benign Het
Irs1 T C 1: 82,287,684 (GRCm38) N937S possibly damaging Het
Kcna4 T C 2: 107,294,972 (GRCm38) M17T probably benign Het
Lipa T A 19: 34,524,746 (GRCm38) M33L probably benign Het
Marchf6 G T 15: 31,467,692 (GRCm38) Q790K probably benign Het
Mccc1 G A 3: 35,976,727 (GRCm38) P397S probably benign Het
Mrgprb2 T C 7: 48,552,390 (GRCm38) I196V probably benign Het
Myh15 T A 16: 49,101,481 (GRCm38) S463R probably damaging Het
Nab2 T C 10: 127,664,351 (GRCm38) K291E probably damaging Het
Neto2 T C 8: 85,642,509 (GRCm38) T294A probably damaging Het
Nkx1-1 T C 5: 33,433,976 (GRCm38) M1V probably null Het
Or2h2 C T 17: 37,086,085 (GRCm38) V27I probably benign Het
Pla2g4c C T 7: 13,344,008 (GRCm38) T357I probably benign Het
Psmd2 A G 16: 20,655,273 (GRCm38) E242G probably benign Het
Rnase12 A C 14: 51,057,094 (GRCm38) Y43D probably damaging Het
Rpl18 T A 7: 45,719,592 (GRCm38) F58I probably damaging Het
Ryr1 T G 7: 29,075,257 (GRCm38) M2313L possibly damaging Het
Scn4a G T 11: 106,320,311 (GRCm38) Q1627K probably damaging Het
Scnn1g A G 7: 121,767,499 (GRCm38) S640G probably benign Het
Sdr9c7 T A 10: 127,903,673 (GRCm38) M219K probably benign Het
Soat1 A T 1: 156,435,803 (GRCm38) M392K probably damaging Het
Spata18 G T 5: 73,675,216 (GRCm38) K337N probably damaging Het
Supt16 A G 14: 52,179,546 (GRCm38) V325A probably benign Het
Syt2 A G 1: 134,746,850 (GRCm38) E342G probably damaging Het
Tars2 A T 3: 95,754,487 (GRCm38) L37* probably null Het
Tmc8 A T 11: 117,791,600 (GRCm38) S613C probably null Het
Top3a C T 11: 60,744,023 (GRCm38) C660Y probably damaging Het
Tpsg1 C T 17: 25,372,569 (GRCm38) R48C probably damaging Het
Vmn2r57 T C 7: 41,428,818 (GRCm38) N72S probably benign Het
Whrn G A 4: 63,472,684 (GRCm38) T269I probably benign Het
Zfp759 T A 13: 67,138,905 (GRCm38) Y173* probably null Het
Other mutations in Tep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Tep1 APN 14 50,843,184 (GRCm38) missense probably damaging 1.00
IGL00490:Tep1 APN 14 50,833,473 (GRCm38) missense probably damaging 0.97
IGL01114:Tep1 APN 14 50,850,639 (GRCm38) missense probably damaging 0.98
IGL01294:Tep1 APN 14 50,829,657 (GRCm38) splice site probably benign
IGL01902:Tep1 APN 14 50,866,091 (GRCm38) splice site probably benign
IGL01910:Tep1 APN 14 50,844,112 (GRCm38) missense probably benign 0.06
IGL01925:Tep1 APN 14 50,824,498 (GRCm38) unclassified probably benign
IGL01965:Tep1 APN 14 50,863,495 (GRCm38) splice site probably benign
IGL02071:Tep1 APN 14 50,834,049 (GRCm38) missense possibly damaging 0.93
IGL02124:Tep1 APN 14 50,854,124 (GRCm38) unclassified probably benign
IGL02189:Tep1 APN 14 50,826,826 (GRCm38) missense probably benign
IGL02252:Tep1 APN 14 50,830,255 (GRCm38) missense possibly damaging 0.93
IGL02299:Tep1 APN 14 50,840,671 (GRCm38) missense probably damaging 0.99
IGL02343:Tep1 APN 14 50,829,247 (GRCm38) missense probably damaging 0.99
IGL02423:Tep1 APN 14 50,844,620 (GRCm38) missense possibly damaging 0.53
IGL02537:Tep1 APN 14 50,836,113 (GRCm38) missense probably damaging 0.96
IGL02601:Tep1 APN 14 50,833,478 (GRCm38) nonsense probably null
