Incidental Mutation 'R9003:Tinf2'
ID 685111
Institutional Source Beutler Lab
Gene Symbol Tinf2
Ensembl Gene ENSMUSG00000007589
Gene Name Terf1 (TRF1)-interacting nuclear factor 2
Synonyms D14Wsu146e, TIN2
MMRRC Submission 068833-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9003 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 55912146-55919277 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55917859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 210 (H210R)
Ref Sequence ENSEMBL: ENSMUSP00000007733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002397] [ENSMUST00000007733] [ENSMUST00000226314] [ENSMUST00000227178] [ENSMUST00000227842] [ENSMUST00000227873] [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 benign
Transcript: ENSMUST00000007733
AA Change: H210R

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000007733
Gene: ENSMUSG00000007589
AA Change: H210R

DomainStartEndE-ValueType
Pfam:TINF2_N 20 159 1.8e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226314
AA Change: H174R

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000226819
Predicted Effect probably benign
Transcript: ENSMUST00000227178
Predicted Effect probably benign
Transcript: ENSMUST00000227842
AA Change: H210R

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000227873
Predicted Effect probably benign
Transcript: ENSMUST00000227914
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,850,013 (GRCm39) H917Y possibly damaging Het
Acot4 A G 12: 84,089,969 (GRCm39) K222R possibly damaging Het
Akap12 A G 10: 4,306,744 (GRCm39) S1290G probably benign Het
Arid1a T C 4: 133,411,799 (GRCm39) I1311V unknown Het
Asf1b G T 8: 84,682,530 (GRCm39) E25* probably null Het
Atp10a T A 7: 58,457,203 (GRCm39) W901R probably damaging Het
Aurkc T A 7: 6,999,547 (GRCm39) I18N probably damaging Het
Carmil2 A G 8: 106,423,905 (GRCm39) T1253A probably damaging Het
Ccdc146 T C 5: 21,508,132 (GRCm39) T639A possibly damaging Het
Cdca4 A G 12: 112,785,659 (GRCm39) V23A probably benign Het
Chpt1 A G 10: 88,312,943 (GRCm39) F290L probably damaging Het
Clca3b C T 3: 144,533,072 (GRCm39) W653* probably null Het
Coa8 A G 12: 111,688,189 (GRCm39) *45W probably null Het
Cpb2 A T 14: 75,479,868 (GRCm39) probably benign Het
Cul9 A G 17: 46,836,001 (GRCm39) V1215A possibly damaging Het
Cxxc4 A T 3: 133,945,431 (GRCm39) N4I unknown Het
Eps8l1 G T 7: 4,464,016 (GRCm39) V47F possibly damaging Het
Exoc6 T C 19: 37,587,097 (GRCm39) I537T probably damaging Het
Fbn2 T C 18: 58,176,591 (GRCm39) Y2040C probably damaging Het
Gfm2 T G 13: 97,282,889 (GRCm39) probably benign Het
Jak2 A T 19: 29,254,240 (GRCm39) M187L probably benign Het
Kif5b A G 18: 6,224,047 (GRCm39) V247A probably benign Het
Klhl22 T C 16: 17,589,612 (GRCm39) V91A probably damaging Het
Ldhd T C 8: 112,356,894 (GRCm39) S17G probably benign Het
Madd C A 2: 90,988,359 (GRCm39) E1223* probably null Het
Mecom T C 3: 30,034,639 (GRCm39) I346V probably benign Het
Mthfd1 C T 12: 76,350,754 (GRCm39) T712M probably benign Het
Nek4 C T 14: 30,704,471 (GRCm39) T662M probably benign Het
Or10g3b T A 14: 52,586,768 (GRCm39) H245L probably damaging Het
Or2y1b C T 11: 49,209,155 (GRCm39) P261S possibly damaging Het
Or4c117 T A 2: 88,956,024 (GRCm39) Q17L possibly damaging Het
Or4k42 A G 2: 111,320,411 (GRCm39) F31L probably benign Het
Or5ac19 A T 16: 59,089,263 (GRCm39) F256I probably benign Het
Or8c18 C T 9: 38,203,343 (GRCm39) T34I probably benign Het
Phc3 G A 3: 31,020,007 (GRCm39) T19I possibly damaging Het
Pla2g4e T A 2: 120,007,282 (GRCm39) Q472L probably benign Het
Plcg2 C T 8: 118,342,002 (GRCm39) T1121I Het
Plin2 T C 4: 86,580,324 (GRCm39) T146A probably benign Het
Pum1 T G 4: 130,474,393 (GRCm39) S488A probably benign Het
Robo1 A G 16: 72,539,002 (GRCm39) probably benign Het
Rsbn1 T C 3: 103,822,188 (GRCm39) L102P probably damaging Het
Sbno2 A T 10: 79,896,049 (GRCm39) V939E probably damaging Het
Scarf1 A T 11: 75,406,069 (GRCm39) T118S possibly damaging Het
Sdcbp2 G A 2: 151,429,113 (GRCm39) V171M probably benign Het
Sh3pxd2b T C 11: 32,361,571 (GRCm39) I261T probably damaging Het
Slc4a9 A G 18: 36,673,787 (GRCm39) probably null Het
Smpdl3a A G 10: 57,683,977 (GRCm39) Y245C probably damaging Het
Stk39 T C 2: 68,222,462 (GRCm39) I201V probably damaging Het
Timm44 A G 8: 4,324,204 (GRCm39) L25P possibly damaging Het
Tmem168 A T 6: 13,591,446 (GRCm39) Y457N probably benign Het
Topbp1 T C 9: 103,200,727 (GRCm39) S587P probably benign Het
Tpp1 T A 7: 105,398,156 (GRCm39) I336F probably benign Het
Ttc28 G A 5: 111,424,896 (GRCm39) V1574I probably benign Het
Tut4 A G 4: 108,400,029 (GRCm39) K1277E probably damaging Het
Vmn2r52 A T 7: 9,905,181 (GRCm39) D219E probably benign Het
Zbtb40 G T 4: 136,745,904 (GRCm39) A43E probably damaging Het
Zfp970 G A 2: 177,167,010 (GRCm39) A195T probably damaging 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
R2862:Tinf2 UTSW 14 55,918,088 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- ACTGTGGGCCGCTCTTTATG -3'
(R):5'- TTTCCAGGTAAGAGGATCAGCG -3'

Sequencing Primer
(F):5'- GCCGCTCTTTATGGCACG -3'
(R):5'- TCAGCGGAGATAACTAGCAATTTG -3'
Posted On 2021-10-11