Incidental Mutation 'R4815:Tep1'
ID 369736
Institutional Source Beutler Lab
Gene Symbol Tep1
Ensembl Gene ENSMUSG00000006281
Gene Name telomerase associated protein 1
Synonyms Tp1
MMRRC Submission 042433-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4815 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 51061516-51108017 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51078759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1498 (L1498P)
Ref Sequence ENSEMBL: ENSMUSP00000006444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006444]
AlphaFold P97499
Predicted Effect probably damaging
Transcript: ENSMUST00000006444
AA Change: L1498P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006444
Gene: ENSMUSG00000006281
AA Change: L1498P

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 probably benign
Transcript: ENSMUST00000226430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227193
Meta Mutation Damage Score 0.8495 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 96% (76/79)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 A T 18: 65,483,026 (GRCm39) N327K probably damaging Het
Ank2 T C 3: 126,730,410 (GRCm39) T675A probably benign Het
Arap3 T C 18: 38,106,296 (GRCm39) T1516A probably benign Het
Asb18 A T 1: 89,942,147 (GRCm39) N51K probably damaging Het
C7 A G 15: 5,088,887 (GRCm39) V18A probably benign Het
Caap1 A G 4: 94,389,497 (GRCm39) V279A probably benign Het
Cacnb2 A G 2: 14,879,591 (GRCm39) D21G probably damaging Het
Ccdc171 T C 4: 83,713,458 (GRCm39) S1166P probably damaging Het
Chgb A T 2: 132,635,219 (GRCm39) H387L probably benign Het
Chp2 G A 7: 121,820,123 (GRCm39) R91Q probably damaging Het
Chuk C A 19: 44,065,686 (GRCm39) G703* probably null Het
Clmn T C 12: 104,751,825 (GRCm39) D210G probably damaging Het
Cyp4f18 A G 8: 72,749,839 (GRCm39) V270A possibly damaging Het
Dgcr2 A G 16: 17,676,483 (GRCm39) probably benign Het
Diaph1 A T 18: 38,028,256 (GRCm39) V411D unknown Het
Dkk2 C T 3: 131,879,546 (GRCm39) A75V probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dnase2a T C 8: 85,636,506 (GRCm39) V187A probably benign Het
Dusp19 A G 2: 80,461,289 (GRCm39) M193V probably benign Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Golgb1 A T 16: 36,733,477 (GRCm39) Q908L possibly damaging Het
Hsp90aa1 T C 12: 110,661,660 (GRCm39) M119V possibly damaging Het
Ice2 C T 9: 69,314,400 (GRCm39) R50C probably damaging Het
Ifi208 A T 1: 173,510,403 (GRCm39) E186V probably damaging Het
Ift122 A G 6: 115,858,517 (GRCm39) K166E possibly damaging Het
Jcad T A 18: 4,675,223 (GRCm39) L995Q possibly damaging Het
Kcnc4 A T 3: 107,365,582 (GRCm39) C209S probably benign Het
Kmt2a G A 9: 44,732,553 (GRCm39) probably benign Het
Lrriq1 T A 10: 102,980,739 (GRCm39) L1465F probably benign Het
Map3k7 C A 4: 31,988,592 (GRCm39) T247N probably damaging Het
Mctp2 T G 7: 71,909,097 (GRCm39) Q72P possibly damaging Het
Miga1 T C 3: 151,996,443 (GRCm39) Y335C probably benign Het
Ms4a14 A T 19: 11,291,641 (GRCm39) N19K probably benign Het
Mylk G A 16: 34,715,295 (GRCm39) R541Q probably damaging Het
Nav3 T C 10: 109,659,413 (GRCm39) T735A probably benign Het