IGL02941:Tep1 APN 14 50,866,037 (GRCm38) missense probably damaging 0.98
IGL02990:Tep1 APN 14 50,868,246 (GRCm38) missense possibly damaging 0.86
IGL03144:Tep1 APN 14 50,844,017 (GRCm38) splice site probably benign
IGL03209:Tep1 APN 14 50,840,703 (GRCm38) splice site probably benign
R0240_Tep1_347 UTSW 14 50,863,029 (GRCm38) splice site probably benign
R0972_Tep1_893 UTSW 14 50,824,296 (GRCm38) unclassified probably benign
R1686_Tep1_375 UTSW 14 50,836,788 (GRCm38) missense probably benign 0.12
R7232_Tep1_671 UTSW 14 50,844,332 (GRCm38) missense unknown
R8009_Tep1_822 UTSW 14 50,824,230 (GRCm38) missense possibly damaging 0.93
PIT4305001:Tep1 UTSW 14 50,829,227 (GRCm38) missense possibly damaging 0.90
PIT4362001:Tep1 UTSW 14 50,866,053 (GRCm38) missense probably benign 0.23
R0058:Tep1 UTSW 14 50,834,065 (GRCm38) missense possibly damaging 0.85
R0060:Tep1 UTSW 14 50,866,029 (GRCm38) missense probably damaging 1.00
R0109:Tep1 UTSW 14 50,851,916 (GRCm38) splice site probably null
R0123:Tep1 UTSW 14 50,829,693 (GRCm38) missense possibly damaging 0.84
R0134:Tep1 UTSW 14 50,829,693 (GRCm38) missense possibly damaging 0.84
R0148:Tep1 UTSW 14 50,824,789 (GRCm38) missense possibly damaging 0.70
R0240:Tep1 UTSW 14 50,863,029 (GRCm38) splice site probably benign
R0243:Tep1 UTSW 14 50,846,987 (GRCm38) missense probably damaging 1.00
R0373:Tep1 UTSW 14 50,836,768 (GRCm38) missense possibly damaging 0.85
R0432:Tep1 UTSW 14 50,866,823 (GRCm38) small deletion probably benign
R0464:Tep1 UTSW 14 50,847,684 (GRCm38) missense probably benign 0.00
R0566:Tep1 UTSW 14 50,845,414 (GRCm38) critical splice donor site probably null
R0691:Tep1 UTSW 14 50,866,844 (GRCm38) nonsense probably null
R0787:Tep1 UTSW 14 50,829,230 (GRCm38) missense possibly damaging 0.85
R0972:Tep1 UTSW 14 50,824,296 (GRCm38) unclassified probably benign
R1263:Tep1 UTSW 14 50,845,513 (GRCm38) missense possibly damaging 0.84
R1300:Tep1 UTSW 14 50,827,055 (GRCm38) critical splice donor site probably null
R1327:Tep1 UTSW 14 50,853,099 (GRCm38) missense probably benign 0.18
R1556:Tep1 UTSW 14 50,853,042 (GRCm38) missense probably benign 0.06
R1584:Tep1 UTSW 14 50,866,037 (GRCm38) missense probably damaging 0.98
R1607:Tep1 UTSW 14 50,824,563 (GRCm38) missense probably null 0.99
R1686:Tep1 UTSW 14 50,836,788 (GRCm38) missense probably benign 0.12
R1715:Tep1 UTSW 14 50,854,567 (GRCm38) missense possibly damaging 0.92
R1778:Tep1 UTSW 14 50,829,622 (GRCm38) intron probably benign
R1993:Tep1 UTSW 14 50,824,184 (GRCm38) missense possibly damaging 0.93
R2071:Tep1 UTSW 14 50,854,282 (GRCm38) missense probably benign 0.23
R2104:Tep1 UTSW 14 50,850,580 (GRCm38) splice site probably benign
R2118:Tep1 UTSW 14 50,855,572 (GRCm38) splice site probably null
R2119:Tep1 UTSW 14 50,838,986 (GRCm38) missense probably benign 0.13
R2208:Tep1 UTSW 14 50,866,864 (GRCm38) missense probably benign 0.01
R2241:Tep1 UTSW 14 50,854,210 (GRCm38) missense probably benign 0.01
R2243:Tep1 UTSW 14 50,854,210 (GRCm38) missense probably benign 0.01
R2311:Tep1 UTSW 14 50,833,567 (GRCm38) missense possibly damaging 0.95
