Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03294:Tbx10'

416037

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbx10

Ensembl Gene

ENSMUSG00000037477

Gene Name

T-box 10

Synonyms

Tbx13, Tbx7

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

IGL03294

Quality Score

Status

Chromosome

Chromosomal Location

4042752-4049512 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 4048571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119218 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025802] [ENSMUST00000025806] [ENSMUST00000041871] [ENSMUST00000122924] [ENSMUST00000155405]

AlphaFold

Q810F8

Predicted Effect

probably benign
Transcript: ENSMUST00000025802

SMART Domains

Protein: ENSMUSP00000025802
Gene: ENSMUSG00000110949

Domain	Start	End	E-Value	Type
Pfam:NUDIX	26	160	2.8e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025806

SMART Domains

Protein: ENSMUSP00000025806
Gene: ENSMUSG00000024871

Domain	Start	End	E-Value	Type
C2	99	206	1.14e-10	SMART
low complexity region	231	243	N/A	INTRINSIC
C2	259	373	5.14e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000041871

SMART Domains

Protein: ENSMUSP00000037401
Gene: ENSMUSG00000037477

Domain	Start	End	E-Value	Type
TBOX	64	257	9.2e-117	SMART
low complexity region	309	320	N/A	INTRINSIC
low complexity region	331	351	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122924

SMART Domains

Protein: ENSMUSP00000122531
Gene: ENSMUSG00000110949

Domain	Start	End	E-Value	Type
Pfam:NUDIX	19	117	3.1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147806

Predicted Effect

probably benign
Transcript: ENSMUST00000155405

SMART Domains

Protein: ENSMUSP00000119218
Gene: ENSMUSG00000024869

Domain	Start	End	E-Value	Type
Pfam:NUDIX	29	159	8.1e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156285

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 encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a gain of function mutation die perinatally with cleft lip and cleft palate; heterozygotes show penetrance and strain effects - they generally circle and head-toss, but are not deaf, lack the macula of utriculus and show defects of the labyrinths in the vestibular region. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted(5) Spontaneous(1)

