Mutagenetix > Incidental Mutation

Incidental Mutation 'R7316:Tub'

567970

Institutional Source

Beutler Lab

Gene Symbol

Tub

Ensembl Gene

ENSMUSG00000031028

Gene Name

tubby bipartite transcription factor

Synonyms

tub, rd5

MMRRC Submission

045413-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7316 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108610087-108633666 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108629378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 478 (T478S)

Ref Sequence

ENSEMBL: ENSMUSP00000033341 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033341] [ENSMUST00000055993] [ENSMUST00000119474] [ENSMUST00000147580]

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: T478S

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033341
Gene: ENSMUSG00000031028
AA Change: T478S

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 benign
Transcript: ENSMUST00000055993

SMART Domains

Protein: ENSMUSP00000056990
Gene: ENSMUSG00000048330

Domain	Start	End	E-Value	Type
Pfam:RIC3	15	165	1.2e-38	PFAM
low complexity region	256	272	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119474
AA Change: T432S

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113580
Gene: ENSMUSG00000031028
AA Change: T432S

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: ENSMUST00000147580

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (93/94)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 89,969,020 (GRCm39)	M214I	probably benign	Het
Aadat	G	T	8: 60,979,668 (GRCm39)	G177C	probably damaging	Het
Adam4	T	C	12: 81,466,498 (GRCm39)	I708V	probably benign	Het
Aip	T	C	19: 4,164,793 (GRCm39)	N264S	probably benign	Het
Alox8	A	T	11: 69,077,064 (GRCm39)	D505E	probably benign	Het
Ap3d1	A	T	10: 80,553,693 (GRCm39)	I518N	probably damaging	Het
Arf3	G	A	15: 98,638,874 (GRCm39)	Q128*	probably null	Het
Asph	A	G	4: 9,537,746 (GRCm39)	V344A	probably benign	Het
Birc6	A	T	17: 74,911,489 (GRCm39)	R1500S	probably damaging	Het
Bptf	G	A	11: 106,963,935 (GRCm39)	T1753I	probably damaging	Het
Bptf	A	T	11: 107,001,740 (GRCm39)	C457*	probably null	Het
Brpf3	T	A	17: 29,033,660 (GRCm39)	I568N	probably damaging	Het
Btnl4	G	C	17: 34,688,031 (GRCm39)	N582K	probably benign	Het
Camsap3	C	A	8: 3,654,648 (GRCm39)	P773T	possibly damaging	Het
Capsl	A	T	15: 9,461,888 (GRCm39)	I95L	probably benign	Het
Cd96	T	A	16: 45,890,016 (GRCm39)	M336L	probably benign	Het
Cdan1	A	T	2: 120,558,813 (GRCm39)		probably null	Het
Chd3	A	T	11: 69,236,394 (GRCm39)	L1939Q	probably damaging	Het
Cngb3	A	T	4: 19,425,599 (GRCm39)	Y469F	probably benign	Het
Cp	T	C	3: 20,026,916 (GRCm39)	L448P	probably damaging	Het
Csnk1g2	T	C	10: 80,475,687 (GRCm39)	V418A	possibly damaging	Het
Dag1	A	T	9: 108,086,701 (GRCm39)	S147T	probably benign	Het
Dnajc25	T	A	4: 59,017,693 (GRCm39)	Y117*	probably null	Het
Dpysl2	A	T	14: 67,100,044 (GRCm39)	M64K	possibly damaging	Het
Dus3l	A	G	17: 57,072,551 (GRCm39)	H38R	possibly damaging	Het
Eme2	G	A	17: 25,113,840 (GRCm39)	R62W	probably damaging	Het
Enox1	A	T	14: 77,958,298 (GRCm39)	M616L	probably benign	Het
Epb41l4b	T	A	4: 57,019,867 (GRCm39)	T708S	probably benign	Het
Fat2	A	T	11: 55,176,893 (GRCm39)	I1534N	probably damaging	Het
Fer1l5	A	G	1: 36,457,197 (GRCm39)	T1649A	probably benign	Het
Fmo9	A	G	1: 166,491,215 (GRCm39)	V421A	probably benign	Het
Fsip2	A	C	2: 82,820,035 (GRCm39)	Y5256S	possibly damaging	Het
Gapvd1	G	A	2: 34,594,681 (GRCm39)	L804F	probably damaging	Het
Garin1a	A	G	6: 29,286,101 (GRCm39)	M187V	probably benign	Het
Gen1	A	G	12: 11,291,470 (GRCm39)	V838A	probably benign	Het
