Mutagenetix > Incidental Mutation

Incidental Mutation 'R1956:Tbata'

217811

Institutional Source

Beutler Lab

Gene Symbol

Tbata

Ensembl Gene

ENSMUSG00000020096

Gene Name

thymus, brain and testes associated

Synonyms

Spatial, 1700021K02Rik

MMRRC Submission

039970-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R1956 (G1)

Quality Score

154

Status

Not validated

Chromosome

Chromosomal Location

61171954-61188841 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 61183477 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 271 (D271N)

Ref Sequence

ENSEMBL: ENSMUSP00000036422 (fasta)

Gene Model

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

AlphaFold

Q7TSD4

Predicted Effect

probably damaging
Transcript: ENSMUST00000035894
AA Change: D271N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000036422
Gene: ENSMUSG00000020096
AA Change: D271N

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 damaging
Transcript: ENSMUST00000122261
AA Change: D237N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113902
Gene: ENSMUSG00000020096
AA Change: D237N

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

possibly damaging
Transcript: ENSMUST00000126831
AA Change: D151N

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119957
Gene: ENSMUSG00000020096
AA Change: D151N

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: ENSMUST00000143207

Predicted Effect

probably benign
Transcript: ENSMUST00000148181

Predicted Effect

probably benign
Transcript: ENSMUST00000151886

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	T	4: 42,970,105		probably null	Het
2610044O15Rik8	A	T	8: 129,221,828	D41E	possibly damaging	Het
Aard	A	T	15: 52,044,920	D157V	probably damaging	Het
Abcg5	A	G	17: 84,670,375	V151A	probably damaging	Het
Acss3	A	G	10: 106,936,168	V682A	probably benign	Het
Adamts9	A	T	6: 92,859,849	C641S	probably damaging	Het
Adipor1	T	C	1: 134,423,033	S7P	probably benign	Het
Ankrd27	T	A	7: 35,603,839	Y215N	probably damaging	Het
Arhgef7	T	A	8: 11,805,266	L182Q	probably damaging	Het
Arnt	C	T	3: 95,448,393	S16L	possibly damaging	Het
Arrdc4	T	C	7: 68,741,799	K240R	probably benign	Het
Atg2b	T	C	12: 105,669,418	Y197C	probably damaging	Het
Atp13a2	A	G	4: 141,004,261	K907R	possibly damaging	Het
Cadps2	A	T	6: 23,287,686	M1160K	probably damaging	Het
Ccdc105	A	G	10: 78,750,539		probably null	Het
Cdk12	A	G	11: 98,219,216	T688A	probably benign	Het
Cfap43	T	A	19: 47,897,210	Y322F	probably benign	Het
Crabp2	T	C	3: 87,948,886	F16L	probably damaging	Het
Creb3	A	G	4: 43,563,279		probably null	Het
Crk	T	C	11: 75,692,670	Y239H	possibly damaging	Het
Cyp3a13	A	G	5: 137,909,942	I215T	probably benign	Het
D130043K22Rik	A	G	13: 24,885,595	Y879C	probably damaging	Het
Depdc5	T	C	5: 32,903,831	V334A	probably damaging	Het
Dgkh	T	C	14: 78,618,541	N231S	probably damaging	Het
Disp2	T	A	2: 118,792,223	H1145Q	probably benign	Het
Epb41l4b	T	C	4: 57,038,553	T563A	possibly damaging	Het
Ephb3	G	A	16: 21,221,382	R498H	probably damaging	Het
F10	T	C	8: 13,055,422	I329T	probably damaging	Het
Fam13b	G	T	18: 34,445,329	Q760K	possibly damaging	Het
Fmo4	G	A	1: 162,803,690	T236I	probably benign	Het
Foxp4	C	T	17: 47,875,871	R378Q	unknown	Het
Fpr-rs4	A	G	17: 18,022,256	Y175C	probably damaging	Het
Fzd8	T	A	18: 9,214,502	M528K	probably damaging	Het
Gcc2	A	G	10: 58,286,143	H1134R	possibly damaging	Het
Gdf10	G	A	14: 33,932,753	A406T	probably benign	Het
Ggn	T	A	7: 29,171,916	S240R	probably damaging	Het
Git2	C	T	5: 114,749,337	W299*	probably null	Het
Gm42669	A	T	5: 107,508,872	E355D	possibly damaging	Het
Gm5134	T	C	10: 76,004,846	F508S	possibly damaging	Het
Gm9923	G	T	10: 72,309,660	V114L	probably benign	Het
Has3	A	T	8: 106,878,803	Y547F	probably benign	Het
Heatr5a	A	G	12: 51,945,419		probably null	Het
Hnrnpk	A	T	13: 58,396,186		probably null	Het
Ifna4	A	T	4: 88,842,074	I72F	probably damaging	Het
Ip6k3	A	T	17: 27,151,168	L92Q	probably benign	Het
Itpripl1	T	C	2: 127,142,007	E65G	probably damaging	Het
Kcnh5	G	C	12: 74,897,584	Q964E	probably benign	Het
Kmt2d	A	G	15: 98,859,590		probably benign	Het
Lrrc69	A	G	4: 14,665,986	V324A	possibly damaging	Het
Mefv	T	C	16: 3,717,827	Q79R	probably damaging	Het
Mettl17	T	C	14: 51,888,797	S168P	probably damaging	Het
Mpp4	A	T	1: 59,158,652	S23T	probably benign	Het
Nabp1	A	T	1: 51,477,845	V24D	probably damaging	Het
Nod2	T	A	8: 88,664,208	F359Y	probably damaging	Het
Olfr1355	A	G	10: 78,879,433	Q87R	probably benign	Het
Olfr1461	T	C	19: 13,165,196	Y61H	probably damaging	Het
Olfr1511	C	T	14: 52,390,580	M64I	probably benign	Het
Olfr2	C	T	7: 107,001,135	A242T	probably damaging	Het
Olfr406	A	T	11: 74,269,844	T152S	probably damaging	Het
Olfr64	T	G	7: 103,893,718	S6R	probably benign	Het
Olfr653	C	A	7: 104,579,909	L88M	probably damaging	Het
Olfr987	T	C	2: 85,331,100	D266G	probably benign	Het
Pcdh18	T	C	3: 49,755,951	H305R	probably benign	Het
Phf1	T	A	17: 26,935,745		probably null	Het
Pold3	T	C	7: 100,088,111	K379R	probably benign	Het
Pou2f3	T	A	9: 43,145,237	T108S	probably benign	Het
Prdm5	C	A	6: 65,936,076	T203K	probably damaging	Het
Psma5	A	G	3: 108,266,444	S79G	probably benign	Het
Psme4	T	A	11: 30,832,424	S889T	probably damaging	Het
Ptk2	A	T	15: 73,215,983	V902D	possibly damaging	Het
Rad54l	T	A	4: 116,110,357	I243F	probably damaging	Het
Ralgapa2	A	G	2: 146,460,759	F95L	probably benign	Het
Rassf6	G	A	5: 90,615,871	Q71*	probably null	Het
Ryr2	A	T	13: 11,681,080	L2967H	probably damaging	Het
Scn5a	T	C	9: 119,517,413	T1058A	possibly damaging	Het
Sdk1	T	C	5: 142,094,581	L1276P	probably damaging	Het
Serpina12	T	G	12: 104,035,789	T223P	probably damaging	Het
Sh3yl1	A	G	12: 30,942,788		probably null	Het
St6galnac5	T	A	3: 152,846,483	Q149L	probably benign	Het
Stam2	T	C	2: 52,708,227		probably null	Het
Tac2	A	G	10: 127,728,480		probably null	Het
Tbx3	T	C	5: 119,680,953	V531A	probably benign	Het
Thra	T	A	11: 98,763,741	D312E	probably benign	Het
Tlr1	T	A	5: 64,925,177	I686F	probably damaging	Het
Tmem86b	A	T	7: 4,628,707	F115L	probably benign	Het
Tmem94	A	G	11: 115,788,674	D259G	possibly damaging	Het
Trim69	G	A	2: 122,174,475		probably null	Het
Twistnb	T	A	12: 33,437,818	V244D	probably benign	Het
Usp43	T	A	11: 67,904,333	Q243L	probably damaging	Het
Vcam1	T	C	3: 116,125,957	Y226C	probably damaging	Het
Vmn2r104	A	T	17: 20,042,051	N272K	probably damaging	Het
Vmn2r26	G	A	6: 124,053,887	C527Y	probably damaging	Het
Vmn2r84	G	A	10: 130,390,808	A387V	probably benign	Het
Vps13b	A	T	15: 35,869,407	I2686F	probably damaging	Het
Vps8	C	T	16: 21,461,142	T281M	probably damaging	Het
Wdfy3	A	G	5: 101,919,409	V1219A	probably benign	Het
Wnt9b	A	G	11: 103,730,812	C340R	probably damaging	Het
Zfhx3	T	C	8: 108,794,142	V632A	probably benign	Het
Zfp341	A	T	2: 154,638,212	T528S	probably benign	Het
Zfp990	G	A	4: 145,534,882	A33T	probably damaging	Het
Zranb1	T	G	7: 132,982,729	S601R	probably damaging	Het
Zyx	A	T	6: 42,351,355	K166I	probably damaging	Het

