Incidental Mutation 'R4470:Tbx4'
ID 329386
Institutional Source Beutler Lab
Gene Symbol Tbx4
Ensembl Gene ENSMUSG00000000094
Gene Name T-box 4
Synonyms
MMRRC Submission 041727-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4470 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 85777248-85806923 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85802948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 275 (I275V)
Ref Sequence ENSEMBL: ENSMUSP00000103682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000096] [ENSMUST00000108045] [ENSMUST00000108047]
AlphaFold P70325
Predicted Effect probably damaging
Transcript: ENSMUST00000000096
AA Change: I275V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000096
Gene: ENSMUSG00000000094
AA Change: I275V

DomainStartEndE-ValueType
TBOX 71 261 1.15e-126 SMART
Blast:TBOX 302 495 1e-122 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000108045
AA Change: I175V

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103680
Gene: ENSMUSG00000000094
AA Change: I175V

DomainStartEndE-ValueType
TBOX 1 161 5e-86 SMART
Blast:TBOX 202 395 1e-122 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000108047
AA Change: I275V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103682
Gene: ENSMUSG00000000094
AA Change: I275V

DomainStartEndE-ValueType
TBOX 71 261 1.15e-126 SMART
Blast:TBOX 302 495 1e-122 BLAST
Meta Mutation Damage Score 0.1040 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 100% (56/56)
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
Adamts1 A C 16: 85,595,404 (GRCm39) V258G possibly damaging Het
Adcy1 A G 11: 7,094,804 (GRCm39) T577A probably benign Het
Adgb T C 10: 10,274,695 (GRCm39) N728S probably benign Het
Alpk1 A G 3: 127,473,175 (GRCm39) S943P probably damaging Het
Ankdd1a T C 9: 65,410,791 (GRCm39) D398G probably damaging Het
Asah1 A G 8: 41,796,761 (GRCm39) probably null Het
Atp13a1 T C 8: 70,251,329 (GRCm39) S495P probably damaging Het
Camta2 T C 11: 70,571,766 (GRCm39) D510G probably damaging Het
Cdh8 T A 8: 100,143,321 (GRCm39) probably benign Het
Cul9 C T 17: 46,849,262 (GRCm39) A628T probably benign Het
Ddx19a A G 8: 111,703,111 (GRCm39) V442A probably benign Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dnah7c T A 1: 46,787,795 (GRCm39) S3283T possibly damaging Het
Fmo9 T A 1: 166,507,799 (GRCm39) I19F probably damaging Het
Gmeb2 A T 2: 180,906,938 (GRCm39) probably null Het
H2-K2 G A 17: 34,219,035 (GRCm39) R23C probably benign Het
Icam5 T A 9: 20,946,802 (GRCm39) C443* probably null Het
Il16 A G 7: 83,300,046 (GRCm39) probably benign Het
Kcnj3 A T 2: 55,327,877 (GRCm39) H222L probably damaging Het
Lama4 T A 10: 38,956,492 (GRCm39) Y1138* probably null Het
Lpin3 A G 2: 160,737,354 (GRCm39) T134A probably benign Het
Man1b1 C G 2: 25,222,867 (GRCm39) probably benign Het
Msc G C 1: 14,825,902 (GRCm39) P24R probably damaging Het
Mylk A G 16: 34,732,522 (GRCm39) K601E probably benign Het
Myzap A G 9: 71,499,563 (GRCm39) probably benign Het
Ncor2 A T 5: 125,179,705 (GRCm39) probably null Het
Nrxn3 T C 12: 90,171,515 (GRCm39) S276P probably damaging Het
Or1j16 T C 2: 36,530,233 (GRCm39) F61L probably damaging Het
Or4c114 T C 2: 88,905,382 (GRCm39) N18D probably benign Het
Or4d6 T C 19: 12,086,547 (GRCm39) probably null Het
Or51b4 G A 7: 103,530,956 (GRCm39) P165S probably benign Het
Or6c202 G A 10: 128,996,383 (GRCm39) L157F probably benign Het
Or8c13 A G 9: 38,091,666 (GRCm39) M151T probably damaging Het
Or8d1 T C 9: 38,766,927 (GRCm39) S190P probably damaging Het
Pramel5 T C 4: 143,997,915 (GRCm39) K443E possibly damaging Het
Rock2 C T 12: 17,021,276 (GRCm39) Q1019* probably null Het
Rps18-ps3 T A 8: 107,989,762 (GRCm39) noncoding transcript Het
Sis T C 3: 72,835,492 (GRCm39) probably null Het
Slc22a21 T A 11: 53,846,839 (GRCm39) I345F probably benign Het
Sox5 A G 6: 143,790,491 (GRCm39) M523T possibly damaging Het
Taf1c T C 8: 120,326,361 (GRCm39) K526R probably benign Het
Taf2 T C 15: 54,922,276 (GRCm39) D337G possibly damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmem9 A G 1: 135,955,234 (GRCm39) T123A probably benign Het
Trim69 A G 2: 122,009,080 (GRCm39) Y380C probably damaging Het
Vldlr G T 19: 27,212,219 (GRCm39) V78L probably damaging Het
Vmn1r68 A T 7: 10,261,275 (GRCm39) N274K probably benign Het
Vmn2r104 G T 17: 20,262,503 (GRCm39) S209Y probably damaging Het
Vmn2r108 T A 17: 20,682,990 (GRCm39) N738I probably damaging Het
Wnt3 A G 11: 103,703,450 (GRCm39) D311G probably damaging Het
Yme1l1 T C 2: 23,076,344 (GRCm39) probably null Het
Zcchc14 C T 8: 122,378,498 (GRCm39) probably benign Het
Zfp148 T C 16: 33,316,602 (GRCm39) Y383H probably damaging Het
Zfp41 A G 15: 75,490,368 (GRCm39) R107G probably damaging Het
Other mutations in Tbx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01722:Tbx4 APN 11 85,802,769 (GRCm39) missense probably damaging 1.00
IGL02113:Tbx4 APN 11 85,803,090 (GRCm39) missense possibly damaging 0.82
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
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
Predicted Primers PCR Primer
(F):5'- GATCACCCAGCTGAAAATTGAG -3'
(R):5'- GCTTCAGGCAGTGGTAGAAG -3'

Sequencing Primer
(F):5'- ATTGAGAACAACCCTTTTGCCAAGG -3'
(R):5'- TAGAAGAGGCTGGAGTCCCTCTG -3'
Posted On 2015-07-21