Incidental Mutation 'IGL02113:Tbx4'
ID 280253
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbx4
Ensembl Gene ENSMUSG00000000094
Gene Name T-box 4
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02113
Quality Score
Status
Chromosome 11
Chromosomal Location 85777248-85806923 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85803090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 322 (E322G)
Ref Sequence ENSEMBL: ENSMUSP00000103682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000096] [ENSMUST00000108045] [ENSMUST00000108047]
AlphaFold P70325
Predicted Effect possibly damaging
Transcript: ENSMUST00000000096
AA Change: E322G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000000096
Gene: ENSMUSG00000000094
AA Change: E322G

DomainStartEndE-ValueType
TBOX 71 261 1.15e-126 SMART
Blast:TBOX 302 495 1e-122 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000108045
AA Change: E222G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103680
Gene: ENSMUSG00000000094
AA Change: E222G

DomainStartEndE-ValueType
TBOX 1 161 5e-86 SMART
Blast:TBOX 202 395 1e-122 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000108047
AA Change: E322G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103682
Gene: ENSMUSG00000000094
AA Change: E322G

DomainStartEndE-ValueType
TBOX 71 261 1.15e-126 SMART
Blast:TBOX 302 495 1e-122 BLAST
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 is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit stunted, apoptotic allantoises lacking vascular remodeling, fail to undergo chorioallantoic fusion, lack hindlimb buds, and die by embryonic day 10.5. Heterozygotes show mildly impaired allantois growth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,904,127 (GRCm39) H726L possibly damaging Het
Aqr A T 2: 113,950,508 (GRCm39) Y900* probably null Het
Atp11a G T 8: 12,915,048 (GRCm39) R1155S probably benign Het
Bahd1 A G 2: 118,747,686 (GRCm39) D435G probably benign Het
Brca2 A G 5: 150,464,444 (GRCm39) T1403A possibly damaging Het
Cc2d2a T A 5: 43,842,590 (GRCm39) probably null Het
Cog7 A G 7: 121,524,703 (GRCm39) I697T probably damaging Het
Dclre1a A G 19: 56,529,964 (GRCm39) V791A probably damaging Het
Dgki A G 6: 36,890,560 (GRCm39) probably benign Het
Dpyd A G 3: 118,792,868 (GRCm39) Y525C probably benign Het
Eepd1 T C 9: 25,394,009 (GRCm39) L91P probably damaging Het
Foxf1 T A 8: 121,811,304 (GRCm39) L56H probably damaging Het
Fry A T 5: 150,323,070 (GRCm39) M1074L probably benign Het
Gbx1 T C 5: 24,709,874 (GRCm39) T324A probably damaging Het
Gfpt1 T A 6: 87,064,349 (GRCm39) N646K probably benign Het
Gm10258 C T 3: 30,322,542 (GRCm39) probably benign Het
Gm12887 T C 4: 121,473,692 (GRCm39) M53V probably benign Het
Hoxa11 C T 6: 52,222,297 (GRCm39) G135S probably damaging Het
Mettl6 A T 14: 31,204,788 (GRCm39) Y211* probably null Het
Moxd2 T C 6: 40,862,338 (GRCm39) I160M probably benign Het
Mphosph10 G A 7: 64,026,555 (GRCm39) probably benign Het
Mrpl19 T A 6: 81,942,896 (GRCm39) M5L probably benign Het
Nbea A G 3: 55,899,913 (GRCm39) V1412A probably benign Het
Nceh1 G T 3: 27,277,040 (GRCm39) S121I probably damaging Het
Ntan1 A G 16: 13,653,008 (GRCm39) T217A probably damaging Het
Ogfod1 C T 8: 94,790,841 (GRCm39) A504V probably damaging Het
Or52r1c A T 7: 102,735,057 (GRCm39) I111L possibly damaging Het
Pde3b G A 7: 114,126,141 (GRCm39) V792M probably damaging Het
Pde9a A T 17: 31,678,944 (GRCm39) M262L probably benign Het
Pi4ka A G 16: 17,191,279 (GRCm39) V206A probably benign Het
Pkp1 A T 1: 135,811,652 (GRCm39) N406K possibly damaging Het
Rcn3 A G 7: 44,732,762 (GRCm39) I302T probably damaging Het
Rfx6 A G 10: 51,554,108 (GRCm39) Q68R probably benign Het
Rpgrip1 A G 14: 52,371,301 (GRCm39) D340G possibly damaging Het
Scn10a C T 9: 119,438,956 (GRCm39) G1638S probably damaging Het
Serpinb9f A T 13: 33,518,451 (GRCm39) H317L probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slc40a1 A G 1: 45,950,054 (GRCm39) I466T probably benign Het
Smyd2 A T 1: 189,614,414 (GRCm39) S371R probably damaging Het
Snap47 A C 11: 59,319,262 (GRCm39) I292S probably damaging Het
Tg A G 15: 66,577,179 (GRCm39) T1501A probably benign Het
Tmem259 A G 10: 79,814,543 (GRCm39) V300A probably benign Het
Usp7 A G 16: 8,534,377 (GRCm39) probably null Het
Vmn2r94 G T 17: 18,477,937 (GRCm39) T158K probably damaging Het
Vmn2r95 G T 17: 18,660,169 (GRCm39) A194S possibly damaging Het
Zfp944 A T 17: 22,558,047 (GRCm39) I400N possibly damaging Het
Zmynd12 T A 4: 119,291,194 (GRCm39) I53K probably damaging Het
Other mutations in Tbx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01722:Tbx4 APN 11 85,802,769 (GRCm39) missense probably damaging 1.00
IGL02172:Tbx4 APN 11 85,805,389 (GRCm39) missense possibly damaging 0.83
IGL02440:Tbx4 APN 11 85,781,720 (GRCm39) missense probably damaging 1.00
IGL02889:Tbx4 APN 11 85,790,621 (GRCm39) nonsense probably null
IGL03380:Tbx4 APN 11 85,805,465 (GRCm39) missense probably benign 0.00
R0332:Tbx4 UTSW 11 85,789,356 (GRCm39) missense probably benign 0.06
R1772:Tbx4 UTSW 11 85,802,033 (GRCm39) missense probably damaging 0.96
R1829:Tbx4 UTSW 11 85,802,746 (GRCm39) splice site probably null
R1907:Tbx4 UTSW 11 85,805,349 (GRCm39) missense possibly damaging 0.79
R4470:Tbx4 UTSW 11 85,802,948 (GRCm39) missense probably damaging 0.98
R5484:Tbx4 UTSW 11 85,805,230 (GRCm39) missense probably damaging 0.99
R5540:Tbx4 UTSW 11 85,801,994 (GRCm39) missense possibly damaging 0.94
R6962:Tbx4 UTSW 11 85,781,085 (GRCm39) missense probably benign 0.01
R7355:Tbx4 UTSW 11 85,802,835 (GRCm39) missense probably damaging 1.00
R8017:Tbx4 UTSW 11 85,804,986 (GRCm39) missense probably damaging 1.00
R8019:Tbx4 UTSW 11 85,804,986 (GRCm39) missense probably damaging 1.00
R8172:Tbx4 UTSW 11 85,801,933 (GRCm39) missense probably benign 0.00
R8374:Tbx4 UTSW 11 85,805,102 (GRCm39) missense probably benign 0.21
R9641:Tbx4 UTSW 11 85,803,128 (GRCm39) missense probably damaging 1.00
X0027:Tbx4 UTSW 11 85,805,209 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16