Incidental Mutation 'IGL02553:Tbx1'
ID 298557
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbx1
Ensembl Gene ENSMUSG00000009097
Gene Name T-box 1
Synonyms nmf219
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02553
Quality Score
Status
Chromosome 16
Chromosomal Location 18399729-18409412 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 18402847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 222 (D222V)
Ref Sequence ENSEMBL: ENSMUSP00000156061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009241] [ENSMUST00000232143] [ENSMUST00000232335] [ENSMUST00000232589]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000009241
AA Change: D213V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000009241
Gene: ENSMUSG00000009097
AA Change: D213V

DomainStartEndE-ValueType
TBOX 107 300 3.08e-127 SMART
low complexity region 365 391 N/A INTRINSIC
Blast:TBOX 400 422 1e-6 BLAST
low complexity region 440 480 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000232143
Predicted Effect probably damaging
Transcript: ENSMUST00000232335
AA Change: D222V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232557
Predicted Effect probably benign
Transcript: ENSMUST00000232589
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 product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display neonatal lethality, persistent truncus arteriosis, abnormal aortic arch, abnormal inner, middle, and outer ear morphology, abnormal lymphangiogenesis, and abnormal cranial base morphology. Heterozygous null mice display abnormal fourth aortic arch arteries. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,242,750 (GRCm39) S1326P probably damaging Het
Alpk1 A T 3: 127,466,970 (GRCm39) L1103Q probably damaging Het
Arhgap11a A C 2: 113,667,906 (GRCm39) probably benign Het
Arl6ip6 A G 2: 53,082,226 (GRCm39) Y31C possibly damaging Het
Arpin G T 7: 79,577,395 (GRCm39) D217E possibly damaging Het
Atp13a4 C T 16: 29,241,521 (GRCm39) V735I probably benign Het
Ccdc146 A T 5: 21,502,631 (GRCm39) F753L probably benign Het
Cdh3 T A 8: 107,270,880 (GRCm39) L511* probably null Het
Chrna1 A T 2: 73,397,206 (GRCm39) I361N possibly damaging Het
Clk2 G A 3: 89,083,020 (GRCm39) R432H probably damaging Het
Col9a1 T C 1: 24,261,018 (GRCm39) probably benign Het
Cstf1 G T 2: 172,219,774 (GRCm39) R295L probably benign Het
Dsg2 A G 18: 20,725,467 (GRCm39) D526G probably damaging Het
Dsg4 T A 18: 20,595,577 (GRCm39) H593Q probably benign Het
Dysf T C 6: 84,107,109 (GRCm39) Y1171H possibly damaging Het
Erbb4 A G 1: 68,345,023 (GRCm39) L566P probably benign Het
Fam185a T A 5: 21,660,829 (GRCm39) D281E probably damaging Het
Fam185a T A 5: 21,634,839 (GRCm39) probably benign Het
Fam91a1 T A 15: 58,304,831 (GRCm39) probably null Het
Fat2 A G 11: 55,202,109 (GRCm39) W322R probably damaging Het
Fbxw8 T A 5: 118,204,125 (GRCm39) probably benign Het
Ganc A G 2: 120,288,615 (GRCm39) T874A probably benign Het
Gm3543 T C 14: 41,802,048 (GRCm39) I145M probably benign Het
Gtf2i G A 5: 134,274,015 (GRCm39) T712I probably damaging Het
Hk1 A G 10: 62,131,552 (GRCm39) S268P possibly damaging Het
