Mutagenetix > Incidental Mutation

Incidental Mutation 'R7181:Tbx21'

558996

Institutional Source

Beutler Lab

Gene Symbol

Tbx21

Ensembl Gene

ENSMUSG00000001444

Gene Name

T-box 21

Synonyms

Tbet, Tblym, TBT1, T-bet

MMRRC Submission

045270-MU

Accession Numbers

Essential gene?

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

Stock #

R7181 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96988897-97006157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96989923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 423 (D423V)

Ref Sequence

ENSEMBL: ENSMUSP00000001484 (fasta)

Gene Model

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

AlphaFold

Q9JKD8

Predicted Effect

probably benign
Transcript: ENSMUST00000001484
AA Change: D423V

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000001484
Gene: ENSMUSG00000001444
AA Change: D423V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,188,037 (GRCm39)	N182D	probably benign	Het
Adgrl1	A	G	8: 84,652,878 (GRCm39)		probably null	Het
Adm	T	C	7: 110,228,236 (GRCm39)	I139T	probably damaging	Het
Ahnak	A	T	19: 8,990,852 (GRCm39)	K4045N	probably damaging	Het
Axin1	T	A	17: 26,392,752 (GRCm39)	S344R	probably damaging	Het
Cacna1g	T	C	11: 94,306,691 (GRCm39)	S1896G	probably benign	Het
Cd209c	A	G	8: 3,995,712 (GRCm39)	V30A	probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdh8	A	T	8: 99,825,557 (GRCm39)	M520K	probably benign	Het
Cyp2b23	G	A	7: 26,373,828 (GRCm39)	T306I	probably damaging	Het
Dnajc10	T	G	2: 80,149,587 (GRCm39)	Y96*	probably null	Het
Eif1ad14	G	A	12: 87,886,492 (GRCm39)	R46W	possibly damaging	Het
Elmod1	A	C	9: 53,841,382 (GRCm39)		probably null	Het
Eva1b	A	G	4: 126,043,446 (GRCm39)	H162R	possibly damaging	Het
Fam222b	A	T	11: 78,045,804 (GRCm39)	N455I	probably damaging	Het
Fer1l6	G	A	15: 58,447,146 (GRCm39)	A626T	probably benign	Het
Fgd6	A	G	10: 93,879,373 (GRCm39)	T76A	probably benign	Het
Fndc7	A	G	3: 108,788,640 (GRCm39)		probably null	Het
Gabrg2	T	A	11: 41,811,261 (GRCm39)	I295F	probably damaging	Het
Gm10406	A	T	14: 7,027,359 (GRCm38)		probably null	Het
Gm47189	T	C	14: 41,492,059 (GRCm39)	M73V	probably benign	Het
Gm9758	A	T	5: 14,963,667 (GRCm39)	S54T	probably damaging	Het
Gm9857	A	G	3: 108,847,554 (GRCm39)	S70P	unknown	Het
Gsap	A	T	5: 21,458,427 (GRCm39)	E470D	probably damaging	Het
Hesx1	T	A	14: 26,722,678 (GRCm39)	M1K	probably null	Het
Hirip3	A	G	7: 126,463,235 (GRCm39)	D397G	probably damaging	Het
Kalrn	T	A	16: 33,983,447 (GRCm39)	N13I	probably benign	Het
Mettl8	A	T	2: 70,803,706 (GRCm39)	S194T	possibly damaging	Het
Mrps35	T	G	6: 146,957,491 (GRCm39)		probably null	Het
Myrfl	G	T	10: 116,697,448 (GRCm39)	N25K	probably damaging	Het
Or51b6b	C	A	7: 103,310,020 (GRCm39)	G146C	probably damaging	Het
Or7a41	A	G	10: 78,871,287 (GRCm39)	Y219C	probably damaging	Het
Or9k2b	A	T	10: 130,016,626 (GRCm39)	I41N	possibly damaging	Het
Phf14	A	T	6: 11,933,340 (GRCm39)	E67D	unknown	Het
Prdm16	C	T	4: 154,613,094 (GRCm39)	G111D	probably damaging	Het
Prex1	G	A	2: 166,412,291 (GRCm39)	A1568V	probably damaging	Het
Ptpn23	G	A	9: 110,214,325 (GRCm39)	T1692I	unknown	Het
Ptprb	C	T	10: 116,204,671 (GRCm39)	S1835L	probably damaging	Het
Rbm19	G	A	5: 120,254,532 (GRCm39)		probably benign	Het
Rgs7bp	T	A	13: 105,119,382 (GRCm39)	H152L	possibly damaging	Het
Rmdn3	A	T	2: 118,969,849 (GRCm39)	L404Q	probably damaging	Het
Rock2	T	A	12: 17,023,144 (GRCm39)	F1148I	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sec24c	C	A	14: 20,739,401 (GRCm39)	H559N	probably damaging	Het
Sephs2	T	C	7: 126,872,992 (GRCm39)	S34G	probably benign	Het
Serpina6	A	T	12: 103,613,203 (GRCm39)	S366T	probably benign	Het
Serpinb7	A	T	1: 107,378,052 (GRCm39)	E248D	probably benign	Het
Sesn1	G	T	10: 41,779,724 (GRCm39)	R386L	possibly damaging	Het
Skida1	T	C	2: 18,051,602 (GRCm39)	S430G	unknown	Het
Slc28a2	A	T	2: 122,282,462 (GRCm39)		probably null	Het
Slc39a8	T	C	3: 135,563,299 (GRCm39)	F203S	possibly damaging	Het
Svip	A	G	7: 51,653,177 (GRCm39)	S46P	possibly damaging	Het
Tcirg1	G	A	19: 3,953,576 (GRCm39)	A117V	probably null	Het
Tmem63b	T	A	17: 45,984,094 (GRCm39)	K258N	probably benign	Het
Tmem94	A	G	11: 115,685,600 (GRCm39)	N951S	probably damaging	Het
Uba2	G	T	7: 33,840,854 (GRCm39)	D591E	probably benign	Het
Unc13b	C	T	4: 43,258,893 (GRCm39)	R1356W	probably damaging	Het
Wasf3	A	G	5: 146,403,615 (GRCm39)	T242A	probably benign	Het
Wscd1	T	C	11: 71,650,709 (GRCm39)	L12P	probably damaging	Het
Zfp770	T	C	2: 114,027,872 (GRCm39)	K66E	probably damaging	Het
Zfyve26	A	T	12: 79,315,182 (GRCm39)	D1431E	probably benign	Het
Zhx2	G	A	15: 57,686,746 (GRCm39)	R705H	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
R4847:Tbx21	UTSW	11	97,005,857 (GRCm39)	missense	probably damaging	0.99
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
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'- GGGGATATCCTCCTCCTCTTAG -3'
(R):5'- AACCAGTATCCTGTTCCCAGC -3'

Sequencing Primer
(F):5'- TCGCCTAGTCCTGAGTCG -3'
(R):5'- AGCCGTTTCTACCCCGAC -3'

Posted On

2019-06-26