Incidental Mutation 'R0369:Terf1'
ID 30352
Institutional Source Beutler Lab
Gene Symbol Terf1
Ensembl Gene ENSMUSG00000025925
Gene Name telomeric repeat binding factor 1
Synonyms Pin2, Trbf1, Trf1
MMRRC Submission 038575-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0369 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 15875870-15914276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15889207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 212 (H212R)
Ref Sequence ENSEMBL: ENSMUSP00000140744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027057] [ENSMUST00000188371]
AlphaFold P70371
Predicted Effect probably damaging
Transcript: ENSMUST00000027057
AA Change: H183R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027057
Gene: ENSMUSG00000025925
AA Change: H183R

DomainStartEndE-ValueType
Pfam:TRF 61 257 2.3e-28 PFAM
SANT 366 417 1.9e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186565
Predicted Effect probably damaging
Transcript: ENSMUST00000188371
AA Change: H212R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140744
Gene: ENSMUSG00000025925
AA Change: H212R

DomainStartEndE-ValueType
Pfam:TRF 61 258 3e-30 PFAM
SANT 366 417 1.9e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188684
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 87.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that binds to repeats in telomeres to form a nucleoprotein complex that protects against the degradation of chromosomal ends. The encoded protein regulates the length of telomeres and is an integral structural component of the functional telomere. This protein is thought to play a role in spindle formation in mitosis. Mutations in this gene are associated with bone marrow failure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality and die sometime before E7.5 [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik G A 9: 114,129,077 (GRCm39) noncoding transcript Het
Aadacl2 T A 3: 59,932,143 (GRCm39) Y219* probably null Het
Adamts13 C A 2: 26,895,198 (GRCm39) D1096E probably benign Het
Adamts16 T G 13: 70,927,671 (GRCm39) K523Q possibly damaging Het
Adcy2 A G 13: 68,820,019 (GRCm39) F740S probably benign Het
Carmil1 T A 13: 24,266,003 (GRCm39) N253I probably damaging Het
Ccdc97 T C 7: 25,413,833 (GRCm39) T283A probably damaging Het
Cmpk2 G T 12: 26,527,150 (GRCm39) E380* probably null Het
Csmd3 A G 15: 47,833,543 (GRCm39) I911T probably damaging Het
Cyp2c39 T C 19: 39,502,079 (GRCm39) L156P probably damaging Het
D7Ertd443e T C 7: 133,899,866 (GRCm39) I499V possibly damaging Het
Dhx58 A C 11: 100,592,374 (GRCm39) probably null Het
Dip2a C T 10: 76,134,621 (GRCm39) G390S probably damaging Het
Dusp10 A G 1: 183,801,253 (GRCm39) D340G probably damaging Het
Epha1 A T 6: 42,342,407 (GRCm39) C314S probably damaging Het
Exph5 A T 9: 53,284,602 (GRCm39) H561L probably benign Het
Fbxw26 A G 9: 109,552,780 (GRCm39) probably null Het
Foxc1 A C 13: 31,991,495 (GRCm39) N102T probably damaging Het
Fsip2 T C 2: 82,814,908 (GRCm39) I3547T probably benign Het
Gm5464 G T 14: 67,106,774 (GRCm39) probably benign Het
Gnptab C T 10: 88,269,456 (GRCm39) R720C possibly damaging Het
Greb1l T C 18: 10,469,375 (GRCm39) V130A possibly damaging Het
Hmg20a A T 9: 56,394,934 (GRCm39) D216V probably damaging Het
Hnrnpul2 C A 19: 8,801,777 (GRCm39) D328E probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ift172 T C 5: 31,410,985 (GRCm39) Y1691C probably damaging Het
