Incidental Mutation 'R5291:Terf1'
ID 405114
Institutional Source Beutler Lab
Gene Symbol Terf1
Ensembl Gene ENSMUSG00000025925
Gene Name telomeric repeat binding factor 1
Synonyms Pin2, Trbf1, Trf1
MMRRC Submission 042874-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5291 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 15875870-15914276 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to G at 15889310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027057] [ENSMUST00000027057] [ENSMUST00000188371]
AlphaFold P70371
Predicted Effect probably null
Transcript: ENSMUST00000027057
SMART Domains Protein: ENSMUSP00000027057
Gene: ENSMUSG00000025925

DomainStartEndE-ValueType
Pfam:TRF 61 257 2.3e-28 PFAM
SANT 366 417 1.9e-15 SMART
Predicted Effect probably null
Transcript: ENSMUST00000027057
SMART Domains Protein: ENSMUSP00000027057
Gene: ENSMUSG00000025925

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 null
Transcript: ENSMUST00000188371
SMART Domains Protein: ENSMUSP00000140744
Gene: ENSMUSG00000025925

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,823,394 (GRCm39) S328G probably damaging Het
Acot5 T G 12: 84,120,293 (GRCm39) L216R probably benign Het
Ankrd6 A G 4: 32,823,446 (GRCm39) L192P probably damaging Het
Atp6v1e1 C A 6: 120,795,294 (GRCm39) probably null Het
Bbs9 T C 9: 22,540,293 (GRCm39) Y358H probably damaging Het
Bend7 G A 2: 4,768,052 (GRCm39) R336Q probably damaging Het
Camk2a A G 18: 61,090,236 (GRCm39) K192R probably damaging Het
Ceacam1 T A 7: 25,171,256 (GRCm39) R223W probably damaging Het
Cntn6 T A 6: 104,703,096 (GRCm39) F173I probably damaging Het
Cntrl A C 2: 35,024,072 (GRCm39) I33L probably damaging Het
Crybg2 T C 4: 133,800,738 (GRCm39) S633P probably benign Het
Cyp2j13 T C 4: 95,956,566 (GRCm39) H181R probably damaging Het
Dlgap1 A G 17: 71,025,205 (GRCm39) S542G probably benign Het
Dnm2 T G 9: 21,390,203 (GRCm39) L402R probably damaging Het
Fndc3b C A 3: 27,697,144 (GRCm39) V23L probably benign Het
Gata4 A C 14: 63,478,048 (GRCm39) F184V probably damaging Het
Gcnt2 A G 13: 41,072,268 (GRCm39) R304G probably damaging Het
Gm10563 TTTC TTTCCTTC 4: 155,698,969 (GRCm39) probably benign Het
Gm26558 G A 2: 70,491,873 (GRCm39) probably benign Het
Grip1 G A 10: 119,922,874 (GRCm39) V1107I probably benign Het
Herpud2 C T 9: 25,036,256 (GRCm39) G135S probably benign Het
Lrp1 A G 10: 127,429,747 (GRCm39) I441T probably damaging Het
Lrp1b T C 2: 40,793,015 (GRCm39) D2553G probably damaging Het
Mkln1 T A 6: 31,467,416 (GRCm39) N43K possibly damaging Het
Or4c12 A T 2: 89,773,780 (GRCm39) Y226* probably null Het
Or5k17 T C 16: 58,746,764 (GRCm39) T57A possibly damaging Het
Paxbp1 C T 16: 90,841,240 (GRCm39) M1I probably null Het
Phip A G 9: 82,827,936 (GRCm39) Y97H probably damaging Het
Plec T A 15: 76,058,211 (GRCm39) I3774F probably damaging Het
Pramel11 G T 4: 143,622,237 (GRCm39) P373T probably damaging Het
Prrc2c C A 1: 162,533,151 (GRCm39) probably benign Het
Prss12 T C 3: 123,299,112 (GRCm39) L628P probably damaging Het
Ptpre G A 7: 135,280,030 (GRCm39) V578I probably benign Het
Qsox2 A T 2: 26,107,710 (GRCm39) L261H probably damaging Het
Rapgef2 A T 3: 78,977,366 (GRCm39) V1327E possibly damaging Het
Rnf216 A G 5: 143,075,967 (GRCm39) S306P probably benign Het
Rtel1 A G 2: 180,993,888 (GRCm39) Q640R possibly damaging Het
Ryr1 T A 7: 28,815,023 (GRCm39) D175V probably benign Het
Scarf1 T C 11: 75,414,900 (GRCm39) S525P probably damaging Het
Senp7 T A 16: 56,006,542 (GRCm39) Y982* probably null Het
Slc35b2 T C 17: 45,877,424 (GRCm39) Y184H probably damaging Het
Sned1 A G 1: 93,223,446 (GRCm39) K1375E possibly damaging Het
Spats2 G T 15: 99,076,422 (GRCm39) A167S probably benign Het
Spen C A 4: 141,215,390 (GRCm39) A481S unknown Het
Spred3 T A 7: 28,867,255 (GRCm39) H47L probably damaging Het
Srsf4 T A 4: 131,613,617 (GRCm39) probably benign Het
Tdrd3 A T 14: 87,743,234 (GRCm39) H394L probably benign Het
Txlnb A T 10: 17,675,144 (GRCm39) D99V possibly damaging Het
Ugt1a7c A T 1: 88,023,231 (GRCm39) N130I possibly damaging Het
Vmn2r50 T A 7: 9,781,752 (GRCm39) D331V probably damaging Het
Vps13d A G 4: 144,789,139 (GRCm39) I744T probably damaging Het
Ythdc1 A G 5: 86,983,547 (GRCm39) D664G probably damaging 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
R4685:Terf1 UTSW 1 15,889,185 (GRCm39) missense possibly damaging 0.80
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 2016-07-22