Mutagenetix > Incidental Mutations

Incidental Mutation 'R2121:Tub'

231449

Institutional Source

Beutler Lab

Gene Symbol

Tub

Ensembl Gene

ENSMUSG00000031028

Gene Name

tubby bipartite transcription factor

Synonyms

rd5, tub

MMRRC Submission

040125-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2121 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108950338-109034460 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 109026737 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 232 (G232S)

Ref Sequence

ENSEMBL: ENSMUSP00000113580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033341] [ENSMUST00000119474] [ENSMUST00000207583]

Predicted Effect

probably damaging
Transcript: ENSMUST00000033341
AA Change: G278S

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

SMART Domains

Protein: ENSMUSP00000033341
Gene: ENSMUSG00000031028
AA Change: G278S

Domain	Start	End	E-Value	Type
Pfam:Tub_N	29	237	2.5e-58	PFAM
Pfam:Tub	257	499	2.4e-88	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119474
AA Change: G232S

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

SMART Domains

Protein: ENSMUSP00000113580
Gene: ENSMUSG00000031028
AA Change: G232S

Domain	Start	End	E-Value	Type
low complexity region	24	41	N/A	INTRINSIC
low complexity region	55	77	N/A	INTRINSIC
low complexity region	145	174	N/A	INTRINSIC
low complexity region	183	196	N/A	INTRINSIC
Pfam:Tub	211	453	2.4e-121	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147943

Predicted Effect

probably benign
Transcript: ENSMUST00000207583

Meta Mutation Damage Score

0.3666

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit a late-developing obesity with hyperinsulinemia, retinal degeneration, and hearing loss associated with death of both outer and inner hair cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	A	17: 84,671,147	E294D	probably benign	Het
Adnp2	A	G	18: 80,129,170	F675L	probably benign	Het
Akna	G	A	4: 63,376,900	T1024I	probably benign	Het
Ambn	T	A	5: 88,460,758		probably benign	Het
Aox3	T	C	1: 58,152,549		probably benign	Het
Arhgef10	A	G	8: 14,934,820	D200G	probably damaging	Het
Arhgef26	A	T	3: 62,340,283	N263Y	probably damaging	Het
Arpp21	A	G	9: 112,136,670	S375P	probably damaging	Het
Bscl2	G	T	19: 8,839,782	E25*	probably null	Het
Ccl12	T	A	11: 82,101,950	S17R	probably damaging	Het
Cdh1	A	G	8: 106,664,210	I653V	probably benign	Het
Ceacam9	T	A	7: 16,722,003	F12I	probably benign	Het
Cldn23	A	G	8: 35,826,235	V33A	probably benign	Het
Cog1	T	C	11: 113,649,598	L13P	probably damaging	Het
Col20a1	G	C	2: 180,996,456	A346P	probably damaging	Het
Col6a3	T	C	1: 90,810,365	D537G	probably damaging	Het
Ctnnd2	G	A	15: 30,669,514	R423H	probably damaging	Het
Cyp2a12	A	G	7: 27,036,646	*493W	probably null	Het
Dcdc2a	T	G	13: 25,119,285	S266R	possibly damaging	Het
Diaph1	A	T	18: 37,896,389	M330K	unknown	Het
Dnah5	C	T	15: 28,297,005		probably benign	Het
F13a1	T	A	13: 37,025,679	Y104F	probably benign	Het
Fam78b	G	A	1: 167,078,709	V146M	probably damaging	Het
Fancl	G	T	11: 26,459,841		probably benign	Het
Gm10477	A	G	X: 56,524,832	K31E	probably damaging	Het
Gm7173	T	C	X: 79,510,321	I267V	probably benign	Het
Gstm7	T	C	3: 107,926,914	M175V	probably benign	Het
Hcn4	T	C	9: 58,824,058	S183P	unknown	Het
Heatr1	T	C	13: 12,403,264	V359A	probably benign	Het
Ikbkb	T	C	8: 22,667,217		probably benign	Het
Ints6l	T	A	X: 56,504,868	S718T	probably benign	Het
Kctd5	T	C	17: 24,055,966	T212A	probably benign	Het
Kdm3b	T	C	18: 34,796,780		probably benign	Het
Ltbp1	T	A	17: 75,310,159	V1031E	possibly damaging	Het
Lyst	A	G	13: 13,660,971	Y1746C	probably damaging	Het
Mageb5	A	G	X: 91,780,095	I226T	probably damaging	Het
Mdc1	C	T	17: 35,847,943	A405V	probably benign	Het
Mlc1	A	G	15: 88,963,431	Y305H	probably benign	Het
Muc4	A	G	16: 32,760,238	Y2474C	unknown	Het
Mybphl	A	C	3: 108,375,176	N175T	probably damaging	Het
Ncbp3	T	C	11: 73,053,478	V102A	possibly damaging	Het
Neb	A	G	2: 52,264,064	F2345S	probably damaging	Het
Nlrp6	T	C	7: 140,926,444	V766A	probably benign	Het
Olfr1045	T	A	2: 86,197,996	Y252F	possibly damaging	Het
Olfr866	T	G	9: 20,027,501	I146L	probably benign	Het
Palb2	T	C	7: 122,127,781	T289A	possibly damaging	Het
Pde10a	A	T	17: 8,977,215	Q657L	probably damaging	Het
Ppp2r2a	A	T	14: 67,023,128	F234I	probably damaging	Het
Prl3c1	T	A	13: 27,199,342		probably null	Het
Psg20	T	A	7: 18,681,022	Y316F	probably benign	Het
Sap18	T	A	14: 57,798,554	S66T	probably damaging	Het
Serpina3m	A	G	12: 104,389,682	M203V	possibly damaging	Het
Slc6a21	A	T	7: 45,288,462	I726F	probably benign	Het
Soga1	T	C	2: 157,033,325	E835G	probably damaging	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Tfdp2	T	C	9: 96,295,014	S75P	probably damaging	Het
Thegl	A	T	5: 77,060,758	I378L	probably benign	Het
Tll1	T	C	8: 64,085,557	E351G	probably benign	Het
Tmed11	G	A	5: 108,795,332		probably benign	Het
Tmem81	C	A	1: 132,508,109	Q218K	probably benign	Het
Tnfsf11	G	A	14: 78,299,893	T110I	probably benign	Het
Ttc25	T	A	11: 100,567,011		probably null	Het
Vmn2r121	A	T	X: 124,133,742		probably null	Het
Vwa5b1	T	C	4: 138,588,569	T621A	probably benign	Het
Ythdf3	T	C	3: 16,205,192	F501S	possibly damaging	Het

