Incidental Mutation 'IGL00782:Tinf2'
ID10372
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tinf2
Ensembl Gene ENSMUSG00000007589
Gene NameTerf1 (TRF1)-interacting nuclear factor 2
SynonymsD14Wsu146e, TIN2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00782
Quality Score
Status
Chromosome14
Chromosomal Location55674689-55681820 bp(-) (GRCm38)
Type of Mutationsplice site (3430 bp from exon)
DNA Base Change (assembly) A to G at 55680464 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002397] [ENSMUST00000007733] [ENSMUST00000226314] [ENSMUST00000227842] [ENSMUST00000227873] [ENSMUST00000227914]
Predicted Effect probably null
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: ENSMUST00000227106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227696
Predicted Effect probably benign
Transcript: ENSMUST00000227842
Predicted Effect probably benign
Transcript: ENSMUST00000227873
Predicted Effect probably null
Transcript: ENSMUST00000227914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227996
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228264
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228683
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A T 7: 119,573,168 E78V probably damaging Het
Atxn7 A G 14: 14,096,218 I508V possibly damaging Het
Cecr2 A G 6: 120,761,621 N1075S probably benign Het
Clcn3 A G 8: 60,922,792 I689T probably damaging Het
Cntnap3 T C 13: 64,745,805 probably benign Het
Defb11 T C 8: 21,905,494 I56V probably benign Het
Ercc5 A G 1: 44,163,935 N244S probably damaging Het
Gabrg3 A G 7: 57,381,667 S42P probably damaging Het
Hcrtr2 A T 9: 76,230,497 probably benign Het
Jcad T C 18: 4,675,073 L945S probably benign Het
Lrp2 T C 2: 69,501,645 M1589V probably benign Het
Prkg1 C T 19: 30,578,753 probably benign Het
Samd1 T C 8: 83,999,617 F464S probably damaging Het
Slc35b3 A G 13: 38,943,140 S213P possibly damaging Het
Taar1 A G 10: 23,920,446 N14S probably benign Het
Utrn T C 10: 12,652,811 N2140S probably benign Het
Zfp780b T C 7: 27,964,761 D123G probably benign Het
Other mutations in Tinf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01879:Tinf2 APN 14 55680906 unclassified probably benign
IGL03123:Tinf2 APN 14 55680889 missense probably damaging 0.99
R0815:Tinf2 UTSW 14 55680109 missense probably benign 0.01
R0863:Tinf2 UTSW 14 55680109 missense probably benign 0.01
R2862:Tinf2 UTSW 14 55680631 missense probably damaging 1.00
R5575:Tinf2 UTSW 14 55680174 missense probably benign 0.23
R6833:Tinf2 UTSW 14 55681580 start codon destroyed probably null 1.00
R7389:Tinf2 UTSW 14 55680710 splice site probably null
R8246:Tinf2 UTSW 14 55679585 missense probably damaging 0.97
R8368:Tinf2 UTSW 14 55679573 missense probably damaging 1.00
Posted On2012-12-06