Incidental Mutation 'R4904:Tbx20'
ID 378038
Institutional Source Beutler Lab
Gene Symbol Tbx20
Ensembl Gene ENSMUSG00000031965
Gene Name T-box 20
Synonyms Tbx12, 9430010M06Rik
MMRRC Submission 042507-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4904 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 24632108-24685580 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24670129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 235 (K235E)
Ref Sequence ENSEMBL: ENSMUSP00000126318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052946] [ENSMUST00000166018]
AlphaFold Q9ES03
Predicted Effect probably damaging
Transcript: ENSMUST00000052946
AA Change: K235E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052591
Gene: ENSMUSG00000031965
AA Change: K235E

DomainStartEndE-ValueType
low complexity region 68 78 N/A INTRINSIC
low complexity region 81 95 N/A INTRINSIC
TBOX 98 292 1.08e-122 SMART
low complexity region 339 353 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166018
AA Change: K235E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126318
Gene: ENSMUSG00000031965
AA Change: K235E

DomainStartEndE-ValueType
low complexity region 68 78 N/A INTRINSIC
low complexity region 81 95 N/A INTRINSIC
TBOX 98 292 1.08e-122 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000215802
AA Change: K63E

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216564
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217597
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 94% (82/87)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous null mice display embryonic lethality, impaired cardiac looping, a small hourglass shaped heart, and decreased cardiomyocyte proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 T G 4: 129,906,332 (GRCm39) I920S possibly damaging Het
Afap1l1 A G 18: 61,871,786 (GRCm39) I556T probably benign Het
Ankfy1 C A 11: 72,642,931 (GRCm39) H665N probably benign Het
Aqp9 A C 9: 71,069,685 (GRCm39) probably benign Het
Arhgap21 A G 2: 20,854,872 (GRCm39) S1497P probably benign Het
Armc7 A G 11: 115,379,800 (GRCm39) D166G probably damaging Het
Arrdc1 C A 2: 24,816,676 (GRCm39) V167F possibly damaging Het
Col6a3 A T 1: 90,729,164 (GRCm39) I1259N probably damaging Het
Coq8a C T 1: 180,006,168 (GRCm39) R207Q probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dcbld1 C T 10: 52,196,066 (GRCm39) Q425* probably null Het
Def8 A G 8: 124,188,219 (GRCm39) N445D probably damaging Het
Dicer1 C T 12: 104,679,325 (GRCm39) V551I probably benign Het
Dst A T 1: 34,208,879 (GRCm39) T800S probably damaging Het
Dtl A T 1: 191,300,457 (GRCm39) C136S probably damaging Het
Duox1 T A 2: 122,151,345 (GRCm39) Y310N probably damaging Het
Duxf1 T A 10: 58,059,309 (GRCm39) R482* probably null Het
Ebf1 T C 11: 44,759,996 (GRCm39) F211S probably damaging Het
Gm44501 A T 17: 40,889,884 (GRCm39) I133F possibly damaging Het
Gm6625 T C 8: 89,873,379 (GRCm39) noncoding transcript Het
Golgb1 A T 16: 36,713,748 (GRCm39) D243V probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gtf2a1l G A 17: 88,997,471 (GRCm39) probably null Het
Herc2 T C 7: 55,807,234 (GRCm39) F2471L probably damaging Het
Hfe A T 13: 23,892,037 (GRCm39) I109N probably damaging Het
Hrg A G 16: 22,770,000 (GRCm39) E43G probably benign Het
Hspa1a T C 17: 35,189,427 (GRCm39) D492G probably damaging Het
Itgb8 T C 12: 119,134,606 (GRCm39) D487G probably benign Het
Jag1 A G 2: 136,929,062 (GRCm39) V798A probably damaging Het
Kcnq5 A G 1: 21,494,324 (GRCm39) V501A probably damaging Het
Kntc1 T C 5: 123,916,396 (GRCm39) V743A possibly damaging Het
Ly86 G T 13: 37,599,496 (GRCm39) V126F possibly damaging Het
Med26 A T 8: 73,250,691 (GRCm39) L136H probably damaging Het
Mpp3 T C 11: 101,891,413 (GRCm39) D575G probably benign Het
Myoc G A 1: 162,466,994 (GRCm39) M54I probably benign Het
Nlrp1c-ps A G 11: 71,133,454 (GRCm39) noncoding transcript Het
Or10v9 C T 19: 11,833,231 (GRCm39) V29M possibly damaging Het
Or51t4 A G 7: 102,598,272 (GRCm39) Y190C probably damaging Het
Or5v1b A G 17: 37,841,522 (GRCm39) Y218C probably damaging Het
Pak5 A T 2: 135,925,267 (GRCm39) D678E probably benign Het