R2420:Tep1 UTSW 14 50,834,023 (GRCm38) missense probably benign
R2874:Tep1 UTSW 14 50,850,650 (GRCm38) missense possibly damaging 0.71
R3084:Tep1 UTSW 14 50,827,054 (GRCm38) critical splice donor site probably null
R3086:Tep1 UTSW 14 50,827,054 (GRCm38) critical splice donor site probably null
R3621:Tep1 UTSW 14 50,829,020 (GRCm38) missense probably damaging 0.99
R3815:Tep1 UTSW 14 50,868,315 (GRCm38) missense possibly damaging 0.71
R4124:Tep1 UTSW 14 50,843,734 (GRCm38) missense possibly damaging 0.93
R4125:Tep1 UTSW 14 50,843,734 (GRCm38) missense possibly damaging 0.93
R4127:Tep1 UTSW 14 50,843,734 (GRCm38) missense possibly damaging 0.93
R4134:Tep1 UTSW 14 50,844,860 (GRCm38) missense probably benign
R4152:Tep1 UTSW 14 50,837,594 (GRCm38) missense possibly damaging 0.72
R4153:Tep1 UTSW 14 50,837,594 (GRCm38) missense possibly damaging 0.72
R4191:Tep1 UTSW 14 50,836,806 (GRCm38) missense probably damaging 0.96
R4248:Tep1 UTSW 14 50,862,894 (GRCm38) missense possibly damaging 0.93
R4293:Tep1 UTSW 14 50,846,861 (GRCm38) missense probably benign
R4569:Tep1 UTSW 14 50,824,740 (GRCm38) missense probably benign 0.01
R4704:Tep1 UTSW 14 50,837,073 (GRCm38) missense probably benign 0.06
R4815:Tep1 UTSW 14 50,841,302 (GRCm38) missense probably damaging 0.99
R4978:Tep1 UTSW 14 50,845,434 (GRCm38) missense possibly damaging 0.93
R4989:Tep1 UTSW 14 50,839,000 (GRCm38) missense probably benign
R5022:Tep1 UTSW 14 50,828,999 (GRCm38) missense probably benign 0.27
R5057:Tep1 UTSW 14 50,828,999 (GRCm38) missense probably benign 0.27
R5063:Tep1 UTSW 14 50,850,627 (GRCm38) missense possibly damaging 0.86
R5118:Tep1 UTSW 14 50,855,587 (GRCm38) splice site probably null
R5128:Tep1 UTSW 14 50,844,279 (GRCm38) makesense probably null
R5149:Tep1 UTSW 14 50,837,398 (GRCm38) nonsense probably null
R5171:Tep1 UTSW 14 50,824,802 (GRCm38) missense probably benign 0.01
R5201:Tep1 UTSW 14 50,868,110 (GRCm38) missense probably benign 0.01
R5260:Tep1 UTSW 14 50,838,631 (GRCm38) missense probably benign
R5339:Tep1 UTSW 14 50,844,574 (GRCm38) missense probably damaging 0.99
R5384:Tep1 UTSW 14 50,868,317 (GRCm38) missense probably damaging 0.98
R5385:Tep1 UTSW 14 50,868,317 (GRCm38) missense probably damaging 0.98
R5386:Tep1 UTSW 14 50,868,317 (GRCm38) missense probably damaging 0.98
R5594:Tep1 UTSW 14 50,829,882 (GRCm38) missense possibly damaging 0.86
R5639:Tep1 UTSW 14 50,853,605 (GRCm38) missense possibly damaging 0.85
R5749:Tep1 UTSW 14 50,844,072 (GRCm38) missense possibly damaging 0.59
R5756:Tep1 UTSW 14 50,837,379 (GRCm38) critical splice donor site probably null
R6013:Tep1 UTSW 14 50,861,048 (GRCm38) missense probably damaging 0.97
R6014:Tep1 UTSW 14 50,847,000 (GRCm38) missense probably benign 0.12
R6248:Tep1 UTSW 14 50,830,258 (GRCm38) missense probably damaging 0.98
R6264:Tep1 UTSW 14 50,845,513 (GRCm38) missense probably damaging 0.99
R6363:Tep1 UTSW 14 50,824,548 (GRCm38) missense probably benign 0.04
R6462:Tep1 UTSW 14 50,844,379 (GRCm38) missense probably benign
R6942:Tep1 UTSW 14 50,836,737 (GRCm38) missense possibly damaging 0.85
