Incidental Mutation 'R8100:Tgif1'
ID630482
Institutional Source Beutler Lab
Gene Symbol Tgif1
Ensembl Gene ENSMUSG00000047407
Gene NameTGFB-induced factor homeobox 1
SynonymsTgif
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R8100 (G1)
Quality Score166.009
Status Not validated
Chromosome17
Chromosomal Location70844205-70853546 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) C to A at 70846549 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059775] [ENSMUST00000118283] [ENSMUST00000127719] [ENSMUST00000134654] [ENSMUST00000135007] [ENSMUST00000166395] [ENSMUST00000172229] [ENSMUST00000186358]
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 probably benign
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 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 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
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: 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 probably benign
Transcript: ENSMUST00000186358
SMART Domains Protein: ENSMUSP00000139438
Gene: ENSMUSG00000047407

DomainStartEndE-ValueType
HOX 35 84 1.7e-3 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 G A 14: 55,772,265 Q777* probably null Het
Art1 T C 7: 102,107,198 S199P probably damaging Het
Cadps2 A T 6: 23,838,809 M110K probably damaging Het
Cdk13 C T 13: 17,803,516 R379Q unknown Het
Cdk7 T C 13: 100,706,417 I272V probably benign Het
Cep350 T C 1: 155,953,402 D192G probably damaging Het
Chrna6 C T 8: 27,413,816 probably benign Het
Ciart G A 3: 95,881,344 P61L probably damaging Het
Ckmt1 T A 2: 121,360,777 D223E probably benign Het
Col6a5 C T 9: 105,878,640 R2195H probably damaging Het
D430041D05Rik C T 2: 104,256,942 R563H probably benign Het
Defa29 A T 8: 21,326,974 M1K probably null Het
Dnah11 A G 12: 117,966,633 S3326P probably damaging Het
Dsg3 A G 18: 20,528,971 D431G probably benign Het
E430018J23Rik C T 7: 127,393,324 C38Y probably null Het
Ell3 TCTCCTC TCTC 2: 121,439,456 probably benign Het
Fbln1 T A 15: 85,285,156 F699I probably damaging Het
Fndc1 A G 17: 7,771,853 S1004P unknown Het
Gpr15 T A 16: 58,717,713 T338S probably benign Het
Grin2d T C 7: 45,833,747 Y1002C unknown Het
Hk2 C T 6: 82,730,878 M703I probably benign Het
Ifi213 A C 1: 173,595,182 L39R probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,436,913 probably benign Het
Lama2 C A 10: 27,041,117 A2271S probably benign Het
Lmo7 A T 14: 101,900,463 Q867L probably benign Het
Loxhd1 T A 18: 77,404,816 S1427T possibly damaging Het
Lzts1 A G 8: 69,140,745 V70A probably damaging Het
Mocs3 A G 2: 168,231,337 T235A possibly damaging Het
Myo15 G A 11: 60,517,190 R3168H probably damaging Het
Ndc1 A G 4: 107,383,605 D260G possibly damaging Het
Nfam1 T C 15: 83,016,529 D44G probably damaging Het
Olfr1256 G A 2: 89,835,685 Q87* probably null Het
Osbpl10 G A 9: 115,167,254 R128H probably benign Het
Otx1 C A 11: 21,999,392 V29L probably benign Het
Pogk A T 1: 166,401,942 D113E possibly damaging Het
Ptgs2 T C 1: 150,102,721 F195L probably damaging Het
Ptpn21 T A 12: 98,682,622 E925V possibly damaging Het
Ranbp2 T C 10: 58,490,648 F2714L possibly damaging Het
Rbm20 T G 19: 53,851,313 I911S possibly damaging Het
Rwdd2b A G 16: 87,436,621 V197A possibly damaging Het
Sel1l2 C G 2: 140,275,409 A181P probably damaging Het
Sf1 A G 19: 6,372,338 E234G possibly damaging Het
Skint2 A C 4: 112,626,000 T201P probably damaging Het
Sra1 C T 18: 36,676,895 R199H probably damaging Het
Svs2 A G 2: 164,237,792 M65T probably benign Het
Tmem184c A G 8: 77,604,782 W113R possibly damaging Het
Tmem30a T C 9: 79,774,150 R282G probably benign Het
Top1 T A 2: 160,698,235 Y244* probably null Het
Trank1 A G 9: 111,392,793 Y2866C probably damaging Het
Trim7 A C 11: 48,849,519 I148L probably damaging Het
Triml1 T A 8: 43,138,680 M214L probably benign Het
Usp30 T G 5: 114,111,184 V183G probably damaging Het
Vmn1r175 G A 7: 23,808,587 S205F probably damaging Het
Zbtb32 CTTG CTTGTTG 7: 30,591,521 probably benign Het
Zfp108 T A 7: 24,261,177 C398S probably damaging Het
Zfp592 T G 7: 81,024,192 D301E probably benign Het
Other mutations in Tgif1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00757:Tgif1 APN 17 70846240 missense probably damaging 1.00
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 splice site 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 splice site 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 splice site probably null
Predicted Primers PCR Primer
(F):5'- CTGCCAGATGCTGCAACAAG -3'
(R):5'- TAAGGACTGATGGGTAGCATTTAGG -3'

Sequencing Primer
(F):5'- TGCTGCAACAAGACCTGAG -3'
(R):5'- GATGGGTAGCATTTAGGTTCATATC -3'
Posted On2020-06-30