Incidental Mutation 'R8992:Tbx1'
ID 684506
Institutional Source Beutler Lab
Gene Symbol Tbx1
Ensembl Gene ENSMUSG00000009097
Gene Name T-box 1
Synonyms nmf219
MMRRC Submission 068823-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8992 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 18399729-18409412 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 18402937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 183 (H183L)
Ref Sequence ENSEMBL: ENSMUSP00000009241 (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: H183L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000009241
Gene: ENSMUSG00000009097
AA Change: H183L

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: H192L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000232589
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd14b A G 9: 106,328,817 (GRCm39) D146G probably benign Het
Abhd6 T A 14: 8,028,282 (GRCm38) D4E probably benign Het
Atp5if1 T C 4: 132,260,685 (GRCm39) D34G probably benign Het
Bcr T C 10: 74,967,404 (GRCm39) F546S probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Ccdc141 A T 2: 76,844,739 (GRCm39) W1443R probably damaging Het
Chd7 A G 4: 8,839,589 (GRCm39) D1375G probably damaging Het
Chi3l1 A T 1: 134,115,662 (GRCm39) Q223H probably benign Het
Clcn2 A T 16: 20,531,080 (GRCm39) F260I probably damaging Het
Cpq A T 15: 33,594,381 (GRCm39) D464V probably benign Het
Crygb T C 1: 65,121,300 (GRCm39) D9G probably damaging Het
Cyp2b10 A G 7: 25,624,815 (GRCm39) K438E unknown Het
Cyp46a1 A T 12: 108,324,366 (GRCm39) D381V possibly damaging Het
Dhx40 A C 11: 86,667,582 (GRCm39) probably benign Het
Dnase2b G T 3: 146,292,717 (GRCm39) P152Q probably damaging Het
Duox1 A T 2: 122,175,186 (GRCm39) H1328L probably damaging Het
Ephb6 C T 6: 41,590,293 (GRCm39) A15V probably benign Het
Fam168b A G 1: 34,858,862 (GRCm39) F102L probably benign Het
Fam3b T A 16: 97,277,594 (GRCm39) D128V probably damaging Het
Galnt11 T G 5: 25,469,983 (GRCm39) H527Q possibly damaging Het
Gbp2b A T 3: 142,316,730 (GRCm39) R460S probably benign Het
Hdhd2 A C 18: 77,058,366 (GRCm39) S246R possibly damaging Het
Heatr1 T C 13: 12,415,995 (GRCm39) M189T probably damaging Het
Ift70a1 A T 2: 75,810,251 (GRCm39) C611S probably benign Het
Ino80 A G 2: 119,210,059 (GRCm39) S1411P possibly damaging Het
Jakmip1 A G 5: 37,274,882 (GRCm39) T467A probably benign Het
Kcnh2 A G 5: 24,536,868 (GRCm39) S239P probably benign Het
Lct T A 1: 128,228,299 (GRCm39) T1065S probably damaging Het
Lrrc66 T C 5: 73,787,227 (GRCm39) D41G probably benign Het
Mfsd2b A T 12: 4,921,490 (GRCm39) D26E probably benign Het
Myh1 A T 11: 67,096,607 (GRCm39) M333L probably benign Het
Neurl4 T C 11: 69,798,958 (GRCm39) V855A possibly damaging Het
Nfkb2 T A 19: 46,295,304 (GRCm39) V80D probably damaging Het
Nop9 T C 14: 55,983,438 (GRCm39) S70P possibly damaging Het
Or2t46 A G 11: 58,471,738 (GRCm39) S23G probably benign Het
Pcdhb14 G T 18: 37,582,231 (GRCm39) D446Y probably damaging Het
Pclo C T 5: 14,719,325 (GRCm39) A1154V unknown Het
Pdgfa G T 5: 138,971,977 (GRCm39) Q141K probably damaging Het
Plekhh1 G T 12: 79,122,307 (GRCm39) L1133F probably damaging Het
Pole A T 5: 110,471,488 (GRCm39) N1411Y possibly damaging Het
Primpol A G 8: 47,034,597 (GRCm39) probably benign Het
Psmc5 T G 11: 106,152,787 (GRCm39) V203G probably damaging Het
Ptgdr C T 14: 45,096,181 (GRCm39) C177Y probably damaging Het
Ptgir A T 7: 16,641,220 (GRCm39) I171F probably damaging Het
Ptprg T A 14: 12,154,170 (GRCm38) H630Q probably benign Het
Ptrh2 A G 11: 86,580,907 (GRCm39) T175A possibly damaging Het
Ralgapb A G 2: 158,296,197 (GRCm39) T857A probably damaging Het
Rnf24 A G 2: 131,155,197 (GRCm39) F10S possibly damaging Het
Rreb1 C A 13: 38,114,352 (GRCm39) S570R probably benign Het
Rttn A G 18: 88,995,832 (GRCm39) N205S probably benign Het
Rusc1 T C 3: 88,999,365 (GRCm39) E139G probably benign Het
Scn2a A G 2: 65,594,242 (GRCm39) N1697S probably damaging Het
Serpinb3a T A 1: 106,974,907 (GRCm39) M209L probably damaging Het
Shank3 A G 15: 89,432,888 (GRCm39) D1211G possibly damaging Het
Slc22a12 C A 19: 6,592,514 (GRCm39) R90L possibly damaging Het
Slc6a13 G A 6: 121,313,901 (GRCm39) W548* probably null Het
Srfbp1 T A 18: 52,609,392 (GRCm39) L59* probably null Het
Ss18 A T 18: 14,803,380 (GRCm39) S73T probably damaging Het
Syne1 T C 10: 5,135,508 (GRCm39) K189R probably benign Het
Szt2 G T 4: 118,239,985 (GRCm39) probably benign Het
Thop1 A G 10: 80,915,972 (GRCm39) E385G possibly damaging Het
Tmem168 C A 6: 13,602,849 (GRCm39) M172I possibly damaging Het
Tmem67 A G 4: 12,058,559 (GRCm39) Y513H probably damaging Het
Top1 A G 2: 160,562,921 (GRCm39) D709G probably damaging Het
Tprg1l A C 4: 154,242,890 (GRCm39) S247A probably damaging Het
Trim46 A G 3: 89,143,692 (GRCm39) S602P probably damaging Het
Ttc7b T C 12: 100,466,433 (GRCm39) K60E probably benign Het
Ttn G A 2: 76,714,815 (GRCm39) S8053F unknown Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Usp24 T A 4: 106,234,762 (GRCm39) H956Q probably benign Het
Vcp T C 4: 42,980,828 (GRCm39) T761A probably benign Het
Xpc G A 6: 91,477,956 (GRCm39) T309I possibly damaging Het
Zfp560 C T 9: 20,260,895 (GRCm39) M129I probably benign Het
Zpld2 G A 4: 133,929,978 (GRCm39) T109I probably damaging Het
Other mutations in Tbx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02170:Tbx1 APN 16 18,401,552 (GRCm39) missense probably benign 0.16
IGL02553:Tbx1 APN 16 18,402,847 (GRCm39) missense probably damaging 1.00
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
R9662:Tbx1 UTSW 16 18,400,882 (GRCm39) missense unknown
Z1177:Tbx1 UTSW 16 18,405,509 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AAGGCCAGCATGTCAGAAGC -3'
(R):5'- AAGCTCTCCCAGGATTCTTCTG -3'

Sequencing Primer
(F):5'- AGCATGTCAGAAGCCTGCC -3'
(R):5'- TGCCTTCTGCTCATGGACGG -3'
Posted On 2021-10-11