Mutagenetix > Incidental Mutation

Incidental Mutation 'R7038:Tbx21'

546875

Institutional Source

Beutler Lab

Gene Symbol

Tbx21

Ensembl Gene

ENSMUSG00000001444

Gene Name

T-box 21

Synonyms

Tbet, Tblym, TBT1, T-bet

MMRRC Submission

045138-MU

Accession Numbers

Essential gene?

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

Stock #

R7038 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96988897-97006157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96990597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 329 (S329P)

Ref Sequence

ENSEMBL: ENSMUSP00000001484 (fasta)

Gene Model

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

AlphaFold

Q9JKD8

Predicted Effect

probably damaging
Transcript: ENSMUST00000001484
AA Change: S329P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001484
Gene: ENSMUSG00000001444
AA Change: S329P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (101/102)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	C	1: 156,468,979 (GRCm39)	S748P	possibly damaging	Het
Alppl2	T	C	1: 87,016,833 (GRCm39)	D104G	probably damaging	Het
Als2	C	A	1: 59,206,673 (GRCm39)	W1590L	possibly damaging	Het
Aopep	G	T	13: 63,338,339 (GRCm39)	V571F	possibly damaging	Het
Aplf	C	T	6: 87,630,805 (GRCm39)	W210*	probably null	Het
Ash1l	A	T	3: 88,889,978 (GRCm39)	H619L	probably benign	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Bpifb1	G	T	2: 154,044,589 (GRCm39)	V19F	probably damaging	Het
Capn1	A	T	19: 6,064,349 (GRCm39)	L50Q	probably benign	Het
Carmil1	A	G	13: 24,323,318 (GRCm39)	S245P	probably damaging	Het
Cavin4	A	G	4: 48,672,479 (GRCm39)	H308R	probably benign	Het
Cd4	C	T	6: 124,847,217 (GRCm39)	V316M	probably damaging	Het
Cdcp1	T	C	9: 123,002,662 (GRCm39)	Y803C	probably damaging	Het
Cep295nl	A	G	11: 118,223,815 (GRCm39)	I343T	probably benign	Het
Cgn	T	G	3: 94,670,392 (GRCm39)	T1021P	possibly damaging	Het
Cilk1	C	T	9: 78,016,484 (GRCm39)		probably benign	Het
Col6a5	A	G	9: 105,822,937 (GRCm39)	V140A	unknown	Het
Cops8	T	C	1: 90,531,320 (GRCm39)		probably benign	Het
Crhbp	A	G	13: 95,580,699 (GRCm39)	Y54H	probably damaging	Het
Cyp2c29	G	A	19: 39,275,571 (GRCm39)	V4I	probably benign	Het
Cyp2j6	T	A	4: 96,423,708 (GRCm39)	Y220F	probably benign	Het
D130043K22Rik	A	G	13: 25,077,391 (GRCm39)	D1008G	probably damaging	Het
Ddx47	T	A	6: 135,000,336 (GRCm39)	V444E	possibly damaging	Het
Dnttip2	T	A	3: 122,070,181 (GRCm39)	C465*	probably null	Het
Dst	C	A	1: 34,221,879 (GRCm39)	S2561*	probably null	Het
Dstyk	T	C	1: 132,381,847 (GRCm39)	S534P	probably benign	Het
Eif4e	A	G	3: 138,232,943 (GRCm39)		probably benign	Het
Eipr1	C	T	12: 28,801,817 (GRCm39)		probably benign	Het
Fastkd2	T	A	1: 63,771,032 (GRCm39)	D129E	possibly damaging	Het
Fndc3b	C	T	3: 27,555,618 (GRCm39)	G312D	probably benign	Het
Gab2	T	A	7: 96,952,290 (GRCm39)	I562N	probably damaging	Het
Gata5	C	A	2: 179,975,685 (GRCm39)	D160Y	possibly damaging	Het
Gcn1	G	A	5: 115,749,203 (GRCm39)	V1912I	probably damaging	Het
Gdf5	C	A	2: 155,786,655 (GRCm39)	Q107H	probably damaging	Het
Gdpd1	A	G	11: 86,926,118 (GRCm39)	Y276H	probably damaging	Het
Gins1	A	G	2: 150,759,791 (GRCm39)	Y81C	probably damaging	Het
Gm28360	T	C	1: 117,781,329 (GRCm39)	C107R	probably damaging	Het
Hadha	T	C	5: 30,324,998 (GRCm39)		probably null	Het
Hcn4	A	T	9: 58,730,867 (GRCm39)	I25F	unknown	Het
Hectd4	A	G	5: 121,437,660 (GRCm39)	Y1095C	possibly damaging	Het
Hsp90b1	A	T	10: 86,531,730 (GRCm39)	L73Q	probably damaging	Het
Hspa12a	A	G	19: 58,793,132 (GRCm39)	V351A	probably damaging	Het
Htr1b	T	A	9: 81,514,296 (GRCm39)	M104L	probably benign	Het
Igf2r	T	C	17: 12,917,212 (GRCm39)	T1563A	probably benign	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Liph	A	T	16: 21,795,009 (GRCm39)	V201E	probably damaging	Het
