Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01569:Tbata'

91090

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbata

Ensembl Gene

ENSMUSG00000020096

Gene Name

thymus, brain and testes associated

Synonyms

1700021K02Rik, Spatial

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

IGL01569

Quality Score

Status

Chromosome

Chromosomal Location

61007743-61024620 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 61011739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 92 (R92*)

Ref Sequence

ENSEMBL: ENSMUSP00000118942 (fasta)

Gene Model

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

AlphaFold

Q7TSD4

Predicted Effect

probably null
Transcript: ENSMUST00000035894
AA Change: R92*

SMART Domains

Protein: ENSMUSP00000036422
Gene: ENSMUSG00000020096
AA Change: R92*

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: ENSMUST00000079235
AA Change: R97*

SMART Domains

Protein: ENSMUSP00000078227
Gene: ENSMUSG00000020096
AA Change: R97*

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 null
Transcript: ENSMUST00000121297
AA Change: R92*

SMART Domains

Protein: ENSMUSP00000113253
Gene: ENSMUSG00000020096
AA Change: R92*

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
AA Change: R92*

SMART Domains

Protein: ENSMUSP00000113902
Gene: ENSMUSG00000020096
AA Change: R92*

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: ENSMUST00000126831
AA Change: R7*

SMART Domains

Protein: ENSMUSP00000119957
Gene: ENSMUSG00000020096
AA Change: R7*

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

Predicted Effect

probably null
Transcript: ENSMUST00000131879
AA Change: R92*

SMART Domains

Protein: ENSMUSP00000118942
Gene: ENSMUSG00000020096
AA Change: R92*

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: ENSMUST00000151886

Predicted Effect

probably benign
Transcript: ENSMUST00000143207

Predicted Effect

probably benign
Transcript: ENSMUST00000148181

Coding Region Coverage

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,215,827 (GRCm39)	V311A	probably benign	Het
Bdh1	T	C	16: 31,273,909 (GRCm39)	M194T	probably benign	Het
Dnmbp	T	C	19: 43,863,295 (GRCm39)	R808G	probably benign	Het
Esco2	T	C	14: 66,063,977 (GRCm39)	I402M	probably benign	Het
Gm5422	T	C	10: 31,125,897 (GRCm39)		noncoding transcript	Het
Il5ra	C	A	6: 106,708,794 (GRCm39)	M1I	probably null	Het
Kcnk4	T	A	19: 6,904,545 (GRCm39)	I240F	probably damaging	Het
Mast4	T	C	13: 102,897,523 (GRCm39)	E698G	probably damaging	Het
Mkln1	A	G	6: 31,405,063 (GRCm39)		probably benign	Het
Mypn	C	T	10: 62,963,538 (GRCm39)	G978R	probably damaging	Het
Or2m12	T	C	16: 19,105,410 (GRCm39)	T28A	probably benign	Het
Podn	T	A	4: 107,881,496 (GRCm39)	Y6F	probably damaging	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Rad54l	T	C	4: 115,956,195 (GRCm39)	D544G	probably damaging	Het
Reck	C	A	4: 43,925,172 (GRCm39)	S470R	probably benign	Het
Sik3	A	G	9: 46,123,024 (GRCm39)	H891R	probably benign	Het
Tdrd1	A	G	19: 56,822,841 (GRCm39)	N103S	probably damaging	Het
Timm21	A	G	18: 84,969,400 (GRCm39)	V8A	probably benign	Het
Tnn	A	G	1: 159,948,124 (GRCm39)	V863A	possibly damaging	Het
Togaram1	A	G	12: 65,029,436 (GRCm39)	D953G	possibly damaging	Het
Tpm1	T	C	9: 66,938,390 (GRCm39)		probably null	Het
Trgv4	A	G	13: 19,369,678 (GRCm39)		probably benign	Het
Vmn1r8	A	T	6: 57,013,272 (GRCm39)	N108Y	possibly damaging	Het
Vmn1r89	T	C	7: 12,953,432 (GRCm39)	M56T	probably benign	Het
Ythdc2	A	G	18: 45,020,718 (GRCm39)	E1434G	probably benign	Het

Other mutations in Tbata

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02311:Tbata	APN	10	61,015,234 (GRCm39)	nonsense	probably null
R0417:Tbata	UTSW	10	61,016,118 (GRCm39)	missense	probably damaging	1.00
R1537:Tbata	UTSW	10	61,019,270 (GRCm39)	splice site	probably null
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

Posted On

2013-12-09