Incidental Mutation 'R4125:Tep1'
ID 315369
Institutional Source Beutler Lab
Gene Symbol Tep1
Ensembl Gene ENSMUSG00000006281
Gene Name telomerase associated protein 1
Synonyms Tp1
MMRRC Submission 041633-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4125 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 51061516-51108017 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 51081191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 1349 (R1349Q)
Ref Sequence ENSEMBL: ENSMUSP00000006444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006444]
AlphaFold P97499
Predicted Effect possibly damaging
Transcript: ENSMUST00000006444
AA Change: R1349Q

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000006444
Gene: ENSMUSG00000006281
AA Change: R1349Q

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
Meta Mutation Damage Score 0.0975 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (52/53)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 T A 3: 98,068,679 (GRCm39) C43S probably damaging Het
Adamts6 A T 13: 104,449,412 (GRCm39) Y274F probably damaging Het
Ap2b1 A G 11: 83,256,471 (GRCm39) probably null Het
Atm A C 9: 53,361,921 (GRCm39) L2732R probably damaging Het
Bbox1 A G 2: 110,100,525 (GRCm39) V224A probably benign Het
Bmpr1a T C 14: 34,156,690 (GRCm39) D112G probably benign Het
Cdk19 A G 10: 40,270,391 (GRCm39) I67V probably benign Het
Cds2 A G 2: 132,139,191 (GRCm39) T145A probably benign Het
Chd9 A G 8: 91,777,912 (GRCm39) D2641G probably damaging Het
Chn2 G T 6: 54,249,963 (GRCm39) R24M probably damaging Het
Chuk T C 19: 44,088,613 (GRCm39) I121V probably null Het
Ctsr A T 13: 61,309,659 (GRCm39) D183E probably benign Het
Elp3 T C 14: 65,797,630 (GRCm39) E347G possibly damaging Het
Fhip1a A G 3: 85,572,690 (GRCm39) S988P possibly damaging Het
Gnas A G 2: 174,141,958 (GRCm39) N709S possibly damaging Het
Gramd2b T C 18: 56,618,296 (GRCm39) S199P probably damaging Het
Gtf3c1 A T 7: 125,246,622 (GRCm39) C1562* probably null Het
Ifit1bl1 T A 19: 34,572,188 (GRCm39) I90F probably damaging Het
Igf2r A T 17: 12,921,141 (GRCm39) H1313Q possibly damaging Het
Ighj4 T C 12: 113,392,176 (GRCm39) probably benign Het
Kansl2 G T 15: 98,429,636 (GRCm39) P132Q possibly damaging Het
Lman1 T C 18: 66,120,932 (GRCm39) H430R possibly damaging Het
Lrrk2 T C 15: 91,699,686 (GRCm39) I2511T probably benign Het
Lvrn C A 18: 47,010,036 (GRCm39) P395T possibly damaging Het
Myrip C A 9: 120,293,764 (GRCm39) S753* probably null Het
Nectin4 A G 1: 171,213,301 (GRCm39) S408G probably benign Het
Or14j8 A G 17: 38,263,681 (GRCm39) I78T probably benign Het
Or52ae9 T C 7: 103,390,207 (GRCm39) K80R probably benign Het
Pcdhb13 T C 18: 37,576,873 (GRCm39) I417T probably damaging Het
Per2 T C 1: 91,357,172 (GRCm39) T664A possibly damaging Het
Plec A T 15: 76,056,962 (GRCm39) L4347Q probably damaging Het
Poln A G 5: 34,261,295 (GRCm39) S561P probably benign Het
Polr1a T C 6: 71,942,690 (GRCm39) F1177L probably benign Het
Pramel24 C T 4: 143,452,850 (GRCm39) R94* probably null Het
Ptprb A T 10: 116,189,754 (GRCm39) R1804S probably benign Het
Rhof C T 5: 123,257,588 (GRCm39) V181M probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc22a12 T C 19: 6,588,818 (GRCm39) E281G probably damaging Het
Slco6b1 T A 1: 96,915,622 (GRCm39) noncoding transcript Het
Stac C A 9: 111,433,126 (GRCm39) probably null Het
Tcof1 C A 18: 60,952,673 (GRCm39) A898S unknown Het
Thoc6 A T 17: 23,888,319 (GRCm39) probably benign Het
Tmem179 A T 12: 112,477,461 (GRCm39) F8I possibly damaging Het
Tnpo3 A G 6: 29,560,091 (GRCm39) L684P probably damaging Het
Ubash3a T C 17: 31,456,249 (GRCm39) Y506H probably damaging Het
Umps G A 16: 33,777,288 (GRCm39) Q431* probably null Het
Unc13c A G 9: 73,481,289 (GRCm39) probably null Het
Vmn1r210 A T 13: 23,011,779 (GRCm39) M169K probably benign Het
Zfp946 C T 17: 22,673,548 (GRCm39) Q101* probably null 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
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
R4815:Tep1 UTSW 14 51,078,759 (GRCm39) missense probably damaging 0.99
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'- CCCTAGGGAGATAGATCACCATG -3'
(R):5'- CTTCGTACAAATGTCACAGCG -3'

Sequencing Primer
(F):5'- TGGTCCTGTGAAACATCAGC -3'
(R):5'- ATGTCACAGCGAGTACACCTGG -3'
Posted On 2015-05-14