Pcdhb12 T C 18: 37,570,909 (GRCm39) V685A possibly damaging Het
Pcdhga2 A G 18: 37,802,932 (GRCm39) T259A possibly damaging Het
Pde6a A T 18: 61,398,105 (GRCm39) M702L probably benign Het
Pigq A G 17: 26,150,034 (GRCm39) probably benign Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Ptch1 A C 13: 63,670,818 (GRCm39) I904S probably damaging Het
Rflnb A T 11: 75,912,964 (GRCm39) C141* probably null Het
Rilpl1 C A 5: 124,652,807 (GRCm39) probably null Het
Rpgrip1 T C 14: 52,358,544 (GRCm39) S217P possibly damaging Het
Rpgrip1 A T 14: 52,397,586 (GRCm39) I1292F probably damaging Het
Sema3a A C 5: 13,631,066 (GRCm39) Y534S probably damaging Het
Sez6 A G 11: 77,866,080 (GRCm39) Y736C probably damaging Het
Shank1 G T 7: 43,983,464 (GRCm39) probably benign Het
Slc45a4 G A 15: 73,458,691 (GRCm39) S294F probably benign Het
Slc9a8 A G 2: 167,313,316 (GRCm39) I393V possibly damaging Het
Sod1 T A 16: 90,019,732 (GRCm39) F46Y probably damaging Het
Sult1b1 T C 5: 87,682,912 (GRCm39) D11G probably benign Het
Syn3 T G 10: 86,302,950 (GRCm39) K68N possibly damaging Het
Taar8c C T 10: 23,977,147 (GRCm39) V222I probably benign Het
Tcaf3 C A 6: 42,570,931 (GRCm39) E274* probably null Het
Tll1 A T 8: 64,523,233 (GRCm39) M493K probably benign Het
Tmem236 T A 2: 14,200,803 (GRCm39) S123T probably benign Het
Trim33 T C 3: 103,238,963 (GRCm39) V647A possibly damaging Het
Tspear T A 10: 77,705,489 (GRCm39) Y296N possibly damaging Het
Vps13d T C 4: 144,882,015 (GRCm39) K1187E probably damaging Het
Xpot C T 10: 121,453,083 (GRCm39) V52I probably benign Het
Zdhhc3 A T 9: 122,929,452 (GRCm39) V61E probably damaging Het
Zfp955a A T 17: 33,461,162 (GRCm39) C323* probably null Het
Other mutations in Tbx20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Tbx20 APN 9 24,670,044 (GRCm39) missense probably damaging 1.00
IGL00572:Tbx20 APN 9 24,636,984 (GRCm39) missense probably benign
IGL01016:Tbx20 APN 9 24,661,617 (GRCm39) missense probably damaging 1.00
IGL01317:Tbx20 APN 9 24,681,051 (GRCm39) missense probably damaging 1.00
IGL02643:Tbx20 APN 9 24,685,009 (GRCm39) unclassified probably benign
IGL02690:Tbx20 APN 9 24,685,033 (GRCm39) missense probably benign 0.27
BB006:Tbx20 UTSW 9 24,637,059 (GRCm39) missense possibly damaging 0.86
BB016:Tbx20 UTSW 9 24,637,059 (GRCm39) missense possibly damaging 0.86
R0853:Tbx20 UTSW 9 24,636,908 (GRCm39) missense probably benign 0.05
R0855:Tbx20 UTSW 9 24,636,908 (GRCm39) missense probably benign 0.05
R0856:Tbx20 UTSW 9 24,636,908 (GRCm39) missense probably benign 0.05
R1781:Tbx20 UTSW 9 24,636,795 (GRCm39) missense probably benign 0.00
R1840:Tbx20 UTSW 9 24,636,972 (GRCm39) missense probably benign 0.22
R1981:Tbx20 UTSW 9 24,682,209 (GRCm39) missense possibly damaging 0.85
R2063:Tbx20 UTSW 9 24,681,067 (GRCm39) nonsense probably null
R2357:Tbx20 UTSW 9 24,681,072 (GRCm39) missense possibly damaging 0.56
R4166:Tbx20 UTSW 9 24,681,040 (GRCm39) missense probably damaging 1.00
R4790:Tbx20 UTSW 9 24,637,010 (GRCm39) missense probably benign 0.34
R5436:Tbx20 UTSW 9 24,681,016 (GRCm39) missense probably damaging 1.00
R5799:Tbx20 UTSW 9 24,636,816 (GRCm39) nonsense probably null
R5898:Tbx20 UTSW 9 24,670,155 (GRCm39) missense probably damaging 1.00
R6914:Tbx20 UTSW 9 24,636,779 (GRCm39) missense probably benign 0.19
R6962:Tbx20 UTSW 9 24,681,036 (GRCm39) missense probably damaging 1.00
R7556:Tbx20 UTSW 9 24,661,573 (GRCm39) splice site probably null
R7731:Tbx20 UTSW 9 24,681,993 (GRCm39) missense probably damaging 1.00
R7741:Tbx20 UTSW 9 24,651,581 (GRCm39) splice site probably null
R7832:Tbx20 UTSW 9 24,685,108 (GRCm39) missense probably damaging 1.00
R7929:Tbx20 UTSW 9 24,637,059 (GRCm39) missense possibly damaging 0.86
R7982:Tbx20 UTSW 9 24,685,220 (GRCm39) unclassified probably benign
R8110:Tbx20 UTSW 9 24,636,821 (GRCm39) missense probably damaging 1.00
R8974:Tbx20 UTSW 9 24,681,082 (GRCm39) missense probably damaging 1.00
R9058:Tbx20 UTSW 9 24,681,019 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGAGCAGCTTCTGTTTTGAG -3'
(R):5'- GCCCTCATCATTTTAGAAGGC -3'

Sequencing Primer
(F):5'- AGTGCTGGAAAACCCTTGTG -3'
(R):5'- CCTCATCATTTTAGAAGGCAGCTTG -3'
Posted On 2016-04-15