Incidental Mutation 'R4713:Tbx10'
ID 353407
Institutional Source Beutler Lab
Gene Symbol Tbx10
Ensembl Gene ENSMUSG00000037477
Gene Name T-box 10
Synonyms Tbx13, Tbx7
MMRRC Submission 041601-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R4713 (G1)
Quality Score 167
Status Not validated
Chromosome 19
Chromosomal Location 4042752-4049512 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4046921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 108 (L108P)
Ref Sequence ENSEMBL: ENSMUSP00000037401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025802] [ENSMUST00000041871] [ENSMUST00000122924] [ENSMUST00000155405]
AlphaFold Q810F8
Predicted Effect probably benign
Transcript: ENSMUST00000025802
SMART Domains Protein: ENSMUSP00000025802
Gene: ENSMUSG00000110949

DomainStartEndE-ValueType
Pfam:NUDIX 26 160 2.8e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000041871
AA Change: L108P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037401
Gene: ENSMUSG00000037477
AA Change: L108P

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: ENSMUST00000122924
SMART Domains Protein: ENSMUSP00000122531
Gene: ENSMUSG00000110949

DomainStartEndE-ValueType
Pfam:NUDIX 19 117 3.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155405
SMART Domains Protein: ENSMUSP00000119218
Gene: ENSMUSG00000024869

DomainStartEndE-ValueType
Pfam:NUDIX 29 159 8.1e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156285
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,586,613 (GRCm39) T360K probably damaging Het
AW551984 T C 9: 39,508,449 (GRCm39) K356E probably benign Het
Bpifb2 T A 2: 153,723,113 (GRCm39) V123E probably damaging Het
Cacna1a T G 8: 85,276,143 (GRCm39) F532V probably damaging Het
Cct8 C A 16: 87,284,576 (GRCm39) E204* probably null Het
Cd163 T A 6: 124,294,577 (GRCm39) probably null Het
Cep152 C A 2: 125,429,868 (GRCm39) A685S possibly damaging Het
Chdh A G 14: 29,758,798 (GRCm39) D581G probably benign Het
Cnpy3 A C 17: 47,058,391 (GRCm39) Y77* probably null Het
Col5a3 T C 9: 20,704,870 (GRCm39) E762G unknown Het
Creb3 A G 4: 43,563,247 (GRCm39) T115A probably benign Het
Dlat G T 9: 50,555,781 (GRCm39) A412E probably benign Het
Dnah2 T C 11: 69,367,514 (GRCm39) N1789S probably damaging Het
Dzank1 C T 2: 144,333,724 (GRCm39) E370K probably benign Het
Eif3m A T 2: 104,837,184 (GRCm39) probably null Het
Gimap8 A T 6: 48,635,920 (GRCm39) M562L probably benign Het
Gprc6a T A 10: 51,507,553 (GRCm39) probably benign Het
Gsr T G 8: 34,170,347 (GRCm39) probably null Het
Gstcd A G 3: 132,688,860 (GRCm39) V630A probably damaging Het
Hip1r T C 5: 124,128,043 (GRCm39) I116T probably benign Het
Hivep3 A G 4: 119,989,000 (GRCm39) E1817G probably damaging Het
Inpp5f A C 7: 128,265,449 (GRCm39) T135P probably damaging Het
Ism2 A G 12: 87,331,801 (GRCm39) silent Het
Itga11 A G 9: 62,673,070 (GRCm39) D784G probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Itpr2 T C 6: 146,298,456 (GRCm39) E10G probably damaging Het
Knl1 A T 2: 118,899,618 (GRCm39) K440* probably null Het
Lonp2 T C 8: 87,439,943 (GRCm39) S648P probably damaging Het
Lrba T C 3: 86,267,175 (GRCm39) S1622P probably benign Het
Lrp2 G T 2: 69,318,310 (GRCm39) A2047D probably damaging Het
Mcm3 G A 1: 20,873,801 (GRCm39) T773I probably benign Het
Mki67 A G 7: 135,297,198 (GRCm39) V2612A probably benign Het
Mnx1 C A 5: 29,683,129 (GRCm39) G49W probably damaging Het
Muc5b T A 7: 141,402,816 (GRCm39) Y673* probably null Het
Myo15a A G 11: 60,370,756 (GRCm39) H1172R probably benign Het
Myo1g T C 11: 6,466,080 (GRCm39) K363R probably null Het
Ncoa4 T A 14: 31,898,598 (GRCm39) C473S probably benign Het
Nefh T C 11: 4,889,656 (GRCm39) T988A unknown Het
Nwd2 T A 5: 63,961,803 (GRCm39) D462E probably benign Het
Or2av9 T C 11: 58,380,913 (GRCm39) T223A probably benign Het
Pira13 G T 7: 3,825,680 (GRCm39) Y396* probably null Het
Plec T C 15: 76,065,267 (GRCm39) E1466G unknown Het
Prl3d2 G T 13: 27,306,379 (GRCm39) M35I probably benign Het
Reln T A 5: 22,357,461 (GRCm39) I202F probably benign Het
Rhot1 T A 11: 80,116,428 (GRCm39) D78E probably benign Het
Rsph3b T C 17: 7,172,528 (GRCm39) probably null Het
Scn10a C T 9: 119,438,717 (GRCm39) M1717I probably damaging Het
Sema6a T A 18: 47,382,363 (GRCm39) H728L possibly damaging Het
Slc26a3 G T 12: 31,507,079 (GRCm39) A345S possibly damaging Het
Slc35d2 A G 13: 64,247,097 (GRCm39) V261A possibly damaging Het
Slc49a3 T C 5: 108,589,945 (GRCm39) T486A probably damaging Het
Ssmem1 A G 6: 30,519,513 (GRCm39) D66G probably damaging Het
Sult2a8 A T 7: 14,159,402 (GRCm39) N72K probably benign Het
Tex14 T C 11: 87,427,691 (GRCm39) S48P probably damaging Het
Tmie A G 9: 110,696,596 (GRCm39) L95P probably damaging Het
Tom1l2 C G 11: 60,161,259 (GRCm39) R84P probably damaging Het
Trpm3 T A 19: 22,866,799 (GRCm39) D543E possibly damaging Het
Vipr2 A C 12: 116,043,751 (GRCm39) R49S probably benign Het
Vps8 A T 16: 21,261,189 (GRCm39) S110C probably damaging Het
Zfp791 T A 8: 85,837,597 (GRCm39) N89I 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
R0105:Tbx10 UTSW 19 4,043,121 (GRCm39) unclassified probably benign
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
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'- TGGGAAGAGTTCAACCAGCTG -3'
(R):5'- CACCTGGTGGGCATCATTTG -3'

Sequencing Primer
(F):5'- TGGGCACAGAGATGATTGTCACC -3'
(R):5'- GCCTCAGGCTAGCCCATTC -3'
Posted On 2015-10-21