Mutagenetix > Incidental Mutation

Incidental Mutation 'R4569:Tbx21'

342024

Institutional Source

Beutler Lab

Gene Symbol

Tbx21

Ensembl Gene

ENSMUSG00000001444

Gene Name

T-box 21

Synonyms

Tbet, Tblym, TBT1, T-bet

MMRRC Submission

041793-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R4569 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96988897-97006157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 97005581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 128 (A128V)

Ref Sequence

ENSEMBL: ENSMUSP00000001484 (fasta)

Gene Model

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

AlphaFold

Q9JKD8

Predicted Effect

probably benign
Transcript: ENSMUST00000001484
AA Change: A128V

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000001484
Gene: ENSMUSG00000001444
AA Change: A128V

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

Meta Mutation Damage Score

0.0631

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (87/88)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,275,262 (GRCm39)	T322A	probably benign	Het
Abhd13	C	T	8: 10,038,071 (GRCm39)	P223S	possibly damaging	Het
Adgra3	T	A	5: 50,117,905 (GRCm39)	L1214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd13a	C	A	5: 114,927,373 (GRCm39)	P120Q	probably damaging	Het
Apbb1ip	A	G	2: 22,739,556 (GRCm39)	Y277C	probably damaging	Het
Arfgap1	T	C	2: 180,618,166 (GRCm39)		probably benign	Het
Arid2	T	A	15: 96,290,343 (GRCm39)	V1746D	probably damaging	Het
C1qtnf7	T	A	5: 43,766,549 (GRCm39)	N49K	possibly damaging	Het
Cacnb2	A	T	2: 14,990,811 (GRCm39)	D587V	possibly damaging	Het
Ccar2	A	T	14: 70,389,359 (GRCm39)		probably null	Het
Cdk2ap2	T	C	19: 4,147,879 (GRCm39)	F49L	possibly damaging	Het
Cdon	A	T	9: 35,388,265 (GRCm39)	I747F	probably damaging	Het
Cyp19a1	G	A	9: 54,100,607 (GRCm39)	P27S	probably benign	Het
Cyp4v3	T	A	8: 45,760,029 (GRCm39)	R508W	probably damaging	Het
Dclk1	T	C	3: 55,154,831 (GRCm39)	L87P	probably damaging	Het
Ddx41	G	A	13: 55,683,834 (GRCm39)	R66C	possibly damaging	Het
Dmxl1	T	C	18: 49,985,427 (GRCm39)	Y225H	probably damaging	Het
Dnah7a	G	A	1: 53,450,818 (GRCm39)	P3871S	probably benign	Het
Dnhd1	A	G	7: 105,306,373 (GRCm39)		probably null	Het
Dph1	A	T	11: 75,069,721 (GRCm39)		probably benign	Het
Egln2	A	G	7: 26,859,008 (GRCm39)	I382T	probably damaging	Het
Enpp3	A	G	10: 24,652,780 (GRCm39)	Y726H	probably damaging	Het
Fbxo32	A	G	15: 58,044,873 (GRCm39)	F353L	probably damaging	Het
Fchsd2	G	A	7: 100,926,809 (GRCm39)	G657D	possibly damaging	Het
Fer1l4	T	A	2: 155,878,559 (GRCm39)	E44V	possibly damaging	Het
Gjb2	C	T	14: 57,337,762 (GRCm39)	V149I	probably benign	Het
Glipr1l1	A	G	10: 111,898,317 (GRCm39)	M141V	probably benign	Het
Gnaq	T	C	19: 16,312,370 (GRCm39)	S211P	probably damaging	Het
Gnl1	A	G	17: 36,299,142 (GRCm39)	R527G	probably benign	Het
Gns	A	G	10: 121,217,083 (GRCm39)	Q286R	probably benign	Het
Gon4l	T	C	3: 88,817,397 (GRCm39)		probably benign	Het
Gpr107	T	C	2: 31,097,677 (GRCm39)		probably benign	Het
