Incidental Mutation 'R2862:Tinf2'
ID 252973
Institutional Source Beutler Lab
Gene Symbol Tinf2
Ensembl Gene ENSMUSG00000007589
Gene Name Terf1 (TRF1)-interacting nuclear factor 2
Synonyms D14Wsu146e, TIN2
MMRRC Submission 040452-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2862 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 55912146-55919277 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55918088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 127 (D127G)
Ref Sequence ENSEMBL: ENSMUSP00000153900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002397] [ENSMUST00000007733] [ENSMUST00000226314] [ENSMUST00000227873] [ENSMUST00000227842] [ENSMUST00000227914]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000002397
SMART Domains Protein: ENSMUSP00000002397
Gene: ENSMUSG00000002326

DomainStartEndE-ValueType
IMPDH 8 347 7.5e-147 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000007733
AA Change: D185G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007733
Gene: ENSMUSG00000007589
AA Change: D185G

DomainStartEndE-ValueType
Pfam:TINF2_N 20 159 1.8e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157777
Predicted Effect probably damaging
Transcript: ENSMUST00000226314
AA Change: D149G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226641
Predicted Effect probably benign
Transcript: ENSMUST00000226819
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227106
Predicted Effect probably damaging
Transcript: ENSMUST00000227873
AA Change: D127G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000227842
AA Change: D185G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227996
Predicted Effect probably benign
Transcript: ENSMUST00000227914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228264
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228683
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]
PHENOTYPE: Targeted disruption of this gene results in embryonic lethality prior to E7.5 through a mechanism that is independent of telomerase function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,259,057 (GRCm39) S2928G probably damaging Het
Abcd1 T A X: 72,781,064 (GRCm39) L713H probably damaging Het
Actg1 T C 11: 120,237,627 (GRCm39) I52V probably benign Het
Ahi1 T A 10: 20,857,307 (GRCm39) V634E probably damaging Het
Ang G T 14: 51,339,275 (GRCm39) D139Y probably damaging Het
Apoe T C 7: 19,431,479 (GRCm39) Y46C probably damaging Het
Aqr A T 2: 113,967,398 (GRCm39) V539D probably damaging Het
Btg3 A G 16: 78,161,868 (GRCm39) V114A probably damaging Het
Cap1 A T 4: 122,758,518 (GRCm39) S221T probably benign Het
Ccdc121 G A 5: 31,643,255 (GRCm39) probably benign Het
Cdca2 T C 14: 67,935,539 (GRCm39) E392G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col22a1 A G 15: 71,687,792 (GRCm39) probably null Het
Cyp2c38 G A 19: 39,449,138 (GRCm39) R72W probably benign Het
Dnah1 C T 14: 31,006,719 (GRCm39) G2199S probably benign Het
Dnhd1 A G 7: 105,361,766 (GRCm39) E3608G probably benign Het
Ears2 A T 7: 121,662,163 (GRCm39) L95Q probably damaging Het
F5 A T 1: 164,012,533 (GRCm39) K482N probably damaging Het
Gata5 C T 2: 179,976,129 (GRCm39) G12S possibly damaging Het
Gm11938 C A 11: 99,493,972 (GRCm39) R41L probably damaging Het
Grap2 A T 15: 80,532,165 (GRCm39) Q260L probably damaging Het
Greb1 A G 12: 16,761,746 (GRCm39) S545P probably benign Het