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030498E09Rik	A	T	X: 38,047,315 (GRCm39)	M119L	probably benign	Het
Akap10	A	T	11: 61,768,179 (GRCm39)	V646D	probably damaging	Het
Aldh3a1	A	G	11: 61,105,548 (GRCm39)	Y218C	probably damaging	Het
Arfgef3	T	A	10: 18,540,660 (GRCm39)	L174F	probably damaging	Het
Arhgef6	T	C	X: 56,382,338 (GRCm39)	K99E	possibly damaging	Het
Atp9a	T	C	2: 168,531,225 (GRCm39)	K163E	probably benign	Het
Birc6	C	T	17: 74,956,881 (GRCm39)	A3605V	probably benign	Het
C8b	G	A	4: 104,637,888 (GRCm39)	R120Q	probably benign	Het
Ccr1l1	A	C	9: 123,778,444 (GRCm39)	M1R	probably null	Het
Clca3a2	A	G	3: 144,803,530 (GRCm39)	S105P	probably damaging	Het
Cntnap1	A	G	11: 101,072,508 (GRCm39)	T502A	possibly damaging	Het
Ddx10	C	T	9: 53,028,452 (GRCm39)		probably null	Het
Dnah5	G	A	15: 28,233,441 (GRCm39)		probably null	Het
Dock9	A	T	14: 121,879,035 (GRCm39)		probably benign	Het
Gli2	A	G	1: 118,765,166 (GRCm39)	V995A	probably benign	Het
Gpr34	T	C	X: 13,505,788 (GRCm39)	Y106H	probably damaging	Het
Kmt2a	A	T	9: 44,731,862 (GRCm39)		probably benign	Het
Lamc1	C	A	1: 153,138,392 (GRCm39)	R154L	probably damaging	Het
Mat1a	T	A	14: 40,827,561 (GRCm39)	V5E	probably benign	Het
Meioc	A	T	11: 102,571,495 (GRCm39)	E943V	probably damaging	Het
Mtcl1	G	A	17: 66,645,014 (GRCm39)	P1478S	probably damaging	Het
Nav2	C	T	7: 49,141,205 (GRCm39)	R917*	probably null	Het
Or4f47	T	C	2: 111,972,518 (GRCm39)	I76T	probably benign	Het
Or7g32	T	C	9: 19,389,285 (GRCm39)	N87S	possibly damaging	Het
Pcsk9	T	A	4: 106,303,967 (GRCm39)	I506L	probably benign	Het
Phf14	T	A	6: 11,953,366 (GRCm39)	D368E	probably damaging	Het
Phka1	C	A	X: 101,580,819 (GRCm39)	S964I	probably damaging	Het
Pikfyve	G	A	1: 65,286,226 (GRCm39)	R1155Q	probably damaging	Het
Plin2	C	T	4: 86,580,315 (GRCm39)	V60M	probably damaging	Het
Ptpn9	A	G	9: 56,934,671 (GRCm39)	Q145R	possibly damaging	Het
Sap30	A	G	8: 57,940,335 (GRCm39)	I89T	probably damaging	Het
Sec61a2	T	C	2: 5,881,276 (GRCm39)		probably null	Het
Slc34a2	A	C	5: 53,221,340 (GRCm39)	D262A	probably benign	Het
Slc6a3	G	A	13: 73,705,300 (GRCm39)		probably null	Het
Slfn4	A	T	11: 83,077,400 (GRCm39)	T63S	probably benign	Het
Tie1	A	T	4: 118,337,420 (GRCm39)	N501K	probably damaging	Het
Tmprss11f	A	T	5: 86,685,966 (GRCm39)	Y134N	probably damaging	Het
Uevld	A	T	7: 46,580,778 (GRCm39)	D361E	possibly damaging	Het
Ugt1a5	A	C	1: 88,094,537 (GRCm39)	D255A	probably damaging	Het
Vmn2r11	A	G	5: 109,201,935 (GRCm39)	F190L	probably benign	Het
Wfs1	G	A	5: 37,132,941 (GRCm39)	R113C	probably damaging	Het
Yipf5	T	G	18: 40,339,449 (GRCm39)	M206L	probably benign	Het
Zbtb10	A	G	3: 9,346,047 (GRCm39)	D847G	probably benign	Het
Zfp786	T	A	6: 47,798,258 (GRCm39)	K227*	probably null	Het

Other mutations in Tbx10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Tbx10	APN	19	4,048,227 (GRCm39)	missense	probably damaging	1.00
IGL01597:Tbx10	APN	19	4,046,736 (GRCm39)	missense	probably benign	0.00
IGL02006:Tbx10	APN	19	4,048,186 (GRCm39)	missense	probably damaging	1.00
R0051:Tbx10	UTSW	19	4,046,798 (GRCm39)	critical splice donor site	probably null
R0105:Tbx10	UTSW	19	4,043,121 (GRCm39)	unclassified	probably benign
R0626:Tbx10	UTSW	19	4,047,873 (GRCm39)	missense	probably benign	0.42
R1265:Tbx10	UTSW	19	4,046,625 (GRCm39)	missense	probably damaging	0.97
R4713:Tbx10	UTSW	19	4,046,921 (GRCm39)	missense	probably damaging	1.00
R6337:Tbx10	UTSW	19	4,047,312 (GRCm39)	nonsense	probably null
R7021:Tbx10	UTSW	19	4,048,961 (GRCm39)	missense	probably benign
R7476:Tbx10	UTSW	19	4,049,034 (GRCm39)	missense	probably benign	0.00
R7549:Tbx10	UTSW	19	4,046,651 (GRCm39)	missense	probably benign	0.02
R8768:Tbx10	UTSW	19	4,047,303 (GRCm39)	missense	probably damaging	1.00
Z1177:Tbx10	UTSW	19	4,048,186 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02