Incidental Mutation 'R4877:Tgif1'
ID 375021
Institutional Source Beutler Lab
Gene Symbol Tgif1
Ensembl Gene ENSMUSG00000047407
Gene Name TGFB-induced factor homeobox 1
Synonyms Tgif
MMRRC Submission 042486-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4877 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 71151200-71160527 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 71156700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059775] [ENSMUST00000118283] [ENSMUST00000127719] [ENSMUST00000134654] [ENSMUST00000172229] [ENSMUST00000166395] [ENSMUST00000186358] [ENSMUST00000135007]
AlphaFold P70284
Predicted Effect probably benign
Transcript: ENSMUST00000059775
SMART Domains Protein: ENSMUSP00000060512
Gene: ENSMUSG00000047407

DomainStartEndE-ValueType
HOX 35 100 1.53e-13 SMART
low complexity region 117 126 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118283
SMART Domains Protein: ENSMUSP00000113192
Gene: ENSMUSG00000047407

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 probably null
Transcript: ENSMUST00000127719
SMART Domains Protein: ENSMUSP00000115375
Gene: ENSMUSG00000047407

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 probably benign
Transcript: ENSMUST00000134654
SMART Domains Protein: ENSMUSP00000125247
Gene: ENSMUSG00000047407

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
Pfam:Homeobox_KN 33 58 7.3e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190687
Predicted Effect probably null
Transcript: ENSMUST00000172229
SMART Domains Protein: ENSMUSP00000127139
Gene: ENSMUSG00000047407

DomainStartEndE-ValueType
HOX 15 80 1.53e-13 SMART
low complexity region 97 106 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176549
Predicted Effect probably benign
Transcript: ENSMUST00000166395
SMART Domains Protein: ENSMUSP00000130930
Gene: ENSMUSG00000047407

DomainStartEndE-ValueType
HOX 68 133 1.53e-13 SMART
low complexity region 150 159 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186358
SMART Domains Protein: ENSMUSP00000139438
Gene: ENSMUSG00000047407

DomainStartEndE-ValueType
HOX 35 84 1.7e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135007
SMART Domains Protein: ENSMUSP00000124168
Gene: ENSMUSG00000047407