Nlgn1 T A 3: 25,490,194 (GRCm39) H511L probably damaging Het
Nlrp4a A T 7: 26,150,233 (GRCm39) E613D probably benign Het
Nuf2 A G 1: 169,338,037 (GRCm39) S247P probably damaging Het
Ocstamp A G 2: 165,240,102 (GRCm39) V28A probably benign Het
Odf2 A C 2: 29,792,252 (GRCm39) E155D possibly damaging Het
Odr4 A G 1: 150,250,597 (GRCm39) C294R probably damaging Het
Or2ag13 G A 7: 106,473,444 (GRCm39) P3S probably benign Het
Or8s16 T C 15: 98,210,561 (GRCm39) N290S probably damaging Het
Otud7a T C 7: 63,379,658 (GRCm39) probably null Het
Pacsin2 A T 15: 83,269,260 (GRCm39) D11E probably damaging Het
Pcdhga5 G A 18: 37,828,247 (GRCm39) V232I probably damaging Het
Plcb3 A G 19: 6,940,352 (GRCm39) I439T possibly damaging Het
Rag1 A G 2: 101,473,861 (GRCm39) V427A probably damaging Het
Ranbp10 A T 8: 106,552,757 (GRCm39) C128* probably null Het
Rbm8a2 A G 1: 175,806,024 (GRCm39) V151A probably damaging Het
S100pbp A G 4: 129,044,726 (GRCm39) probably benign Het
Serpinb5 G T 1: 106,800,069 (GRCm39) L86F probably damaging Het
Sgo2b T C 8: 64,384,448 (GRCm39) I183V probably benign Het
Slc25a25 A T 2: 32,310,422 (GRCm39) D112E probably damaging Het
Slc30a5 C T 13: 100,950,218 (GRCm39) V103I probably damaging Het
Slc9a2 A T 1: 40,758,009 (GRCm39) I183F probably benign Het
Srrm4 T A 5: 116,613,249 (GRCm39) K141N unknown Het
Tbc1d20 T C 2: 152,153,909 (GRCm39) probably benign Het
Tdpoz6 C T 3: 93,599,593 (GRCm39) V259M probably benign Het
Tgfbi T C 13: 56,779,933 (GRCm39) M494T probably benign Het
Tox A G 4: 6,823,033 (GRCm39) S95P probably benign Het
Tpr G A 1: 150,274,359 (GRCm39) V163I probably benign Het
Trpm7 A G 2: 126,700,412 (GRCm39) S2P probably damaging Het
Ttn A G 2: 76,546,429 (GRCm39) M32328T probably damaging Het
Vps39 A T 2: 120,169,040 (GRCm39) N289K probably benign Het
Xdh C T 17: 74,213,210 (GRCm39) A847T probably damaging Het
Xndc1 G A 7: 101,722,523 (GRCm39) G63R probably null Het
Ythdc2 A G 18: 45,018,307 (GRCm39) S1330G probably benign Het
Zc3h14 C G 12: 98,719,107 (GRCm39) D157E probably damaging Het
Zc3h7b A T 15: 81,677,864 (GRCm39) K949N probably damaging Het
Zp3r A T 1: 130,526,649 (GRCm39) Y185N probably damaging Het
Other mutations in Tep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Tep1 APN 14 51,080,641 (GRCm39) missense probably damaging 1.00
IGL00490:Tep1 APN 14 51,070,930 (GRCm39) missense probably damaging 0.97
IGL01114:Tep1 APN 14 51,088,096 (GRCm39) missense probably damaging 0.98
IGL01294:Tep1 APN 14 51,067,114 (GRCm39) splice site probably benign
IGL01902:Tep1 APN 14 51,103,548 (GRCm39) splice site probably benign
IGL01910:Tep1 APN 14 51,081,569 (GRCm39) missense probably benign 0.06
IGL01925:Tep1 APN 14 51,061,955 (GRCm39) unclassified probably benign
IGL01965:Tep1 APN 14 51,100,952 (GRCm39) splice site probably benign
IGL02071:Tep1 APN 14 51,071,506 (GRCm39) missense possibly damaging 0.93
IGL02124:Tep1 APN 14 51,091,581 (GRCm39) unclassified probably benign
IGL02189:Tep1 APN 14 51,064,283 (GRCm39) missense probably benign
IGL02252:Tep1 APN 14 51,067,712 (GRCm39) missense possibly damaging 0.93
IGL02299:Tep1 APN 14 51,078,128 (GRCm39) missense probably damaging 0.99
IGL02343:Tep1 APN 14 51,066,704 (GRCm39) missense probably damaging 0.99