R6951:Tep1 UTSW 14 50,833,913 (GRCm38) critical splice donor site probably null
R6979:Tep1 UTSW 14 50,838,637 (GRCm38) missense possibly damaging 0.93
R6999:Tep1 UTSW 14 50,850,705 (GRCm38) missense possibly damaging 0.86
R7099:Tep1 UTSW 14 50,844,487 (GRCm38) splice site probably null
R7208:Tep1 UTSW 14 50,824,556 (GRCm38) critical splice acceptor site probably null
R7232:Tep1 UTSW 14 50,844,332 (GRCm38) missense unknown
R7249:Tep1 UTSW 14 50,824,275 (GRCm38) missense possibly damaging 0.86
R7325:Tep1 UTSW 14 50,866,038 (GRCm38) missense probably damaging 0.99
R7409:Tep1 UTSW 14 50,866,855 (GRCm38) missense possibly damaging 0.67
R7499:Tep1 UTSW 14 50,853,590 (GRCm38) missense probably damaging 0.99
R7542:Tep1 UTSW 14 50,862,491 (GRCm38) nonsense probably null
R7806:Tep1 UTSW 14 50,836,809 (GRCm38) missense possibly damaging 0.85
R7825:Tep1 UTSW 14 50,843,887 (GRCm38) critical splice acceptor site probably null
R7901:Tep1 UTSW 14 50,826,851 (GRCm38) missense possibly damaging 0.88
R7961:Tep1 UTSW 14 50,824,230 (GRCm38) missense possibly damaging 0.93
R7993:Tep1 UTSW 14 50,830,253 (GRCm38) missense probably benign 0.41
R8009:Tep1 UTSW 14 50,824,230 (GRCm38) missense possibly damaging 0.93
R8085:Tep1 UTSW 14 50,829,296 (GRCm38) missense probably benign 0.11
R8299:Tep1 UTSW 14 50,868,045 (GRCm38) missense probably benign 0.06
R8330:Tep1 UTSW 14 50,847,705 (GRCm38) missense possibly damaging 0.86
R8396:Tep1 UTSW 14 50,837,072 (GRCm38) missense probably benign 0.23
R8475:Tep1 UTSW 14 50,841,255 (GRCm38) missense probably damaging 1.00
R8695:Tep1 UTSW 14 50,845,437 (GRCm38) missense possibly damaging 0.85
R8726:Tep1 UTSW 14 50,847,623 (GRCm38) missense probably damaging 0.98
R8812:Tep1 UTSW 14 50,837,132 (GRCm38) missense probably damaging 0.98
R9152:Tep1 UTSW 14 50,866,705 (GRCm38) missense probably benign 0.14
R9269:Tep1 UTSW 14 50,844,309 (GRCm38) missense probably damaging 0.98
R9299:Tep1 UTSW 14 50,844,531 (GRCm38) splice site probably benign
R9365:Tep1 UTSW 14 50,827,140 (GRCm38) missense probably damaging 1.00
R9398:Tep1 UTSW 14 50,828,972 (GRCm38) missense possibly damaging 0.85
R9408:Tep1 UTSW 14 50,837,180 (GRCm38) missense possibly damaging 0.85
R9445:Tep1 UTSW 14 50,845,510 (GRCm38) missense possibly damaging 0.95
R9487:Tep1 UTSW 14 50,829,230 (GRCm38) missense possibly damaging 0.93
R9555:Tep1 UTSW 14 50,868,431 (GRCm38) missense possibly damaging 0.52
R9597:Tep1 UTSW 14 50,863,008 (GRCm38) missense probably damaging 0.99
R9715:Tep1 UTSW 14 50,844,302 (GRCm38) missense
R9732:Tep1 UTSW 14 50,850,705 (GRCm38) missense probably benign 0.33
R9777:Tep1 UTSW 14 50,838,986 (GRCm38) nonsense probably null
RF007:Tep1 UTSW 14 50,860,945 (GRCm38) missense possibly damaging 0.92
X0024:Tep1 UTSW 14 50,827,119 (GRCm38) missense possibly damaging 0.86
X0060:Tep1 UTSW 14 50,836,764 (GRCm38) missense probably benign 0.25
Z1177:Tep1 UTSW 14 50,847,765 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCAGGTTTCCAGGCATCTG -3'
(R):5'- TTCCAGAGATGGGCTGATGC -3'

Sequencing Primer
(F):5'- CTGTCATCAGCCAGGAGATAAG -3'
(R):5'- CTGATGCTTGGGACTGACC -3'
Posted On 2018-05-04