Mutagenetix > Incidental Mutation

Incidental Mutation 'R1537:Tbata'

262833

Institutional Source

Beutler Lab

Gene Symbol

Tbata

Ensembl Gene

ENSMUSG00000020096

Gene Name

thymus, brain and testes associated

Synonyms

1700021K02Rik, Spatial

MMRRC Submission

039576-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R1537 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

61007743-61024620 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 61019270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113902 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035894] [ENSMUST00000035894] [ENSMUST00000079235] [ENSMUST00000121297] [ENSMUST00000122261] [ENSMUST00000122261] [ENSMUST00000126831] [ENSMUST00000131879] [ENSMUST00000140456] [ENSMUST00000148181] [ENSMUST00000143207] [ENSMUST00000151886]

AlphaFold

Q7TSD4

Predicted Effect

probably null
Transcript: ENSMUST00000035894

SMART Domains

Protein: ENSMUSP00000036422
Gene: ENSMUSG00000020096

Domain	Start	End	E-Value	Type
low complexity region	58	70	N/A	INTRINSIC
low complexity region	73	87	N/A	INTRINSIC
Pfam:SPATIAL	123	316	2.8e-64	PFAM
low complexity region	335	346	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000035894

SMART Domains

Protein: ENSMUSP00000036422
Gene: ENSMUSG00000020096

Domain	Start	End	E-Value	Type
low complexity region	58	70	N/A	INTRINSIC
low complexity region	73	87	N/A	INTRINSIC
Pfam:SPATIAL	123	316	2.8e-64	PFAM
low complexity region	335	346	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079235

SMART Domains

Protein: ENSMUSP00000078227
Gene: ENSMUSG00000020096

Domain	Start	End	E-Value	Type
low complexity region	63	75	N/A	INTRINSIC
low complexity region	78	92	N/A	INTRINSIC
Pfam:SPATIAL	128	230	2.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121297

SMART Domains

Protein: ENSMUSP00000113253
Gene: ENSMUSG00000020096

Domain	Start	End	E-Value	Type
low complexity region	58	70	N/A	INTRINSIC
Pfam:SPATIAL	82	191	2.2e-34	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000122261

SMART Domains

Protein: ENSMUSP00000113902
Gene: ENSMUSG00000020096

Domain	Start	End	E-Value	Type
low complexity region	58	70	N/A	INTRINSIC
Pfam:SPATIAL	82	282	6.7e-76	PFAM
low complexity region	301	312	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000122261

SMART Domains

Protein: ENSMUSP00000113902
Gene: ENSMUSG00000020096

Domain	Start	End	E-Value	Type
low complexity region	58	70	N/A	INTRINSIC
Pfam:SPATIAL	82	282	6.7e-76	PFAM
low complexity region	301	312	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000126831

SMART Domains

Protein: ENSMUSP00000119957
Gene: ENSMUSG00000020096

Domain	Start	End	E-Value	Type
Pfam:SPATIAL	1	155	1.9e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131879

SMART Domains

Protein: ENSMUSP00000118942
Gene: ENSMUSG00000020096

Domain	Start	End	E-Value	Type
low complexity region	58	70	N/A	INTRINSIC
low complexity region	73	87	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140456

