Mutagenetix > Incidental Mutation

Incidental Mutation 'R9607:Tbata'

723951

Institutional Source

Beutler Lab

Gene Symbol

Tbata

Ensembl Gene

ENSMUSG00000020096

Gene Name

thymus, brain and testes associated

Synonyms

1700021K02Rik, Spatial

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9607 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61007743-61024620 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61011626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 54 (H54R)

Ref Sequence

ENSEMBL: ENSMUSP00000113253 (fasta)

Gene Model

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

AlphaFold

Q7TSD4

Predicted Effect

probably benign
Transcript: ENSMUST00000035894
AA Change: H54R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036422
Gene: ENSMUSG00000020096
AA Change: H54R

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
AA Change: H59R

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000078227
Gene: ENSMUSG00000020096
AA Change: H59R

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
AA Change: H54R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113253
Gene: ENSMUSG00000020096
AA Change: H54R

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 benign
Transcript: ENSMUST00000122261
AA Change: H54R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113902
Gene: ENSMUSG00000020096
AA Change: H54R

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 benign
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
AA Change: H54R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000118942
Gene: ENSMUSG00000020096
AA Change: H54R

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: ENSMUST00000143207

Predicted Effect

probably benign
Transcript: ENSMUST00000148181

Predicted Effect

probably benign
Transcript: ENSMUST00000151886

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,914,068 (GRCm39)		probably null	Het
Atp8a1	T	C	5: 67,817,250 (GRCm39)	Y927C		Het
Bckdhb	A	G	9: 83,871,344 (GRCm39)	I208V	probably benign	Het
Cacna1g	T	C	11: 94,356,714 (GRCm39)	I141V	probably benign	Het
Celsr1	A	G	15: 85,915,229 (GRCm39)	S915P		Het
Celsr3	G	A	9: 108,717,701 (GRCm39)		probably null	Het
Cep295	A	T	9: 15,234,009 (GRCm39)	D2262E	probably damaging	Het
Chil3	T	C	3: 106,067,685 (GRCm39)	K160R	probably null	Het
Cmtr1	G	T	17: 29,893,196 (GRCm39)	A72S	probably benign	Het
Cpa5	T	C	6: 30,626,338 (GRCm39)	F233S	probably damaging	Het
Creb3l3	G	A	10: 80,920,735 (GRCm39)	R432W	probably damaging	Het
Csdc2	A	G	15: 81,831,088 (GRCm39)	D45G	possibly damaging	Het
Csmd3	G	T	15: 47,618,811 (GRCm39)	T1859K	probably damaging	Het
Cxxc1	T	C	18: 74,353,479 (GRCm39)		probably null	Het
Dcc	A	G	18: 71,721,072 (GRCm39)	S430P	probably damaging	Het
Dera	T	G	6: 137,833,732 (GRCm39)	S270A	unknown	Het
Dnaaf1	A	G	8: 120,309,350 (GRCm39)	E146G	possibly damaging	Het
Dsg4	A	T	18: 20,586,047 (GRCm39)	T246S	probably benign	Het
Eif4g3	A	G	4: 137,893,045 (GRCm39)	E766G	probably benign	Het
Ep400	A	C	5: 110,831,805 (GRCm39)	C2146G	unknown	Het
Epas1	A	T	17: 87,134,038 (GRCm39)	T516S	probably benign	Het
Espn	A	G	4: 152,219,939 (GRCm39)	S395P	probably benign	Het
Fam124b	T	A	1: 80,190,813 (GRCm39)	Q190L	probably damaging	Het
