Incidental Mutation 'IGL01879:Tinf2'
ID 179007
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tinf2
Ensembl Gene ENSMUSG00000007589
Gene Name Terf1 (TRF1)-interacting nuclear factor 2
Synonyms D14Wsu146e, TIN2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01879
Quality Score
Status
Chromosome 14
Chromosomal Location 55912146-55919277 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 55918363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154349 (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 benign
Transcript: ENSMUST00000007733
SMART Domains Protein: ENSMUSP00000007733
Gene: ENSMUSG00000007589

DomainStartEndE-ValueType
Pfam:TINF2_N 20 159 1.8e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157777
Predicted Effect probably benign
Transcript: ENSMUST00000226314
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226641
Predicted Effect probably benign
Transcript: ENSMUST00000226819
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228264
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227996
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227696
Predicted Effect probably benign
Transcript: ENSMUST00000227842
Predicted Effect probably benign
Transcript: ENSMUST00000227873
Predicted Effect probably benign
Transcript: ENSMUST00000227914
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cgn G A 3: 94,681,674 (GRCm39) R474* probably null Het
Chmp4b T C 2: 154,534,601 (GRCm39) probably benign Het
Chst15 A G 7: 131,871,994 (GRCm39) Y96H possibly damaging Het
Clstn3 A G 6: 124,415,769 (GRCm39) S638P probably damaging Het
Colq C T 14: 31,265,952 (GRCm39) G187E probably damaging Het
Cyp2b23 A G 7: 26,372,279 (GRCm39) Y389H probably benign Het
Cyp3a13 T C 5: 137,917,265 (GRCm39) Q54R probably benign Het
Dscc1 T C 15: 54,950,212 (GRCm39) I178V probably benign Het
Fbxo4 G A 15: 4,005,436 (GRCm39) T148M probably damaging Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gpr162 A G 6: 124,838,204 (GRCm39) S149P probably damaging Het
Grid1 T A 14: 35,172,327 (GRCm39) I611N possibly damaging Het
Mgat5 T C 1: 127,325,287 (GRCm39) F385L probably damaging Het
Npepps T C 11: 97,149,166 (GRCm39) T17A possibly damaging Het
Or4c125 T C 2: 89,170,366 (GRCm39) I93M probably benign Het
Or4n4b A G 14: 50,535,969 (GRCm39) S266P probably benign Het
Or5p60 A T 7: 107,724,371 (GRCm39) I33N possibly damaging Het
Or7g29 A T 9: 19,286,703 (GRCm39) L158* probably null Het
Parg T C 14: 31,993,579 (GRCm39) probably benign Het
Rad51ap2 A G 12: 11,508,139 (GRCm39) D687G probably benign Het
Sh3bp1 T G 15: 78,792,192 (GRCm39) S450A probably damaging Het
Skap2 T C 6: 51,973,014 (GRCm39) D90G possibly damaging Het
Smc5 C T 19: 23,205,548 (GRCm39) R796H probably damaging Het
Tdrd12 A C 7: 35,221,348 (GRCm39) I146S probably damaging Het
Trio G A 15: 27,741,119 (GRCm39) T2702I probably benign Het
Vmn1r88 T A 7: 12,912,229 (GRCm39) M195K probably benign Het
Vmn2r110 T C 17: 20,794,122 (GRCm39) H849R probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r4 C T 3: 64,298,431 (GRCm39) G566R probably damaging Het
Wdpcp A G 11: 21,661,630 (GRCm39) T301A probably damaging Het
Other mutations in Tinf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00782:Tinf2 APN 14 55,917,921 (GRCm39) splice site probably null
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
R9003:Tinf2 UTSW 14 55,917,859 (GRCm39) missense probably benign 0.24
Posted On 2014-05-07