Incidental Mutation 'R0105:Tbx10'
ID 33292
Institutional Source Beutler Lab
Gene Symbol Tbx10
Ensembl Gene ENSMUSG00000037477
Gene Name T-box 10
Synonyms Tbx13, Tbx7
MMRRC Submission 038391-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R0105 (G1)
Quality Score 156
Status Validated (trace)
Chromosome 19
Chromosomal Location 4042752-4049512 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 4043121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000050056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041871] [ENSMUST00000054030]
AlphaFold Q810F8
PDB Structure Crystal structure of murine aminoacylase 3 in complex with N-acetyl-L-tyrosine [X-RAY DIFFRACTION]
Crystal structure of murine aminoacylase 3 [X-RAY DIFFRACTION]
Crystal structure of E177A-mutant murine aminoacylase 3 [X-RAY DIFFRACTION]
Crystal structure of murine aminoacylase 3 in complex with N-acetyl-S-1,2-dichlorovinyl-L-cysteine [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000041871
SMART Domains Protein: ENSMUSP00000037401
Gene: ENSMUSG00000037477

DomainStartEndE-ValueType
TBOX 64 257 9.2e-117 SMART
low complexity region 309 320 N/A INTRINSIC
low complexity region 331 351 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000054030
SMART Domains Protein: ENSMUSP00000050056
Gene: ENSMUSG00000024866