Gnptab	A	T	10: 88,236,572 (GRCm39)	N59I	probably damaging	Het
Grm5	A	G	7: 87,624,473 (GRCm39)	T347A	probably benign	Het
Gsdmc3	T	C	15: 63,730,251 (GRCm39)	N438D	possibly damaging	Het
Hmcn1	A	G	1: 150,608,697 (GRCm39)	L1495S	probably damaging	Het
Ift70a1	A	T	2: 75,811,201 (GRCm39)	L294Q	probably damaging	Het
Islr2	T	C	9: 58,105,250 (GRCm39)	E714G	probably damaging	Het
Larp4	A	T	15: 99,898,898 (GRCm39)	M430L	probably benign	Het
Lpcat2b	A	G	5: 107,580,979 (GRCm39)	I103V	not run	Het
Lrguk	C	T	6: 34,080,191 (GRCm39)	S1142F	unknown	Het
Lrit2	G	T	14: 36,790,815 (GRCm39)	V165F	probably damaging	Het
Mast3	T	A	8: 71,232,432 (GRCm39)	I1182F	probably damaging	Het
Mcm6	C	T	1: 128,287,245 (GRCm39)	D20N	probably damaging	Het
Mief1	A	G	15: 80,133,598 (GRCm39)	I218M	probably damaging	Het
Mmp2	A	G	8: 93,567,038 (GRCm39)	T453A	probably benign	Het
Ms4a18	T	A	19: 10,979,360 (GRCm39)	S219C	probably damaging	Het
Myo5c	A	T	9: 75,176,920 (GRCm39)	T622S	probably benign	Het
Neb	A	T	2: 52,161,450 (GRCm39)	M2114K	possibly damaging	Het
Nemp1	T	A	10: 127,525,212 (GRCm39)	L122*	probably null	Het
Nkx2-1	T	C	12: 56,581,583 (GRCm39)	N88S	probably benign	Het
Nr2c2	T	A	6: 92,131,444 (GRCm39)	C202S	probably damaging	Het
Ntsr1	A	C	2: 180,142,545 (GRCm39)	D112A	probably damaging	Het
Or14j3	A	G	17: 37,901,026 (GRCm39)	S73P	probably damaging	Het
Or56a41	A	T	7: 104,740,107 (GRCm39)	H246Q	probably damaging	Het
Or6n2	A	T	1: 173,897,727 (GRCm39)	I288F	probably benign	Het
Osbp2	C	A	11: 3,676,431 (GRCm39)	R73L	probably damaging	Het
Pbp2	T	A	6: 135,286,830 (GRCm39)	E172D	probably damaging	Het
Pcdhgc3	T	C	18: 37,941,501 (GRCm39)	I634T	probably benign	Het
Pcnx1	T	C	12: 82,042,323 (GRCm39)	S38P	probably benign	Het
Phyh	A	T	2: 4,940,855 (GRCm39)	K252*	probably null	Het
Plcb3	C	T	19: 6,943,753 (GRCm39)		probably null	Het
Ppargc1b	T	C	18: 61,440,909 (GRCm39)	S670G	probably damaging	Het
Prorp	A	G	12: 55,351,429 (GRCm39)	D246G	probably damaging	Het
Ptprc	T	C	1: 137,992,509 (GRCm39)	Y1067C	probably damaging	Het
Pwwp2b	A	C	7: 138,836,140 (GRCm39)	E527A	probably benign	Het
Pzp	T	C	6: 128,490,736 (GRCm39)	D409G	probably damaging	Het
Rbfox2	A	T	15: 77,016,929 (GRCm39)	N148K	possibly damaging	Het
Resf1	T	C	6: 149,228,136 (GRCm39)	L394P	probably damaging	Het
Rps24	T	C	14: 24,540,757 (GRCm39)		probably benign	Het
Slc35e4	T	C	11: 3,862,584 (GRCm39)	K202E	probably damaging	Het
Spata7	C	T	12: 98,624,871 (GRCm39)	R258W	probably damaging	Het
Spen	A	T	4: 141,204,365 (GRCm39)	S1421T	unknown	Het
Svep1	T	A	4: 58,068,763 (GRCm39)	I3008F	possibly damaging	Het
Tbc1d1	G	T	5: 64,492,620 (GRCm39)		probably null	Het
Thsd4	T	A	9: 59,894,642 (GRCm39)	H772L	probably benign	Het
Tle1	T	C	4: 72,036,529 (GRCm39)	I769V	probably benign	Het
Tm4sf19	T	A	16: 32,226,466 (GRCm39)	S127T	possibly damaging	Het
Tmprss9	C	A	10: 80,730,813 (GRCm39)	R780S	probably benign	Het
Tpp2	T	C	1: 44,009,591 (GRCm39)	V475A	probably benign	Het
Ttn	A	G	2: 76,692,509 (GRCm39)	V471A		Het
Ttn	A	T	2: 76,597,257 (GRCm39)	N19885K	probably damaging	Het
Ube2q2l	T	C	6: 136,378,276 (GRCm39)	K185E	possibly damaging	Het
Vmn2r88	A	T	14: 51,651,712 (GRCm39)	Y342F		Het
Wdr18	C	A	10: 79,801,059 (GRCm39)	D157E	probably benign	Het
Xrra1	A	T	7: 99,525,423 (GRCm39)		probably null	Het
Zc3h4	G	C	7: 16,169,260 (GRCm39)	G1198A	unknown	Het
Zfp568	A	T	7: 29,721,681 (GRCm39)	I209F	possibly damaging	Het
Zfp787	C	A	7: 6,158,523 (GRCm39)		probably benign	Het
Zfp974	A	T	7: 27,609,863 (GRCm39)	Y621N	possibly damaging	Het
Zyg11b	A	G	4: 108,107,699 (GRCm39)	I493T	possibly damaging	Het

