Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02336:Tbr1'

288832

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbr1

Ensembl Gene

ENSMUSG00000035033

Gene Name

T-box brain transcription factor 1

Synonyms

T-box brain gene 1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02336

Quality Score

Status

Chromosome

Chromosomal Location

61633274-61644458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 61635336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 95 (H95Q)

Ref Sequence

ENSEMBL: ENSMUSP00000046787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028278] [ENSMUST00000048934] [ENSMUST00000102737]

AlphaFold

Q64336

Predicted Effect

probably benign
Transcript: ENSMUST00000028278

SMART Domains

Protein: ENSMUSP00000028278
Gene: ENSMUSG00000026914

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
JAB_MPN	30	165	3.71e-49	SMART
Pfam:MitMem_reg	173	307	9e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048934
AA Change: H95Q

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046787
Gene: ENSMUSG00000035033
AA Change: H95Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131538

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136867

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154627

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 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
Accsl	A	G	2: 93,696,253 (GRCm39)	V119A	possibly damaging	Het
Adamts12	T	A	15: 11,311,331 (GRCm39)	M1196K	probably benign	Het
Adgre1	T	A	17: 57,718,024 (GRCm39)	C345*	probably null	Het
Adrb2	T	C	18: 62,312,078 (GRCm39)	E249G	probably benign	Het
Amdhd1	T	A	10: 93,360,291 (GRCm39)	I423F	probably benign	Het
Ankhd1	A	G	18: 36,727,867 (GRCm39)	N501S	probably damaging	Het
Bltp2	T	C	11: 78,179,858 (GRCm39)	V2127A	probably damaging	Het
Cd180	T	A	13: 102,841,821 (GRCm39)	I289N	probably damaging	Het
Chst5	T	A	8: 112,616,949 (GRCm39)	I224F	probably damaging	Het
Cox6a2	A	G	7: 127,805,103 (GRCm39)	I60T	possibly damaging	Het
Dnajc6	C	T	4: 101,471,483 (GRCm39)		probably null	Het
Dpp6	G	A	5: 27,674,409 (GRCm39)	E179K	probably benign	Het
Fasn	G	A	11: 120,704,562 (GRCm39)	T1341I	possibly damaging	Het
Fat1	C	T	8: 45,404,620 (GRCm39)	T457I	probably benign	Het
Filip1l	A	T	16: 57,392,096 (GRCm39)		probably null	Het
Gje1	A	T	10: 14,592,413 (GRCm39)	I123N	probably damaging	Het
Gli3	A	G	13: 15,894,874 (GRCm39)	T683A	probably damaging	Het
Gm29326	C	A	7: 29,260,833 (GRCm39)		noncoding transcript	Het
Gm5460	A	G	14: 33,765,909 (GRCm39)		probably benign	Het
Hspa4	C	T	11: 53,153,200 (GRCm39)	S739N	probably benign	Het
Ighv1-42	T	A	12: 114,900,885 (GRCm39)	I67F	probably damaging	Het
Iqgap1	A	G	7: 80,402,041 (GRCm39)	V408A	probably benign	Het
Kdm7a	A	T	6: 39,147,198 (GRCm39)	W250R	probably damaging	Het
Kif5a	A	G	10: 127,078,565 (GRCm39)	I360T	possibly damaging	Het
Maml1	T	C	11: 50,148,992 (GRCm39)	N916S	probably benign	Het
Mier2	A	T	10: 79,384,184 (GRCm39)		probably benign	Het
Mpst	A	T	15: 78,294,474 (GRCm39)	T69S	probably benign	Het
Nlk	C	A	11: 78,477,763 (GRCm39)	V327F	probably damaging	Het
Nme5	A	T	18: 34,711,730 (GRCm39)	S4T	probably benign	Het
Notch2	A	G	3: 98,045,711 (GRCm39)	I1625M	possibly damaging	Het
Nup210l	T	C	3: 90,088,859 (GRCm39)		probably null	Het
Oas1d	A	G	5: 121,057,111 (GRCm39)	E239G	probably damaging	Het
Olfm4	T	C	14: 80,243,761 (GRCm39)	S110P	probably damaging	Het
Or52e2	T	C	7: 102,804,772 (GRCm39)	M61V	probably benign	Het
Parn	T	A	16: 13,384,567 (GRCm39)	I499F	probably damaging	Het
Ppargc1a	G	A	5: 51,653,068 (GRCm39)	Q165*	probably null	Het
Ppp1r12b	T	A	1: 134,814,244 (GRCm39)	E353V	probably damaging	Het
Prkdc	A	G	16: 15,603,842 (GRCm39)	Q2952R	possibly damaging	Het
Prkdc	G	T	16: 15,603,843 (GRCm39)	Q2952H	probably benign	Het
Qars1	G	T	9: 108,392,185 (GRCm39)	E143*	probably null	Het
Reln	A	G	5: 22,134,132 (GRCm39)	Y2599H	probably damaging	Het
Rnf123	T	C	9: 107,939,041 (GRCm39)	E803G	probably damaging	Het
Rnf141	G	A	7: 110,436,405 (GRCm39)	Q8*	probably null	Het
Rnf167	A	G	11: 70,540,952 (GRCm39)	I193V	probably benign	Het
Rprd2	A	T	3: 95,694,622 (GRCm39)	M137K	probably benign	Het
Rtf1	T	G	2: 119,559,226 (GRCm39)		probably benign	Het
Serpina1d	T	A	12: 103,731,055 (GRCm39)	R308*	probably null	Het
Smg7	T	C	1: 152,719,030 (GRCm39)	Y899C	probably benign	Het
Tcf19	A	T	17: 35,825,380 (GRCm39)		probably null	Het
Timm44	T	A	8: 4,317,692 (GRCm39)	R210W	probably damaging	Het
Trnau1ap	C	A	4: 132,041,331 (GRCm39)	E194*	probably null	Het
Trp63	G	A	16: 25,639,192 (GRCm39)	G127S	probably damaging	Het
Trrap	C	T	5: 144,735,200 (GRCm39)	A989V	probably benign	Het
Ttn	T	C	2: 76,600,326 (GRCm39)	D18988G	probably damaging	Het
Tubb4b-ps1	T	A	5: 7,229,952 (GRCm39)		probably benign	Het
Vmn1r77	G	A	7: 11,775,223 (GRCm39)		probably null	Het
Vmn1r80	A	G	7: 11,927,181 (GRCm39)	Y97C	probably benign	Het
Vmn2r77	G	A	7: 86,451,224 (GRCm39)	C370Y	probably damaging	Het
Xntrpc	C	A	7: 101,733,492 (GRCm39)	A147D	probably damaging	Het
Zc3h4	C	T	7: 16,159,702 (GRCm39)	S424F	unknown	Het
Zcwpw1	T	A	5: 137,808,376 (GRCm39)	S275T	probably damaging	Het
Zfp979	C	T	4: 147,699,808 (GRCm39)	C44Y	probably damaging	Het
Zscan20	T	C	4: 128,479,587 (GRCm39)	H968R	probably damaging	Het
Zswim3	T	C	2: 164,662,297 (GRCm39)	V259A	probably damaging	Het
Zzz3	T	G	3: 152,133,696 (GRCm39)	D251E	possibly 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
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
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

Posted On

2015-04-16