Mutagenetix > Incidental Mutation

Incidental Mutation 'R6000:Tub'

480784

Institutional Source

Beutler Lab

Gene Symbol

Tub

Ensembl Gene

ENSMUSG00000031028

Gene Name

tubby bipartite transcription factor

Synonyms

tub, rd5

MMRRC Submission

044179-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6000 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108610087-108633666 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108628857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 391 (S391P)

Ref Sequence

ENSEMBL: ENSMUSP00000113580 (fasta)

Gene Model

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

AlphaFold

P50586

Predicted Effect

probably damaging
Transcript: ENSMUST00000033341
AA Change: S437P

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

SMART Domains

Protein: ENSMUSP00000033341
Gene: ENSMUSG00000031028
AA Change: S437P

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

probably damaging
Transcript: ENSMUST00000119474
AA Change: S391P

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

SMART Domains

Protein: ENSMUSP00000113580
Gene: ENSMUSG00000031028
AA Change: S391P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147943

Meta Mutation Damage Score

0.9189

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

100% (64/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	T	C	16: 88,556,427 (GRCm39)	C214R	possibly damaging	Het
Ahnak	A	T	19: 8,990,475 (GRCm39)	K3920*	probably null	Het
Alox12b	A	G	11: 69,060,394 (GRCm39)	D650G	probably damaging	Het
Amt	A	T	9: 108,178,684 (GRCm39)	Y400F	probably benign	Het
Ankrd11	A	G	8: 123,617,934 (GRCm39)	S1973P	possibly damaging	Het
Aoc1	A	T	6: 48,884,573 (GRCm39)	T539S	probably benign	Het
Arhgap44	CTGCT	CTGCTTGCT	11: 64,922,910 (GRCm39)		probably null	Het
Ccdc15	C	T	9: 37,227,060 (GRCm39)	G292S	probably benign	Het
Ccdc162	C	T	10: 41,437,159 (GRCm39)	C287Y	possibly damaging	Het
Ccn6	T	C	10: 39,034,296 (GRCm39)	Y102C	probably damaging	Het
Cdk15	G	A	1: 59,328,818 (GRCm39)	G244D	probably damaging	Het
Cep290	T	A	10: 100,377,649 (GRCm39)	Y1560N	probably damaging	Het
Cfap251	A	G	5: 123,392,435 (GRCm39)		probably benign	Het
Cic	A	C	7: 24,971,423 (GRCm39)	I385L	probably benign	Het
Cobl	A	T	11: 12,319,684 (GRCm39)	F231L	probably benign	Het
Cpeb1	T	C	7: 81,011,428 (GRCm39)	D171G	possibly damaging	Het
Csnk1g2	T	A	10: 80,474,778 (GRCm39)	V305E	probably damaging	Het
Cyp2c29	A	G	19: 39,296,050 (GRCm39)		probably null	Het
Dner	A	T	1: 84,361,650 (GRCm39)	M653K	possibly damaging	Het
Dst	T	A	1: 34,251,304 (GRCm39)	M4311K	possibly damaging	Het
Ep400	A	G	5: 110,831,067 (GRCm39)	S2200P	unknown	Het
Ephb2	A	T	4: 136,411,341 (GRCm39)	S440T	possibly damaging	Het
Ercc1	A	T	7: 19,081,086 (GRCm39)		probably benign	Het
Folh1	T	A	7: 86,375,142 (GRCm39)	N615Y	probably benign	Het
Gm7298	T	C	6: 121,742,038 (GRCm39)	Y487H	possibly damaging	Het