Ltn1	T	C	16: 87,221,759 (GRCm39)	D196G	probably damaging	Het
Med15	C	T	16: 17,470,591 (GRCm39)	D589N	possibly damaging	Het
Mknk1	A	G	4: 115,714,307 (GRCm39)	D26G	probably damaging	Het
Mpi	T	C	9: 57,452,500 (GRCm39)	D344G	probably damaging	Het
Mrc2	A	G	11: 105,223,062 (GRCm39)	E435G	possibly damaging	Het
Mrps5	A	G	2: 127,442,786 (GRCm39)	E285G	probably damaging	Het
Ms4a20	A	T	19: 11,087,675 (GRCm39)	F85L	probably benign	Het
Muc16	T	A	9: 18,531,764 (GRCm39)	M6197L	probably damaging	Het
Myo3b	A	T	2: 69,925,552 (GRCm39)	E34D	probably benign	Het
Nsd3	T	C	8: 26,131,279 (GRCm39)	S215P	probably damaging	Het
Nsmce2	T	A	15: 59,368,679 (GRCm39)		probably benign	Het
Ntan1	T	C	16: 13,644,774 (GRCm39)	S37P	probably benign	Het
Nup210l	T	A	3: 90,067,254 (GRCm39)	Y765N	probably damaging	Het
Or10q12	A	T	19: 13,745,715 (GRCm39)	D3V	probably benign	Het
Or2aa1	T	C	11: 59,480,408 (GRCm39)	Y169C	possibly damaging	Het
Or4s2b	A	T	2: 88,509,085 (GRCm39)	R288S	probably damaging	Het
Or7g30	A	C	9: 19,352,888 (GRCm39)	L226F	possibly damaging	Het
Pald1	T	C	10: 61,175,078 (GRCm39)	H724R	probably benign	Het
Pcdhb7	A	T	18: 37,475,257 (GRCm39)	D131V	possibly damaging	Het
Pds5b	G	T	5: 150,724,225 (GRCm39)	R1269S	probably benign	Het
Pikfyve	T	C	1: 65,273,520 (GRCm39)	V645A	probably damaging	Het
Plag1	G	T	4: 3,904,676 (GRCm39)	H172N	probably damaging	Het
Plch2	G	C	4: 155,074,489 (GRCm39)		probably null	Het
Plxnb1	T	A	9: 108,929,453 (GRCm39)	V103E	probably damaging	Het
Prpf8	T	A	11: 75,386,984 (GRCm39)	M1143K	probably benign	Het
Ptpn18	T	A	1: 34,498,906 (GRCm39)	M1K	probably null	Het
Rasgrf2	G	A	13: 92,130,952 (GRCm39)	T703I	possibly damaging	Het
Rassf6	A	T	5: 90,757,584 (GRCm39)	H125Q	probably benign	Het
Sdad1	A	G	5: 92,446,049 (GRCm39)		probably null	Het
Sf3a3	T	A	4: 124,622,219 (GRCm39)	F426L	probably benign	Het
Sgsm3	T	C	15: 80,892,576 (GRCm39)	F6L	possibly damaging	Het
Slc14a2	A	T	18: 78,202,252 (GRCm39)	I626N	probably damaging	Het
Slc17a8	T	C	10: 89,436,083 (GRCm39)	N165S	probably benign	Het
Slc41a1	C	A	1: 131,769,795 (GRCm39)	A305D	possibly damaging	Het
Smyd4	C	A	11: 75,281,340 (GRCm39)	P271Q	probably damaging	Het
Spag17	C	A	3: 99,891,925 (GRCm39)	H260N	probably benign	Het
Spata2	A	T	2: 167,327,283 (GRCm39)	V38E	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Syt14	T	A	1: 192,665,966 (GRCm39)		probably benign	Het
Tex2	A	T	11: 106,402,726 (GRCm39)		probably null	Het
Tmem62	A	G	2: 120,824,058 (GRCm39)	I244M	possibly damaging	Het
Tnks	A	T	8: 35,318,790 (GRCm39)	N830K	probably damaging	Het
Tox2	A	G	2: 163,156,264 (GRCm39)	E145G	probably damaging	Het
Tpcn1	T	C	5: 120,723,342 (GRCm39)	D7G	probably damaging	Het
Ttc28	T	A	5: 111,414,445 (GRCm39)	M1320K	probably benign	Het
Tubgcp5	T	G	7: 55,455,114 (GRCm39)	V270G	probably damaging	Het
Unc5a	A	G	13: 55,152,297 (GRCm39)	R62G	probably damaging	Het
Unc5d	A	G	8: 29,205,749 (GRCm39)		probably null	Het
Utrn	T	C	10: 12,558,082 (GRCm39)	H1459R	probably damaging	Het
Vmn2r100	T	A	17: 19,725,263 (GRCm39)	L64Q	possibly damaging	Het
Wdr55	T	G	18: 36,893,473 (GRCm39)	L45R	probably damaging	Het
Zfp292	A	G	4: 34,816,357 (GRCm39)	Y306H	probably damaging	Het
Zfp398	G	T	6: 47,843,243 (GRCm39)	D300Y	probably damaging	Het
Zfp407	A	G	18: 84,579,982 (GRCm39)	V377A	probably damaging	Het
Zfp457	G	A	13: 67,441,997 (GRCm39)	H97Y	probably benign	Het
Zfp467	T	C	6: 48,415,072 (GRCm39)	T527A	probably 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
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
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'- ACTCGTATCAACAGATGCGTAC -3'
(R):5'- AGTGACTGCCTACCAGAACG -3'

Sequencing Primer
(F):5'- CTGAAGACAGCTACTGTGTACTCG -3'
(R):5'- CCTACCAGAACGCAGAGGTG -3'

Posted On

2019-05-13