IGL02423:Tep1 APN 14 51,082,077 (GRCm39) missense possibly damaging 0.53
IGL02537:Tep1 APN 14 51,073,570 (GRCm39) missense probably damaging 0.96
IGL02601:Tep1 APN 14 51,070,935 (GRCm39) nonsense probably null
IGL02941:Tep1 APN 14 51,103,494 (GRCm39) missense probably damaging 0.98
IGL02990:Tep1 APN 14 51,105,703 (GRCm39) missense possibly damaging 0.86
IGL03144:Tep1 APN 14 51,081,474 (GRCm39) splice site probably benign
IGL03209:Tep1 APN 14 51,078,160 (GRCm39) splice site probably benign
R0240_Tep1_347 UTSW 14 51,100,486 (GRCm39) splice site probably benign
R0972_Tep1_893 UTSW 14 51,061,753 (GRCm39) unclassified probably benign
R1686_Tep1_375 UTSW 14 51,074,245 (GRCm39) missense probably benign 0.12
R7232_Tep1_671 UTSW 14 51,081,789 (GRCm39) missense unknown
R8009_Tep1_822 UTSW 14 51,061,687 (GRCm39) missense possibly damaging 0.93
PIT4305001:Tep1 UTSW 14 51,066,684 (GRCm39) missense possibly damaging 0.90
PIT4362001:Tep1 UTSW 14 51,103,510 (GRCm39) missense probably benign 0.23
R0058:Tep1 UTSW 14 51,071,522 (GRCm39) missense possibly damaging 0.85
R0060:Tep1 UTSW 14 51,103,486 (GRCm39) missense probably damaging 1.00
R0109:Tep1 UTSW 14 51,089,373 (GRCm39) splice site probably null
R0123:Tep1 UTSW 14 51,067,150 (GRCm39) missense possibly damaging 0.84
R0134:Tep1 UTSW 14 51,067,150 (GRCm39) missense possibly damaging 0.84
R0148:Tep1 UTSW 14 51,062,246 (GRCm39) missense possibly damaging 0.70
R0240:Tep1 UTSW 14 51,100,486 (GRCm39) splice site probably benign
R0243:Tep1 UTSW 14 51,084,444 (GRCm39) missense probably damaging 1.00
R0373:Tep1 UTSW 14 51,074,225 (GRCm39) missense possibly damaging 0.85
R0432:Tep1 UTSW 14 51,104,280 (GRCm39) small deletion probably benign
R0464:Tep1 UTSW 14 51,085,141 (GRCm39) missense probably benign 0.00
R0566:Tep1 UTSW 14 51,082,871 (GRCm39) critical splice donor site probably null
R0691:Tep1 UTSW 14 51,104,301 (GRCm39) nonsense probably null
R0787:Tep1 UTSW 14 51,066,687 (GRCm39) missense possibly damaging 0.85
R0972:Tep1 UTSW 14 51,061,753 (GRCm39) unclassified probably benign
R1263:Tep1 UTSW 14 51,082,970 (GRCm39) missense possibly damaging 0.84
R1300:Tep1 UTSW 14 51,064,512 (GRCm39) critical splice donor site probably null
R1327:Tep1 UTSW 14 51,090,556 (GRCm39) missense probably benign 0.18
R1556:Tep1 UTSW 14 51,090,499 (GRCm39) missense probably benign 0.06
R1584:Tep1 UTSW 14 51,103,494 (GRCm39) missense probably damaging 0.98
R1607:Tep1 UTSW 14 51,062,020 (GRCm39) missense probably null 0.99
R1686:Tep1 UTSW 14 51,074,245 (GRCm39) missense probably benign 0.12
R1715:Tep1 UTSW 14 51,092,024 (GRCm39) missense possibly damaging 0.92
R1778:Tep1 UTSW 14 51,067,079 (GRCm39) intron probably benign
R1993:Tep1 UTSW 14 51,061,641 (GRCm39) missense possibly damaging 0.93
R2071:Tep1 UTSW 14 51,091,739 (GRCm39) missense probably benign 0.23
R2104:Tep1 UTSW 14 51,088,037 (GRCm39) splice site probably benign
R2118:Tep1 UTSW 14 51,093,029 (GRCm39) splice site probably null
R2119:Tep1 UTSW 14 51,076,443 (GRCm39) missense probably benign 0.13
R2208:Tep1 UTSW 14 51,104,321 (GRCm39) missense probably benign 0.01
R2241:Tep1 UTSW 14 51,091,667 (GRCm39) missense probably benign 0.01