Kremen2 T C 17: 23,961,784 (GRCm39) D241G probably benign Het
Meis2 T C 2: 115,893,897 (GRCm39) D5G possibly damaging Het
Mrps5 G A 2: 127,433,749 (GRCm39) R46K probably benign Het
Myh14 C T 7: 44,310,374 (GRCm39) V170M probably damaging Het
Nexn T C 3: 151,953,894 (GRCm39) N123D probably benign Het
Or11g26 T A 14: 50,753,282 (GRCm39) M207K probably benign Het
Or4d11 A T 19: 12,013,765 (GRCm39) S114T probably benign Het
Or51l14 T A 7: 103,101,423 (GRCm39) I293N probably damaging Het
Pacs1 C T 19: 5,191,726 (GRCm39) V704M probably damaging Het
Papolg A G 11: 23,822,425 (GRCm39) probably null Het
Pdlim3 T C 8: 46,370,543 (GRCm39) V281A probably benign Het
Plpp4 T G 7: 128,925,190 (GRCm39) F142V probably damaging Het
Prb1a G A 6: 132,184,620 (GRCm39) Q338* probably null Het
Psg26 G T 7: 18,216,481 (GRCm39) Y119* probably null Het
Ptger4 A G 15: 5,272,491 (GRCm39) C68R probably benign Het
Ptpre T A 7: 135,272,444 (GRCm39) I399N probably damaging Het
Ripply2 A G 9: 86,898,372 (GRCm39) Y72C probably damaging Het
Rp1l1 T A 14: 64,266,837 (GRCm39) S808T possibly damaging Het
Scn5a G A 9: 119,362,838 (GRCm39) T594I probably damaging Het
Sf3b1 T C 1: 55,037,267 (GRCm39) D883G probably benign Het
Skint5 A T 4: 113,369,220 (GRCm39) probably null Het
Tmco5 T G 2: 116,711,269 (GRCm39) probably null Het
Tnfaip3 A T 10: 18,882,660 (GRCm39) Y252* probably null Het
Tnrc6a T A 7: 122,770,083 (GRCm39) N624K probably damaging Het
Top3a C A 11: 60,633,615 (GRCm39) R827L probably damaging Het
Unc79 G A 12: 103,055,031 (GRCm39) probably null Het
Usp20 T C 2: 30,901,116 (GRCm39) S422P probably benign Het
Utrn T C 10: 12,509,766 (GRCm39) E2402G probably benign Het
Wdr3 G A 3: 100,063,734 (GRCm39) Q181* probably null Het
Zfp536 T C 7: 37,267,373 (GRCm39) E681G probably damaging Het
Zfp91 C T 19: 12,747,438 (GRCm39) V562I possibly damaging Het
Zfp942 A T 17: 22,148,017 (GRCm39) I204N probably benign Het
Other mutations in Terf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02302:Terf1 APN 1 15,903,626 (GRCm39) missense probably damaging 1.00
R0358:Terf1 UTSW 1 15,876,062 (GRCm39) missense possibly damaging 0.84
R1471:Terf1 UTSW 1 15,913,194 (GRCm39) missense probably damaging 1.00
R1853:Terf1 UTSW 1 15,889,162 (GRCm39) nonsense probably null
R1942:Terf1 UTSW 1 15,876,038 (GRCm39) missense probably benign 0.34
R2029:Terf1 UTSW 1 15,876,170 (GRCm39) missense possibly damaging 0.82
R2132:Terf1 UTSW 1 15,875,909 (GRCm39) missense probably benign 0.02
R2391:Terf1 UTSW 1 15,875,963 (GRCm39) nonsense probably null
R4255:Terf1 UTSW 1 15,875,903 (GRCm39) start codon destroyed probably null 1.00
R4685:Terf1 UTSW 1 15,889,185 (GRCm39) missense possibly damaging 0.80
R5291:Terf1 UTSW 1 15,889,310 (GRCm39) splice site probably null
R5310:Terf1 UTSW 1 15,875,909 (GRCm39) missense probably damaging 0.97
R5338:Terf1 UTSW 1 15,901,787 (GRCm39) missense possibly damaging 0.48
R5661:Terf1 UTSW 1 15,889,888 (GRCm39) missense probably damaging 1.00
R6216:Terf1 UTSW 1 15,889,221 (GRCm39) missense probably benign 0.09
R6719:Terf1 UTSW 1 15,908,460 (GRCm39) missense probably benign 0.01
R7126:Terf1 UTSW 1 15,883,363 (GRCm39) missense probably benign 0.04
R7917:Terf1 UTSW 1 15,889,300 (GRCm39) missense probably damaging 1.00
R9217:Terf1 UTSW 1 15,883,295 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCTGAAACAAAATGTCGGGGCATTA -3'
(R):5'- TGGAACGCCATTACTATTGCTTGGTT -3'

Sequencing Primer
(F):5'- TGTCGGGGCATTAAAGAAGAC -3'
(R):5'- gaatgtgatgccccctcc -3'
Posted On 2013-04-24