Mutagenetix > Incidental Mutation

Incidental Mutation 'R6125:Tbx1'

487369

Institutional Source

Beutler Lab

Gene Symbol

Tbx1

Ensembl Gene

ENSMUSG00000009097

Gene Name

T-box 1

Synonyms

nmf219

MMRRC Submission

044272-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18399729-18409412 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18402216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 263 (F263L)

Ref Sequence

ENSEMBL: ENSMUSP00000156061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009241] [ENSMUST00000232143] [ENSMUST00000232335] [ENSMUST00000232589]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000009241
AA Change: F254L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000009241
Gene: ENSMUSG00000009097
AA Change: F254L

Domain	Start	End	E-Value	Type
TBOX	107	300	3.08e-127	SMART
low complexity region	365	391	N/A	INTRINSIC
Blast:TBOX	400	422	1e-6	BLAST
low complexity region	440	480	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000232143

Predicted Effect

probably damaging
Transcript: ENSMUST00000232335
AA Change: F263L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232557

Predicted Effect

probably benign
Transcript: ENSMUST00000232589

Meta Mutation Damage Score

0.9060

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.5%

Validation Efficiency

97% (65/67)

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. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display neonatal lethality, persistent truncus arteriosis, abnormal aortic arch, abnormal inner, middle, and outer ear morphology, abnormal lymphangiogenesis, and abnormal cranial base morphology. Heterozygous null mice display abnormal fourth aortic arch arteries. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef11	T	C	3: 87,636,909 (GRCm39)	F1023S	probably damaging	Het
Atp1a1	G	A	3: 101,498,023 (GRCm39)	R255C	probably damaging	Het
Bbs12	A	G	3: 37,374,700 (GRCm39)	I383V	probably benign	Het
Cacna1h	G	A	17: 25,604,668 (GRCm39)	P1215L	probably benign	Het
Calm5	A	T	13: 3,904,491 (GRCm39)	K62*	probably null	Het
Chd8	T	A	14: 52,444,491 (GRCm39)	H398L	probably benign	Het
Cspg4b	A	G	13: 113,454,217 (GRCm39)	T88A	probably benign	Het
Dlgap2	A	T	8: 14,777,193 (GRCm39)	H146L	possibly damaging	Het
Dop1a	G	A	9: 86,403,186 (GRCm39)	R1462H	probably damaging	Het
Dusp29	C	A	14: 21,736,758 (GRCm39)	V115L	probably benign	Het
Dync2h1	T	C	9: 7,168,706 (GRCm39)	N369S	probably damaging	Het
Fer1l4	A	C	2: 155,888,907 (GRCm39)	V422G	probably damaging	Het
Fstl4	T	C	11: 53,077,130 (GRCm39)	M629T	probably benign	Het
Galnt18	A	G	7: 111,084,400 (GRCm39)	Y507H	probably damaging	Het
Gar1	C	A	3: 129,624,399 (GRCm39)		probably benign	Het
Gm19402	T	C	10: 77,526,507 (GRCm39)	T29A	probably damaging	Het
Gm826	A	G	2: 160,169,034 (GRCm39)	F92L	unknown	Het
H1f0	T	A	15: 78,913,070 (GRCm39)	I50N	probably damaging	Het
H2-DMb1	A	G	17: 34,376,439 (GRCm39)	Y186C	probably damaging	Het
Hgf	A	G	5: 16,803,159 (GRCm39)	N357S	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hsf2	T	C	10: 57,388,101 (GRCm39)	V415A	probably benign	Het
Ins2	C	A	7: 142,233,430 (GRCm39)		probably null	Het
Kel	A	T	6: 41,667,720 (GRCm39)	F89L	probably damaging	Het
Lratd2	T	C	15: 60,695,146 (GRCm39)	N200S	probably damaging	Het
Lrrc37a	T	C	11: 103,392,386 (GRCm39)	D1013G	probably benign	Het
Ltbp4	C	A	7: 27,027,180 (GRCm39)	G397C	probably damaging	Het
Madd	A	G	2: 90,982,797 (GRCm39)		probably null	Het
Map4k4	A	G	1: 40,043,125 (GRCm39)	D660G	possibly damaging	Het
Mdm4	G	A	1: 132,922,248 (GRCm39)	T298I	possibly damaging	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mpdz	A	T	4: 81,215,764 (GRCm39)	C1487S	probably benign	Het
Mtus1	A	G	8: 41,537,576 (GRCm39)	S47P	probably damaging	Het
Nek1	T	C	8: 61,481,735 (GRCm39)	S217P	probably damaging	Het
Or10ag59	T	C	2: 87,405,590 (GRCm39)	I54T	probably benign	Het
Or5b123	C	T	19: 13,597,249 (GRCm39)	A241V	probably benign	Het
Pcdhb10	T	C	18: 37,546,679 (GRCm39)	V585A	possibly damaging	Het
Perm1	A	G	4: 156,302,176 (GRCm39)	E240G	probably benign	Het
Pkdrej	T	C	15: 85,700,585 (GRCm39)	T1784A	probably damaging	Het
Pnpla8	C	T	12: 44,354,772 (GRCm39)	T644M	possibly damaging	Het
Rgs2	T	C	1: 143,879,763 (GRCm39)	K32E	probably damaging	Het
Scyl3	A	T	1: 163,778,145 (GRCm39)	M428L	probably benign	Het
Slc30a8	A	G	15: 52,198,530 (GRCm39)	D325G	probably benign	Het
Slc5a9	G	T	4: 111,741,002 (GRCm39)	T548K	probably damaging	Het
Slc9b2	G	A	3: 135,036,457 (GRCm39)		probably null	Het
Slco3a1	C	T	7: 73,968,254 (GRCm39)	D489N	probably benign	Het
Slit3	T	C	11: 35,461,560 (GRCm39)		probably null	Het
Stk39	C	A	2: 68,222,468 (GRCm39)	G199C	probably damaging	Het
Tcf21	G	T	10: 22,695,665 (GRCm39)	N46K	probably benign	Het
Tdrd9	T	A	12: 112,034,632 (GRCm39)	M1357K	possibly damaging	Het
Tll1	A	G	8: 64,504,521 (GRCm39)	L625P	probably damaging	Het
Tmem131	G	A	1: 36,847,387 (GRCm39)	S1237L	possibly damaging	Het
Trdv5	T	C	14: 54,386,298 (GRCm39)	K56E	possibly damaging	Het
Triml2	G	A	8: 43,640,659 (GRCm39)	V172I	probably benign	Het
Trmt44	C	A	5: 35,722,842 (GRCm39)	D409Y	probably damaging	Het
Ube2o	C	T	11: 116,432,204 (GRCm39)	A921T	probably damaging	Het
Ube2o	T	C	11: 116,435,576 (GRCm39)	D404G	possibly damaging	Het
Ube4b	T	C	4: 149,483,203 (GRCm39)	T22A	probably benign	Het
Ugp2	A	T	11: 21,279,815 (GRCm39)	F327L	probably damaging	Het
Virma	T	C	4: 11,521,172 (GRCm39)	S910P	probably damaging	Het
Vmn2r9	A	G	5: 108,990,836 (GRCm39)	Y842H	probably benign	Het
Zfhx4	A	G	3: 5,463,871 (GRCm39)	D1368G	possibly damaging	Het
Zfp980	T	A	4: 145,429,208 (GRCm39)	*646R	probably null	Het
Zranb3	T	A	1: 127,887,482 (GRCm39)	N982Y	probably benign	Het

