Mutagenetix > Incidental Mutation

Incidental Mutation 'R7254:Tbr1'

564120

Institutional Source

Beutler Lab

Gene Symbol

Tbr1

Ensembl Gene

ENSMUSG00000035033

Gene Name

T-box brain transcription factor 1

Synonyms

T-box brain gene 1

MMRRC Submission

045315-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61633274-61644458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61636386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 254 (V254E)

Ref Sequence

ENSEMBL: ENSMUSP00000046787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048934] [ENSMUST00000102737]

AlphaFold

Q64336

Predicted Effect

probably damaging
Transcript: ENSMUST00000048934
AA Change: V254E

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

SMART Domains

Protein: ENSMUSP00000046787
Gene: ENSMUSG00000035033
AA Change: V254E

Domain	Start	End	E-Value	Type
low complexity region	108	122	N/A	INTRINSIC
TBOX	203	398	1.6e-125	SMART
Pfam:T-box_assoc	418	679	9.6e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102737

SMART Domains

Protein: ENSMUSP00000099798
Gene: ENSMUSG00000035033

Domain	Start	End	E-Value	Type
TBOX	1	135	5.05e-41	SMART
low complexity region	184	193	N/A	INTRINSIC
low complexity region	306	315	N/A	INTRINSIC
low complexity region	319	329	N/A	INTRINSIC
low complexity region	355	365	N/A	INTRINSIC

Meta Mutation Damage Score

0.8409

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (59/60)

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 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 numerous developmental processes. In mouse, the ortholog of this gene is expressed in the cerebral cortex, hippocampus, amygdala and olfactory bulb and is thought to play an important role in neuronal migration and axonal projection. In mouse, the C-terminal region of this protein was found to be necessary and sufficient for association with the guanylate kinase domain of calcium/calmodulin-dependent serine protein kinase. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a targeted null allele fail to feed and die on the second postnatal day displaying disrupted forebrain morphology and a hypoplastic olfactory bulb that lacks normal mitral and tufted cells and shows a striking reduction in mature olfactory bulb projection neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	T	7: 43,147,623 (GRCm39)	D249E	probably damaging	Het
Acacb	A	C	5: 114,347,812 (GRCm39)		probably null	Het
Adnp	A	G	2: 168,025,918 (GRCm39)	V459A	probably damaging	Het
Arid3b	T	C	9: 57,704,037 (GRCm39)	K304E	probably damaging	Het
Ash1l	G	T	3: 88,977,816 (GRCm39)	R2713L	probably damaging	Het
Bmpr1a	A	C	14: 34,136,720 (GRCm39)	D490E	probably benign	Het
Cacna1g	A	T	11: 94,323,393 (GRCm39)	C1270*	probably null	Het
Cep295nl	G	T	11: 118,223,866 (GRCm39)	P326Q	probably damaging	Het
Cfap100	T	C	6: 90,383,043 (GRCm39)	I377V	unknown	Het
Creb1	C	T	1: 64,615,436 (GRCm39)	Q223*	probably null	Het
Ctsc	G	A	7: 87,958,767 (GRCm39)	G349D	probably damaging	Het
Ddx41	G	A	13: 55,681,769 (GRCm39)	R311*	probably null	Het
Dpcd	A	G	19: 45,565,473 (GRCm39)	Q149R	probably benign	Het
Dse	T	A	10: 34,060,144 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,226,205 (GRCm39)		probably benign	Het
Eef2k	C	T	7: 120,488,488 (GRCm39)	H458Y	probably benign	Het
Gipr	A	T	7: 18,897,538 (GRCm39)	V90E	probably damaging	Het
Gm14412	A	T	2: 177,009,189 (GRCm39)	D22E	probably damaging	Het
Gm21886	A	T	18: 80,132,950 (GRCm39)	C69*	probably null	Het
Gm5114	G	A	7: 39,058,390 (GRCm39)	L410F	probably benign	Het
Gmip	T	A	8: 70,269,118 (GRCm39)		probably null	Het
Gtf2f1	T	C	17: 57,314,101 (GRCm39)	T128A	possibly damaging	Het
Hnrnpr	A	G	4: 136,059,886 (GRCm39)	E330G	possibly damaging	Het
Hoxd9	T	A	2: 74,528,718 (GRCm39)	W107R	probably damaging	Het
Iars1	T	C	13: 49,876,554 (GRCm39)		probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Ifi213	G	T	1: 173,421,529 (GRCm39)	P120Q	probably damaging	Het
Il6	A	T	5: 30,219,906 (GRCm39)	Q94L	probably benign	Het
Kcnab1	A	G	3: 65,226,908 (GRCm39)	S196G	probably benign	Het
Kcnv1	C	T	15: 44,976,604 (GRCm39)	V228I	probably benign	Het
Lars2	A	G	9: 123,284,028 (GRCm39)	T739A	possibly damaging	Het
Med13	T	C	11: 86,210,661 (GRCm39)	S494G	probably benign	Het
Mtrf1	GCCTTC	GC	14: 79,660,931 (GRCm39)		probably null	Het
Myh9	T	G	15: 77,650,024 (GRCm39)	Q1646P	probably damaging	Het
Nif3l1	T	A	1: 58,489,625 (GRCm39)	S171R	probably benign	Het
Or13n4	A	G	7: 106,422,777 (GRCm39)	*319Q	probably null	Het
Or1e1c	A	G	11: 73,266,201 (GRCm39)	I212V	probably benign	Het
Or1r1	A	G	11: 73,874,603 (GRCm39)	V277A	probably benign	Het
Or51f23	A	G	7: 102,452,765 (GRCm39)	T27A	probably benign	Het
Or5b113	A	T	19: 13,342,475 (GRCm39)	D161V	probably benign	Het
Or6c5b	T	C	10: 129,245,649 (GRCm39)	V138A	probably benign	Het
Or8c8	T	C	9: 38,164,719 (GRCm39)	M2T	probably benign	Het
Pak5	A	T	2: 135,958,684 (GRCm39)	S135T	possibly damaging	Het
Prr29	A	T	11: 106,265,684 (GRCm39)	M1L	probably damaging	Het
Ptpn13	T	A	5: 103,742,502 (GRCm39)	V2407E	probably damaging	Het
Ralgapa1	T	A	12: 55,741,978 (GRCm39)	H1310L	probably damaging	Het
Raph1	T	C	1: 60,538,767 (GRCm39)	S393G	unknown	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Ror2	A	G	13: 53,272,756 (GRCm39)	I303T	possibly damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn10a	C	T	9: 119,447,921 (GRCm39)	D1378N	probably damaging	Het
Serpinc1	T	A	1: 160,821,188 (GRCm39)	C91S	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spata31d1e	T	C	13: 59,889,790 (GRCm39)	I677V	probably benign	Het
Tada1	T	A	1: 166,216,217 (GRCm39)	C139*	probably null	Het
Timd4	A	T	11: 46,734,016 (GRCm39)	I340F	probably benign	Het
Tubb2a	T	C	13: 34,258,515 (GRCm39)	Y425C	probably damaging	Het
Zfp292	A	T	4: 34,819,476 (GRCm39)	M287K	probably damaging	Het

