Incidental Mutation 'IGL02440:Tbx4'
ID293431
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbx4
Ensembl Gene ENSMUSG00000000094
Gene NameT-box 4
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02440
Quality Score
Status
Chromosome11
Chromosomal Location85886422-85916097 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85890894 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 80 (E80G)
Ref Sequence ENSEMBL: ENSMUSP00000103682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000096] [ENSMUST00000108047]
Predicted Effect probably damaging
Transcript: ENSMUST00000000096
AA Change: E80G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000096
Gene: ENSMUSG00000000094
AA Change: E80G

DomainStartEndE-ValueType
TBOX 71 261 1.15e-126 SMART
Blast:TBOX 302 495 1e-122 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000108047
AA Change: E80G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103682
Gene: ENSMUSG00000000094
AA Change: E80G

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a1 A G 5: 67,667,434 probably benign Het
Bmt2 C T 6: 13,628,610 R358Q probably damaging Het
C2cd6 A G 1: 59,075,100 I182T probably benign Het
Calr3 T C 8: 72,431,432 T100A probably benign Het
Ccdc129 A G 6: 55,884,728 T97A possibly damaging Het
Cln3 T C 7: 126,582,782 K36R probably benign Het
Ddx25 C T 9: 35,557,678 probably benign Het
Dmxl2 A T 9: 54,406,615 V1677E probably damaging Het
Dnah10 A G 5: 124,773,819 E1684G probably damaging Het
Dnah9 A G 11: 65,955,246 S2989P probably damaging Het
F5 A T 1: 164,207,066 T1845S possibly damaging Het
Folh1 G T 7: 86,734,104 N478K probably benign Het
Gpr22 T C 12: 31,709,140 I328V probably damaging Het
Itln1 C T 1: 171,531,529 A128T probably benign Het
Kank1 A G 19: 25,432,908 K1322R probably damaging Het
Klhdc2 A G 12: 69,303,640 Y153C probably damaging Het
Lonp2 T A 8: 86,624,185 M1K probably null Het
Mtor T A 4: 148,546,429 M2281K probably benign Het
Mtor T A 4: 148,491,647 N1378K probably benign Het
Myo1e G A 9: 70,346,740 R557H probably damaging Het
Nedd4l T C 18: 65,163,173 probably null Het
Olfr1504 A T 19: 13,887,859 M117K probably damaging Het
Olfr325 A T 11: 58,581,209 M122L probably damaging Het
Olfr373 T A 8: 72,100,530 F257I probably damaging Het
Olfr457 T C 6: 42,472,166 D4G probably benign Het
Pcdh18 T C 3: 49,744,603 probably benign Het
Phldb1 T C 9: 44,715,403 T582A probably damaging Het
Plxna2 A T 1: 194,746,150 E509D probably benign Het
Poln A T 5: 34,129,130 D231E probably damaging Het
Prex2 G A 1: 11,153,657 R735Q possibly damaging Het
Prpf40b T C 15: 99,306,866 S263P probably damaging Het
Sfmbt2 C T 2: 10,568,383 A574V probably damaging Het
Slc12a3 T C 8: 94,331,682 I152T probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Svep1 T C 4: 58,145,293 I391V probably benign Het
Vmn2r22 A G 6: 123,637,405 Y409H probably benign Het
Zfp691 T G 4: 119,170,296 R246S probably damaging Het
Zfp846 T C 9: 20,588,500 probably benign Het
Other mutations in Tbx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01722:Tbx4 APN 11 85911943 missense probably damaging 1.00
IGL02113:Tbx4 APN 11 85912264 missense possibly damaging 0.82
IGL02172:Tbx4 APN 11 85914563 missense possibly damaging 0.83
IGL02889:Tbx4 APN 11 85899795 nonsense probably null
IGL03380:Tbx4 APN 11 85914639 missense probably benign 0.00
R0332:Tbx4 UTSW 11 85898530 missense probably benign 0.06
R1772:Tbx4 UTSW 11 85911207 missense probably damaging 0.96
R1829:Tbx4 UTSW 11 85911920 intron probably null
R1907:Tbx4 UTSW 11 85914523 missense possibly damaging 0.79
R4470:Tbx4 UTSW 11 85912122 missense probably damaging 0.98
R5484:Tbx4 UTSW 11 85914404 missense probably damaging 0.99
R5540:Tbx4 UTSW 11 85911168 missense possibly damaging 0.94
R6962:Tbx4 UTSW 11 85890259 missense probably benign 0.01
R7355:Tbx4 UTSW 11 85912009 missense probably damaging 1.00
R8017:Tbx4 UTSW 11 85914160 missense probably damaging 1.00
R8019:Tbx4 UTSW 11 85914160 missense probably damaging 1.00
R8172:Tbx4 UTSW 11 85911107 missense probably benign 0.00
R8235:Tbx4 UTSW 11 85890232 small deletion probably benign
R8374:Tbx4 UTSW 11 85914276 missense probably benign 0.21
X0027:Tbx4 UTSW 11 85914383 missense probably damaging 1.00
Posted On2015-04-16