Incidental Mutation 'R4572:Terf2ip'
ID 342198
Institutional Source Beutler Lab
Gene Symbol Terf2ip
Ensembl Gene ENSMUSG00000033430
Gene Name telomeric repeat binding factor 2, interacting protein
Synonyms Rap1
MMRRC Submission 041796-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4572 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 112738030-112747160 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112738649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 179 (D179G)
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: D179G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052170
Gene: ENSMUSG00000033430
AA Change: D179G

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
Meta Mutation Damage Score 0.5709 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (71/71)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,107,374 (GRCm39) I747N probably benign Het
Adamtsl2 A G 2: 26,973,268 (GRCm39) Y97C probably damaging Het
Alox12e A G 11: 70,212,007 (GRCm39) probably benign Het
Alpk2 A T 18: 65,414,075 (GRCm39) S2014T probably damaging Het
Ankrd36 A T 11: 5,639,340 (GRCm39) probably null Het
Apobec1 T C 6: 122,558,356 (GRCm39) D133G probably damaging Het
Arfgef1 A T 1: 10,283,366 (GRCm39) I181N probably damaging Het
Cilp2 A G 8: 70,335,060 (GRCm39) V646A probably damaging Het
Clasrp A G 7: 19,318,389 (GRCm39) probably null Het
Cnot2 T C 10: 116,330,751 (GRCm39) T423A probably benign Het
Crtap T C 9: 114,213,874 (GRCm39) D227G probably benign Het
Cyp17a1 A G 19: 46,658,990 (GRCm39) F217S probably damaging Het
Ddx60 A G 8: 62,440,455 (GRCm39) M1036V probably damaging Het
Dnah11 A T 12: 117,973,860 (GRCm39) I2818N probably benign Het
Dok6 T A 18: 89,492,071 (GRCm39) I169F possibly damaging Het
Duox2 T A 2: 122,112,207 (GRCm39) R1326S probably benign Het
Epha10 A G 4: 124,796,361 (GRCm39) T357A unknown Het
Ephb2 A C 4: 136,383,251 (GRCm39) F942C probably damaging Het
Fscn3 T A 6: 28,430,634 (GRCm39) probably null Het
Gabrb2 A G 11: 42,484,744 (GRCm39) N267S possibly damaging Het
Gabrr3 A T 16: 59,282,001 (GRCm39) Y452F probably benign Het
Gen1 A G 12: 11,292,419 (GRCm39) S457P probably damaging Het
Gm1993 C T X: 25,515,656 (GRCm39) R77H probably damaging Het
Gm5592 G A 7: 40,865,583 (GRCm39) probably benign Het
Hmbox1 A G 14: 65,140,682 (GRCm39) probably null Het
Hus1 A T 11: 8,957,617 (GRCm39) probably null Het
Ino80 G A 2: 119,232,839 (GRCm39) R1160W probably damaging Het
Kalrn A T 16: 34,212,412 (GRCm39) F27L probably damaging Het
Kri1 A T 9: 21,191,680 (GRCm39) F187L probably damaging Het
Lekr1 A T 3: 65,691,336 (GRCm39) noncoding transcript Het
Mapk15 T C 15: 75,870,599 (GRCm39) probably benign Het
Mrgpre G A 7: 143,334,841 (GRCm39) L221F probably damaging Het
Mrpl50 A T 4: 49,514,399 (GRCm39) S91T possibly damaging Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Mup15 A G 4: 61,356,454 (GRCm39) probably null Het
Ncapd3 A G 9: 27,005,911 (GRCm39) D1469G probably damaging Het
Nlrp9b G A 7: 19,760,606 (GRCm39) probably null Het
Npy6r A T 18: 44,408,984 (GRCm39) Y135F probably benign Het
Or7e170 A C 9: 19,795,275 (GRCm39) C109G probably benign Het
Phf14 G A 6: 12,006,823 (GRCm39) R825Q probably damaging Het
Pigg A G 5: 108,480,751 (GRCm39) M379V probably benign Het
Plppr3 T A 10: 79,701,897 (GRCm39) Q315L probably benign Het
Plxnd1 C A 6: 115,932,717 (GRCm39) C1921F probably damaging Het
Ptger4 A C 15: 5,272,614 (GRCm39) S2A probably benign Het
Qrfprl A T 6: 65,431,975 (GRCm39) M293L probably benign Het
Rab4a A T 8: 124,560,799 (GRCm39) D196V probably benign Het
Rbck1 G A 2: 152,160,653 (GRCm39) Q428* probably null Het
Rgs14 A T 13: 55,527,875 (GRCm39) N266I probably damaging Het
Serpina1c A T 12: 103,864,967 (GRCm39) probably benign Het
Sesn3 G A 9: 14,232,516 (GRCm39) R263H probably benign Het
Slfn1 A T 11: 83,012,289 (GRCm39) D135V probably benign Het
Spata17 T C 1: 186,926,193 (GRCm39) K46E possibly damaging Het
Srcin1 A C 11: 97,425,760 (GRCm39) D432E probably damaging Het
Stxbp5 T C 10: 9,713,888 (GRCm39) E217G probably damaging Het
Tll1 A G 8: 64,509,343 (GRCm39) F556L possibly damaging Het
Tmed4 CTCTTTCT CTCT 11: 6,224,461 (GRCm39) probably null Het
Trappc9 G T 15: 72,808,916 (GRCm39) Q537K possibly damaging Het
Trim30a G T 7: 104,060,395 (GRCm39) C460* probably null Het
Trim35 T C 14: 66,545,322 (GRCm39) Y298H probably damaging Het
Ugt3a1 T A 15: 9,306,479 (GRCm39) H209Q probably benign Het
Ulk4 T C 9: 121,021,830 (GRCm39) K627R probably damaging Het
Wnk1 T C 6: 119,928,872 (GRCm39) T1319A possibly damaging Het
Wnt9b G A 11: 103,622,981 (GRCm39) R141C probably damaging Het
Zfp735 A G 11: 73,580,611 (GRCm39) M37V probably benign Het
Zmym1 A T 4: 126,944,628 (GRCm39) N186K probably benign 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
R6172:Terf2ip UTSW 8 112,744,649 (GRCm39) missense probably damaging 1.00
R6266:Terf2ip UTSW 8 112,738,547 (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'- GCTCGCTGACAGGCAGG -3'
Posted On 2015-09-24