Mutagenetix > Incidental Mutation

Incidental Mutation 'R0417:Tbata'

40416

Institutional Source

Beutler Lab

Gene Symbol

Tbata

Ensembl Gene

ENSMUSG00000020096

Gene Name

thymus, brain and testes associated

Synonyms

1700021K02Rik, Spatial

MMRRC Submission

038619-MU

Accession Numbers

Essential gene?

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

Stock #

R0417 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

61007743-61024620 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61016118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 198 (D198V)

Ref Sequence

ENSEMBL: ENSMUSP00000078227 (fasta)

Gene Model

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

AlphaFold

Q7TSD4

Predicted Effect

probably damaging
Transcript: ENSMUST00000035894
AA Change: D193V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000036422
Gene: ENSMUSG00000020096
AA Change: D193V

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 damaging
Transcript: ENSMUST00000079235
AA Change: D198V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078227
Gene: ENSMUSG00000020096
AA Change: D198V

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 damaging
Transcript: ENSMUST00000121297
AA Change: D159V

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

SMART Domains

Protein: ENSMUSP00000113253
Gene: ENSMUSG00000020096
AA Change: D159V

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: D159V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113902
Gene: ENSMUSG00000020096
AA Change: D159V

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 damaging
Transcript: ENSMUST00000126831
AA Change: D74V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119957
Gene: ENSMUSG00000020096
AA Change: D74V

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

silent
Transcript: ENSMUST00000140456

Predicted Effect

probably damaging
Transcript: ENSMUST00000148181
AA Change: D69V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000151886
AA Change: D33V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

