Incidental Mutation 'R1556:Tep1'
ID 170297
Institutional Source Beutler Lab
Gene Symbol Tep1
Ensembl Gene ENSMUSG00000006281
Gene Name telomerase associated protein 1
Synonyms Tp1
MMRRC Submission 039595-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1556 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 51061516-51108017 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51090499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 740 (T740A)
Ref Sequence ENSEMBL: ENSMUSP00000006444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006444]
AlphaFold P97499
Predicted Effect probably benign
Transcript: ENSMUST00000006444
AA Change: T740A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000006444
Gene: ENSMUSG00000006281
AA Change: T740A

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: T15A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226789
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 73,203,477 (GRCm39) S302P probably damaging Het
Anapc1 T C 2: 128,466,819 (GRCm39) T1626A probably benign Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Arid5a T A 1: 36,359,245 (GRCm39) Y520* probably null Het
Aven G A 2: 112,461,230 (GRCm39) M215I probably damaging Het
Cabyr A G 18: 12,877,837 (GRCm39) D58G probably damaging Het
Ccdc146 A G 5: 21,535,551 (GRCm39) Y168H probably damaging Het
Ccnd2 A T 6: 127,107,363 (GRCm39) S269T probably benign Het
Cd68 T A 11: 69,556,676 (GRCm39) T44S probably damaging Het
Clstn2 A T 9: 97,338,558 (GRCm39) I867N probably benign Het
Cmss1 C T 16: 57,136,560 (GRCm39) R104H probably benign Het
Col6a6 A G 9: 105,586,672 (GRCm39) V1783A possibly damaging Het
Dach2 T C X: 112,208,214 (GRCm39) S31P probably benign Het
Dpp8 T A 9: 64,958,761 (GRCm39) W279R probably damaging Het
Fras1 A T 5: 96,890,921 (GRCm39) I2817F possibly damaging Het
Gabrr3 G A 16: 59,281,763 (GRCm39) D373N probably benign Het
Gdf7 T C 12: 8,351,698 (GRCm39) N79S unknown Het
Gpam A G 19: 55,064,763 (GRCm39) V647A possibly damaging Het
Gpatch1 T C 7: 34,994,776 (GRCm39) T497A probably benign Het
Grin2a A T 16: 9,525,579 (GRCm39) F337L probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
H2-Aa A T 17: 34,503,390 (GRCm39) V69D possibly damaging Het
H2-M10.5 T C 17: 37,084,205 (GRCm39) Y56H probably damaging Het
Kcnu1 G A 8: 26,351,219 (GRCm39) probably null Het
Krt77 A G 15: 101,769,713 (GRCm39) S386P probably damaging Het
L3mbtl2 T A 15: 81,566,203 (GRCm39) M342K probably benign Het
Ldlrad1 A G 4: 107,075,010 (GRCm39) T186A probably benign Het
Lins1 C A 7: 66,360,385 (GRCm39) C168* probably null Het
Lrrtm3 G A 10: 63,923,928 (GRCm39) T413M probably damaging Het
Macf1 T C 4: 123,348,813 (GRCm39) D4038G probably damaging Het
Mark3 T G 12: 111,594,275 (GRCm39) N308K probably damaging Het
Mdga2 T A 12: 66,597,367 (GRCm39) Y709F possibly damaging Het
Mtus2 T A 5: 148,014,198 (GRCm39) S330R probably benign Het
Or1p1 T A 11: 74,179,762 (GRCm39) C97S probably damaging Het
Or4k15c G A 14: 50,321,916 (GRCm39) A74V possibly damaging Het
Or51a24 T A 7: 103,733,468 (GRCm39) H273L probably benign Het
Or6c76 T C 10: 129,612,242 (GRCm39) V168A probably benign Het
Ovgp1 A G 3: 105,894,068 (GRCm39) probably benign Het
P4ha2 A G 11: 54,015,836 (GRCm39) T408A probably damaging Het
Pcdh8 T G 14: 80,007,843 (GRCm39) D240A probably damaging Het
Pcyt2 T C 11: 120,502,911 (GRCm39) probably null Het
Pecr T A 1: 72,298,542 (GRCm39) I293L probably benign Het
Pogk A G 1: 166,226,402 (GRCm39) V583A possibly damaging Het
Prkg1 T C 19: 30,602,143 (GRCm39) K371R probably benign Het
Psmd2 T A 16: 20,474,335 (GRCm39) M297K possibly damaging Het
Rgs12 A G 5: 35,196,626 (GRCm39) R769G possibly damaging Het
Sgtb T A 13: 104,276,284 (GRCm39) N237K probably damaging Het
Sh3bgrl2 T C 9: 83,476,751 (GRCm39) V91A probably damaging Het
Slc4a1ap G A 5: 31,691,554 (GRCm39) probably null Het
Slc4a7 T C 14: 14,778,872 (GRCm38) V940A probably benign Het
Tnk2 G T 16: 32,489,737 (GRCm39) probably null Het
Trpv2 A G 11: 62,483,059 (GRCm39) Y450C probably damaging Het
Tut7 T C 13: 59,948,054 (GRCm39) T354A probably benign Het
Tvp23a A T 16: 10,264,862 (GRCm39) D16E probably damaging Het
Twnk T C 19: 44,997,850 (GRCm39) F460L possibly damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Urb2 T C 8: 124,757,356 (GRCm39) L1021P probably damaging Het
Vps13c T C 9: 67,837,993 (GRCm39) Y1848H probably damaging Het
Vwa8 T G 14: 79,324,121 (GRCm39) N1141K probably benign Het
Yipf3 A G 17: 46,561,793 (GRCm39) Y200C probably damaging Het
Zbtb38 A G 9: 96,569,044 (GRCm39) V680A probably benign Het
Znrf3 T C 11: 5,231,347 (GRCm39) E722G probably benign Het
Zzef1 T A 11: 72,806,059 (GRCm39) L2665H 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
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
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'- ACCTGAAGCATCAGTCACTTTCTCTCT -3'
(R):5'- CCACAGTCTTTCATTTCCCCAAACCA -3'

Sequencing Primer
(F):5'- cagaaagagagagagagacagag -3'
(R):5'- TTTCCTGATGATGCCCTGCT -3'
Posted On 2014-04-13