Mutagenetix > Incidental Mutation

Incidental Mutation 'R9382:Tub'

710105

Institutional Source

Beutler Lab

Gene Symbol

Tub

Ensembl Gene

ENSMUSG00000031028

Gene Name

tubby bipartite transcription factor

Synonyms

rd5, tub

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9382 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108950338-109034460 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109027004 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 295 (V295A)

Ref Sequence

ENSEMBL: ENSMUSP00000033341 (fasta)

Gene Model

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

AlphaFold

P50586

PDB Structure

C-TERMINAL DOMAIN OF MOUSE BRAIN TUBBY PROTEIN [X-RAY DIFFRACTION]
C-Terminal Domain Of Mouse Brain Tubby Protein bound to Phosphatidylinositol 4,5-bis-phosphate [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033341
AA Change: V295A

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000033341
Gene: ENSMUSG00000031028
AA Change: V295A

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

possibly damaging
Transcript: ENSMUST00000119474
AA Change: V249A

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113580
Gene: ENSMUSG00000031028
AA Change: V249A

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

probably benign
Transcript: ENSMUST00000207583

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	T	6: 48,930,364	K99N	probably benign	Het
Abca8b	G	A	11: 109,979,885	S147L	probably benign	Het
Abraxas1	A	G	5: 100,809,783	V190A	probably benign	Het
Aox1	T	A	1: 58,065,342	H559Q	possibly damaging	Het
Arhgap31	C	T	16: 38,602,626	G1026D	probably benign	Het
C1ra	T	C	6: 124,513,860	F71L	probably benign	Het
C530025M09Rik	T	C	2: 149,830,720	H165R	unknown	Het
Celf2	A	T	2: 6,721,593	M43K	probably damaging	Het
Celsr3	T	C	9: 108,829,762	V1148A	possibly damaging	Het
Cmya5	T	G	13: 93,093,376	K1735Q	probably benign	Het
Cntln	A	C	4: 85,050,081	M846L	probably benign	Het
Cntn5	T	C	9: 9,673,812	T762A	probably benign	Het
Col11a1	T	A	3: 114,105,397	L525Q	unknown	Het
Col12a1	T	C	9: 79,682,082	T1064A	probably benign	Het
Cyc1	T	C	15: 76,345,073	V211A	possibly damaging	Het
Ddx56	A	G	11: 6,265,516	S296P	probably damaging	Het
Deptor	A	T	15: 55,112,402		probably benign	Het
Ezh1	C	T	11: 101,203,439	R409H	possibly damaging	Het
Fam228b	T	A	12: 4,748,147	E190V	probably damaging	Het
Fkbp15	A	T	4: 62,318,973	L635H	probably damaging	Het
Frem1	G	A	4: 82,983,385	L969F	possibly damaging	Het
Gabrg2	T	C	11: 41,967,606	R232G	probably benign	Het
Gpr26	G	A	7: 131,967,234	D103N	probably damaging	Het
Grid2ip	T	G	5: 143,375,348		probably null	Het
Ints7	T	C	1: 191,619,681	V834A	probably damaging	Het
Kcnh7	T	A	2: 62,837,268	H309L	probably benign	Het
Mael	T	C	1: 166,225,713	E241G	probably damaging	Het
Neb	T	A	2: 52,232,265	E584V		Het
Nexn	C	T	3: 152,253,764	V23M	probably damaging	Het
Npas1	T	C	7: 16,456,306		probably null	Het
Olfr566	T	C	7: 102,856,807	I158M	probably benign	Het
Pcdh17	T	G	14: 84,448,082	V663G	probably damaging	Het
Pga5	C	T	19: 10,669,533	G303S	probably damaging	Het
Poln	T	A	5: 34,007,498	K844N	probably damaging	Het
Prkar1b	C	T	5: 139,050,687	D227N	probably damaging	Het
Proc	T	A	18: 32,123,283	I444F	probably damaging	Het
Ptprn	G	T	1: 75,252,491	H791N	probably benign	Het
Ror1	T	C	4: 100,334,512	S160P	probably benign	Het
Satb2	T	A	1: 56,831,638		probably null	Het
Slc43a3	C	T	2: 84,950,427	A332V	probably benign	Het
Sp100	G	A	1: 85,699,615	V410M	probably damaging	Het
Srgap2	T	C	1: 131,289,608	T989A	probably benign	Het
Ssc5d	T	C	7: 4,927,284		probably null	Het
Tll2	A	G	19: 41,128,558	Y273H	probably benign	Het
Unc13b	T	A	4: 43,172,512	D1113E	unknown	Het
Usp9y	C	A	Y: 1,364,776	M1012I	probably benign	Het
Vmn1r238	A	G	18: 3,122,676	V246A	probably damaging	Het
Vmn2r88	T	G	14: 51,418,740	V802G		Het
Wnt7b	T	C	15: 85,558,974	Q76R	probably damaging	Het
Zan	T	C	5: 137,391,655	R4852G	unknown	Het
Zfp618	A	T	4: 63,133,021	T680S	probably damaging	Het
Zfp784	T	A	7: 5,038,339	D25V	unknown	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
bath	UTSW	7	109026755	missense	possibly damaging	0.66
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
R2121:Tub	UTSW	7	109026737	missense	probably damaging	1.00
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
R8885:Tub	UTSW	7	109029586	missense
R8978:Tub	UTSW	7	109030186	missense	probably damaging	1.00
R9158:Tub	UTSW	7	109026755	missense	possibly damaging	0.66
R9414:Tub	UTSW	7	109027058	missense	probably damaging	1.00
R9746:Tub	UTSW	7	109025638	missense	probably benign	0.00
RF005:Tub	UTSW	7	109022639	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCAGTTTGAAGGCCGGAAG -3'
(R):5'- CTGGTCCTGTCTGACTCAAG -3'

Sequencing Primer
(F):5'- GGCTAGAATAGGAGGGGAGCTC -3'
(R):5'- TCAAGGCTGGGAAGACTCCTTC -3'

Posted On

2022-04-18