Incidental Mutation 'R7590:Ten1'
ID 587369
Institutional Source Beutler Lab
Gene Symbol Ten1
Ensembl Gene ENSMUSG00000020778
Gene Name TEN1 telomerase capping complex subunit
Synonyms 2310004N24Rik
MMRRC Submission 045669-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R7590 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 116089681-116106144 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116096466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 40 (L40P)
Ref Sequence ENSEMBL: ENSMUSP00000021130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021130]
AlphaFold Q9D7K2
Predicted Effect possibly damaging
Transcript: ENSMUST00000021130
AA Change: L40P

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021130
Gene: ENSMUSG00000020778
AA Change: L40P

DomainStartEndE-ValueType
Pfam:Ten1_2 2 118 1.6e-44 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] C17ORF106, or TEN1, appears to function in a telomere-associated complex with STN1 (OBFC1; MIM 613128) and CTC1 (C17ORF68; MIM 613129) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,829,341 (GRCm39) T1373S probably damaging Het
Bbox1 A T 2: 110,098,577 (GRCm39) N333K probably benign Het
Bcl11b T A 12: 107,969,402 (GRCm39) M1L probably benign Het
C1s2 T A 6: 124,609,087 (GRCm39) I157F probably damaging Het
Casp1 T A 9: 5,306,710 (GRCm39) M384K probably damaging Het
Chpt1 A G 10: 88,316,688 (GRCm39) S257P probably damaging Het
Dennd4a G A 9: 64,795,869 (GRCm39) G731D probably benign Het
Dlk2 A T 17: 46,609,609 (GRCm39) S21C probably benign Het
Ell2 T C 13: 75,918,854 (GRCm39) L620P probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fip1l1 T C 5: 74,752,435 (GRCm39) V414A probably benign Het
Fmo1 T A 1: 162,687,251 (GRCm39) probably benign Het
Fyb2 A G 4: 104,802,443 (GRCm39) N115S probably benign Het
Gdi2 A G 13: 3,614,611 (GRCm39) T319A probably benign Het
Hecw1 A G 13: 14,438,668 (GRCm39) V905A probably damaging Het
Ireb2 T A 9: 54,803,779 (GRCm39) V490D probably benign Het
Itprid2 G T 2: 79,488,454 (GRCm39) V846F possibly damaging Het
Lbr A G 1: 181,649,076 (GRCm39) S348P probably damaging Het
Loxhd1 T A 18: 77,409,330 (GRCm39) D191E possibly damaging Het
Mlip A T 9: 77,137,325 (GRCm39) D527E probably benign Het
Myom2 A G 8: 15,167,679 (GRCm39) Y1088C probably damaging Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Nckap5 G T 1: 125,954,270 (GRCm39) Q761K probably benign Het
Neb A T 2: 52,133,854 (GRCm39) D3376E probably damaging Het
Nek10 A G 14: 15,006,693 (GRCm38) *1116W probably null Het
Or2t43 T C 11: 58,458,085 (GRCm39) I29V probably benign Het
Or52d3 T C 7: 104,229,149 (GRCm39) S99P probably damaging Het
Or5p1 A T 7: 107,916,386 (GRCm39) H95L probably benign Het
Pak2 A T 16: 31,871,014 (GRCm39) I56K probably benign Het
Pgm5 T C 19: 24,686,629 (GRCm39) Y526C probably damaging Het
Phc2 T A 4: 128,641,820 (GRCm39) L714H probably damaging Het
Phf13 A T 4: 152,076,232 (GRCm39) D223E probably damaging Het
Pkd1l2 T C 8: 117,807,525 (GRCm39) D171G probably benign Het
Psmd6 GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC 14: 14,119,882 (GRCm38) probably null Het
Rbm6 A T 9: 107,668,949 (GRCm39) probably null Het
Scn10a A G 9: 119,495,466 (GRCm39) M352T probably damaging Het
Sh3d19 G A 3: 86,022,213 (GRCm39) V548I possibly damaging Het
Slc13a4 T A 6: 35,256,398 (GRCm39) I321F possibly damaging Het
Spata9 T C 13: 76,125,771 (GRCm39) S85P possibly damaging Het
Speer4a2 G T 5: 26,290,764 (GRCm39) H136N possibly damaging Het
Ssb G A 2: 69,697,634 (GRCm39) A122T probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tex10 A C 4: 48,467,725 (GRCm39) V358G probably damaging Het
Tmprss11c A T 5: 86,387,332 (GRCm39) H195Q probably benign Het
Tor4a A G 2: 25,085,810 (GRCm39) V31A possibly damaging Het
Trim29 G A 9: 43,222,788 (GRCm39) A206T probably damaging Het
Trim71 A C 9: 114,391,893 (GRCm39) V98G probably benign Het
Trpm6 C G 19: 18,809,945 (GRCm39) L1114V probably benign Het
Usp1 A G 4: 98,822,489 (GRCm39) D601G possibly damaging Het
Vmn2r18 T A 5: 151,485,194 (GRCm39) I767F probably damaging Het
Other mutations in Ten1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0762:Ten1 UTSW 11 116,107,510 (GRCm39) splice site probably benign
R3051:Ten1 UTSW 11 116,096,556 (GRCm39) missense possibly damaging 0.71
R3977:Ten1 UTSW 11 116,107,771 (GRCm39) splice site probably null
R4466:Ten1 UTSW 11 116,095,823 (GRCm39) intron probably benign
R4863:Ten1 UTSW 11 116,109,057 (GRCm39) missense probably benign 0.02
R4931:Ten1 UTSW 11 116,096,555 (GRCm39) missense probably benign 0.32
R5870:Ten1 UTSW 11 116,105,751 (GRCm39) missense possibly damaging 0.71
R9101:Ten1 UTSW 11 116,096,562 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TTGAAAGCTATCCTATCCGTATGGTAG -3'
(R):5'- TCTCAATTTACAGGAGCCAGGG -3'

Sequencing Primer
(F):5'- AGAACCATACGCTGTGTTCG -3'
(R):5'- TTTACAGGAGCCAGGGTGAAGC -3'
Posted On 2019-10-24