DomainStartEndE-ValueType
Pfam:AstE_AspA 10 300 1.6e-77 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 100% (70/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a gain of function mutation die perinatally with cleft lip and cleft palate; heterozygotes show penetrance and strain effects - they generally circle and head-toss, but are not deaf, lack the macula of utriculus and show defects of the labyrinths in the vestibular region. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted(5) Spontaneous(1)
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik G A 6: 133,271,277 (GRCm39) R107K probably benign Het
A530053G22Rik T C 6: 60,379,137 (GRCm39) noncoding transcript Het
Adcy9 A G 16: 4,106,252 (GRCm39) V954A probably damaging Het
Aldh8a1 T A 10: 21,271,438 (GRCm39) M388K probably damaging Het
Ankhd1 A G 18: 36,779,819 (GRCm39) I1720M probably damaging Het
Atp6v0a4 T C 6: 38,030,064 (GRCm39) probably benign Het
C1qtnf4 T A 2: 90,720,707 (GRCm39) *327R probably null Het
C1s1 T C 6: 124,518,277 (GRCm39) probably benign Het
Cdsn A C 17: 35,867,035 (GRCm39) R521S possibly damaging Het
Cgnl1 T C 9: 71,563,384 (GRCm39) M848V probably benign Het
Cog3 A G 14: 75,959,580 (GRCm39) S591P probably damaging Het
Col6a3 A G 1: 90,725,883 (GRCm39) V1375A possibly damaging Het
Cplane1 T A 15: 8,216,876 (GRCm39) V698D probably benign Het
Cr1l A G 1: 194,794,720 (GRCm39) probably benign Het
Crmp1 T A 5: 37,441,479 (GRCm39) D520E probably damaging Het
Ctdspl2 T A 2: 121,807,801 (GRCm39) probably benign Het
Dnah6 C T 6: 73,132,262 (GRCm39) A1147T probably damaging Het
Dsg2 T C 18: 20,735,111 (GRCm39) S1030P probably benign Het
Elavl3 C A 9: 21,948,129 (GRCm39) V12F possibly damaging Het
Fam20b T C 1: 156,518,140 (GRCm39) E218G probably damaging Het
Fam227a T C 15: 79,505,033 (GRCm39) D466G possibly damaging Het
Fto G A 8: 92,249,430 (GRCm39) E421K probably damaging Het
Gab2 T C 7: 96,948,279 (GRCm39) Y290H probably damaging Het
Gm973 A G 1: 59,621,633 (GRCm39) Q591R probably null Het
Gsdmc2 T C 15: 63,700,026 (GRCm39) T249A probably benign Het
Il15ra T A 2: 11,735,459 (GRCm39) probably null Het
Il1rl1 CTTGTTGTTGTTGTTGTTG CTTGTTGTTGTTGTTGTTGTTG 1: 40,481,734 (GRCm39) probably benign Het
Il6ra A G 3: 89,784,125 (GRCm39) I382T probably damaging Het
Isy1 G A 6: 87,796,167 (GRCm39) R257W probably damaging Het
Krt76 T C 15: 101,793,347 (GRCm39) T564A unknown Het
Lhpp T C 7: 132,232,254 (GRCm39) S57P probably damaging Het
Lrrk1 G T 7: 65,942,089 (GRCm39) D716E probably damaging Het
Mcm3ap T A 10: 76,335,368 (GRCm39) D1263E probably damaging Het
Mogat1 A G 1: 78,500,307 (GRCm39) T124A probably benign Het
Mroh7 T C 4: 106,568,467 (GRCm39) T48A possibly damaging Het
Nccrp1 T C 7: 28,246,463 (GRCm39) D33G probably benign Het
Neurog1 G T 13: 56,399,050 (GRCm39) D232E probably benign Het
Or4a71 T C 2: 89,358,707 (GRCm39) T16A probably benign Het
Or4c105 T A 2: 88,648,253 (GRCm39) V246D probably damaging Het
Otog C A 7: 45,937,790 (GRCm39) T1833K possibly damaging Het
Perm1 C A 4: 156,302,682 (GRCm39) H409N probably benign Het
Pik3r5 A T 11: 68,381,337 (GRCm39) E174D probably damaging Het
Pkhd1 G A 1: 20,593,956 (GRCm39) Q1386* probably null Het
Pla2r1 T C 2: 60,345,325 (GRCm39) R344G possibly damaging Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Plekhg4 G A 8: 106,108,644 (GRCm39) V1202M possibly damaging Het
Ppil4 A G 10: 7,674,210 (GRCm39) Y118C probably damaging Het
Prrc2b G T 2: 32,103,323 (GRCm39) E934* probably null Het
Psmb9 A G 17: 34,406,249 (GRCm39) F12S probably benign Het
Ptdss2 T C 7: 140,732,793 (GRCm39) W183R probably damaging Het
Ptpn4 C T 1: 119,615,335 (GRCm39) probably null Het
Reln G A 5: 22,253,813 (GRCm39) R600W probably damaging Het
Scml4 T A 10: 42,806,595 (GRCm39) V161E probably damaging Het
Sdcbp2 A T 2: 151,431,478 (GRCm39) T284S probably benign Het
Slc22a29 T C 19: 8,137,991 (GRCm39) probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Spen T C 4: 141,197,121 (GRCm39) probably benign Het
Sumf2 T A 5: 129,878,735 (GRCm39) probably benign Het
Tex10 C A 4: 48,468,957 (GRCm39) V73F probably damaging Het
Tgm5 C A 2: 120,907,493 (GRCm39) G77W probably damaging Het
Tnfrsf21 T A 17: 43,351,082 (GRCm39) probably null Het
Treml2 C T 17: 48,609,856 (GRCm39) T96I probably damaging Het
Trim65 T C 11: 116,016,892 (GRCm39) *523W probably null Het
Zcchc17 T A 4: 130,243,099 (GRCm39) D28V probably benign Het
Zhx2 T C 15: 57,686,091 (GRCm39) F487L probably damaging Het
Zkscan6 T A 11: 65,712,811 (GRCm39) L248Q probably damaging Het
Other mutations in Tbx10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01527:Tbx10 APN 19 4,048,227 (GRCm39) missense probably damaging 1.00
IGL01597:Tbx10 APN 19 4,046,736 (GRCm39) missense probably benign 0.00
IGL02006:Tbx10 APN 19 4,048,186 (GRCm39) missense probably damaging 1.00
IGL03294:Tbx10 APN 19 4,048,571 (GRCm39) unclassified probably benign
R0051:Tbx10 UTSW 19 4,046,798 (GRCm39) critical splice donor site probably null
R0626:Tbx10 UTSW 19 4,047,873 (GRCm39) missense probably benign 0.42
R1265:Tbx10 UTSW 19 4,046,625 (GRCm39) missense probably damaging 0.97
R4713:Tbx10 UTSW 19 4,046,921 (GRCm39) missense probably damaging 1.00
R6337:Tbx10 UTSW 19 4,047,312 (GRCm39) nonsense probably null
R7021:Tbx10 UTSW 19 4,048,961 (GRCm39) missense probably benign
R7476:Tbx10 UTSW 19 4,049,034 (GRCm39) missense probably benign 0.00
R7549:Tbx10 UTSW 19 4,046,651 (GRCm39) missense probably benign 0.02
R8768:Tbx10 UTSW 19 4,047,303 (GRCm39) missense probably damaging 1.00
Z1177:Tbx10 UTSW 19 4,048,186 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAAGCCTCAGCCAGGAAGTCG -3'
(R):5'- TGGAAGGAGAATACCAGCTCCACAG -3'

Sequencing Primer
(F):5'- CAGCCAGGAAGTCGGACAG -3'
(R):5'- cctctgacccccacgaac -3'
Posted On 2013-05-09