Predicted Effect

probably benign
Transcript: ENSMUST00000148181

Predicted Effect

probably benign
Transcript: ENSMUST00000143207

Predicted Effect

probably benign
Transcript: ENSMUST00000151886

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a putative transcription factor that is highly expressed in thymic cortical stromal cells, and may be involved in T-cell development. Its expression is developmentally regulated in the testis, where it is restricted to the haploid round spermatids during spermatogenesis, and thus this gene may also have a role in the control of male germ cell development. Alternative splicing of this gene results in two sets of transcript variants: the variants containing 5 additional exons at the 3' end encode long isoforms that are highly expressed in the testis, while the variants lacking the 3' end exons encode short isoforms that are highly expressed in the thymus. Most of the transcripts encoding the short isoforms have been shown to initiate translation from non-AUG (CUG) start sites. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased thymic pithelial cells and total thymocyte numbers without altering T cell development and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,372,124 (GRCm39)	H86L	possibly damaging	Het
4930519G04Rik	A	G	5: 115,008,278 (GRCm39)	T31A	probably benign	Het
Ahcyl1	A	G	3: 107,603,505 (GRCm39)	F30S	probably benign	Het
Alox5ap	G	A	5: 149,201,993 (GRCm39)		probably null	Het
Amtn	A	G	5: 88,526,729 (GRCm39)	S53G	probably null	Het
Arap3	A	T	18: 38,122,737 (GRCm39)		probably null	Het
Ash1l	T	A	3: 88,979,783 (GRCm39)	V2769E	probably damaging	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
Bhlha9	C	T	11: 76,563,457 (GRCm39)	S28L	probably benign	Het
Bltp2	T	A	11: 78,180,169 (GRCm39)	Y2150N	probably damaging	Het
Bmpr2	A	G	1: 59,907,285 (GRCm39)	T793A	probably benign	Het
Ccdc80	G	A	16: 44,916,299 (GRCm39)	A352T	probably benign	Het
Chst2	A	T	9: 95,288,194 (GRCm39)	F51I	probably benign	Het
Col14a1	A	G	15: 55,244,163 (GRCm39)	N412S	unknown	Het
Dclk2	T	C	3: 86,713,491 (GRCm39)	I451V	probably damaging	Het
Ddb2	A	G	2: 91,065,234 (GRCm39)	S64P	probably benign	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Dnai3	T	C	3: 145,748,504 (GRCm39)	E870G	probably damaging	Het
Dusp4	G	T	8: 35,285,570 (GRCm39)	R277L	probably benign	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Garem1	A	T	18: 21,301,931 (GRCm39)		probably null	Het
Gnpat	A	G	8: 125,597,555 (GRCm39)	E39G	probably damaging	Het
Golgb1	A	T	16: 36,719,150 (GRCm39)	Q352L	possibly damaging	Het
Hdlbp	T	C	1: 93,345,096 (GRCm39)	D803G	probably benign	Het
Hps1	A	G	19: 42,748,143 (GRCm39)		probably null	Het
Ilvbl	G	A	10: 78,415,565 (GRCm39)	R327H	probably benign	Het
Itpr3	A	G	17: 27,333,121 (GRCm39)	D1911G	possibly damaging	Het
Lmo7	T	A	14: 102,166,700 (GRCm39)		probably benign	Het
Mcm10	G	A	2: 5,003,591 (GRCm39)	T542I	possibly damaging	Het
Med1	A	G	11: 98,051,772 (GRCm39)	V497A	probably damaging	Het
Mn1	G	A	5: 111,602,646 (GRCm39)	A1295T	probably damaging	Het
Myh7b	A	C	2: 155,473,707 (GRCm39)	D1580A	probably damaging	Het
Naa20	A	G	2: 145,754,438 (GRCm39)	I101V	probably benign	Het
Nav3	T	C	10: 109,702,846 (GRCm39)	Y229C	probably damaging	Het
Obscn	T	C	11: 58,891,575 (GRCm39)	R6986G	unknown	Het
Or51h7	G	A	7: 102,591,547 (GRCm39)	T79I	probably damaging	Het
Or8b4	A	G	9: 37,830,570 (GRCm39)	I211V	probably benign	Het
P2rx3	A	G	2: 84,853,825 (GRCm39)		probably null	Het
Pcdhac2	G	A	18: 37,279,539 (GRCm39)	G840R	possibly damaging	Het
Pclo	A	G	5: 14,762,489 (GRCm39)	N3654S	unknown	Het
Pcnx2	T	A	8: 126,604,188 (GRCm39)	E689D	possibly damaging	Het
Pds5a	A	G	5: 65,804,464 (GRCm39)	S532P	probably benign	Het
Phf1	G	A	17: 27,154,372 (GRCm39)		probably null	Het
Pkp4	G	A	2: 59,045,147 (GRCm39)	V41M	probably damaging	Het
Prlr	T	G	15: 10,328,364 (GRCm39)		probably null	Het
Prr12	G	T	7: 44,678,366 (GRCm39)	A1954D	unknown	Het
Prtg	A	G	9: 72,717,039 (GRCm39)	T127A	probably benign	Het
Ptprh	A	G	7: 4,552,698 (GRCm39)	L884P	probably damaging	Het
Rnf170	T	A	8: 26,629,076 (GRCm39)	D183E	probably benign	Het
Rrp12	A	T	19: 41,875,242 (GRCm39)	H339Q	probably damaging	Het
Rubcnl	T	G	14: 75,278,267 (GRCm39)	S350R	possibly damaging	Het
Sgo2b	T	A	8: 64,379,536 (GRCm39)	T1099S	possibly damaging	Het
Ska2	T	C	11: 87,006,945 (GRCm39)	S17P	probably damaging	Het
Slc38a2	A	G	15: 96,591,034 (GRCm39)	I243T	possibly damaging	Het
Sptan1	T	A	2: 29,916,034 (GRCm39)	D2007E	possibly damaging	Het
Taar5	T	A	10: 23,846,620 (GRCm39)	L6H	probably benign	Het
Tent2	C	T	13: 93,312,076 (GRCm39)	G208D	probably damaging	Het
Tmem107	T	C	11: 68,963,284 (GRCm39)	S98P	probably damaging	Het
Tpst2	A	G	5: 112,456,286 (GRCm39)	D275G	possibly damaging	Het
Ttc28	G	T	5: 111,433,184 (GRCm39)	G2073W	probably damaging	Het
Ttc7	T	C	17: 87,629,891 (GRCm39)	V291A	possibly damaging	Het
Vps13b	T	A	15: 35,792,327 (GRCm39)	N2198K	possibly damaging	Het
Wdr37	A	T	13: 8,887,039 (GRCm39)	D249E	probably benign	Het
Xirp2	G	T	2: 67,340,357 (GRCm39)	C866F	probably damaging	Het
Zfp990	A	G	4: 145,263,566 (GRCm39)	E188G	possibly damaging	Het
Zkscan2	A	G	7: 123,099,064 (GRCm39)	S43P	possibly damaging	Het
Zscan5b	A	G	7: 6,236,850 (GRCm39)	R200G	probably benign	Het

