Incidental Mutation 'R6172:Terf2ip'
ID 488251
Institutional Source Beutler Lab
Gene Symbol Terf2ip
Ensembl Gene ENSMUSG00000033430
Gene Name telomeric repeat binding factor 2, interacting protein
Synonyms Rap1
MMRRC Submission 044315-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6172 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 112738030-112747160 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 112744649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 322 (D322V)
Ref Sequence ENSEMBL: ENSMUSP00000052170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052138] [ENSMUST00000071732]
AlphaFold Q91VL8
Predicted Effect probably damaging
Transcript: ENSMUST00000052138
AA Change: D322V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052170
Gene: ENSMUSG00000033430
AA Change: D322V

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 noncoding transcript
Transcript: ENSMUST00000212732
Meta Mutation Damage Score 0.4226 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 100% (44/44)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap42 A T 9: 9,148,246 (GRCm39) C108S possibly damaging Het
Bbs2 T C 8: 94,814,039 (GRCm39) E193G probably benign Het
Bpifb2 C A 2: 153,732,332 (GRCm39) H310Q probably benign Het
Cand2 A G 6: 115,768,271 (GRCm39) E472G probably benign Het
Cd81 A G 7: 142,606,691 (GRCm39) probably benign Het
Chd5 A T 4: 152,463,848 (GRCm39) H1476L probably damaging Het
Clpx C A 9: 65,209,161 (GRCm39) S92* probably null Het
Cstf3 T C 2: 104,481,987 (GRCm39) V276A probably damaging Het
Ehd4 G A 2: 119,932,737 (GRCm39) Q230* probably null Het
Erich3 A G 3: 154,469,978 (GRCm39) T4A possibly damaging Het
Erlin2 T G 8: 27,526,123 (GRCm39) probably null Het
Exosc1 C A 19: 41,912,442 (GRCm39) Q148H probably damaging Het
Fbxw27 A T 9: 109,601,337 (GRCm39) V261E probably damaging Het
Flrt2 T A 12: 95,746,305 (GRCm39) N214K probably damaging Het
Foxp1 G A 6: 98,992,471 (GRCm39) Q41* probably null Het
Foxp1 C A 6: 98,992,475 (GRCm39) probably null Het
Frk T C 10: 34,467,961 (GRCm39) L325P probably damaging Het
Gm21698 T C 5: 26,192,371 (GRCm39) I72V probably benign Het
Gm39115 A T 7: 141,689,651 (GRCm39) C41S unknown Het
Hectd1 G A 12: 51,816,065 (GRCm39) P1336S probably damaging Het
Ighv7-1 T C 12: 113,860,183 (GRCm39) S70G probably damaging Het
Itga10 T C 3: 96,554,753 (GRCm39) I78T probably benign Het
Itgb4 A G 11: 115,891,237 (GRCm39) H1218R probably benign Het
Marchf6 A T 15: 31,483,013 (GRCm39) N463K possibly damaging Het
Muc5b A C 7: 141,412,513 (GRCm39) T1820P unknown Het
Nfatc4 A G 14: 56,066,990 (GRCm39) T510A possibly damaging Het
Nwd2 G T 5: 63,964,249 (GRCm39) V1278F probably damaging Het
Or52n2c A C 7: 104,574,503 (GRCm39) M156R probably benign Het
Or7g19 A G 9: 18,856,042 (GRCm39) T33A probably benign Het
P2rx1 G A 11: 72,900,856 (GRCm39) V209M probably damaging Het
Pkn1 T C 8: 84,397,384 (GRCm39) K874R possibly damaging Het
Plec C T 15: 76,056,576 (GRCm39) V4444I probably damaging Het
Ppp1r37 A T 7: 19,266,329 (GRCm39) M479K possibly damaging Het
Prr11 A C 11: 86,994,449 (GRCm39) F66V probably benign Het
Rbbp5 A G 1: 132,424,554 (GRCm39) D268G possibly damaging Het
Rbbp6 T A 7: 122,597,778 (GRCm39) Y734* probably null Het
Rc3h2 GCC GCCC 2: 37,304,745 (GRCm39) probably null Het
Rhou A G 8: 124,387,903 (GRCm39) K212E probably benign Het
Rsph1 G A 17: 31,492,392 (GRCm39) T58I probably benign Het
Serpina3m A G 12: 104,355,486 (GRCm39) N51S probably damaging Het
Shisa6 A T 11: 66,108,832 (GRCm39) D348E probably benign Het
Slc6a5 T A 7: 49,598,081 (GRCm39) Y648* probably null Het
Stag3 A G 5: 138,298,105 (GRCm39) D699G probably benign Het
Vmn1r125 A T 7: 21,006,275 (GRCm39) M58L probably benign Het
Wdr49 T A 3: 75,205,487 (GRCm39) D643V probably damaging 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
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'- TAGGAACTGGTTTCTCTCCTTG -3'
(R):5'- AATCCTCCGAGCAACGTTCTG -3'

Sequencing Primer
(F):5'- TCTAGGTGGATGAGAGCCCTGAC -3'
(R):5'- GAGCTCCAAACTTTTTGACCAGTG -3'
Posted On 2017-10-10