Other mutations in Tub

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01694:Tub	APN	7	108,620,243 (GRCm39)	splice site	probably benign
IGL02715:Tub	APN	7	108,628,517 (GRCm39)	missense	probably benign
bath	UTSW	7	108,625,962 (GRCm39)	missense	possibly damaging	0.66
grasso	UTSW	7	108,628,857 (GRCm39)	missense	probably damaging	1.00
troy	UTSW	7	108,620,161 (GRCm39)	nonsense	probably null
R0152:Tub	UTSW	7	108,620,134 (GRCm39)	missense	probably damaging	1.00
R0233:Tub	UTSW	7	108,628,548 (GRCm39)	missense	possibly damaging	0.63
R0233:Tub	UTSW	7	108,628,548 (GRCm39)	missense	possibly damaging	0.63
R0317:Tub	UTSW	7	108,620,134 (GRCm39)	missense	probably damaging	1.00
R1382:Tub	UTSW	7	108,629,360 (GRCm39)	missense	probably damaging	1.00
R1395:Tub	UTSW	7	108,620,161 (GRCm39)	nonsense	probably null
R1588:Tub	UTSW	7	108,628,888 (GRCm39)	missense	probably damaging	1.00
R1975:Tub	UTSW	7	108,627,042 (GRCm39)	missense	possibly damaging	0.74
R2047:Tub	UTSW	7	108,625,939 (GRCm39)	missense	probably benign	0.30
R2121:Tub	UTSW	7	108,625,944 (GRCm39)	missense	probably damaging	1.00
R2414:Tub	UTSW	7	108,626,240 (GRCm39)	missense	probably damaging	1.00
R3694:Tub	UTSW	7	108,627,039 (GRCm39)	missense	probably benign
R3695:Tub	UTSW	7	108,627,039 (GRCm39)	missense	probably benign
R4914:Tub	UTSW	7	108,620,161 (GRCm39)	nonsense	probably null
R5139:Tub	UTSW	7	108,610,309 (GRCm39)	start codon destroyed	probably null	0.53
R5347:Tub	UTSW	7	108,625,978 (GRCm39)	missense	possibly damaging	0.67
R5557:Tub	UTSW	7	108,624,925 (GRCm39)	missense	probably damaging	0.99
R6000:Tub	UTSW	7	108,628,857 (GRCm39)	missense	probably damaging	1.00
R6245:Tub	UTSW	7	108,626,265 (GRCm39)	missense	probably damaging	1.00
R6888:Tub	UTSW	7	108,628,505 (GRCm39)	missense	probably null	1.00
R8120:Tub	UTSW	7	108,624,803 (GRCm39)	splice site	probably null
R8223:Tub	UTSW	7	108,628,533 (GRCm39)	missense	probably benign	0.33
R8885:Tub	UTSW	7	108,628,793 (GRCm39)	missense
R8978:Tub	UTSW	7	108,629,393 (GRCm39)	missense	probably damaging	1.00
R9158:Tub	UTSW	7	108,625,962 (GRCm39)	missense	possibly damaging	0.66
R9382:Tub	UTSW	7	108,626,211 (GRCm39)	missense	possibly damaging	0.82
R9414:Tub	UTSW	7	108,626,265 (GRCm39)	missense	probably damaging	1.00
R9746:Tub	UTSW	7	108,624,845 (GRCm39)	missense	probably benign	0.00
RF005:Tub	UTSW	7	108,621,846 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATCTAGAGTCCTGCCCCTAGTG -3'
(R):5'- AGTCTCTGGTTGGTAAGGCC -3'

Sequencing Primer
(F):5'- CTAGTGCCCTGCATGTCTGG -3'
(R):5'- GCCAGAAAGCCCATAGAGG -3'

Posted On

2019-06-26