Other mutations in Tbx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02170:Tbx1	APN	16	18,401,552 (GRCm39)	missense	probably benign	0.16
IGL02553:Tbx1	APN	16	18,402,847 (GRCm39)	missense	probably damaging	1.00
R0587:Tbx1	UTSW	16	18,402,243 (GRCm39)	missense	possibly damaging	0.89
R1539:Tbx1	UTSW	16	18,402,843 (GRCm39)	missense	probably benign	0.10
R1785:Tbx1	UTSW	16	18,403,879 (GRCm39)	missense	probably damaging	1.00
R2267:Tbx1	UTSW	16	18,400,744 (GRCm39)	splice site	probably null
R2269:Tbx1	UTSW	16	18,400,744 (GRCm39)	splice site	probably null
R7036:Tbx1	UTSW	16	18,405,551 (GRCm39)	missense	unknown
R7842:Tbx1	UTSW	16	18,405,365 (GRCm39)	missense	unknown
R8048:Tbx1	UTSW	16	18,406,769 (GRCm39)	start codon destroyed	probably null
R8350:Tbx1	UTSW	16	18,400,795 (GRCm39)	missense	unknown
R8450:Tbx1	UTSW	16	18,400,795 (GRCm39)	missense	unknown
R8979:Tbx1	UTSW	16	18,406,745 (GRCm39)	missense	unknown
R8992:Tbx1	UTSW	16	18,402,937 (GRCm39)	missense	probably damaging	1.00
R9662:Tbx1	UTSW	16	18,400,882 (GRCm39)	missense	unknown
Z1177:Tbx1	UTSW	16	18,405,509 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAACGTCAGATCAGGCCTCTG -3'
(R):5'- TCACGTAGACTTCATGATGCTGG -3'

Sequencing Primer
(F):5'- GAGTTTCCGGAATGATTTGGAAAAC -3'
(R):5'- ATGATGCTGGACTGAATTCTCC -3'

Posted On

2017-10-10