silent
Transcript: ENSMUST00000143207

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,199,244 (GRCm39)	K217R	probably damaging	Het
1810024B03Rik	A	G	2: 127,028,864 (GRCm39)	Y112H	probably damaging	Het
Acot2	T	C	12: 84,037,387 (GRCm39)	Y234H	probably benign	Het
Alox12e	C	T	11: 70,212,691 (GRCm39)	V53I	probably benign	Het
Ankrd50	T	C	3: 38,510,510 (GRCm39)	H619R	probably damaging	Het
Arfgef3	A	T	10: 18,479,259 (GRCm39)	L1452Q	probably damaging	Het
Arhgap42	T	C	9: 9,180,034 (GRCm39)	S82G	possibly damaging	Het
Arhgef18	T	C	8: 3,438,957 (GRCm39)		probably benign	Het
Bicra	C	A	7: 15,706,247 (GRCm39)	R1398L	probably damaging	Het
Boc	T	C	16: 44,340,597 (GRCm39)	T118A	probably benign	Het
Btnl9	A	G	11: 49,066,422 (GRCm39)	Y381H	probably damaging	Het
Cbln3	T	G	14: 56,121,586 (GRCm39)	E20A	probably benign	Het
Cdc42ep5	A	G	7: 4,154,482 (GRCm39)	L102P	probably damaging	Het
Csrnp3	A	G	2: 65,849,887 (GRCm39)	Y171C	probably benign	Het
Cyp2d9	A	T	15: 82,340,152 (GRCm39)	I181F	probably damaging	Het
Cyp7b1	T	A	3: 18,150,855 (GRCm39)	T295S	probably damaging	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Dok1	A	T	6: 83,008,550 (GRCm39)	D377E	probably damaging	Het
Eed	A	T	7: 89,620,760 (GRCm39)	Y87*	probably null	Het
Entpd3	T	C	9: 120,386,487 (GRCm39)	V156A	probably damaging	Het
Exo5	T	A	4: 120,779,269 (GRCm39)	T199S	probably damaging	Het
Extl2	T	C	3: 115,818,006 (GRCm39)	I106T	probably benign	Het
Ezh2	A	G	6: 47,528,660 (GRCm39)	C291R	probably benign	Het
Flvcr1	A	T	1: 190,743,416 (GRCm39)	M466K	probably benign	Het
Fras1	G	T	5: 96,839,231 (GRCm39)	M1583I	probably benign	Het
Fzd9	G	T	5: 135,278,473 (GRCm39)	R471S	probably damaging	Het
Galr1	A	T	18: 82,423,665 (GRCm39)	F204Y	probably damaging	Het
Gna11	A	T	10: 81,366,738 (GRCm39)	I324N	probably damaging	Het
Gucy1a2	A	G	9: 3,759,484 (GRCm39)	E430G	possibly damaging	Het
Hhatl	C	T	9: 121,617,828 (GRCm39)	A254T	probably benign	Het
Ikzf1	A	C	11: 11,719,352 (GRCm39)	N353T	probably benign	Het
Il7	T	A	3: 7,641,087 (GRCm39)	T110S	probably damaging	Het
Keg1	A	G	19: 12,688,424 (GRCm39)	N53D	probably damaging	Het
Klhl21	T	C	4: 152,099,964 (GRCm39)	I558T	probably damaging	Het
Lca5l	G	A	16: 95,963,853 (GRCm39)	T357M	probably damaging	Het
Lrba	T	C	3: 86,622,961 (GRCm39)	S2448P	probably damaging	Het
Map3k6	T	A	4: 132,975,393 (GRCm39)	Y709*	probably null	Het
Megf6	A	G	4: 154,352,424 (GRCm39)	E1261G	probably benign	Het
Mettl3	C	T	14: 52,534,155 (GRCm39)	G473D	probably damaging	Het
Mga	A	G	2: 119,733,271 (GRCm39)	I40V	probably damaging	Het
Mmp13	T	A	9: 7,276,602 (GRCm39)	D232E	probably benign	Het
Nampt	T	C	12: 32,883,100 (GRCm39)	V95A	probably benign	Het
Nbeal1	T	C	1: 60,286,893 (GRCm39)	V905A	probably benign	Het
Nomo1	A	T	7: 45,718,122 (GRCm39)	E840V	possibly damaging	Het
Nprl2	A	T	9: 107,420,497 (GRCm39)	I101F	probably damaging	Het
Nup160	A	T	2: 90,565,771 (GRCm39)	I1378F	possibly damaging	Het
Ogdhl	T	C	14: 32,048,936 (GRCm39)	S69P	probably damaging	Het
Or2y17	T	A	11: 49,231,500 (GRCm39)	I47N	possibly damaging	Het
Or4a68	C	A	2: 89,270,519 (GRCm39)	V35L	possibly damaging	Het
Or4k77	A	G	2: 111,199,450 (GRCm39)	S158G	possibly damaging	Het
Or5be3	A	T	2: 86,863,789 (GRCm39)	Y259N	probably damaging	Het
Or8b12i	G	A	9: 20,082,510 (GRCm39)	A119V	probably damaging	Het
Or8c16	A	G	9: 38,130,751 (GRCm39)	I211V	probably benign	Het
Or8c8	T	C	9: 38,165,160 (GRCm39)	F149S	probably benign	Het
Osbpl3	C	T	6: 50,324,998 (GRCm39)	V167I	probably benign	Het
Pclo	T	A	5: 14,763,036 (GRCm39)	H3836Q	unknown	Het
Prkcg	A	T	7: 3,352,820 (GRCm39)		probably null	Het
Ror1	A	T	4: 100,269,197 (GRCm39)	H345L	possibly damaging	Het
Slc36a2	C	T	11: 55,072,370 (GRCm39)		probably null	Het
Slc40a1	G	A	1: 45,950,534 (GRCm39)	P306L	possibly damaging	Het
Slc9a8	C	A	2: 167,299,264 (GRCm39)	T239K	probably benign	Het
Snapc3	A	G	4: 83,368,399 (GRCm39)	I299V	probably benign	Het
Sp3	G	A	2: 72,801,845 (GRCm39)	A56V	possibly damaging	Het
Spag17	T	A	3: 99,972,870 (GRCm39)	S1361T	probably benign	Het
Sptbn2	A	G	19: 4,787,954 (GRCm39)	T978A	probably benign	Het
Stom	C	A	2: 35,211,644 (GRCm39)	V126F	probably damaging	Het
Stpg2	A	G	3: 138,924,082 (GRCm39)	T162A	probably damaging	Het
Stxbp6	G	A	12: 44,949,740 (GRCm39)	T63M	probably damaging	Het
Tatdn1	A	C	15: 58,793,199 (GRCm39)	I69S	probably benign	Het
Tbc1d5	T	C	17: 51,063,733 (GRCm39)	I638V	probably benign	Het
Tomm70a	A	G	16: 56,970,266 (GRCm39)	D548G	probably benign	Het
Ust	A	G	10: 8,121,700 (GRCm39)	F303L	probably damaging	Het
Vps13d	A	G	4: 144,703,130 (GRCm39)	S4306P	probably benign	Het
Zbed6	A	T	1: 133,586,276 (GRCm39)	S354T	probably benign	Het
Zfp691	A	G	4: 119,027,693 (GRCm39)	S180P	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CTTAACAACAGGCGTGGCATCTTTC -3'
(R):5'- GGGAACCCTTCTTGGATTTCTCTGC -3'

Sequencing Primer
(F):5'- TTTAGACACAGTAGCCTAAGCGTC -3'
(R):5'- CTTCTTGGATTTCTCTGCTAGGTG -3'

Posted On

2013-05-23