Other mutations in Tbata

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01569:Tbata	APN	10	61175960	nonsense	probably null
IGL02311:Tbata	APN	10	61179455	nonsense	probably null
R0417:Tbata	UTSW	10	61180339	missense	probably damaging	1.00
R1537:Tbata	UTSW	10	61183491	splice site	probably null
R1959:Tbata	UTSW	10	61175844	missense	possibly damaging	0.86
R2138:Tbata	UTSW	10	61179284	missense	probably benign	0.40
R4835:Tbata	UTSW	10	61183353	missense	probably damaging	1.00
R6261:Tbata	UTSW	10	61175865	missense	possibly damaging	0.92
R6667:Tbata	UTSW	10	61185363	missense	probably damaging	1.00
R7355:Tbata	UTSW	10	61174320	unclassified	probably benign
R7863:Tbata	UTSW	10	61175742	missense	probably benign	0.02
R9607:Tbata	UTSW	10	61175847	missense	probably benign
X0066:Tbata	UTSW	10	61188605	missense	probably damaging	1.00
Z1191:Tbata	UTSW	10	61186393	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- TTCCAGCAGAAGGAAGAGCC -3'
(R):5'- ATTTGGCCAATGACCCATGAGAG -3'

Sequencing Primer
(F):5'- AGAGCCACCTCTGAGGGAAC -3'
(R):5'- ACAACAGGTTTGTCTAGAGGTAG -3'

Posted On

2014-08-01