Mutagenetix > Incidental Mutation

Incidental Mutation 'R9102:Tbx6'

691757

Institutional Source

Beutler Lab

Gene Symbol

Tbx6

Ensembl Gene

ENSMUSG00000030699

Gene Name

T-box 6

Synonyms

MMRRC Submission

068916-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9102 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126380655-126384720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126381014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 83 (E83G)

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

possibly damaging
Transcript: ENSMUST00000094037
AA Change: E83G

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

SMART Domains

Protein: ENSMUSP00000091579
Gene: ENSMUSG00000030699
AA Change: E83G

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

possibly damaging
Transcript: ENSMUST00000172352
AA Change: E83G

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126418
Gene: ENSMUSG00000030699
AA Change: E83G

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

Meta Mutation Damage Score

0.0579

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (62/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adam33	T	C	2: 130,897,737 (GRCm39)	Q227R	probably benign	Het
Adgrb2	G	A	4: 129,912,802 (GRCm39)	G1276D	probably benign	Het
Adra1b	A	G	11: 43,667,056 (GRCm39)	S394P	possibly damaging	Het
Arap2	T	A	5: 62,906,341 (GRCm39)	H226L	probably benign	Het
Bckdk	A	G	7: 127,506,658 (GRCm39)	D297G	probably null	Het
Brwd1	T	C	16: 95,869,725 (GRCm39)	T101A	probably benign	Het
Ciita	A	G	16: 10,324,565 (GRCm39)	R166G	probably benign	Het
Cnksr1	A	G	4: 133,956,323 (GRCm39)	F587S	probably damaging	Het
Col4a1	A	T	8: 11,253,007 (GRCm39)	C1548S	possibly damaging	Het
Cxcl15	G	T	5: 90,949,154 (GRCm39)	M106I		Het
Dennd6a	T	C	14: 26,350,689 (GRCm39)	I598T	probably damaging	Het
Dlg5	G	A	14: 24,199,567 (GRCm39)	P1446S	probably damaging	Het
Dnah6	A	T	6: 73,044,469 (GRCm39)	I3214N	probably benign	Het
Dnmt3b	T	C	2: 153,518,703 (GRCm39)	V622A	probably damaging	Het
Fam170b	T	A	14: 32,557,404 (GRCm39)	S80T	probably damaging	Het
Fbxl13	G	T	5: 21,837,801 (GRCm39)	H45Q	probably benign	Het
Fbxo39	T	C	11: 72,208,316 (GRCm39)	F223L	possibly damaging	Het
Fndc3b	C	A	3: 27,523,014 (GRCm39)		probably null	Het
Gbp3	G	C	3: 142,273,586 (GRCm39)	V378L	probably benign	Het
Gc	C	T	5: 89,591,444 (GRCm39)	S98N	probably benign	Het
Gck	A	G	11: 5,856,516 (GRCm39)	Y214H	probably damaging	Het
Gpr158	A	T	2: 21,830,078 (GRCm39)	S708C	probably damaging	Het
Hmcn1	A	T	1: 150,573,331 (GRCm39)	M2106K	probably benign	Het
Hoxd11	T	A	2: 74,513,274 (GRCm39)	Y180N	possibly damaging	Het
Hydin	A	G	8: 111,235,546 (GRCm39)	I1844V	probably benign	Het
Knl1	T	C	2: 118,917,973 (GRCm39)	I1777T	probably benign	Het
Krt33b	A	C	11: 99,915,846 (GRCm39)	L300R	probably damaging	Het
Madd	C	T	2: 90,988,404 (GRCm39)	A1208T	probably benign	Het
Meis2	T	A	2: 115,694,760 (GRCm39)	N461I	probably benign	Het
Mgat1	T	A	11: 49,152,165 (GRCm39)	V216E	probably damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Npc1l1	C	T	11: 6,164,684 (GRCm39)	V1122M	possibly damaging	Het
Nrsn1	A	G	13: 25,437,517 (GRCm39)	M137T	probably benign	Het
Nrxn3	T	C	12: 90,298,924 (GRCm39)	S1015P	probably benign	Het
Nudt22	T	A	19: 6,972,119 (GRCm39)	I166F	probably benign	Het
Or10d1b	A	C	9: 39,613,984 (GRCm39)	V27G	probably benign	Het
Or5j1	C	T	2: 86,879,171 (GRCm39)	M136I	possibly damaging	Het
Or6k4	A	T	1: 173,964,322 (GRCm39)	N4I		Het
Or6n2	T	A	1: 173,897,176 (GRCm39)	F104Y	probably damaging	Het
Or8b4	T	A	9: 37,829,992 (GRCm39)	I13N	probably damaging	Het
Or8g31-ps1	C	T	9: 39,276,388 (GRCm39)	P178S	unknown	Het
Pcdha4	T	A	18: 37,087,630 (GRCm39)	N604K	probably damaging	Het
Plxnc1	C	T	10: 94,663,107 (GRCm39)	V1181M	probably damaging	Het
Pms1	G	C	1: 53,307,021 (GRCm39)	H128Q	probably benign	Het
Prkar2b	G	A	12: 32,013,025 (GRCm39)	H364Y	probably benign	Het
Pus7	A	T	5: 23,957,380 (GRCm39)	I357K	possibly damaging	Het
Rsf1	GCGGC	GCGGCGGCGCCGGC	7: 97,229,138 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,508,906 (GRCm39)		probably benign	Het
Siglec1	T	C	2: 130,915,389 (GRCm39)	I1401V	probably benign	Het
Slc6a6	G	T	6: 91,731,940 (GRCm39)	V590L	probably benign	Het
Slc9b1	C	T	3: 135,100,725 (GRCm39)	P490L	probably damaging	Het
Sprn	T	C	7: 139,733,278 (GRCm39)	D98G	possibly damaging	Het
Srrm4	T	C	5: 116,620,563 (GRCm39)	D55G	unknown	Het
Sugct	A	G	13: 17,497,833 (GRCm39)	V280A	probably benign	Het
Tmem120a	T	C	5: 135,765,455 (GRCm39)	T209A	probably benign	Het
Top3a	T	C	11: 60,647,155 (GRCm39)	R255G	probably damaging	Het
Trav6-1	T	A	14: 52,876,008 (GRCm39)	F13I	probably benign	Het
Tsnaxip1	A	G	8: 106,568,622 (GRCm39)	E410G	probably benign	Het
Ubr5	A	G	15: 38,018,596 (GRCm39)	V842A		Het
Ubtf	A	G	11: 102,201,015 (GRCm39)		probably null	Het
Vwa3b	G	A	1: 37,174,593 (GRCm39)	M1I	probably null	Het
Zfp518b	T	C	5: 38,831,181 (GRCm39)	T275A	probably benign	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
R9046:Tbx6	UTSW	7	126,381,120 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGAAACTGGGAATATGTGGCCC -3'
(R):5'- GGCCATAGTTAGATTCTGCTGTC -3'

Sequencing Primer
(F):5'- GAATATGTGGCCCTCCCCTG -3'
(R):5'- GGTTGTCCTAGCCCTGAAG -3'

Posted On

2021-12-30