Mutagenetix > Incidental Mutation

Incidental Mutation 'R4847:Tbx21'

373322

Institutional Source

Beutler Lab

Gene Symbol

Tbx21

Ensembl Gene

ENSMUSG00000001444

Gene Name

T-box 21

Synonyms

Tbet, Tblym, TBT1, T-bet

MMRRC Submission

042460-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

R4847 (G1)

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

96988897-97006157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97005857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 36 (Y36C)

Ref Sequence

ENSEMBL: ENSMUSP00000001484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001484]

AlphaFold

Q9JKD8

Predicted Effect

probably damaging
Transcript: ENSMUST00000001484
AA Change: Y36C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001484
Gene: ENSMUSG00000001444
AA Change: Y36C

Domain	Start	End	E-Value	Type
low complexity region	83	100	N/A	INTRINSIC
TBOX	135	330	4.82e-111	SMART
low complexity region	498	515	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119164

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

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 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 is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display defects in the production of NK and NK-T cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	C	T	11: 80,264,940 (GRCm39)	V171M	probably damaging	Het
Abhd3	A	G	18: 10,647,786 (GRCm39)	S328P	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Aldh1b1	G	T	4: 45,802,625 (GRCm39)	K54N	possibly damaging	Het
Amacr	C	T	15: 10,994,958 (GRCm39)	Q257*	probably null	Het
Ankrd12	A	T	17: 66,331,087 (GRCm39)	D309E	probably benign	Het
Anks6	T	C	4: 47,033,266 (GRCm39)	T600A	probably benign	Het
Ap3b1	A	G	13: 94,608,287 (GRCm39)	E586G	probably benign	Het
Atad2b	A	G	12: 4,994,901 (GRCm39)		probably null	Het
Cant1	G	A	11: 118,300,936 (GRCm39)	Q240*	probably null	Het
Cep152	T	C	2: 125,460,394 (GRCm39)	Y186C	possibly damaging	Het
Cep76	C	A	18: 67,752,639 (GRCm39)	R603I	probably benign	Het
Chad	T	C	11: 94,459,153 (GRCm39)	S352P	probably benign	Het
Ckap2	T	C	8: 22,665,084 (GRCm39)	E460G	probably damaging	Het
Col22a1	T	C	15: 71,671,348 (GRCm39)	Y1004C	unknown	Het
Col9a3	G	A	2: 180,257,318 (GRCm39)	G480S	probably damaging	Het
Cpsf2	A	G	12: 101,963,561 (GRCm39)	D430G	probably benign	Het
Cramp1	T	C	17: 25,204,063 (GRCm39)	D305G	probably damaging	Het
Ctnnd1	C	A	2: 84,452,396 (GRCm39)	E76*	probably null	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2c39	A	T	19: 39,549,340 (GRCm39)	N286I	probably damaging	Het
Ddx11	A	G	17: 66,437,796 (GRCm39)	E174G	probably damaging	Het
Ddx19a	T	C	8: 111,703,677 (GRCm39)	E369G	probably damaging	Het
Dnai7	T	A	6: 145,120,911 (GRCm39)	H636L	probably damaging	Het
Epha1	T	A	6: 42,338,848 (GRCm39)	D687V	possibly damaging	Het
Fgr	T	C	4: 132,721,959 (GRCm39)	W132R	probably damaging	Het
Fras1	A	T	5: 96,692,851 (GRCm39)	D170V	possibly damaging	Het
Gas2l1	A	G	11: 5,014,173 (GRCm39)	S96P	probably damaging	Het
Gfy	G	A	7: 44,827,020 (GRCm39)	P359S	probably damaging	Het
Hexim2	A	G	11: 103,029,767 (GRCm39)	N273S	probably benign	Het
Hr	A	T	14: 70,793,916 (GRCm39)	T59S	probably benign	Het
Ift70a2	A	T	2: 75,808,058 (GRCm39)	N151K	probably benign	Het
Impdh2	A	G	9: 108,441,870 (GRCm39)	Y166C	probably damaging	Het
Impdh2	T	A	9: 108,442,714 (GRCm39)	F514Y	probably benign	Het
Iqgap2	A	G	13: 95,810,251 (GRCm39)	F731S	probably benign	Het
Klhl17	A	T	4: 156,316,054 (GRCm39)	H433Q	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kntc1	A	C	5: 123,940,337 (GRCm39)	N1645T	probably benign	Het
Mcm8	A	G	2: 132,661,923 (GRCm39)	I114V	probably benign	Het
Mink1	T	A	11: 70,492,854 (GRCm39)	L160Q	probably damaging	Het
Mipol1	A	T	12: 57,350,282 (GRCm39)	S27C	probably damaging	Het
Mthfr	T	C	4: 148,132,596 (GRCm39)	V217A	probably damaging	Het
Or5b105	A	G	19: 13,079,898 (GRCm39)	Y257H	probably damaging	Het
Or5p53	T	A	7: 107,533,034 (GRCm39)	C102*	probably null	Het
Pde1c	T	C	6: 56,100,019 (GRCm39)	K614E	possibly damaging	Het
Pds5b	A	T	5: 150,671,577 (GRCm39)	E407V	probably damaging	Het
Pdzph1	A	G	17: 59,280,525 (GRCm39)	S586P	possibly damaging	Het
Prkcb	C	T	7: 122,167,372 (GRCm39)	R361W	probably benign	Het
Psen2	T	A	1: 180,073,197 (GRCm39)		probably null	Het
Ptk2	T	A	15: 73,103,805 (GRCm39)	M82L	probably benign	Het
Ptk2b	T	C	14: 66,411,331 (GRCm39)	D400G	probably damaging	Het
Samd8	G	A	14: 21,842,503 (GRCm39)	R275Q	possibly damaging	Het
Senp2	A	G	16: 21,857,386 (GRCm39)	T403A	possibly damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Skap2	T	A	6: 51,980,649 (GRCm39)	I52L	probably benign	Het
Slc5a7	T	C	17: 54,584,168 (GRCm39)	D374G	possibly damaging	Het
Slmap	A	T	14: 26,147,763 (GRCm39)	L699M	possibly damaging	Het
Sntg1	A	C	1: 8,665,706 (GRCm39)	C203G	possibly damaging	Het
Stard9	T	C	2: 120,533,594 (GRCm39)	S3284P	probably benign	Het
Tecpr2	A	G	12: 110,906,311 (GRCm39)	Y971C	probably damaging	Het
Trpm5	T	A	7: 142,641,500 (GRCm39)	I137F	possibly damaging	Het
Unk	A	G	11: 115,945,232 (GRCm39)	K426E	probably damaging	Het
Zc3hc1	T	C	6: 30,375,981 (GRCm39)	D193G	probably benign	Het

