Mutagenetix > Incidental Mutation

Incidental Mutation 'R5926:Tbx6'

459898

Institutional Source

Beutler Lab

Gene Symbol

Tbx6

Ensembl Gene

ENSMUSG00000030699

Gene Name

T-box 6

Synonyms

MMRRC Submission

044121-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5926 (G1)

Quality Score

154

Status

Not validated

Chromosome

Chromosomal Location

126380655-126384720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126384025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 359 (A359T)

Ref Sequence

ENSEMBL: ENSMUSP00000091579 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000094037
AA Change: A359T

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000091579
Gene: ENSMUSG00000030699
AA Change: A359T

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

probably benign
Transcript: ENSMUST00000172352
AA Change: A360T

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000126418
Gene: ENSMUSG00000030699
AA Change: A360T

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

noncoding transcript
Transcript: ENSMUST00000206143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206261

Predicted Effect

probably benign
Transcript: ENSMUST00000206353

Predicted Effect

probably benign
Transcript: ENSMUST00000206477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205950

Predicted Effect

probably benign
Transcript: ENSMUST00000205786

Predicted Effect

probably benign
Transcript: ENSMUST00000206334

Predicted Effect

probably benign
Transcript: ENSMUST00000206570

Predicted Effect

probably benign
Transcript: ENSMUST00000205935

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

Meta Mutation Damage Score

0.0948

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,537,608 (GRCm39)	Y701F	probably benign	Het
Abra	T	A	15: 41,729,650 (GRCm39)	H250L	probably damaging	Het
Acer2	T	C	4: 86,792,805 (GRCm39)	V27A	probably benign	Het
Arhgef15	A	G	11: 68,842,781 (GRCm39)	L343S	possibly damaging	Het
Arnt2	G	T	7: 83,993,154 (GRCm39)	H129N	probably damaging	Het
Atp9a	T	A	2: 168,548,191 (GRCm39)	Y63F	probably damaging	Het
Brca2	A	G	5: 150,458,087 (GRCm39)	T213A	probably benign	Het
Cdk5r1	T	C	11: 80,369,128 (GRCm39)		probably null	Het
Cyb5r4	C	T	9: 86,939,314 (GRCm39)	L366F	probably benign	Het
Cyp20a1	T	A	1: 60,402,401 (GRCm39)	I162K	possibly damaging	Het
Dcaf1	T	C	9: 106,715,561 (GRCm39)	V226A	probably benign	Het
Ddx41	A	T	13: 55,682,112 (GRCm39)	M232K	probably damaging	Het
Dnm1	C	T	2: 32,205,816 (GRCm39)	V99I	probably benign	Het
Doc2a	T	C	7: 126,448,697 (GRCm39)	V134A	probably damaging	Het
Ghdc	C	T	11: 100,659,063 (GRCm39)	V380M	possibly damaging	Het
Gldn	A	G	9: 54,245,722 (GRCm39)	I424M	possibly damaging	Het
Haus6	A	T	4: 86,517,553 (GRCm39)	H270Q	probably benign	Het
Hfe	A	T	13: 23,892,247 (GRCm39)	M39K	probably damaging	Het
Jakmip1	C	T	5: 37,242,624 (GRCm39)		probably benign	Het
Kcnb2	A	G	1: 15,383,235 (GRCm39)	N187S	probably benign	Het
Kcnd2	A	G	6: 21,217,084 (GRCm39)	S263G	probably damaging	Het
Kcnh1	A	G	1: 192,095,385 (GRCm39)	N481S	probably benign	Het
Kcnn2	A	G	18: 45,818,351 (GRCm39)	I343V	probably benign	Het
L3hypdh	T	A	12: 72,123,959 (GRCm39)	S300C	probably damaging	Het
Lrit1	T	A	14: 36,776,966 (GRCm39)	C29S	probably damaging	Het
Mark3	T	A	12: 111,559,168 (GRCm39)	V70E	probably damaging	Het
Med16	C	T	10: 79,738,362 (GRCm39)	V319M	probably damaging	Het
Mindy3	T	C	2: 12,352,911 (GRCm39)	Y430C	probably damaging	Het
Mup5	A	T	4: 61,751,286 (GRCm39)	F121I	probably benign	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Notch1	A	G	2: 26,366,116 (GRCm39)	Y813H	probably benign	Het
Or10a3m	T	C	7: 108,312,794 (GRCm39)	L66S	probably damaging	Het
Or5p53	T	C	7: 107,533,110 (GRCm39)	S128P	probably damaging	Het
Or6b2b	A	T	1: 92,419,288 (GRCm39)	L63Q	probably damaging	Het
Pi4kb	A	G	3: 94,906,307 (GRCm39)	Y301C	probably damaging	Het
Ptch1	A	G	13: 63,692,869 (GRCm39)	S244P	probably benign	Het
Ptprn	G	A	1: 75,231,242 (GRCm39)	T554I	probably damaging	Het
Ptprt	T	C	2: 161,406,606 (GRCm39)	I969V	probably benign	Het
Raf1	T	C	6: 115,596,859 (GRCm39)	M519V	probably benign	Het
Ryr1	A	G	7: 28,803,785 (GRCm39)	V622A	probably damaging	Het
Spaca4	G	T	7: 45,374,719 (GRCm39)	H94Q	probably benign	Het
Spata31	A	G	13: 65,068,539 (GRCm39)	D229G	possibly damaging	Het
Trpm8	T	A	1: 88,258,469 (GRCm39)	Y251N	probably damaging	Het
Vps16	T	A	2: 130,285,476 (GRCm39)	N806K	probably damaging	Het
Vwf	T	C	6: 125,581,137 (GRCm39)	F592L	probably 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
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

Predicted Primers

PCR Primer
(F):5'- CATGGGGCCAAAACTGAGAC -3'
(R):5'- GGCTGTAGGTCCAGAAATGCAG -3'

Sequencing Primer
(F):5'- GGAACCTCCCCTAACCAATCTGTG -3'
(R):5'- TCCAGAAATGCAGCTGAGTAG -3'

Posted On

2017-02-28