Incidental Mutation 'R6266:Terf2ip'
ID 507012
Institutional Source Beutler Lab
Gene Symbol Terf2ip
Ensembl Gene ENSMUSG00000033430
Gene Name telomeric repeat binding factor 2, interacting protein
Synonyms Rap1
MMRRC Submission 044378-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6266 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 112738030-112747160 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 112738547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 145 (V145E)
Ref Sequence ENSEMBL: ENSMUSP00000052170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034426] [ENSMUST00000052138] [ENSMUST00000071732] [ENSMUST00000093120] [ENSMUST00000164470] [ENSMUST00000211990]
AlphaFold Q91VL8
Predicted Effect probably benign
Transcript: ENSMUST00000034426
SMART Domains Protein: ENSMUSP00000034426
Gene: ENSMUSG00000031948

DomainStartEndE-ValueType
coiled coil region 14 53 N/A INTRINSIC
Pfam:tRNA_anti-codon 124 204 2.8e-15 PFAM
Pfam:tRNA-synt_2 220 573 4.9e-93 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000052138
AA Change: V145E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052170
Gene: ENSMUSG00000033430
AA Change: V145E

DomainStartEndE-ValueType
Pfam:BRCT_2 17 100 1.4e-23 PFAM
Pfam:Myb_DNA-bind_2 129 193 3.9e-35 PFAM
low complexity region 279 298 N/A INTRINSIC
Pfam:Rap1_C 315 392 2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071732
SMART Domains Protein: ENSMUSP00000128163
Gene: ENSMUSG00000092086

DomainStartEndE-ValueType
RRM 14 86 3.1e-26 SMART
RRM 105 177 8.1e-24 SMART
low complexity region 192 310 N/A INTRINSIC
low complexity region 321 350 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093120
SMART Domains Protein: ENSMUSP00000090808
Gene: ENSMUSG00000031948

DomainStartEndE-ValueType
coiled coil region 44 82 N/A INTRINSIC
Pfam:tRNA_anti-codon 153 233 3.6e-17 PFAM
Pfam:tRNA-synt_2 249 601 1.1e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164470
SMART Domains Protein: ENSMUSP00000126268
Gene: ENSMUSG00000031948