Other mutations in Tub

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01694:Tub	APN	7	109021036	splice site	probably benign
IGL02715:Tub	APN	7	109029310	missense	probably benign
grasso	UTSW	7	109029650	missense	probably damaging	1.00
troy	UTSW	7	109020954	nonsense	probably null
R0152:Tub	UTSW	7	109020927	missense	probably damaging	1.00
R0233:Tub	UTSW	7	109029341	missense	possibly damaging	0.63
R0233:Tub	UTSW	7	109029341	missense	possibly damaging	0.63
R0317:Tub	UTSW	7	109020927	missense	probably damaging	1.00
R1382:Tub	UTSW	7	109030153	missense	probably damaging	1.00
R1395:Tub	UTSW	7	109020954	nonsense	probably null
R1588:Tub	UTSW	7	109029681	missense	probably damaging	1.00
R1975:Tub	UTSW	7	109027835	missense	possibly damaging	0.74
R2047:Tub	UTSW	7	109026732	missense	probably benign	0.30
R2414:Tub	UTSW	7	109027033	missense	probably damaging	1.00
R3694:Tub	UTSW	7	109027832	missense	probably benign
R3695:Tub	UTSW	7	109027832	missense	probably benign
R4914:Tub	UTSW	7	109020954	nonsense	probably null
R5139:Tub	UTSW	7	109011102	start codon destroyed	probably null	0.53
R5347:Tub	UTSW	7	109026771	missense	possibly damaging	0.67
R5557:Tub	UTSW	7	109025718	missense	probably damaging	0.99
R6000:Tub	UTSW	7	109029650	missense	probably damaging	1.00
R6245:Tub	UTSW	7	109027058	missense	probably damaging	1.00
R6888:Tub	UTSW	7	109029298	missense	probably null	1.00
R7316:Tub	UTSW	7	109030171	missense	possibly damaging	0.69
R8120:Tub	UTSW	7	109025596	splice site	probably null
R8223:Tub	UTSW	7	109029326	missense	probably benign	0.33
RF005:Tub	UTSW	7	109022639	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACGCGCATAGTGTCCTTTTG -3'
(R):5'- GTAACATTACCCATCCGGCCTC -3'

Sequencing Primer
(F):5'- ACGCGCATAGTGTCCTTTTGATTTG -3'
(R):5'- GCACTGGCAAGCCCCTAAG -3'

Posted On

2014-09-18