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

DomainStartEndE-ValueType
HOX 6 57 2.23e-1 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 100% (76/76)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,258,421 (GRCm39) Y475H probably damaging Het
Adamts12 G T 15: 11,327,787 (GRCm39) G1388V probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Arhgap26 T C 18: 39,429,982 (GRCm39) probably null Het
Atp7b T A 8: 22,518,617 (GRCm39) I74F probably damaging Het
Bod1l A G 5: 41,977,337 (GRCm39) Y1326H probably benign Het
Card11 T C 5: 140,871,632 (GRCm39) S690G probably damaging Het
Cbx3 A G 6: 51,459,540 (GRCm39) E169G possibly damaging Het
Cd28 A T 1: 60,808,861 (GRCm39) M192L possibly damaging Het
Chd6 T C 2: 160,871,219 (GRCm39) probably benign Het
Cyp2c69 C T 19: 39,866,056 (GRCm39) C179Y probably damaging Het
Cyp7b1 A T 3: 18,151,457 (GRCm39) V252E probably damaging Het
Dcp2 G T 18: 44,550,659 (GRCm39) G378C probably benign Het
Dip2b A T 15: 100,058,410 (GRCm39) I196L possibly damaging Het
Erbin G A 13: 103,987,346 (GRCm39) P405S probably damaging Het
Etv1 A G 12: 38,881,292 (GRCm39) probably null Het
F830104G03Rik T G 3: 56,797,917 (GRCm39) K33T unknown Het
Fbln2 C A 6: 91,210,477 (GRCm39) H140Q probably damaging Het
Fxr1 A G 3: 34,101,847 (GRCm39) T109A probably damaging Het
Gm10110 T C 14: 90,134,785 (GRCm39) noncoding transcript Het
Gm9949 C T 18: 62,317,140 (GRCm39) probably benign Het
Grin2d A G 7: 45,504,039 (GRCm39) L604P probably damaging Het
Gstcd A T 3: 132,711,314 (GRCm39) probably benign Het
Ifna16 A G 4: 88,594,681 (GRCm39) V138A probably benign Het
Itpr2 T A 6: 146,226,703 (GRCm39) N1314I probably damaging Het
Kitl T C 10: 99,916,728 (GRCm39) V177A probably damaging Het
L3mbtl1 A T 2: 162,790,488 (GRCm39) Q185L probably damaging Het
Lhx9 T A 1: 138,766,092 (GRCm39) N232I probably benign Het
Lnx1 T C 5: 74,788,784 (GRCm39) R111G probably benign Het
Lrrc41 A G 4: 115,936,602 (GRCm39) I72M probably damaging Het
Lrriq1 T A 10: 103,069,899 (GRCm39) D39V possibly damaging Het
Lyrm7 A G 11: 54,731,936 (GRCm39) probably benign Het
Lyst T A 13: 13,857,734 (GRCm39) Y2508N probably damaging Het
Masp2 A T 4: 148,687,328 (GRCm39) Y70F probably benign Het
Mc4r T C 18: 66,992,409 (GRCm39) I235V probably benign Het
Med12l G A 3: 59,152,214 (GRCm39) V1000M probably damaging Het
Morc2b T C 17: 33,357,712 (GRCm39) H20R probably benign Het
Ms4a1 A T 19: 11,231,857 (GRCm39) S173T probably damaging Het
Myh13 A C 11: 67,228,477 (GRCm39) D339A probably damaging Het
Nars1 A T 18: 64,633,643 (GRCm39) Y542* probably null Het
Nectin2 G A 7: 19,451,645 (GRCm39) T463I possibly damaging Het
Nrg4 A G 9: 55,166,679 (GRCm39) F64L probably benign Het
Nrxn1 T A 17: 91,395,605 (GRCm39) I184F probably benign Het
Nxph2 C T 2: 23,289,846 (GRCm39) P66L probably benign Het
Or10ag2 C T 2: 87,248,907 (GRCm39) Q170* probably null Het
Or2v1 C A 11: 49,025,608 (GRCm39) F196L probably damaging Het
Pard3 A T 8: 128,115,018 (GRCm39) T579S probably damaging Het
Patj A G 4: 98,457,295 (GRCm39) I48V possibly damaging Het
Paxbp1 T C 16: 90,841,199 (GRCm39) probably benign Het
Pou2f3 A T 9: 43,050,618 (GRCm39) N235K possibly damaging Het
Ppp2r2c A G 5: 37,026,214 (GRCm39) D17G probably damaging Het
Rgs8 A G 1: 153,568,633 (GRCm39) probably benign Het
Rnd3 A G 2: 51,038,762 (GRCm39) V42A probably damaging Het
Rp1l1 A G 14: 64,263,620 (GRCm39) R247G probably benign Het
Sec31b A T 19: 44,524,172 (GRCm39) V156D probably damaging Het
Slc22a2 T A 17: 12,833,702 (GRCm39) Y461N possibly damaging Het
Spag6l T C 16: 16,599,622 (GRCm39) K280R possibly damaging Het
Spata31d1a A G 13: 59,850,337 (GRCm39) L597P probably damaging Het
Srr G T 11: 74,798,606 (GRCm39) probably benign Het
Sry C G Y: 2,662,864 (GRCm39) Q265H unknown Het
Tle3 A T 9: 61,280,781 (GRCm39) probably benign Het
Tubgcp4 A G 2: 121,020,343 (GRCm39) T439A probably benign Het
Twist1 C T 12: 34,008,350 (GRCm39) T125M probably damaging Het
Unc13a T A 8: 72,111,260 (GRCm39) D317V possibly damaging Het
Vmn1r227 T A 17: 20,955,407 (GRCm39) noncoding transcript Het
Vps72 G T 3: 95,025,498 (GRCm39) probably benign Het
Zfp184 T C 13: 22,144,498 (GRCm39) S735P possibly damaging Het
Zfp42 A T 8: 43,748,725 (GRCm39) C259S possibly damaging Het
Zmiz2 A G 11: 6,353,251 (GRCm39) H678R probably damaging Het
Other mutations in Tgif1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00757:Tgif1 APN 17 71,153,235 (GRCm39) missense probably damaging 1.00
IGL03169:Tgif1 APN 17 71,151,836 (GRCm39) missense possibly damaging 0.93
IGL03179:Tgif1 APN 17 71,151,942 (GRCm39) missense possibly damaging 0.80
R0050:Tgif1 UTSW 17 71,157,879 (GRCm39) missense probably damaging 1.00
R4569:Tgif1 UTSW 17 71,151,912 (GRCm39) missense possibly damaging 0.51
R4914:Tgif1 UTSW 17 71,152,242 (GRCm39) missense probably damaging 1.00
R4985:Tgif1 UTSW 17 71,151,867 (GRCm39) missense probably benign 0.02
R5272:Tgif1 UTSW 17 71,153,249 (GRCm39) missense probably damaging 1.00
R5760:Tgif1 UTSW 17 71,151,996 (GRCm39) missense probably damaging 1.00
R6270:Tgif1 UTSW 17 71,151,861 (GRCm39) splice site probably null
R6528:Tgif1 UTSW 17 71,153,555 (GRCm39) intron probably benign
R6693:Tgif1 UTSW 17 71,157,885 (GRCm39) start gained probably benign
R7231:Tgif1 UTSW 17 71,153,168 (GRCm39) missense probably damaging 1.00
R7319:Tgif1 UTSW 17 71,151,847 (GRCm39) missense probably damaging 0.99
R7776:Tgif1 UTSW 17 71,158,452 (GRCm39) unclassified probably benign
R7818:Tgif1 UTSW 17 71,156,603 (GRCm39) splice site probably null
R8100:Tgif1 UTSW 17 71,153,544 (GRCm39) intron probably benign
R9051:Tgif1 UTSW 17 71,151,882 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- ATCTGTCAGCCACGTCAAGG -3'
(R):5'- CAAAACAGAAGTTAATCGCTTGGAG -3'

Sequencing Primer
(F):5'- TGACAGAGGTCTTGAGAAGATCCC -3'
(R):5'- CTTGGAGAAGCGGGCGG -3'
Posted On 2016-03-17