Incidental Mutation 'IGL03123:Tinf2'
ID 410038
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 # IGL03123
Quality Score
Status
Chromosome 14
Chromosomal Location 55912146-55919277 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55918346 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 128 (D128G)
Ref Sequence ENSEMBL: ENSMUSP00000154628 (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: D128G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000007733
Gene: ENSMUSG00000007589
AA Change: D128G

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 possibly damaging
Transcript: ENSMUST00000227873
AA Change: D70G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000227842
AA Change: D128G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228683
Predicted Effect probably benign
Transcript: ENSMUST00000227914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227996
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228264
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T C 14: 49,311,218 (GRCm39) V96A probably damaging Het
Atp10b T C 11: 43,044,110 (GRCm39) V112A probably benign Het
Caprin2 G T 6: 148,796,505 (GRCm39) A36E probably damaging Het
Castor1 A T 11: 4,170,278 (GRCm39) T119S probably damaging Het
Dnase1l2 T C 17: 24,661,226 (GRCm39) M28V possibly damaging Het
Eci1 T A 17: 24,655,300 (GRCm39) probably null Het
Edil3 T A 13: 89,279,855 (GRCm39) S178T probably damaging Het
Epha5 A G 5: 84,479,085 (GRCm39) probably null Het
Exoc3l4 A G 12: 111,388,547 (GRCm39) E12G probably damaging Het
Frmd7 G A X: 49,984,835 (GRCm39) T445I probably benign Het
Golga4 A G 9: 118,365,953 (GRCm39) E344G probably damaging Het
H2-M10.4 A G 17: 36,772,812 (GRCm39) Y57H probably damaging Het
Hnmt T C 2: 23,909,171 (GRCm39) I81V probably benign Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Htra3 C T 5: 35,823,477 (GRCm39) V280I probably damaging Het
Impg2 G T 16: 56,087,485 (GRCm39) E992D probably damaging Het
Kctd4 T C 14: 76,200,418 (GRCm39) W130R possibly damaging Het
Kdm3b T A 18: 34,942,544 (GRCm39) probably null Het
Kmt2d G A 15: 98,759,652 (GRCm39) T1202M unknown Het
Lrp11 A T 10: 7,478,689 (GRCm39) D326V probably damaging Het
Lrrcc1 A T 3: 14,601,144 (GRCm39) I59F probably damaging Het
Lyg2 G A 1: 37,954,845 (GRCm39) probably benign Het
Med16 A G 10: 79,732,667 (GRCm39) V699A probably damaging Het
Myo18b G T 5: 113,022,804 (GRCm39) probably benign Het
Nrxn2 A G 19: 6,531,767 (GRCm39) T744A probably damaging Het
Or1e1f T A 11: 73,855,812 (GRCm39) I126N probably damaging Het
Oser1 A T 2: 163,253,309 (GRCm39) probably benign Het
Pcdhgc5 T C 18: 37,952,966 (GRCm39) V80A probably benign Het
Pi4ka C T 16: 17,100,539 (GRCm39) G1857D possibly damaging Het
Pitpnc1 C T 11: 107,228,237 (GRCm39) probably null Het
Pofut2 A G 10: 77,102,844 (GRCm39) E137G probably benign Het
Rgsl1 A T 1: 153,701,687 (GRCm39) W291R probably damaging Het
Rnf113a2 T C 12: 84,465,050 (GRCm39) I314T probably benign Het
Rps2 C T 17: 24,939,263 (GRCm39) probably benign Het
Setbp1 T C 18: 78,900,224 (GRCm39) K1148E probably damaging Het
Slc45a2 A G 15: 11,012,741 (GRCm39) D248G probably benign Het
Slit2 G T 5: 48,368,681 (GRCm39) R352L probably damaging Het
Smg1 A G 7: 117,756,404 (GRCm39) probably benign Het
Sycp2 A T 2: 177,994,272 (GRCm39) C1217* probably null Het
Tbcb A G 7: 29,926,261 (GRCm39) probably benign Het
Traf3ip2 A G 10: 39,515,218 (GRCm39) D332G possibly damaging Het
Tram1 A G 1: 13,659,829 (GRCm39) F40L probably benign Het
Trank1 A T 9: 111,196,475 (GRCm39) I1500L probably damaging Het
Wdfy4 G A 14: 32,884,827 (GRCm39) P25L probably benign Het
Wnt5a G T 14: 28,244,882 (GRCm39) Q376H probably damaging Het
Zfp526 A C 7: 24,924,049 (GRCm39) T103P 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
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 2016-08-02