Incidental Mutation 'IGL00757:Tgif1'
ID14444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tgif1
Ensembl Gene ENSMUSG00000047407
Gene NameTGFB-induced factor homeobox 1
SynonymsTgif
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00757
Quality Score
Status
Chromosome17
Chromosomal Location70844205-70853546 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 70846240 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 39 (Y39H)
Ref Sequence ENSEMBL: ENSMUSP00000127139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059775] [ENSMUST00000118283] [ENSMUST00000127719] [ENSMUST00000134654] [ENSMUST00000135007] [ENSMUST00000166395] [ENSMUST00000172229] [ENSMUST00000186358]
Predicted Effect probably damaging
Transcript: ENSMUST00000059775
AA Change: Y59H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000060512
Gene: ENSMUSG00000047407
AA Change: Y59H

DomainStartEndE-ValueType
HOX 35 100 1.53e-13 SMART
low complexity region 117 126 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118283
AA Change: Y39H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113192
Gene: ENSMUSG00000047407
AA Change: Y39H

DomainStartEndE-ValueType
HOX 15 80 1.53e-13 SMART
low complexity region 97 106 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125329
Predicted Effect possibly damaging
Transcript: ENSMUST00000127719
AA Change: Y39H

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000115375
Gene: ENSMUSG00000047407
AA Change: Y39H

DomainStartEndE-ValueType
HOX 15 80 1.53e-13 SMART
low complexity region 97 106 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132825
Predicted Effect unknown
Transcript: ENSMUST00000134654
AA Change: Y39H
SMART Domains Protein: ENSMUSP00000125247
Gene: ENSMUSG00000047407
AA Change: Y39H

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
Pfam:Homeobox_KN 33 58 7.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135007
AA Change: Y39H

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124168
Gene: ENSMUSG00000047407
AA Change: Y39H

DomainStartEndE-ValueType
HOX 15 80 1.53e-13 SMART
low complexity region 97 106 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000156484
AA Change: Y29H
SMART Domains Protein: ENSMUSP00000124970
Gene: ENSMUSG00000047407
AA Change: Y29H

DomainStartEndE-ValueType
HOX 6 57 2.23e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000166395
AA Change: Y92H

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130930
Gene: ENSMUSG00000047407
AA Change: Y92H

DomainStartEndE-ValueType
HOX 68 133 1.53e-13 SMART
low complexity region 150 159 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172229
AA Change: Y39H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127139
Gene: ENSMUSG00000047407
AA Change: Y39H

DomainStartEndE-ValueType
HOX 15 80 1.53e-13 SMART
low complexity region 97 106 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186358
AA Change: Y59H

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139438
Gene: ENSMUSG00000047407
AA Change: Y59H

DomainStartEndE-ValueType
HOX 35 84 1.7e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190687
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous null mice display normal growth, behavior and fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik T G 7: 28,154,445 C1611W probably damaging Het
Acsbg1 A C 9: 54,622,719 I231R possibly damaging Het
Ahctf1 G A 1: 179,769,131 P94S probably damaging Het
Cldn34b3 T C X: 76,267,372 I182T possibly damaging Het
Cps1 T A 1: 67,152,380 probably benign Het
Cwf19l2 G T 9: 3,460,054 A781S probably damaging Het
Cyp4v3 T C 8: 45,320,615 I172M probably damaging Het
Gmnc T G 16: 26,963,939 D22A probably damaging Het
Gpr89 T A 3: 96,871,534 T408S probably benign Het
Grk2 A G 19: 4,289,311 probably null Het
Hrasls5 G T 19: 7,614,559 E113D possibly damaging Het
Kctd3 A G 1: 188,972,196 S793P probably damaging Het
Lhx1 A G 11: 84,519,652 F373S probably damaging Het
Mgl2 A T 11: 70,135,150 I71F probably damaging Het
Nbeal1 T A 1: 60,195,143 I91N possibly damaging Het
Otog T A 7: 46,290,128 D2110E probably damaging Het
Pde9a A G 17: 31,443,172 E90G probably benign Het
Prdm10 T C 9: 31,318,546 V86A possibly damaging Het
R3hdm1 T G 1: 128,236,439 I1030R probably damaging Het
Ryr2 T A 13: 11,618,604 probably null Het
Serpina1f A G 12: 103,693,462 I187T probably damaging Het
Slc22a16 C T 10: 40,581,327 T188M probably damaging Het
Spg11 T C 2: 122,070,959 H1500R probably benign Het
Sptlc2 C T 12: 87,369,068 E62K probably damaging Het
Tgfbr1 T A 4: 47,405,581 S326T probably damaging Het
Other mutations in Tgif1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03169:Tgif1 APN 17 70844841 missense possibly damaging 0.93
IGL03179:Tgif1 APN 17 70844947 missense possibly damaging 0.80
R0050:Tgif1 UTSW 17 70850884 missense probably damaging 1.00
R4569:Tgif1 UTSW 17 70844917 missense possibly damaging 0.51
R4877:Tgif1 UTSW 17 70849705 utr 5 prime probably null
R4914:Tgif1 UTSW 17 70845247 missense probably damaging 1.00
R4985:Tgif1 UTSW 17 70844872 missense probably benign 0.02
R5272:Tgif1 UTSW 17 70846254 missense probably damaging 1.00
R5760:Tgif1 UTSW 17 70845001 missense probably damaging 1.00
R6270:Tgif1 UTSW 17 70844866 unclassified probably null
R6528:Tgif1 UTSW 17 70846560 intron probably benign
R6693:Tgif1 UTSW 17 70850890 start gained probably benign
R7231:Tgif1 UTSW 17 70846173 missense probably damaging 1.00
R7319:Tgif1 UTSW 17 70844852 missense probably damaging 0.99
R7776:Tgif1 UTSW 17 70851457 unclassified probably benign
R7818:Tgif1 UTSW 17 70849608 utr 5 prime probably null
R8100:Tgif1 UTSW 17 70846549 intron probably benign
Posted On2012-12-06