Other mutations in Tbata

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01569:Tbata	APN	10	61,011,739 (GRCm39)	nonsense	probably null
IGL02311:Tbata	APN	10	61,015,234 (GRCm39)	nonsense	probably null
R0417:Tbata	UTSW	10	61,016,118 (GRCm39)	missense	probably damaging	1.00
R1956:Tbata	UTSW	10	61,019,256 (GRCm39)	missense	probably damaging	0.99
R1959:Tbata	UTSW	10	61,011,623 (GRCm39)	missense	possibly damaging	0.86
R2138:Tbata	UTSW	10	61,015,063 (GRCm39)	missense	probably benign	0.40
R4835:Tbata	UTSW	10	61,019,132 (GRCm39)	missense	probably damaging	1.00
R6261:Tbata	UTSW	10	61,011,644 (GRCm39)	missense	possibly damaging	0.92
R6667:Tbata	UTSW	10	61,021,142 (GRCm39)	missense	probably damaging	1.00
R7355:Tbata	UTSW	10	61,010,099 (GRCm39)	unclassified	probably benign
R7863:Tbata	UTSW	10	61,011,521 (GRCm39)	missense	probably benign	0.02
R9607:Tbata	UTSW	10	61,011,626 (GRCm39)	missense	probably benign
X0066:Tbata	UTSW	10	61,024,384 (GRCm39)	missense	probably damaging	1.00
Z1191:Tbata	UTSW	10	61,022,172 (GRCm39)	missense	probably benign	0.12

Predicted Primers

Posted On

2015-02-04