Incidental Mutation 'E0370:Tbx22'
ID 206427
Institutional Source Beutler Lab
Gene Symbol Tbx22
Ensembl Gene ENSMUSG00000031241
Gene Name T-box 22
Synonyms D230020M15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # E0370 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 106711570-106732584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106728759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 430 (I430T)
Ref Sequence ENSEMBL: ENSMUSP00000128247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068451] [ENSMUST00000118986] [ENSMUST00000168174] [ENSMUST00000168403] [ENSMUST00000172682]
AlphaFold Q8K402
Predicted Effect probably benign
Transcript: ENSMUST00000068451
AA Change: I214T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000063611
Gene: ENSMUSG00000031241
AA Change: I214T

DomainStartEndE-ValueType
Pfam:T-box 3 79 6.9e-30 PFAM
low complexity region 112 141 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118986
AA Change: I416T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000112544
Gene: ENSMUSG00000031241
AA Change: I416T

DomainStartEndE-ValueType
low complexity region 32 46 N/A INTRINSIC
low complexity region 74 87 N/A INTRINSIC
TBOX 88 285 5.58e-116 SMART
low complexity region 314 343 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168174
AA Change: I430T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000128247
Gene: ENSMUSG00000031241
AA Change: I430T

DomainStartEndE-ValueType
low complexity region 46 60 N/A INTRINSIC
low complexity region 88 101 N/A INTRINSIC
TBOX 102 299 5.58e-116 SMART
low complexity region 328 357 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168403
AA Change: I214T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127321
Gene: ENSMUSG00000031241
AA Change: I214T

DomainStartEndE-ValueType
Pfam:T-box 3 79 6.9e-30 PFAM
low complexity region 112 141 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172682
SMART Domains Protein: ENSMUSP00000133607
Gene: ENSMUSG00000031241

DomainStartEndE-ValueType
low complexity region 46 60 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.1%
Validation Efficiency 100% (33/33)
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. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Half of homozygous female and hemizygous male null mice die neonatally due to breathing or feeding deficits, and show reduced bone formation in the posterior hard palate leading to submucous cleft palate, ankyloglossia, persistent oro-nasal membranes andoccasional overt clefts and choanal atresia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik TGCAGCGACTGGACGGCGGCA TGCA 11: 70,507,252 (GRCm39) probably null Het
Aire T A 10: 77,877,897 (GRCm39) N180I probably damaging Het
Asic3 G T 5: 24,618,985 (GRCm39) L92F probably damaging Het
Birc6 G A 17: 74,984,352 (GRCm39) D4455N probably damaging Het
Cd36 A T 5: 17,990,747 (GRCm39) C464* probably null Het
Cdx1 A C 18: 61,153,501 (GRCm39) I179S probably damaging Het
Dnah2 A T 11: 69,406,441 (GRCm39) probably null Het
Dst A T 1: 34,288,552 (GRCm39) probably benign Het
Epb41l3 A G 17: 69,581,799 (GRCm39) N580S possibly damaging Het
Hnrnpm A T 17: 33,877,896 (GRCm39) probably benign Het
Katnip A G 7: 125,449,474 (GRCm39) D846G probably benign Het
Map2 A T 1: 66,455,883 (GRCm39) probably benign Het
Mapk11 T C 15: 89,030,716 (GRCm39) D88G probably damaging Het
Mbd4 C T 6: 115,826,116 (GRCm39) E271K possibly damaging Het
Mpp4 T G 1: 59,178,917 (GRCm39) probably benign Het
Mtarc1 T C 1: 184,527,425 (GRCm39) probably benign Het
Muc2 T C 7: 141,282,598 (GRCm39) Y609H probably damaging Het
Or8b3b A T 9: 38,583,857 (GRCm39) D307E probably damaging Het
Pex1 T A 5: 3,681,614 (GRCm39) probably null Het
Prdm11 T C 2: 92,810,924 (GRCm39) Y225C probably damaging Het
Psmc3 T A 2: 90,885,463 (GRCm39) probably null Het
Slc26a8 A T 17: 28,861,361 (GRCm39) D774E possibly damaging Het
Slc9a2 A T 1: 40,802,701 (GRCm39) probably null Het
Smc1b A G 15: 85,011,782 (GRCm39) Y168H probably damaging Het
Steap1 T C 5: 5,790,673 (GRCm39) R92G probably damaging Het
Tfap4 T A 16: 4,377,334 (GRCm39) H16L possibly damaging Het
Tnxb A G 17: 34,897,917 (GRCm39) D855G probably damaging Het
Trip13 A G 13: 74,068,558 (GRCm39) probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn2r121 A G X: 123,037,617 (GRCm39) V801A probably benign Het
Wiz C T 17: 32,574,092 (GRCm39) R935Q probably damaging Het
Other mutations in Tbx22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02427:Tbx22 APN X 106,724,777 (GRCm39) missense probably damaging 1.00
PIT1430001:Tbx22 UTSW X 106,720,611 (GRCm39) missense probably damaging 0.99
R0714:Tbx22 UTSW X 106,728,731 (GRCm39) missense probably benign 0.45
Z1177:Tbx22 UTSW X 106,711,713 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- GCTCCTTTGGGATGACCTATC -3'
(R):5'- TTCCAGTCTAGGTGGCATGGAG -3'

Sequencing Primer
(F):5'- GATGACCTATCCAGATGCATACCTG -3'
(R):5'- AGATGGTGTACCTATAACAGCC -3'
Posted On 2014-06-23