Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01899:Tbx6'

179488

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbx6

Ensembl Gene

ENSMUSG00000030699

Gene Name

T-box 6

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01899

Quality Score

Status

Chromosome

Chromosomal Location

126380655-126384720 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 126383704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032936] [ENSMUST00000038614] [ENSMUST00000094037] [ENSMUST00000106356] [ENSMUST00000106357] [ENSMUST00000145762] [ENSMUST00000205786] [ENSMUST00000205935] [ENSMUST00000206570] [ENSMUST00000206353] [ENSMUST00000172352] [ENSMUST00000170882]

AlphaFold

P70327

Predicted Effect

probably benign
Transcript: ENSMUST00000032936

SMART Domains

Protein: ENSMUSP00000032936
Gene: ENSMUSG00000030697

Domain	Start	End	E-Value	Type
PP2Ac	20	290	4.04e-147	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000038614

SMART Domains

Protein: ENSMUSP00000037332
Gene: ENSMUSG00000042675

Domain	Start	End	E-Value	Type
Pfam:Yippee-Mis18	20	114	6.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094037

SMART Domains

Protein: ENSMUSP00000091579
Gene: ENSMUSG00000030699

Domain	Start	End	E-Value	Type
low complexity region	55	75	N/A	INTRINSIC
TBOX	90	278	1.79e-128	SMART
low complexity region	332	348	N/A	INTRINSIC
low complexity region	414	428	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106356

SMART Domains

Protein: ENSMUSP00000101963
Gene: ENSMUSG00000042675

Domain	Start	End	E-Value	Type
Pfam:Yippee-Mis18	20	114	5.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106357

SMART Domains

Protein: ENSMUSP00000101964
Gene: ENSMUSG00000042675

Domain	Start	End	E-Value	Type
Pfam:Yippee-Mis18	20	114	5.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145762

SMART Domains

Protein: ENSMUSP00000115596
Gene: ENSMUSG00000042675

Domain	Start	End	E-Value	Type
Pfam:Yippee-Mis18	20	103	2.5e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206261

Predicted Effect

probably benign
Transcript: ENSMUST00000206477

Predicted Effect

probably benign
Transcript: ENSMUST00000205786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205950

Predicted Effect

probably benign
Transcript: ENSMUST00000205935

Predicted Effect

probably benign
Transcript: ENSMUST00000206334

Predicted Effect

probably benign
Transcript: ENSMUST00000206570

Predicted Effect

probably benign
Transcript: ENSMUST00000206353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206143

Predicted Effect

probably benign
Transcript: ENSMUST00000172352

SMART Domains

Protein: ENSMUSP00000126418
Gene: ENSMUSG00000030699

Domain	Start	End	E-Value	Type
low complexity region	55	75	N/A	INTRINSIC
TBOX	90	278	1.79e-128	SMART
low complexity region	333	349	N/A	INTRINSIC
low complexity region	415	429	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170882

SMART Domains

Protein: ENSMUSP00000128753
Gene: ENSMUSG00000042675

Domain	Start	End	E-Value	Type
Pfam:Yippee-Mis18	20	114	5.4e-21	PFAM

Coding Region Coverage

Validation Efficiency

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. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygous null embryos die during organogenesis exhibiting defects in paraxial mesoderm differentiation, ectopic neural tube development, kinked neural tubes, impaired somite development, hematomas, enlarged tail buds, and laterality defects associated with nodal cilium anomalies. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bicral	G	A	17: 47,135,600 (GRCm39)	P537S	probably benign	Het
Cadm1	A	G	9: 47,721,389 (GRCm39)	T260A	probably damaging	Het
Ddr2	C	A	1: 169,811,991 (GRCm39)	G744C	probably damaging	Het
Epha6	A	C	16: 59,659,666 (GRCm39)	N817K	probably benign	Het
Far2	A	G	6: 148,047,527 (GRCm39)	K69E	probably benign	Het
Fasn	G	A	11: 120,710,975 (GRCm39)		probably benign	Het
Ficd	A	G	5: 113,875,158 (GRCm39)	T76A	probably benign	Het
Flot1	A	T	17: 36,141,573 (GRCm39)	I327L	probably benign	Het
Fscn3	A	T	6: 28,436,078 (GRCm39)	E458V	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Lepr	A	G	4: 101,637,184 (GRCm39)	E691G	possibly damaging	Het
Ly9	T	A	1: 171,434,815 (GRCm39)	Q26L	probably damaging	Het
Or5p60	T	C	7: 107,724,048 (GRCm39)	T141A	probably benign	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Plxna2	C	T	1: 194,433,796 (GRCm39)	S615L	probably damaging	Het
Ppfia2	T	C	10: 106,751,612 (GRCm39)		probably null	Het
Ppox	A	G	1: 171,104,655 (GRCm39)	V470A	probably benign	Het
Rptor	T	A	11: 119,748,279 (GRCm39)	S4T	probably benign	Het
Sf3a1	T	A	11: 4,121,063 (GRCm39)	I218N	probably damaging	Het
Stxbp5l	T	C	16: 37,020,954 (GRCm39)	S647G	probably benign	Het
Sytl1	C	T	4: 132,986,167 (GRCm39)		probably null	Het
Thg1l	C	A	11: 45,845,018 (GRCm39)	R78L	probably damaging	Het
Tlr1	T	C	5: 65,084,359 (GRCm39)	K73E	probably damaging	Het
Trpm1	T	A	7: 63,884,742 (GRCm39)	F808I	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het

Other mutations in Tbx6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Tbx6	APN	7	126,380,701 (GRCm39)	missense	probably damaging	1.00
R1018:Tbx6	UTSW	7	126,382,364 (GRCm39)	unclassified	probably benign
R1126:Tbx6	UTSW	7	126,383,891 (GRCm39)	missense	probably damaging	1.00
R2045:Tbx6	UTSW	7	126,382,055 (GRCm39)	missense	probably damaging	1.00
R4913:Tbx6	UTSW	7	126,383,707 (GRCm39)	critical splice acceptor site	probably null
R5251:Tbx6	UTSW	7	126,382,516 (GRCm39)	missense	probably damaging	1.00
R5926:Tbx6	UTSW	7	126,384,025 (GRCm39)	missense	possibly damaging	0.53
R5927:Tbx6	UTSW	7	126,384,025 (GRCm39)	missense	possibly damaging	0.53
R6285:Tbx6	UTSW	7	126,380,740 (GRCm39)	missense	possibly damaging	0.57
R7072:Tbx6	UTSW	7	126,383,912 (GRCm39)	missense	probably benign	0.37
R8023:Tbx6	UTSW	7	126,382,031 (GRCm39)	missense	possibly damaging	0.88
R8544:Tbx6	UTSW	7	126,380,656 (GRCm39)	splice site	probably null
R9046:Tbx6	UTSW	7	126,381,120 (GRCm39)	critical splice donor site	probably null
R9102:Tbx6	UTSW	7	126,381,014 (GRCm39)	missense	possibly damaging	0.88

Posted On

2014-05-07