R2243:Tep1 UTSW 14 51,091,667 (GRCm39) missense probably benign 0.01
R2311:Tep1 UTSW 14 51,071,024 (GRCm39) missense possibly damaging 0.95
R2420:Tep1 UTSW 14 51,071,480 (GRCm39) missense probably benign
R2874:Tep1 UTSW 14 51,088,107 (GRCm39) missense possibly damaging 0.71
R3084:Tep1 UTSW 14 51,064,511 (GRCm39) critical splice donor site probably null
R3086:Tep1 UTSW 14 51,064,511 (GRCm39) critical splice donor site probably null
R3621:Tep1 UTSW 14 51,066,477 (GRCm39) missense probably damaging 0.99
R3815:Tep1 UTSW 14 51,105,772 (GRCm39) missense possibly damaging 0.71
R4124:Tep1 UTSW 14 51,081,191 (GRCm39) missense possibly damaging 0.93
R4125:Tep1 UTSW 14 51,081,191 (GRCm39) missense possibly damaging 0.93
R4127:Tep1 UTSW 14 51,081,191 (GRCm39) missense possibly damaging 0.93
R4134:Tep1 UTSW 14 51,082,317 (GRCm39) missense probably benign
R4152:Tep1 UTSW 14 51,075,051 (GRCm39) missense possibly damaging 0.72
R4153:Tep1 UTSW 14 51,075,051 (GRCm39) missense possibly damaging 0.72
R4191:Tep1 UTSW 14 51,074,263 (GRCm39) missense probably damaging 0.96
R4248:Tep1 UTSW 14 51,100,351 (GRCm39) missense possibly damaging 0.93
R4293:Tep1 UTSW 14 51,084,318 (GRCm39) missense probably benign
R4569:Tep1 UTSW 14 51,062,197 (GRCm39) missense probably benign 0.01
R4704:Tep1 UTSW 14 51,074,530 (GRCm39) missense probably benign 0.06
R4978:Tep1 UTSW 14 51,082,891 (GRCm39) missense possibly damaging 0.93
R4989:Tep1 UTSW 14 51,076,457 (GRCm39) missense probably benign
R5022:Tep1 UTSW 14 51,066,456 (GRCm39) missense probably benign 0.27
R5057:Tep1 UTSW 14 51,066,456 (GRCm39) missense probably benign 0.27
R5063:Tep1 UTSW 14 51,088,084 (GRCm39) missense possibly damaging 0.86
R5118:Tep1 UTSW 14 51,093,044 (GRCm39) splice site probably null
R5128:Tep1 UTSW 14 51,081,736 (GRCm39) makesense probably null
R5149:Tep1 UTSW 14 51,074,855 (GRCm39) nonsense probably null
R5171:Tep1 UTSW 14 51,062,259 (GRCm39) missense probably benign 0.01
R5201:Tep1 UTSW 14 51,105,567 (GRCm39) missense probably benign 0.01
R5260:Tep1 UTSW 14 51,076,088 (GRCm39) missense probably benign
R5339:Tep1 UTSW 14 51,082,031 (GRCm39) missense probably damaging 0.99
R5384:Tep1 UTSW 14 51,105,774 (GRCm39) missense probably damaging 0.98
R5385:Tep1 UTSW 14 51,105,774 (GRCm39) missense probably damaging 0.98
R5386:Tep1 UTSW 14 51,105,774 (GRCm39) missense probably damaging 0.98
R5594:Tep1 UTSW 14 51,067,339 (GRCm39) missense possibly damaging 0.86
R5639:Tep1 UTSW 14 51,091,062 (GRCm39) missense possibly damaging 0.85
R5749:Tep1 UTSW 14 51,081,529 (GRCm39) missense possibly damaging 0.59
R5756:Tep1 UTSW 14 51,074,836 (GRCm39) critical splice donor site probably null
R6013:Tep1 UTSW 14 51,098,505 (GRCm39) missense probably damaging 0.97
R6014:Tep1 UTSW 14 51,084,457 (GRCm39) missense probably benign 0.12
R6248:Tep1 UTSW 14 51,067,715 (GRCm39) missense probably damaging 0.98
R6264:Tep1 UTSW 14 51,082,970 (GRCm39) missense probably damaging 0.99
R6363:Tep1 UTSW 14 51,062,005 (GRCm39) missense probably benign 0.04
R6381:Tep1 UTSW 14 51,082,888 (GRCm39) missense probably damaging 0.99
R6462:Tep1 UTSW 14 51,081,836 (GRCm39) missense probably benign
