Mutagenetix > Incidental Mutation

Incidental Mutation 'R6983:Tbr1'

542761

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

045090-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6983 (G1)

Quality Score

145.008

Status

Validated

Chromosome

Chromosomal Location

61633274-61644458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 61642079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 185 (G185V)

Ref Sequence

ENSEMBL: ENSMUSP00000099798 (fasta)

Gene Model

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

AlphaFold

Q64336

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048934
AA Change: G448V

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046787
Gene: ENSMUSG00000035033
AA Change: G448V

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 damaging
Transcript: ENSMUST00000102737
AA Change: G185V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099798
Gene: ENSMUSG00000035033
AA Change: G185V

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

0.0999

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,953,686 (GRCm39)	V530A	probably benign	Het
Adgrg6	T	C	10: 14,307,439 (GRCm39)	N816D	probably damaging	Het
Aebp2	T	C	6: 140,583,389 (GRCm39)	F288L	possibly damaging	Het
Afdn	T	C	17: 14,101,583 (GRCm39)	S1024P	probably damaging	Het
Akap6	A	C	12: 52,934,436 (GRCm39)	K643Q	probably damaging	Het
Atg2a	A	T	19: 6,310,070 (GRCm39)	D1751V	probably damaging	Het
Best2	T	A	8: 85,736,405 (GRCm39)	I253F	probably benign	Het
Bmp1	G	T	14: 70,745,647 (GRCm39)	P55T	probably damaging	Het
C1s1	C	A	6: 124,517,855 (GRCm39)	V42F	possibly damaging	Het
Ccdc115	A	G	1: 34,478,122 (GRCm39)		probably null	Het
Cdc42bpg	C	T	19: 6,371,698 (GRCm39)	P1326S	probably damaging	Het
Cdhr3	G	A	12: 33,092,379 (GRCm39)	T744I	probably benign	Het
Cit	T	G	5: 116,132,150 (GRCm39)	L1745R	probably damaging	Het
Commd6	A	T	14: 101,874,488 (GRCm39)	S39T	probably damaging	Het
Crot	T	G	5: 9,028,280 (GRCm39)	Y223S	probably benign	Het
Crybg1	G	T	10: 43,875,338 (GRCm39)	A590D	probably damaging	Het
Cwf19l2	G	A	9: 3,477,817 (GRCm39)	E841K	probably damaging	Het
Dennd4c	T	C	4: 86,717,730 (GRCm39)	Y576H	probably damaging	Het
Diaph1	A	T	18: 38,022,822 (GRCm39)	V749E	probably damaging	Het
Ell2	C	A	13: 75,910,006 (GRCm39)	L119M	probably damaging	Het
F5	A	T	1: 164,021,698 (GRCm39)	D1391V	probably damaging	Het
Foxf2	T	A	13: 31,811,180 (GRCm39)	M373K	probably benign	Het
Fstl1	A	T	16: 37,651,980 (GRCm39)	E287D	probably benign	Het
Gltpd2	T	C	11: 70,411,110 (GRCm39)	Y134H	probably damaging	Het
Hemgn	T	A	4: 46,395,997 (GRCm39)	H413L	possibly damaging	Het
Herc2	G	A	7: 55,756,201 (GRCm39)	R747H	possibly damaging	Het
Hykk	T	C	9: 54,853,793 (GRCm39)	S372P	probably benign	Het
Inava	A	G	1: 136,147,894 (GRCm39)	S353P	possibly damaging	Het
Ints10	T	C	8: 69,246,703 (GRCm39)	V11A	probably damaging	Het
Khdrbs1	A	G	4: 129,614,635 (GRCm39)	V306A	probably benign	Het
Lamtor2	G	A	3: 88,460,146 (GRCm39)	Q9*	probably null	Het
Lonp2	T	A	8: 87,350,876 (GRCm39)	V22E	probably damaging	Het
Mad1l1	T	C	5: 140,179,739 (GRCm39)	E383G	probably damaging	Het
Man2b1	T	A	8: 85,817,700 (GRCm39)		probably null	Het
Mtch1	T	C	17: 29,557,750 (GRCm39)	I243V	probably damaging	Het
Myo18a	T	A	11: 77,736,341 (GRCm39)	M1546K	probably benign	Het
Ntf3	T	C	6: 126,078,808 (GRCm39)	T233A	probably damaging	Het
Omg	T	C	11: 79,392,764 (GRCm39)	S365G	probably benign	Het
Or52ad1	C	T	7: 102,996,022 (GRCm39)	V38I	probably benign	Het
Otol1	T	A	3: 69,935,374 (GRCm39)	N455K	probably damaging	Het
Pakap	T	A	4: 57,709,973 (GRCm39)	V306D	probably damaging	Het
Pde4dip	A	T	3: 97,625,552 (GRCm39)	Y1349N	probably damaging	Het
Pitpnm2	A	G	5: 124,271,469 (GRCm39)	L368P	probably damaging	Het
Pnpla8	T	A	12: 44,330,030 (GRCm39)	I194K	possibly damaging	Het
Podn	T	C	4: 107,881,470 (GRCm39)		probably null	Het
Potefam1	A	G	2: 111,058,595 (GRCm39)		probably null	Het
Pramel6	A	T	2: 87,339,923 (GRCm39)	E229V	possibly damaging	Het
Ptpro	C	T	6: 137,426,915 (GRCm39)	P262L	probably damaging	Het
Rnf122	A	T	8: 31,608,488 (GRCm39)	T19S	probably benign	Het
Shank2	T	A	7: 143,635,585 (GRCm39)	Y320N	possibly damaging	Het
Slc2a9	A	C	5: 38,549,064 (GRCm39)	I243S	probably damaging	Het
Slc5a6	A	T	5: 31,197,749 (GRCm39)	M130K	probably benign	Het
Stx5a	A	G	19: 8,732,533 (GRCm39)		probably benign	Het
Tg	A	G	15: 66,565,207 (GRCm39)	D1183G	probably benign	Het
Thbs1	A	T	2: 117,950,433 (GRCm39)	I689F	probably damaging	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Trub2	A	T	2: 29,677,796 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,597,306 (GRCm39)	V19869A	probably damaging	Het
Tufm	T	C	7: 126,088,607 (GRCm39)	V303A	possibly damaging	Het
Vezf1	T	C	11: 87,964,145 (GRCm39)	I99T	possibly damaging	Het
Vmn2r1	T	C	3: 63,989,118 (GRCm39)	V19A	probably benign	Het
Xpc	C	T	6: 91,481,005 (GRCm39)	R289K	probably damaging	Het
Zfp811	T	A	17: 33,016,406 (GRCm39)	K545*	probably null	Het
Zmiz2	G	A	11: 6,352,413 (GRCm39)	D623N	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
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
R7254:Tbr1	UTSW	2	61,636,386 (GRCm39)	missense	probably damaging	1.00
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'- AACTAGAGGTGGCTTTCCCTC -3'
(R):5'- TTGGCCTGCTCGTAAATCCC -3'

Sequencing Primer
(F):5'- CCAAAGGGACCTCCGCG -3'
(R):5'- ATACGACAGCAGCGTGGC -3'

Posted On

2018-11-28