Incidental Mutation 'R7389:Tinf2'
ID 596095
Institutional Source Beutler Lab
Gene Symbol Tinf2
Ensembl Gene ENSMUSG00000007589
Gene Name Terf1 (TRF1)-interacting nuclear factor 2
Synonyms D14Wsu146e, TIN2
MMRRC Submission 045471-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7389 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 55912146-55919277 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 55918167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002397] [ENSMUST00000007733] [ENSMUST00000226314] [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 null
Transcript: ENSMUST00000007733
SMART Domains Protein: ENSMUSP00000007733
Gene: ENSMUSG00000007589

DomainStartEndE-ValueType
Pfam:TINF2_N 20 159 1.8e-41 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000226314
Predicted Effect probably benign
Transcript: ENSMUST00000226819
Predicted Effect probably null
Transcript: ENSMUST00000227842
Predicted Effect probably null
Transcript: ENSMUST00000227873
Predicted Effect probably benign
Transcript: ENSMUST00000227914
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (49/50)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa11 C A 14: 25,873,312 (GRCm39) P182Q probably damaging Het
Asns C A 6: 7,689,291 (GRCm39) L70F probably damaging Het
Cntrl A T 2: 35,017,529 (GRCm39) K445N probably benign Het
Cyp2c50 G T 19: 40,079,107 (GRCm39) R150L probably benign Het
Dqx1 G T 6: 83,041,775 (GRCm39) S539I probably null Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Epha3 T C 16: 63,593,347 (GRCm39) E247G probably damaging Het
Etl4 C T 2: 20,789,904 (GRCm39) Q801* probably null Het
Fabp2 G T 3: 122,689,014 (GRCm39) probably benign Het
Fsip2 G A 2: 82,819,140 (GRCm39) V4958I possibly damaging Het
Fstl3 G A 10: 79,615,865 (GRCm39) C117Y probably damaging Het
Hdgfl2 T G 17: 56,406,389 (GRCm39) probably null Het
Igfn1 T C 1: 135,894,785 (GRCm39) D1927G probably benign Het
Ino80 A C 2: 119,273,010 (GRCm39) S489A probably benign Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Lrriq3 A G 3: 154,893,741 (GRCm39) T481A probably benign Het
Map2k3 A T 11: 60,822,862 (GRCm39) probably benign Het
Matr3 A G 18: 35,717,638 (GRCm39) T617A probably benign Het
Mybpc2 T G 7: 44,155,028 (GRCm39) T960P probably benign Het
Ncoa2 T C 1: 13,257,049 (GRCm39) N150S possibly damaging Het
Nup153 A T 13: 46,854,463 (GRCm39) probably null Het
Obscn A G 11: 58,927,226 (GRCm39) L5498P probably benign Het
Or5b21 G T 19: 12,839,981 (GRCm39) V281L probably benign Het
Or5v1b A G 17: 37,841,548 (GRCm39) R227G possibly damaging Het
Paqr8 C A 1: 21,005,389 (GRCm39) P181Q probably damaging Het
Pcdhgb4 T C 18: 37,855,416 (GRCm39) Y604H probably damaging Het
Pja2 T A 17: 64,604,722 (GRCm39) E487V probably damaging Het
Pnpla6 C T 8: 3,593,981 (GRCm39) R1331* probably null Het
Ppl T A 16: 4,924,577 (GRCm39) probably null Het
Rhbdl3 T A 11: 80,237,665 (GRCm39) M299K possibly damaging Het
Scart1 A G 7: 139,808,704 (GRCm39) K872E possibly damaging Het
Slc26a9 A G 1: 131,696,986 (GRCm39) *791W probably null Het
Slc7a2 A G 8: 41,365,552 (GRCm39) Y461C probably benign Het
Sptb G T 12: 76,671,003 (GRCm39) Q447K probably damaging Het
Ssh1 A T 5: 114,096,892 (GRCm39) I205N probably benign Het
Stab1 C T 14: 30,869,196 (GRCm39) V1511I probably benign Het
Tex19.1 T C 11: 121,037,986 (GRCm39) W115R possibly damaging Het
Tmeff1 A G 4: 48,617,097 (GRCm39) probably null Het
Tnip2 G T 5: 34,671,145 (GRCm39) Q33K probably benign Het
Traf3 C A 12: 111,204,187 (GRCm39) L59M probably damaging Het
Trav14d-3-dv8 T C 14: 53,316,328 (GRCm39) Y63H possibly damaging Het
Trim11 C T 11: 58,881,481 (GRCm39) S458L probably damaging Het
Tspan18 A T 2: 93,040,272 (GRCm39) V161E probably benign Het
Usf3 T A 16: 44,038,304 (GRCm39) V928E probably benign Het
Usp29 G A 7: 6,966,457 (GRCm39) V767I possibly damaging Het
Usp34 T G 11: 23,295,200 (GRCm39) F287L Het
Vmn1r213 T C 13: 23,196,556 (GRCm39) C380R probably benign Het
Zfyve9 A G 4: 108,550,515 (GRCm39) probably null 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
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'- CCATATAACTTCCATTCGGCTGAC -3'
(R):5'- GCTTCACTTTCCCACATACAGG -3'

Sequencing Primer
(F):5'- CTGACTCAGGTTTGGTAGAGCTAAAC -3'
(R):5'- GAACAAGACTATGGGGAATCCTTTC -3'
Posted On 2019-11-18