Incidental Mutation 'IGL02172:Tbx4'
ID282925
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 #IGL02172
Quality Score
Status
Chromosome11
Chromosomal Location85886422-85916097 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 85914563 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 493 (G493R)
Ref Sequence ENSEMBL: ENSMUSP00000103682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000096] [ENSMUST00000108045] [ENSMUST00000108047]
Predicted Effect possibly damaging
Transcript: ENSMUST00000000096
AA Change: G493R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000000096
Gene: ENSMUSG00000000094
AA Change: G493R

DomainStartEndE-ValueType
TBOX 71 261 1.15e-126 SMART
Blast:TBOX 302 495 1e-122 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000108045
AA Change: G393R

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103680
Gene: ENSMUSG00000000094
AA Change: G393R

DomainStartEndE-ValueType
TBOX 1 161 5e-86 SMART
Blast:TBOX 202 395 1e-122 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000108047
AA Change: G493R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103682
Gene: ENSMUSG00000000094
AA Change: G493R

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,004,873 V3236A probably damaging Het
Abca12 A G 1: 71,302,658 V1048A probably benign Het
Adgre1 C T 17: 57,478,879 T875I probably damaging Het
Arhgef26 T C 3: 62,459,676 V810A probably benign Het
Atf1 T A 15: 100,254,441 V105E probably damaging Het
Bbs9 C T 9: 22,579,476 T300I possibly damaging Het
Brd7 G T 8: 88,351,824 H226Q probably benign Het
Cadps T C 14: 12,705,681 K238R probably damaging Het
Chordc1 A G 9: 18,302,092 T80A possibly damaging Het
Clca4a A T 3: 144,970,394 C126* probably null Het
Col24a1 A T 3: 145,314,962 T365S probably benign Het
Crb1 C T 1: 139,237,227 G1053D probably damaging Het
Creb3l4 A T 3: 90,242,775 S20T probably benign Het
Cyp2c67 C T 19: 39,649,002 C10Y possibly damaging Het
Dhdh A T 7: 45,475,617 C294S probably damaging Het
Fam135a A G 1: 24,024,780 probably null Het
Fsd1 G T 17: 55,990,244 probably benign Het
Gatad2b A G 3: 90,355,671 probably benign Het
Glb1l2 T C 9: 26,769,086 D232G probably damaging Het
Gm10553 T C 1: 85,100,294 L44P probably damaging Het
Hecw1 T C 13: 14,264,149 Y883C probably damaging Het
Helq A G 5: 100,790,147 F478L probably damaging Het
Ift172 T C 5: 31,281,337 probably benign Het
Krtcap3 A C 5: 31,252,053 T55P probably damaging Het
Megf6 A G 4: 154,270,692 D1488G probably damaging Het
Mrpl1 T C 5: 96,231,715 V203A probably damaging Het
Myh2 A T 11: 67,189,052 D1084V possibly damaging Het
Necap2 T A 4: 141,078,310 probably benign Het
Nemp1 A G 10: 127,692,999 S191G probably benign Het
Nrip1 T C 16: 76,291,492 D1059G probably damaging Het
Ntrk3 A T 7: 78,460,272 probably benign Het
Olfr558 G A 7: 102,709,844 R195H probably benign Het
Olfr583 A G 7: 103,051,375 I26V probably benign Het
Prkdc T G 16: 15,809,759 V3427G probably benign Het
Ptprn2 A T 12: 116,873,697 probably benign Het
Ptprt A T 2: 161,555,502 L1095H probably damaging Het
Ren1 T A 1: 133,359,033 L300Q possibly damaging Het
Rgl3 A G 9: 21,976,838 I460T probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Runx1t1 A C 4: 13,859,924 Q265P probably benign Het
Sh3d21 A G 4: 126,152,360 S282P probably benign Het
Slc39a13 T C 2: 91,063,160 E318G possibly damaging Het
Srd5a3 T C 5: 76,147,709 I82T probably benign Het
Stard7 C A 2: 127,290,872 T220N probably damaging Het
Trerf1 A T 17: 47,317,817 noncoding transcript Het
Trim59 T A 3: 69,037,477 I177L probably benign Het
Trpm7 T C 2: 126,795,328 M1789V possibly damaging Het
Tsc22d1 T C 14: 76,417,692 V455A probably benign Het
Vmn2r118 C A 17: 55,624,598 M25I probably benign Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wdr90 G A 17: 25,850,434 T1233I probably benign Het
Zcchc2 G A 1: 106,000,934 D308N probably benign Het
Zfp57 G T 17: 37,009,589 V112L possibly damaging Het
Zfp874b A T 13: 67,474,016 Y388N probably damaging 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
IGL02440:Tbx4 APN 11 85890894 missense probably damaging 1.00
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
X0027:Tbx4 UTSW 11 85914383 missense probably damaging 1.00
Posted On2015-04-16