Mutagenetix > Incidental Mutation

Incidental Mutation 'R9046:Tbx6'

688054

Institutional Source

Beutler Lab

Gene Symbol

Tbx6

Ensembl Gene

ENSMUSG00000030699

Gene Name

T-box 6

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126380655-126384720 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 126381120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032936] [ENSMUST00000038614] [ENSMUST00000094037] [ENSMUST00000106356] [ENSMUST00000106357] [ENSMUST00000106359] [ENSMUST00000132643] [ENSMUST00000172352] [ENSMUST00000145762] [ENSMUST00000170882] [ENSMUST00000205786] [ENSMUST00000205935] [ENSMUST00000206570]

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: ENSMUST00000106359

Predicted Effect

probably benign
Transcript: ENSMUST00000132643

Predicted Effect

probably null
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: ENSMUST00000145762

SMART Domains

Protein: ENSMUSP00000115596
Gene: ENSMUSG00000042675

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205786

Predicted Effect

probably benign
Transcript: ENSMUST00000205935

Predicted Effect

probably benign
Transcript: ENSMUST00000206477

Predicted Effect

probably benign
Transcript: ENSMUST00000206570

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,243,525 (GRCm39)	V1796A	probably benign	Het
Abca3	A	G	17: 24,617,477 (GRCm39)	D1058G	probably damaging	Het
Adgrg6	A	G	10: 14,323,858 (GRCm39)	V431A	probably benign	Het
Amdhd1	C	T	10: 93,363,087 (GRCm39)	D334N	probably damaging	Het
Ankrd50	A	T	3: 38,506,642 (GRCm39)	M252K	probably benign	Het
Anxa3	G	A	5: 96,976,626 (GRCm39)	R204Q	probably damaging	Het
Apmap	T	C	2: 150,426,093 (GRCm39)	T352A	probably benign	Het
Arhgef4	A	G	1: 34,850,846 (GRCm39)	E464G	possibly damaging	Het
Atp11b	T	A	3: 35,852,740 (GRCm39)		probably benign	Het
Brwd1	T	A	16: 95,829,402 (GRCm39)	S1100C	probably damaging	Het
Ccm2l	T	A	2: 152,916,720 (GRCm39)	I317N	probably damaging	Het
Ccr9	C	T	9: 123,608,831 (GRCm39)	T171I	probably benign	Het
Cdh23	A	T	10: 60,218,303 (GRCm39)		probably benign	Het
Dact1	A	G	12: 71,365,534 (GRCm39)	I735V	probably benign	Het
Dok6	C	A	18: 89,787,221 (GRCm39)	V14L	probably benign	Het
Dthd1	A	T	5: 62,984,603 (GRCm39)	Y436F	possibly damaging	Het
Fndc9	G	T	11: 46,128,889 (GRCm39)	W136L	probably damaging	Het
Gal3st1	G	A	11: 3,948,278 (GRCm39)	V162I	probably benign	Het
Gart	A	G	16: 91,418,561 (GRCm39)	S973P	probably damaging	Het
H2-T5	A	T	17: 36,476,035 (GRCm39)		probably null	Het
Hsp90ab1	G	A	17: 45,879,969 (GRCm39)	P516S	probably damaging	Het
Htr1a	G	C	13: 105,581,816 (GRCm39)	G352A	probably damaging	Het
Hycc2	T	C	1: 58,568,945 (GRCm39)	T545A	probably damaging	Het
Isg20	A	T	7: 78,569,823 (GRCm39)	R265*	probably null	Het
Kcmf1	C	T	6: 72,825,455 (GRCm39)	A213T	probably damaging	Het
Kdm3a	A	G	6: 71,572,540 (GRCm39)	V1007A	probably damaging	Het