Gprasp1	C	T	X: 134,703,592 (GRCm39)	R1262C	probably damaging	Het
Gtf2ird1	A	T	5: 134,439,857 (GRCm39)	D124E	probably damaging	Het
Hbp1	T	A	12: 32,000,231 (GRCm39)		probably benign	Het
Hrnr	C	T	3: 93,230,875 (GRCm39)	T371I	unknown	Het
Ints2	A	G	11: 86,147,024 (GRCm39)	C41R	probably damaging	Het
Jhy	A	G	9: 40,822,389 (GRCm39)	I583T	probably benign	Het
Jph4	G	T	14: 55,352,503 (GRCm39)	R77S	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klhl12	A	T	1: 134,413,507 (GRCm39)	I331F	probably benign	Het
Map4k4	G	A	1: 40,039,698 (GRCm39)	R30Q	probably damaging	Het
Mgst1	C	A	6: 138,133,213 (GRCm39)	T176K	probably damaging	Het
Negr1	C	A	3: 156,914,013 (GRCm39)		probably benign	Het
Nrg1	C	T	8: 32,407,802 (GRCm39)	V144I	probably benign	Het
Ntmt2	T	A	1: 163,530,586 (GRCm39)	*284C	probably null	Het
Or1ad8	T	C	11: 50,898,381 (GRCm39)	I194T	possibly damaging	Het
Otog	A	G	7: 45,959,571 (GRCm39)	D720G	probably damaging	Het
Pex11b	A	T	3: 96,551,330 (GRCm39)		probably benign	Het
Phtf2	T	C	5: 20,994,593 (GRCm39)		probably benign	Het
Ppip5k1	C	T	2: 121,174,044 (GRCm39)	R359Q	possibly damaging	Het
Prickle2	T	C	6: 92,399,323 (GRCm39)	I185V	probably benign	Het
Prrc2a	G	A	17: 35,377,473 (GRCm39)	P562S	unknown	Het
Rdx	A	G	9: 51,980,141 (GRCm39)	I245V	probably benign	Het
Rem2	T	C	14: 54,715,116 (GRCm39)	S98P	probably damaging	Het
Rhob	T	G	12: 8,549,373 (GRCm39)	D87A	probably damaging	Het
Ros1	T	A	10: 52,040,090 (GRCm39)	E300D	probably damaging	Het
Sbf2	A	G	7: 109,948,060 (GRCm39)		probably null	Het
Sipa1l3	G	T	7: 29,025,287 (GRCm39)	P619Q	probably damaging	Het
Snupn	A	G	9: 56,885,346 (GRCm39)	E217G	probably benign	Het
Ston2	T	A	12: 91,606,496 (GRCm39)	*896C	probably null	Het
Stradb	C	T	1: 59,019,117 (GRCm39)	R13*	probably null	Het
Tep1	A	T	14: 51,062,197 (GRCm39)	C2552S	probably benign	Het
Tgif1	A	T	17: 71,151,912 (GRCm39)	V233E	possibly damaging	Het
Trim31	A	T	17: 37,209,633 (GRCm39)	I130L	probably benign	Het
Trrap	C	T	5: 144,728,928 (GRCm39)	T614I	probably benign	Het
Ttn	C	A	2: 76,766,758 (GRCm39)	V3107F	probably damaging	Het
Txnrd2	T	G	16: 18,274,956 (GRCm39)	D322E	probably benign	Het
Unc45b	T	A	11: 82,827,315 (GRCm39)		probably null	Het
Usp43	C	T	11: 67,789,788 (GRCm39)	C252Y	probably damaging	Het
Usp43	A	T	11: 67,766,178 (GRCm39)	L744*	probably null	Het
Vmn2r71	A	C	7: 85,273,402 (GRCm39)	K739Q	possibly damaging	Het
Vps16	C	T	2: 130,284,124 (GRCm39)	T653M	probably benign	Het
Wdr83os	T	A	8: 85,808,495 (GRCm39)	S82R	probably damaging	Het
Xpo6	T	A	7: 125,727,427 (GRCm39)	L526F	probably damaging	Het
Zfhx4	G	A	3: 5,466,894 (GRCm39)	V2351I	probably benign	Het
Zfp558	A	T	9: 18,367,799 (GRCm39)	C330S	possibly damaging	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
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
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'- AGGAAAGTCGTTGTTCCGG -3'
(R):5'- GACCAACAGCATCGTTTCTTC -3'

Sequencing Primer
(F):5'- CCGTCCTTGCTTAGTGAT -3'
(R):5'- GGGTCGCTTCCTTGGATCC -3'

Posted On

2015-09-24