Iglc1 T C 16: 18,880,660 (GRCm39) probably benign Het
Il18r1 T C 1: 40,537,717 (GRCm39) V494A possibly damaging Het
Kdf1 G A 4: 133,255,852 (GRCm39) E190K probably damaging Het
Lama2 G A 10: 27,298,608 (GRCm39) Q163* probably null Het
Lama3 G T 18: 12,586,807 (GRCm39) L723F probably damaging Het
Lamp5 A T 2: 135,900,866 (GRCm39) H22L probably benign Het
Maged1 G A X: 93,582,530 (GRCm39) P366S probably damaging Het
Med14 A G X: 12,585,936 (GRCm39) I521T probably benign Het
Mia2 A G 12: 59,201,196 (GRCm39) K841E probably damaging Het
Mrgbp G A 2: 180,225,203 (GRCm39) R53Q possibly damaging Het
Mrps18b G A 17: 36,221,746 (GRCm39) S101L probably benign Het
Nmnat2 G A 1: 152,988,171 (GRCm39) V267I probably benign Het
Noc2l A G 4: 156,321,907 (GRCm39) D102G probably benign Het
Ntn1 T C 11: 68,276,690 (GRCm39) E86G probably benign Het
Opn4 A G 14: 34,315,785 (GRCm39) probably null Het
Or2d2b T A 7: 106,705,675 (GRCm39) H131L probably benign Het
Or4c109 A T 2: 88,817,664 (GRCm39) I294K probably benign Het
Or52n1 A G 7: 104,383,425 (GRCm39) F49L probably benign Het
Or6k6 A G 1: 173,945,298 (GRCm39) Y95H probably damaging Het
Pate3 T A 9: 35,559,415 (GRCm39) M1L possibly damaging Het
Pex2 A G 3: 5,626,240 (GRCm39) Y190H probably damaging Het
Pkhd1l1 A C 15: 44,404,267 (GRCm39) T2299P probably damaging Het
Ppp6r3 A C 19: 3,571,782 (GRCm39) S122R possibly damaging Het
Pwwp3b G A X: 138,137,429 (GRCm39) G656S possibly damaging Het
Rnf113a1 A G X: 36,455,736 (GRCm39) E231G probably damaging Het
Rnf41 T C 10: 128,274,023 (GRCm39) L225P possibly damaging Het
Rreb1 G C 13: 38,116,429 (GRCm39) A1263P probably benign Het
Rxfp1 A G 3: 79,589,778 (GRCm39) V121A possibly damaging Het
Slc35e4 A T 11: 3,862,796 (GRCm39) V131D probably damaging Het
Smyd4 T A 11: 75,280,962 (GRCm39) M145K probably benign Het
Snx13 T A 12: 35,188,116 (GRCm39) I798N probably benign Het
Srgap3 A T 6: 112,699,933 (GRCm39) F1015Y probably damaging Het
Synj1 T C 16: 90,766,217 (GRCm39) Y567C probably damaging Het
Tbc1d8 G A 1: 39,441,777 (GRCm39) Q272* probably null Het
Ube2v1 G A 2: 167,459,885 (GRCm39) P39L probably damaging Het
Vegfd A G X: 163,168,879 (GRCm39) E57G probably damaging Het
Vmn2r72 A T 7: 85,400,044 (GRCm39) I335N probably damaging Het
Zc3h6 A G 2: 128,857,380 (GRCm39) H633R probably benign Het
Other mutations in Tinf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00782:Tinf2 APN 14 55,917,921 (GRCm39) splice site probably null
IGL01879:Tinf2 APN 14 55,918,363 (GRCm39) unclassified probably benign
IGL03123:Tinf2 APN 14 55,918,346 (GRCm39) missense probably damaging 0.99
R0815:Tinf2 UTSW 14 55,917,566 (GRCm39) missense probably benign 0.01
R0863:Tinf2 UTSW 14 55,917,566 (GRCm39) missense probably benign 0.01
R5575:Tinf2 UTSW 14 55,917,631 (GRCm39) missense probably benign 0.23
R6833:Tinf2 UTSW 14 55,919,037 (GRCm39) start codon destroyed probably null 1.00
R7389:Tinf2 UTSW 14 55,918,167 (GRCm39) splice site probably null
R8246:Tinf2 UTSW 14 55,917,042 (GRCm39) missense probably damaging 0.97
R8368:Tinf2 UTSW 14 55,917,030 (GRCm39) missense probably damaging 1.00
R9003:Tinf2 UTSW 14 55,917,859 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- CCATGGGCTCTATCAGATTCC -3'
(R):5'- CTCCAGTCAGAGCACAAGAG -3'

Sequencing Primer
(F):5'- TCAGATTCCCTGAGCCAGAAGTAG -3'
(R):5'- TCAGAGCACAAGAGGTTGTTG -3'
Posted On 2014-12-04