Incidental Mutation 'R5484:Tbx4'
ID 430325
Institutional Source Beutler Lab
Gene Symbol Tbx4
Ensembl Gene ENSMUSG00000000094
Gene Name T-box 4
Synonyms
MMRRC Submission 043045-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5484 (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 85805230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 440 (T440A)
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: T440A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000000096
Gene: ENSMUSG00000000094
AA Change: T440A

DomainStartEndE-ValueType
TBOX 71 261 1.15e-126 SMART
Blast:TBOX 302 495 1e-122 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000108045
AA Change: T340A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103680
Gene: ENSMUSG00000000094
AA Change: T340A

DomainStartEndE-ValueType
TBOX 1 161 5e-86 SMART
Blast:TBOX 202 395 1e-122 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000108047
AA Change: T440A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103682
Gene: ENSMUSG00000000094
AA Change: T440A

DomainStartEndE-ValueType
TBOX 71 261 1.15e-126 SMART
Blast:TBOX 302 495 1e-122 BLAST
Meta Mutation Damage Score 0.0922 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.4%
Validation Efficiency 97% (76/78)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,313,851 (GRCm39) H609R probably benign Het
Abca6 A T 11: 110,074,899 (GRCm39) V1388E probably damaging Het
Alx1 T A 10: 102,861,177 (GRCm39) D117V probably damaging Het
Ascl4 T C 10: 85,764,401 (GRCm39) L16P probably damaging Het
Atp4a G A 7: 30,420,097 (GRCm39) probably benign Het
Btnl10 G A 11: 58,814,651 (GRCm39) V444M probably damaging Het
Camkv A T 9: 107,823,345 (GRCm39) N124Y probably damaging Het
Catsperb T C 12: 101,542,175 (GRCm39) L625P probably benign Het
Ccdc171 A G 4: 83,612,199 (GRCm39) I973V probably benign Het
Celsr1 T C 15: 85,815,483 (GRCm39) D1844G probably benign Het
Chd7 G C 4: 8,828,258 (GRCm39) K1066N probably damaging Het
Cmklr1 C G 5: 113,752,990 (GRCm39) D4H possibly damaging Het
Corin T C 5: 72,515,827 (GRCm39) D409G probably benign Het
Cry1 T C 10: 84,982,588 (GRCm39) probably null Het
Cttnbp2 T A 6: 18,427,689 (GRCm39) probably benign Het
Cyrib T A 15: 63,815,056 (GRCm39) T139S probably damaging Het
Dmxl1 T A 18: 50,022,531 (GRCm39) V1623E probably damaging Het
Dnah6 G T 6: 73,069,099 (GRCm39) D2477E possibly damaging Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dop1a C G 9: 86,427,341 (GRCm39) R2164G probably damaging Het
Dsp A G 13: 38,368,014 (GRCm39) T678A possibly damaging Het
Farsb A C 1: 78,452,833 (GRCm39) I51S probably damaging Het
Gm10220 T A 5: 26,322,930 (GRCm39) I161L possibly damaging Het
Gm10782 G T 13: 56,510,987 (GRCm39) noncoding transcript Het
Gm12830 A T 4: 114,702,248 (GRCm39) T137S unknown Het
Gopc A G 10: 52,234,942 (GRCm39) L67P probably damaging Het
Hmcn1 T C 1: 150,551,291 (GRCm39) I2655V probably benign Het
Hmcn2 C T 2: 31,283,066 (GRCm39) Q1981* probably null Het
Ifi209 T A 1: 173,468,640 (GRCm39) S157T probably benign Het
Ift56 T G 6: 38,366,057 (GRCm39) C124W probably benign Het
Iqcf1 A T 9: 106,379,107 (GRCm39) I74F probably damaging Het
Irf3 A T 7: 44,649,382 (GRCm39) R78W probably damaging Het
Kank4 T C 4: 98,663,022 (GRCm39) D722G probably benign Het
Loxl1 A G 9: 58,198,065 (GRCm39) V597A possibly damaging Het
Marveld1 T C 19: 42,136,272 (GRCm39) L62P probably damaging Het
Mga T G 2: 119,747,107 (GRCm39) D419E possibly damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Mroh2b A G 15: 4,938,463 (GRCm39) K251E possibly damaging Het
Myh4 A G 11: 67,142,644 (GRCm39) E935G probably damaging Het
Nat8f2 C A 6: 85,844,994 (GRCm39) A123S possibly damaging Het
Niban1 A G 1: 151,593,837 (GRCm39) T841A probably benign Het
Or4d11 G A 19: 12,013,192 (GRCm39) L305F probably benign Het
Pcdha9 T A 18: 37,131,156 (GRCm39) V75E probably damaging Het
Pebp4 A T 14: 70,200,991 (GRCm39) probably null Het
Pitx1 A G 13: 55,974,166 (GRCm39) S222P probably benign Het
Plekhg3 G A 12: 76,625,174 (GRCm39) V1339M possibly damaging Het
Plekhs1 C T 19: 56,468,260 (GRCm39) S276L possibly damaging Het
Plin4 T C 17: 56,411,932 (GRCm39) T700A possibly damaging Het
Plxnb2 T C 15: 89,048,412 (GRCm39) probably null Het
Pms2 T C 5: 143,864,943 (GRCm39) I675T probably damaging Het
Polrmt A G 10: 79,577,888 (GRCm39) L268P probably damaging Het
Rtp1 A G 16: 23,248,025 (GRCm39) T33A probably benign Het
Safb2 T C 17: 56,882,346 (GRCm39) probably benign Het
Sdk1 C A 5: 142,085,941 (GRCm39) P1383Q probably damaging Het
Setdb1 A T 3: 95,244,569 (GRCm39) C758S probably damaging Het
Sh3gl2 T C 4: 85,317,160 (GRCm39) probably benign Het
Slc13a2 G A 11: 78,295,648 (GRCm39) probably benign Het
Slc35b1 T C 11: 95,278,631 (GRCm39) Y126H probably damaging Het
Strip2 C A 6: 29,917,154 (GRCm39) probably benign Het
Tcf7l2 C A 19: 55,907,940 (GRCm39) probably null Het
Tgfb1 A C 7: 25,387,574 (GRCm39) D94A probably benign Het
Tmem132b T C 5: 125,864,797 (GRCm39) C968R probably damaging Het
Tmem176b T A 6: 48,811,467 (GRCm39) M61L probably benign Het
Tmem258 A G 19: 10,184,689 (GRCm39) probably null Het
Tpr T C 1: 150,302,639 (GRCm39) L1379S probably benign Het
Vmn2r44 T C 7: 8,383,123 (GRCm39) D157G possibly damaging Het
Wfdc8 T C 2: 164,439,649 (GRCm39) I244M probably benign Het
Zfp341 T C 2: 154,466,921 (GRCm39) S97P probably benign Het
Zfp655 T C 5: 145,180,445 (GRCm39) V101A probably benign Het
Zfp788 T C 7: 41,299,277 (GRCm39) S586P probably damaging Het
Zfp874b C T 13: 67,629,373 (GRCm39) V52I possibly 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
R4470:Tbx4 UTSW 11 85,802,948 (GRCm39) missense probably damaging 0.98
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'- GGGACGATCACTATTTCCGTTC -3'
(R):5'- ACGCTCTCTAGGGAAGGAAG -3'

Sequencing Primer
(F):5'- TCCCTACGACCAGCAGATG -3'
(R):5'- CTCTCTAGGGAAGGAAGCAGAG -3'
Posted On 2016-10-05