Incidental Mutation 'R4685:Terf1'
ID 353578
Institutional Source Beutler Lab
Gene Symbol Terf1
Ensembl Gene ENSMUSG00000025925
Gene Name telomeric repeat binding factor 1
Synonyms Pin2, Trbf1, Trf1
MMRRC Submission 041936-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4685 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 15875870-15914276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15889185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 176 (I176V)
Ref Sequence ENSEMBL: ENSMUSP00000027057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027057] [ENSMUST00000188371]
AlphaFold P70371
Predicted Effect possibly damaging
Transcript: ENSMUST00000027057
AA Change: I176V

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027057
Gene: ENSMUSG00000025925
AA Change: I176V

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 possibly damaging
Transcript: ENSMUST00000188371
AA Change: I205V

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140744
Gene: ENSMUSG00000025925
AA Change: I205V

DomainStartEndE-ValueType
Pfam:TRF 61 258 3e-30 PFAM
SANT 366 417 1.9e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188684
Meta Mutation Damage Score 0.0618 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (71/73)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik T C 12: 17,057,185 (GRCm39) D104G probably damaging Het
2810021J22Rik T C 11: 58,771,750 (GRCm39) S411P probably damaging Het
Adcy2 T C 13: 68,876,024 (GRCm39) R493G probably benign Het
Adcy8 A G 15: 64,609,287 (GRCm39) I874T probably benign Het
Ano2 G T 6: 125,957,087 (GRCm39) E619* probably null Het
Apob A G 12: 8,056,456 (GRCm39) K1613R probably benign Het
Arhgef10 T A 8: 15,006,963 (GRCm39) F476Y probably damaging Het
Bmf G A 2: 118,377,283 (GRCm39) A74V probably damaging Het
Cadps T C 14: 12,467,139 (GRCm38) E925G possibly damaging Het
Ccdc162 T C 10: 41,557,682 (GRCm39) D181G possibly damaging Het
Ccdc85c A T 12: 108,173,434 (GRCm39) C387S probably benign Het
Cntnap5a T C 1: 116,374,410 (GRCm39) V974A possibly damaging Het
Cplx3 T A 9: 57,516,483 (GRCm39) I407F probably damaging Het
Dnah7b T C 1: 46,250,488 (GRCm39) F1703S probably damaging Het
Dsg3 C A 18: 20,672,793 (GRCm39) D821E probably benign Het
Ecel1 G T 1: 87,080,668 (GRCm39) probably null Het
Edn1 A T 13: 42,458,729 (GRCm39) probably null Het
Egfr G A 11: 16,808,980 (GRCm39) C58Y probably damaging Het
Fam184a T C 10: 53,574,596 (GRCm39) N282D probably benign Het
Fhit T A 14: 9,870,091 (GRCm38) Q63L probably damaging Het
Gabarapl2 T C 8: 112,669,150 (GRCm39) V36A probably benign Het
Glis1 T C 4: 107,424,842 (GRCm39) V151A probably benign Het
Gm12695 A G 4: 96,650,217 (GRCm39) S210P probably damaging Het
Gpat4 TAGAAGA TAGA 8: 23,672,865 (GRCm39) probably benign Het
H2-M10.4 G A 17: 36,772,688 (GRCm39) A98V probably benign Het
Hhat C A 1: 192,277,362 (GRCm39) G366C probably damaging Het
Hydin C A 8: 111,189,154 (GRCm39) A1186E probably damaging Het
Itgb2 T A 10: 77,385,937 (GRCm39) probably null Het
Kank1 C T 19: 25,387,398 (GRCm39) A329V possibly damaging Het
Kdm4b T A 17: 56,708,675 (GRCm39) S1070T probably benign Het
Kyat1 A G 2: 30,078,277 (GRCm39) Y101H probably damaging Het
Map4k5 T C 12: 69,858,140 (GRCm39) K679R probably benign Het
Mill1 A T 7: 17,989,853 (GRCm39) D45V probably damaging Het
Myo3a T A 2: 22,412,233 (GRCm39) Y743N probably damaging Het
Nox4 C G 7: 86,946,716 (GRCm39) I137M probably benign Het
Odf4 A G 11: 68,813,665 (GRCm39) probably null Het
Ostf1 A T 19: 18,558,652 (GRCm39) D210E probably damaging Het
Paxip1 A T 5: 27,966,675 (GRCm39) probably null Het
Pitrm1 A G 13: 6,606,578 (GRCm39) T211A probably benign Het
Pla2g4f A G 2: 120,135,496 (GRCm39) S393P probably damaging Het
Plppr3 T C 10: 79,703,359 (GRCm39) T42A probably damaging Het
Plxna4 C A 6: 32,142,779 (GRCm39) G1559W probably damaging Het
Ppp1r13l T C 7: 19,109,308 (GRCm39) probably null Het
Prex1 C T 2: 166,480,252 (GRCm39) V163M probably damaging Het
Prl6a1 A G 13: 27,500,307 (GRCm39) T93A probably benign Het
Psg16 T C 7: 16,824,459 (GRCm39) V81A probably benign Het
Rbm33 A T 5: 28,613,280 (GRCm39) probably benign Het
Rest C T 5: 77,423,090 (GRCm39) P298L possibly damaging Het
Rhobtb3 G A 13: 76,027,051 (GRCm39) R441* probably null Het
Rims4 T A 2: 163,706,914 (GRCm39) K155* probably null Het
Rps6kb1 C T 11: 86,410,713 (GRCm39) probably null Het
Ryr2 T C 13: 11,707,532 (GRCm39) D2835G probably damaging Het
Sc5d C T 9: 42,169,946 (GRCm39) V92I probably benign Het
Sell A T 1: 163,893,829 (GRCm39) I175F probably damaging Het
Serpinb6d A G 13: 33,855,211 (GRCm39) D295G probably damaging Het
Sphk1 A G 11: 116,426,106 (GRCm39) D96G probably damaging Het
Spns3 A T 11: 72,428,096 (GRCm39) V228D probably damaging Het
Sspo A G 6: 48,469,828 (GRCm39) S4500G probably damaging Het
Syt9 T A 7: 107,035,678 (GRCm39) C232S possibly damaging Het
Tln2 C T 9: 67,209,854 (GRCm39) A428T probably damaging Het
Tmprss7 T C 16: 45,499,711 (GRCm39) N321S probably benign Het
Tomm40 A G 7: 19,435,761 (GRCm39) I323T probably benign Het
Try5 T A 6: 41,288,233 (GRCm39) Q240L possibly damaging Het
Vmn1r213 A T 13: 23,195,800 (GRCm39) I128L probably benign Het
Vmn2r80 T C 10: 79,030,162 (GRCm39) F663L possibly damaging Het
Znfx1 T A 2: 166,880,950 (GRCm39) Y278F probably damaging Het
Zpbp2 A G 11: 98,442,117 (GRCm39) 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
R0369:Terf1 UTSW 1 15,889,207 (GRCm39) missense probably damaging 1.00
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
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'- CTGAAACAAAATGTCGGGGC -3'
(R):5'- TGATAGATACAATGCTCTCTAGGC -3'

Sequencing Primer
(F):5'- GCATTAAAGAAGACAATACGTGTGTC -3'
(R):5'- GATCAGAGTTTAGTTCCCAGGTCC -3'
Posted On 2015-10-21