Gucy1b2	A	T	14: 62,656,499 (GRCm39)	I286N	probably benign	Het
Hr	A	G	14: 70,805,273 (GRCm39)	D1005G	probably damaging	Het
Ifrd1	C	A	12: 40,266,243 (GRCm39)	V117F	possibly damaging	Het
Ift140	A	T	17: 25,255,934 (GRCm39)	T210S	probably benign	Het
Igll1	C	A	16: 16,681,805 (GRCm39)		probably benign	Het
Ino80	G	T	2: 119,204,989 (GRCm39)	S1512R	probably benign	Het
Intu	A	T	3: 40,608,578 (GRCm39)	K197*	probably null	Het
Kdm6b	A	G	11: 69,294,424 (GRCm39)	L1216P	unknown	Het
Klrb1c	T	G	6: 128,761,120 (GRCm39)	D169A	probably damaging	Het
Lamp3	T	A	16: 19,519,698 (GRCm39)	T162S	possibly damaging	Het
Mapk10	G	A	5: 103,114,342 (GRCm39)	P319S	probably damaging	Het
Mapk10	G	A	5: 103,114,341 (GRCm39)	P319L	probably damaging	Het
Mical3	T	C	6: 120,998,281 (GRCm39)	T702A	probably benign	Het
Mstn	C	T	1: 53,100,828 (GRCm39)		probably benign	Het
Nckap1l	T	C	15: 103,387,242 (GRCm39)	S706P	probably benign	Het
Nckap5l	G	A	15: 99,324,766 (GRCm39)	T579I	probably damaging	Het
Or13p3	A	T	4: 118,567,441 (GRCm39)	N279I	probably damaging	Het
Or4a27	C	A	2: 88,559,575 (GRCm39)	A123S	probably damaging	Het
Or8s16	G	A	15: 98,211,317 (GRCm39)	T38I	probably benign	Het
Pcdh18	A	C	3: 49,708,913 (GRCm39)	S801A	probably damaging	Het
Pde11a	A	T	2: 75,848,204 (GRCm39)	D874E	probably damaging	Het
Pfdn6	G	T	17: 34,158,589 (GRCm39)	P62T	probably damaging	Het
Pkd1l1	A	G	11: 8,900,427 (GRCm39)	I38T	probably benign	Het
Prkdc	A	T	16: 15,647,561 (GRCm39)	I3662F	possibly damaging	Het
Psg26	A	T	7: 18,216,617 (GRCm39)	L74*	probably null	Het
Rassf6	A	G	5: 90,751,736 (GRCm39)	V341A	probably damaging	Het
Rsad2	C	A	12: 26,497,150 (GRCm39)		probably null	Het
Rwdd3	A	G	3: 120,950,162 (GRCm39)	Y95H	probably damaging	Het
Scfd1	A	G	12: 51,492,457 (GRCm39)	I589V	possibly damaging	Het
Sgsm1	A	T	5: 113,434,704 (GRCm39)	I131N	probably damaging	Het
Tecpr1	A	G	5: 144,148,239 (GRCm39)	S389P	probably benign	Het
Tle3	T	A	9: 61,281,296 (GRCm39)	I29N	probably damaging	Het
Tmem63c	C	A	12: 87,103,971 (GRCm39)	N73K	probably damaging	Het
Tpm2	T	A	4: 43,518,301 (GRCm39)		probably null	Het
Trak2	A	T	1: 58,950,971 (GRCm39)	D405E	possibly damaging	Het
Ttn	C	A	2: 76,575,516 (GRCm39)	A23380S	probably damaging	Het
Ttn	A	T	2: 76,715,495 (GRCm39)		probably benign	Het
Ush2a	G	T	1: 187,999,223 (GRCm39)	E178*	probably null	Het
Vamp9	G	T	5: 100,089,226 (GRCm39)	A164S	probably benign	Het
Ylpm1	C	A	12: 85,044,030 (GRCm39)	T256K	unknown	Het
Zfp1007	A	G	5: 109,824,730 (GRCm39)	V240A	probably benign	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
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
R7316:Tub	UTSW	7	108,629,378 (GRCm39)	missense	possibly damaging	0.69
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'- GGTGTAATTTGAGAAACCCTGGAAG -3'
(R):5'- CCCATCACTGGCTGATATGG -3'

Sequencing Primer
(F):5'- CTAAGAAGCCTCATTCCTGGGAG -3'
(R):5'- TCACTGGCTGATATGGACCAGATC -3'

Posted On

2017-06-26