R6942:Tep1 UTSW 14 51,074,194 (GRCm39) missense possibly damaging 0.85
R6951:Tep1 UTSW 14 51,071,370 (GRCm39) critical splice donor site probably null
R6979:Tep1 UTSW 14 51,076,094 (GRCm39) missense possibly damaging 0.93
R6999:Tep1 UTSW 14 51,088,162 (GRCm39) missense possibly damaging 0.86
R7099:Tep1 UTSW 14 51,081,944 (GRCm39) splice site probably null
R7208:Tep1 UTSW 14 51,062,013 (GRCm39) critical splice acceptor site probably null
R7232:Tep1 UTSW 14 51,081,789 (GRCm39) missense unknown
R7249:Tep1 UTSW 14 51,061,732 (GRCm39) missense possibly damaging 0.86
R7325:Tep1 UTSW 14 51,103,495 (GRCm39) missense probably damaging 0.99
R7409:Tep1 UTSW 14 51,104,312 (GRCm39) missense possibly damaging 0.67
R7499:Tep1 UTSW 14 51,091,047 (GRCm39) missense probably damaging 0.99
R7542:Tep1 UTSW 14 51,099,948 (GRCm39) nonsense probably null
R7806:Tep1 UTSW 14 51,074,266 (GRCm39) missense possibly damaging 0.85
R7825:Tep1 UTSW 14 51,081,344 (GRCm39) critical splice acceptor site probably null
R7901:Tep1 UTSW 14 51,064,308 (GRCm39) missense possibly damaging 0.88
R7961:Tep1 UTSW 14 51,061,687 (GRCm39) missense possibly damaging 0.93
R7993:Tep1 UTSW 14 51,067,710 (GRCm39) missense probably benign 0.41
R8009:Tep1 UTSW 14 51,061,687 (GRCm39) missense possibly damaging 0.93
R8085:Tep1 UTSW 14 51,066,753 (GRCm39) missense probably benign 0.11
R8299:Tep1 UTSW 14 51,105,502 (GRCm39) missense probably benign 0.06
R8330:Tep1 UTSW 14 51,085,162 (GRCm39) missense possibly damaging 0.86
R8396:Tep1 UTSW 14 51,074,529 (GRCm39) missense probably benign 0.23
R8475:Tep1 UTSW 14 51,078,712 (GRCm39) missense probably damaging 1.00
R8695:Tep1 UTSW 14 51,082,894 (GRCm39) missense possibly damaging 0.85
R8726:Tep1 UTSW 14 51,085,080 (GRCm39) missense probably damaging 0.98
R8812:Tep1 UTSW 14 51,074,589 (GRCm39) missense probably damaging 0.98
R9152:Tep1 UTSW 14 51,104,162 (GRCm39) missense probably benign 0.14
R9269:Tep1 UTSW 14 51,081,766 (GRCm39) missense probably damaging 0.98
R9299:Tep1 UTSW 14 51,081,988 (GRCm39) splice site probably benign
R9365:Tep1 UTSW 14 51,064,597 (GRCm39) missense probably damaging 1.00
R9398:Tep1 UTSW 14 51,066,429 (GRCm39) missense possibly damaging 0.85
R9408:Tep1 UTSW 14 51,074,637 (GRCm39) missense possibly damaging 0.85
R9445:Tep1 UTSW 14 51,082,967 (GRCm39) missense possibly damaging 0.95
R9487:Tep1 UTSW 14 51,066,687 (GRCm39) missense possibly damaging 0.93
R9555:Tep1 UTSW 14 51,105,888 (GRCm39) missense possibly damaging 0.52
R9597:Tep1 UTSW 14 51,100,465 (GRCm39) missense probably damaging 0.99
R9715:Tep1 UTSW 14 51,081,759 (GRCm39) missense
R9732:Tep1 UTSW 14 51,088,162 (GRCm39) missense probably benign 0.33
R9777:Tep1 UTSW 14 51,076,443 (GRCm39) nonsense probably null
RF007:Tep1 UTSW 14 51,098,402 (GRCm39) missense possibly damaging 0.92
X0024:Tep1 UTSW 14 51,064,576 (GRCm39) missense possibly damaging 0.86
X0060:Tep1 UTSW 14 51,074,221 (GRCm39) missense probably benign 0.25
Z1177:Tep1 UTSW 14 51,085,222 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCTTCCCACTGCAGCATATC -3'
(R):5'- TCGGTAAAGCCCCACACTTG -3'

Sequencing Primer
(F):5'- ATATCCGAGCTCTTAGGCTGCAG -3'
(R):5'- TGCCTCCCAGGTCCTGAATG -3'
Posted On 2016-02-04