Other mutations in Tbx21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Tbx21	APN	11	96,989,749 (GRCm39)	missense	probably damaging	0.97
IGL00957:Tbx21	APN	11	96,989,920 (GRCm39)	missense	probably benign	0.00
IGL00975:Tbx21	APN	11	96,990,908 (GRCm39)	missense	possibly damaging	0.54
IGL02015:Tbx21	APN	11	96,989,740 (GRCm39)	missense	probably benign
IGL02930:Tbx21	APN	11	96,990,865 (GRCm39)	missense	probably damaging	1.00
IGL03378:Tbx21	APN	11	97,005,567 (GRCm39)	missense	probably benign	0.01
Chomolungma	UTSW	11	96,990,782 (GRCm39)	missense	possibly damaging	0.54
plateau	UTSW	11	96,992,304 (GRCm39)	critical splice donor site	probably null
Uncia	UTSW	11	96,990,808 (GRCm39)	missense	possibly damaging	0.84
Yeti	UTSW	11	96,989,923 (GRCm39)	missense	probably benign	0.10
R1923:Tbx21	UTSW	11	96,990,863 (GRCm39)	missense	probably damaging	1.00
R4569:Tbx21	UTSW	11	97,005,581 (GRCm39)	missense	probably benign	0.11
R4662:Tbx21	UTSW	11	96,992,393 (GRCm39)	missense	probably benign	0.01
R5049:Tbx21	UTSW	11	97,005,536 (GRCm39)	missense	probably benign	0.08
R5364:Tbx21	UTSW	11	96,992,304 (GRCm39)	critical splice donor site	probably null
R5873:Tbx21	UTSW	11	97,005,474 (GRCm39)	critical splice donor site	probably null
R6064:Tbx21	UTSW	11	97,005,737 (GRCm39)	missense	probably damaging	0.96
R6516:Tbx21	UTSW	11	96,990,782 (GRCm39)	missense	possibly damaging	0.54
R6786:Tbx21	UTSW	11	97,005,872 (GRCm39)	missense	possibly damaging	0.88
R7038:Tbx21	UTSW	11	96,990,597 (GRCm39)	missense	probably damaging	1.00
R7050:Tbx21	UTSW	11	97,005,596 (GRCm39)	missense	probably benign	0.03
R7062:Tbx21	UTSW	11	96,989,719 (GRCm39)	missense	probably damaging	1.00
R7181:Tbx21	UTSW	11	96,989,923 (GRCm39)	missense	probably benign	0.10
R8421:Tbx21	UTSW	11	97,005,561 (GRCm39)	missense	probably benign	0.01
R8475:Tbx21	UTSW	11	96,990,808 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- ACTTGGACCACAACAGGTG -3'
(R):5'- TTTCATTGGTCTTCGGACGC -3'

Sequencing Primer
(F):5'- AATGCGTAGTCCTCGCG -3'
(R):5'- TAAGGACCCTCGGGTCTCT -3'

Posted On

2016-03-01