DomainStartEndE-ValueType
coiled coil region 44 82 N/A INTRINSIC
Pfam:tRNA_anti-codon 153 233 1.6e-16 PFAM
Pfam:tRNA-synt_2 249 602 1.8e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211978
Predicted Effect probably benign
Transcript: ENSMUST00000211990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212732
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are fertile. Mice homozygous for a gene trapped allele die prior to E6.5 while heterozygous mice are resistant to LPS-induced mortality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T C 13: 4,320,206 (GRCm39) T295A probably benign Het
Aldh2 C A 5: 121,706,997 (GRCm39) V217L probably damaging Het
Arap3 G A 18: 38,123,844 (GRCm39) R392C probably damaging Het
Aurkaip1 T G 4: 155,916,977 (GRCm39) L75R probably damaging Het
Blm C A 7: 80,149,688 (GRCm39) K640N probably benign Het
Brap A T 5: 121,823,328 (GRCm39) T487S probably benign Het
Ccser2 G A 14: 36,601,632 (GRCm39) P276L probably damaging Het
Cdc42bpg A G 19: 6,361,503 (GRCm39) E343G probably damaging Het
Cecr2 A G 6: 120,738,647 (GRCm39) S1097G probably benign Het
D7Ertd443e A T 7: 133,951,514 (GRCm39) V53D probably damaging Het
Ddx3y G A Y: 1,266,635 (GRCm39) T274I probably damaging Homo
Dnah5 T A 15: 28,335,773 (GRCm39) F2246L possibly damaging Het
Dock3 T A 9: 106,841,952 (GRCm39) H959L probably damaging Het
Dpy19l1 A G 9: 24,350,442 (GRCm39) S406P probably damaging Het
Efcab8 T C 2: 153,625,688 (GRCm39) L116P probably damaging Het
Efnb2 T C 8: 8,710,524 (GRCm39) I31V probably benign Het
Fbxl12 A T 9: 20,549,911 (GRCm39) L271Q probably damaging Het
Fmn1 T A 2: 113,426,683 (GRCm39) N1133K probably damaging Het
Frmpd2 T C 14: 33,287,864 (GRCm39) S1219P probably benign Het
Gm7298 A T 6: 121,759,663 (GRCm39) R1187S probably damaging Het
H6pd T C 4: 150,080,414 (GRCm39) I136V probably benign Het
Hyal2 A G 9: 107,447,914 (GRCm39) N189S probably benign Het
Jmjd1c C T 10: 67,085,439 (GRCm39) P2410S probably damaging Het
Larp1 A G 11: 57,933,089 (GRCm39) D231G probably damaging Het
Lilra5 T A 7: 4,244,927 (GRCm39) S233T possibly damaging Het
Lrrc43 T C 5: 123,641,340 (GRCm39) F508S probably damaging Het
Marchf4 T C 1: 72,491,647 (GRCm39) Y208C probably damaging Het
Mtarc2 T C 1: 184,566,140 (GRCm39) R85G probably damaging Het
Nr1h2 A T 7: 44,201,476 (GRCm39) C45* probably null Het
Or10ag2 T A 2: 87,249,350 (GRCm39) S319R probably benign Het
Or2n1e A G 17: 38,586,039 (GRCm39) I126V probably benign Het
Ppp2r5d G T 17: 46,996,629 (GRCm39) probably null Het
Prpf40a A T 2: 53,046,639 (GRCm39) S324T probably benign Het
Psmb7 T C 2: 38,530,199 (GRCm39) D94G probably damaging Het
Psmd11 A G 11: 80,336,767 (GRCm39) T140A probably benign Het
Pygm T C 19: 6,448,169 (GRCm39) I737T probably damaging Het
Rbp3 G A 14: 33,676,418 (GRCm39) R122H probably benign Het
Relch T G 1: 105,659,007 (GRCm39) probably null Het
Rrp8 T C 7: 105,385,596 (GRCm39) E3G probably damaging Het
Sacm1l T C 9: 123,371,485 (GRCm39) S37P probably damaging Het
Slc12a3 A G 8: 95,085,099 (GRCm39) R939G possibly damaging Het
Slc20a1 T C 2: 129,051,814 (GRCm39) S608P possibly damaging Het
Sntg1 T C 1: 8,624,953 (GRCm39) Q281R possibly damaging Het
Spata31d1e C T 13: 59,890,126 (GRCm39) V147I probably benign Het
Tefm A G 11: 80,028,814 (GRCm39) L194P probably damaging Het
Tmem231 T A 8: 112,641,897 (GRCm39) E219V probably null Het
Tmx3 T A 18: 90,555,334 (GRCm39) probably null Het
Tns3 G A 11: 8,442,987 (GRCm39) P459S probably damaging Het
Trav13d-1 T A 14: 53,089,220 (GRCm39) S76R probably benign Het
Trp63 A G 16: 25,681,210 (GRCm39) N254S probably damaging Het
Tsen34 A G 7: 3,696,984 (GRCm39) probably benign Het
Unc13d A G 11: 115,959,064 (GRCm39) V701A probably damaging Het
Usp36 A G 11: 118,159,411 (GRCm39) S513P probably damaging Het
Uspl1 T A 5: 149,141,176 (GRCm39) S392T probably damaging Het
Vmn2r102 T A 17: 19,899,007 (GRCm39) C450S probably benign Het
Zfp128 T C 7: 12,624,897 (GRCm39) Y422H possibly damaging Het
Zkscan7 C T 9: 122,724,299 (GRCm39) Q423* probably null Het
Other mutations in Terf2ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01901:Terf2ip APN 8 112,738,700 (GRCm39) missense probably benign
R0244:Terf2ip UTSW 8 112,744,796 (GRCm39) missense possibly damaging 0.73
R0544:Terf2ip UTSW 8 112,741,974 (GRCm39) missense possibly damaging 0.88
R0617:Terf2ip UTSW 8 112,738,127 (GRCm39) missense probably benign 0.10
R0976:Terf2ip UTSW 8 112,738,349 (GRCm39) missense probably damaging 0.98
R1709:Terf2ip UTSW 8 112,738,238 (GRCm39) frame shift probably null
R2078:Terf2ip UTSW 8 112,742,035 (GRCm39) missense probably benign 0.02
R2134:Terf2ip UTSW 8 112,738,271 (GRCm39) missense possibly damaging 0.71
R4572:Terf2ip UTSW 8 112,738,649 (GRCm39) missense probably damaging 1.00
R6172:Terf2ip UTSW 8 112,744,649 (GRCm39) missense probably damaging 1.00
R6563:Terf2ip UTSW 8 112,744,834 (GRCm39) missense probably damaging 1.00
R7180:Terf2ip UTSW 8 112,738,052 (GRCm39) unclassified probably benign
R7203:Terf2ip UTSW 8 112,744,618 (GRCm39) missense probably benign 0.30
R7222:Terf2ip UTSW 8 112,738,547 (GRCm39) missense possibly damaging 0.64
R7304:Terf2ip UTSW 8 112,738,280 (GRCm39) missense possibly damaging 0.86
R7787:Terf2ip UTSW 8 112,742,087 (GRCm39) missense probably damaging 0.96
R7938:Terf2ip UTSW 8 112,738,717 (GRCm39) missense possibly damaging 0.87
R8089:Terf2ip UTSW 8 112,738,424 (GRCm39) missense probably benign 0.21
R8969:Terf2ip UTSW 8 112,738,370 (GRCm39) missense probably damaging 0.98
R9376:Terf2ip UTSW 8 112,744,528 (GRCm39) missense probably benign 0.01
R9376:Terf2ip UTSW 8 112,738,514 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGGATCGCAACGAGAAGCTG -3'
(R):5'- AAAAGACGCTCGCTGACAG -3'

Sequencing Primer
(F):5'- TGGACCTGGAGGCCTATC -3'
(R):5'- AGCTTCTGGGAGGACGG -3'
Posted On 2018-03-15