Klhl25	A	G	7: 75,515,337 (GRCm39)	E81G	probably damaging	Het
Klhl6	C	A	16: 19,765,803 (GRCm39)	V600F	probably damaging	Het
Kmt2b	A	G	7: 30,285,479 (GRCm39)	V471A	probably benign	Het
Lap3	A	G	5: 45,652,562 (GRCm39)	T53A	probably damaging	Het
Lmntd1	A	T	6: 145,365,565 (GRCm39)	I188N	probably damaging	Het
Lrba	A	G	3: 86,302,543 (GRCm39)	I1868V	possibly damaging	Het
Mef2d	A	T	3: 88,074,825 (GRCm39)	Y337F	probably benign	Het
Mgat4e	T	C	1: 134,474,742 (GRCm39)	T7A	possibly damaging	Het
Myo3a	G	T	2: 22,448,367 (GRCm39)	L985F	probably damaging	Het
Myof	T	C	19: 37,923,112 (GRCm39)		probably benign	Het
Ncapg2	G	A	12: 116,376,145 (GRCm39)	G77S	probably benign	Het
Nostrin	G	T	2: 68,975,123 (GRCm39)	V13L	probably benign	Het
Nup155	TGGG	TGG	15: 8,157,919 (GRCm39)		probably null	Het
Or14j6	A	G	17: 38,215,145 (GRCm39)	K236R	probably damaging	Het
Or3a10	T	C	11: 73,935,284 (GRCm39)	D272G	probably damaging	Het
Or4a75	C	T	2: 89,448,496 (GRCm39)		probably benign	Het
Or5b101	T	C	19: 13,005,115 (GRCm39)	N193D	probably benign	Het
Parp4	A	C	14: 56,864,927 (GRCm39)	K1025T	probably damaging	Het
Parvb	T	C	15: 84,174,639 (GRCm39)	I144T	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phf10	A	G	17: 15,175,160 (GRCm39)	V195A	probably damaging	Het
Prpf18	A	T	2: 4,640,464 (GRCm39)	M257K	possibly damaging	Het
Ptcd3	A	T	6: 71,870,364 (GRCm39)		probably null	Het
Ptprt	G	A	2: 161,372,361 (GRCm39)	T1437M	possibly damaging	Het
Ptx3	T	C	3: 66,132,153 (GRCm39)	F225L	probably damaging	Het
Rpl3l	A	G	17: 24,947,435 (GRCm39)	K50E	probably damaging	Het
Rubcn	T	C	16: 32,661,940 (GRCm39)	N427D	probably benign	Het
Serpinb8	G	A	1: 107,530,563 (GRCm39)	A114T	possibly damaging	Het
Sgsm1	A	G	5: 113,436,725 (GRCm39)	V35A	probably damaging	Het
Slc22a2	G	A	17: 12,834,234 (GRCm39)	A501T	probably null	Het
Slu7	G	A	11: 43,335,629 (GRCm39)	C455Y	probably damaging	Het
Src	C	A	2: 157,307,795 (GRCm39)	H235N	probably damaging	Het
Svopl	T	A	6: 37,998,531 (GRCm39)	M248L	probably benign	Het
Tprg1l	A	T	4: 154,242,913 (GRCm39)	I239N	probably damaging	Het
Trafd1	A	G	5: 121,513,189 (GRCm39)	F350L	probably benign	Het
Trpv3	A	G	11: 73,176,698 (GRCm39)	Y359C	probably damaging	Het
Vmn1r46	T	C	6: 89,953,585 (GRCm39)	S145P	probably damaging	Het
Vmn2r11	A	T	5: 109,202,850 (GRCm39)	F76I	probably benign	Het
Xpot	A	T	10: 121,432,149 (GRCm39)	C916*	probably null	Het
Zfp236	C	T	18: 82,637,042 (GRCm39)	E1415K	possibly damaging	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
IGL01899:Tbx6	APN	7	126,383,704 (GRCm39)	unclassified	probably benign
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
R9102:Tbx6	UTSW	7	126,381,014 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- GATTGCTTCCTCTCTGGGATCG -3'
(R):5'- AATGGCTCCTAAACCCAGTC -3'

Sequencing Primer
(F):5'- TCTCTGGGATCGAGGCAG -3'
(R):5'- GTCACAAACTCGCCAGCCTG -3'

Posted On

2021-11-19