Hmcn1 A G 1: 150,868,774 (GRCm39) V10A probably benign Het
Hsd17b4 C T 18: 50,295,164 (GRCm39) probably benign Het
Ighv1-75 A T 12: 115,797,725 (GRCm39) W66R probably damaging Het
Kif21b G T 1: 136,081,859 (GRCm39) D636Y probably damaging Het
Kif5b A T 18: 6,220,914 (GRCm39) I398N probably benign Het
Metap2 T C 10: 93,701,311 (GRCm39) M165V probably damaging Het
Mterf2 A C 10: 84,956,331 (GRCm39) L98V probably damaging Het
Muc16 A G 9: 18,409,849 (GRCm39) probably null Het
Myo3b A G 2: 69,925,568 (GRCm39) M12V probably benign Het
Nat10 C A 2: 103,583,013 (GRCm39) R136I probably damaging Het
Nsd2 T G 5: 34,003,542 (GRCm39) S231A probably damaging Het
Or4a71 T C 2: 89,358,275 (GRCm39) T160A probably benign Het
Or4k37 A T 2: 111,159,333 (GRCm39) M190L probably benign Het
Pcdhb14 T A 18: 37,581,071 (GRCm39) L59* probably null Het
Pias4 A G 10: 80,999,621 (GRCm39) L144P probably damaging Het
Plxna2 T A 1: 194,433,746 (GRCm39) N598K probably benign Het
Polq A G 16: 36,862,130 (GRCm39) Y550C probably damaging Het
Pot1b T A 17: 56,002,024 (GRCm39) probably benign Het
Proz T C 8: 13,115,260 (GRCm39) V92A probably benign Het
Rab4a T C 8: 124,550,561 (GRCm39) F14L probably benign Het
Riok3 T A 18: 12,276,073 (GRCm39) C256* probably null Het
Slc6a1 T A 6: 114,279,451 (GRCm39) probably benign Het
Socs5 C T 17: 87,442,419 (GRCm39) T453M probably damaging Het
Spata3 T C 1: 85,952,211 (GRCm39) L135P probably damaging Het
Spata46 A G 1: 170,139,534 (GRCm39) K178E probably damaging Het
Spr T C 6: 85,114,430 (GRCm39) N100D probably damaging Het
Srrm4 C T 5: 116,582,624 (GRCm39) probably benign Het
Stard3 T C 11: 98,267,389 (GRCm39) F169S possibly damaging Het
Trbv23 C T 6: 41,193,279 (GRCm39) Q56* probably null Het
Tsc22d1 A G 14: 76,654,838 (GRCm39) N357S possibly damaging Het
Ugt1a6a C T 1: 88,066,811 (GRCm39) P206S probably benign Het
Utp20 A G 10: 88,600,657 (GRCm39) V19A probably damaging Het
Vps13b A G 15: 35,646,447 (GRCm39) N1517S probably benign Het
Washc2 T C 6: 116,218,571 (GRCm39) I672T probably damaging Het
Other mutations in Tbx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02170:Tbx1 APN 16 18,401,552 (GRCm39) missense probably benign 0.16
R0587:Tbx1 UTSW 16 18,402,243 (GRCm39) missense possibly damaging 0.89
R1539:Tbx1 UTSW 16 18,402,843 (GRCm39) missense probably benign 0.10
R1785:Tbx1 UTSW 16 18,403,879 (GRCm39) missense probably damaging 1.00
R2267:Tbx1 UTSW 16 18,400,744 (GRCm39) splice site probably null
R2269:Tbx1 UTSW 16 18,400,744 (GRCm39) splice site probably null
R6125:Tbx1 UTSW 16 18,402,216 (GRCm39) missense probably damaging 1.00
R7036:Tbx1 UTSW 16 18,405,551 (GRCm39) missense unknown
R7842:Tbx1 UTSW 16 18,405,365 (GRCm39) missense unknown
R8048:Tbx1 UTSW 16 18,406,769 (GRCm39) start codon destroyed probably null
R8350:Tbx1 UTSW 16 18,400,795 (GRCm39) missense unknown
R8450:Tbx1 UTSW 16 18,400,795 (GRCm39) missense unknown
R8979:Tbx1 UTSW 16 18,406,745 (GRCm39) missense unknown
R8992:Tbx1 UTSW 16 18,402,937 (GRCm39) missense probably damaging 1.00
R9662:Tbx1 UTSW 16 18,400,882 (GRCm39) missense unknown
Z1177:Tbx1 UTSW 16 18,405,509 (GRCm39) missense unknown
Posted On 2015-04-16