Other mutations in Tbr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Tbr1	APN	2	61,635,625 (GRCm39)	missense	probably benign	0.14
IGL01309:Tbr1	APN	2	61,636,411 (GRCm39)	missense	possibly damaging	0.92
IGL02161:Tbr1	APN	2	61,635,583 (GRCm39)	nonsense	probably null
IGL02256:Tbr1	APN	2	61,635,218 (GRCm39)	missense	probably damaging	0.99
IGL02336:Tbr1	APN	2	61,635,336 (GRCm39)	missense	possibly damaging	0.93
IGL02526:Tbr1	APN	2	61,642,042 (GRCm39)	missense	probably benign	0.00
FR4340:Tbr1	UTSW	2	61,636,691 (GRCm39)	intron	probably benign
R0594:Tbr1	UTSW	2	61,641,964 (GRCm39)	missense	possibly damaging	0.49
R0847:Tbr1	UTSW	2	61,635,373 (GRCm39)	missense	probably benign	0.00
R1101:Tbr1	UTSW	2	61,635,083 (GRCm39)	missense	probably benign	0.00
R1247:Tbr1	UTSW	2	61,641,962 (GRCm39)	missense	possibly damaging	0.78
R1944:Tbr1	UTSW	2	61,642,600 (GRCm39)	missense	probably damaging	1.00
R3080:Tbr1	UTSW	2	61,637,635 (GRCm39)	nonsense	probably null
R4110:Tbr1	UTSW	2	61,642,076 (GRCm39)	missense	probably benign	0.18
R4111:Tbr1	UTSW	2	61,642,076 (GRCm39)	missense	probably benign	0.18
R4440:Tbr1	UTSW	2	61,635,182 (GRCm39)	missense	possibly damaging	0.92
R4790:Tbr1	UTSW	2	61,641,932 (GRCm39)	missense	probably benign	0.04
R4979:Tbr1	UTSW	2	61,635,593 (GRCm39)	splice site	probably null
R5054:Tbr1	UTSW	2	61,636,346 (GRCm39)	missense	possibly damaging	0.83
R5283:Tbr1	UTSW	2	61,635,244 (GRCm39)	missense	probably benign	0.00
R5545:Tbr1	UTSW	2	61,637,720 (GRCm39)	missense	possibly damaging	0.93
R6178:Tbr1	UTSW	2	61,635,159 (GRCm39)	missense	possibly damaging	0.91
R6290:Tbr1	UTSW	2	61,635,394 (GRCm39)	missense	probably benign
R6389:Tbr1	UTSW	2	61,636,631 (GRCm39)	start gained	probably benign
R6637:Tbr1	UTSW	2	61,641,974 (GRCm39)	missense	probably benign	0.17
R6983:Tbr1	UTSW	2	61,642,079 (GRCm39)	missense	probably damaging	1.00
R7021:Tbr1	UTSW	2	61,637,688 (GRCm39)	missense	probably benign	0.18
R7112:Tbr1	UTSW	2	61,642,160 (GRCm39)	missense	probably benign	0.02
R7291:Tbr1	UTSW	2	61,642,600 (GRCm39)	missense	probably damaging	1.00
R7438:Tbr1	UTSW	2	61,635,161 (GRCm39)	missense	possibly damaging	0.92
R8253:Tbr1	UTSW	2	61,635,585 (GRCm39)	missense	probably benign	0.16
R8811:Tbr1	UTSW	2	61,642,196 (GRCm39)	missense	possibly damaging	0.89
R9258:Tbr1	UTSW	2	61,642,723 (GRCm39)	missense	probably benign	0.03
R9716:Tbr1	UTSW	2	61,635,077 (GRCm39)	missense	probably benign	0.12
Z1176:Tbr1	UTSW	2	61,642,491 (GRCm39)	missense	probably benign
Z1177:Tbr1	UTSW	2	61,642,575 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATTTCGTTCAGACACGCGG -3'
(R):5'- TAGGAAGTCATTGGCCGACC -3'

Sequencing Primer
(F):5'- CGGCGAGGACAAGTTTTGC -3'
(R):5'- GGCCGACCGTTTTTAAAAAGTCG -3'

Posted On

2019-06-26