Filip1	T	A	9: 79,726,402 (GRCm39)	D739V	probably damaging	Het
Flg2	A	G	3: 93,108,719 (GRCm39)	Y249C	probably damaging	Het
Gon4l	T	A	3: 88,765,751 (GRCm39)	S391T	probably damaging	Het
Hoxa5	G	T	6: 52,181,196 (GRCm39)	Y45*	probably null	Het
Ift172	A	G	5: 31,410,913 (GRCm39)	F1715S		Het
Klhdc9	T	A	1: 171,187,124 (GRCm39)	H262L	probably damaging	Het
Krt16	C	A	11: 100,138,453 (GRCm39)	D232Y	probably damaging	Het
Lrrd1	A	G	5: 3,901,561 (GRCm39)	E622G	probably damaging	Het
Mars1	A	T	10: 127,144,493 (GRCm39)	C182*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Msrb2	C	A	2: 19,399,130 (GRCm39)	N164K	probably damaging	Het
Mtcl2	T	G	2: 156,869,488 (GRCm39)	E1049A	probably damaging	Het
Muc2	T	A	7: 141,305,190 (GRCm39)	C604S		Het
Mup17	T	C	4: 61,511,903 (GRCm39)	I124V	probably benign	Het
Myo18b	T	C	5: 113,022,544 (GRCm39)	M283V	unknown	Het
Ndn	C	T	7: 61,998,337 (GRCm39)	P61L	possibly damaging	Het
Nepro	T	C	16: 44,551,832 (GRCm39)	L230P	probably damaging	Het
Nes	A	G	3: 87,883,513 (GRCm39)	N591D	probably benign	Het
Nfrkb	T	C	9: 31,326,066 (GRCm39)	S1170P	possibly damaging	Het
Nphs1	A	T	7: 30,163,012 (GRCm39)	T430S	probably damaging	Het
Nrp1	T	C	8: 129,152,262 (GRCm39)	V157A	probably benign	Het
Nup188	T	A	2: 30,197,724 (GRCm39)	D259E	probably benign	Het
Or52n5	T	C	7: 104,588,207 (GRCm39)	M158T	probably benign	Het
Or5b109	A	T	19: 13,211,953 (GRCm39)	N113I		Het
Or8b1c	A	G	9: 38,384,913 (GRCm39)	Y290C	probably damaging	Het
Or9s18	G	T	13: 65,300,885 (GRCm39)	M282I	probably benign	Het
Pcdha8	T	A	18: 37,126,217 (GRCm39)	L233Q	probably damaging	Het
Pcdhga12	T	A	18: 37,901,389 (GRCm39)	F740L	probably damaging	Het
Pglyrp4	G	A	3: 90,638,151 (GRCm39)	G155D	probably damaging	Het
Piezo2	G	A	18: 63,519,347 (GRCm39)		probably benign	Het
Pirb	G	A	7: 3,720,617 (GRCm39)	R294C	possibly damaging	Het
Ppil1	A	T	17: 29,470,481 (GRCm39)	*167K	probably null	Het
Prdm10	G	T	9: 31,260,486 (GRCm39)	D647Y	probably damaging	Het
Prkn	A	G	17: 12,222,963 (GRCm39)	Y371C	probably damaging	Het
Prrc2b	T	A	2: 32,098,794 (GRCm39)	I702N	probably damaging	Het
Rnf26rt	A	T	6: 76,473,923 (GRCm39)	L231*	probably null	Het
Rtp4	T	A	16: 23,339,226 (GRCm39)		probably null	Het
Sema6c	A	G	3: 95,076,545 (GRCm39)	H277R	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc41a2	A	G	10: 83,119,631 (GRCm39)	L377P	probably damaging	Het
Svil	T	C	18: 5,058,126 (GRCm39)	Y630H	possibly damaging	Het
Tnfaip2	C	A	12: 111,412,069 (GRCm39)	Q157K	possibly damaging	Het
Trappc14	T	C	5: 138,259,862 (GRCm39)	D398G	probably damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Vmn2r74	T	A	7: 85,610,619 (GRCm39)	R24S	probably benign	Het
Vmn2r90	G	A	17: 17,953,638 (GRCm39)	V601M	possibly damaging	Het
Vmn2r-ps117	A	G	17: 19,043,940 (GRCm39)	T339A	probably benign	Het
Xirp2	C	T	2: 67,341,106 (GRCm39)	H1116Y	possibly damaging	Het
Xrcc1	A	G	7: 24,265,690 (GRCm39)	D156G	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
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
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

PCR Primer
(F):5'- ATAGGCACTTGAGTCCCCAG -3'
(R):5'- ATCAATCAGCGATCGACCTG -3'

Sequencing Primer
(F):5'- ACTTGAGTCCCCAGGCCTG -3'
(R):5'- TGTGGCCAGATCTTGCGC -3'

Posted On

2022-09-12