Mutagenetix > Incidental Mutation

Incidental Mutation 'R8223:Tub'

636826

Institutional Source

Beutler Lab

Gene Symbol

Tub

Ensembl Gene

ENSMUSG00000031028

Gene Name

tubby bipartite transcription factor

Synonyms

tub, rd5

MMRRC Submission

067641-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108610087-108633666 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108628533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 393 (M393K)

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

probably benign
Transcript: ENSMUST00000033341
AA Change: M393K

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000033341
Gene: ENSMUSG00000031028
AA Change: M393K

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 benign
Transcript: ENSMUST00000119474
AA Change: M347K

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113580
Gene: ENSMUSG00000031028
AA Change: M347K

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.2%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,668,692 (GRCm39)	W18R	probably damaging	Het
Alms1	T	A	6: 85,620,222 (GRCm39)	Y2417*	probably null	Het
Apold1	T	A	6: 134,961,148 (GRCm39)	S201T	probably benign	Het
Arhgap31	G	A	16: 38,424,084 (GRCm39)	P661S	probably benign	Het
Cacfd1	T	C	2: 26,908,396 (GRCm39)	V110A	possibly damaging	Het
Capn2	A	G	1: 182,310,099 (GRCm39)		probably null	Het
Chadl	T	C	15: 81,579,335 (GRCm39)	E98G	possibly damaging	Het
Crxos	T	C	7: 15,631,394 (GRCm39)	Y31H	probably benign	Het
Cyp4f14	A	C	17: 33,130,627 (GRCm39)		probably null	Het
Cyp4f39	T	C	17: 32,689,839 (GRCm39)	I95T	probably benign	Het
Dars1	T	C	1: 128,299,961 (GRCm39)	E341G	probably benign	Het
Dchs1	G	T	7: 105,411,824 (GRCm39)	R1431S	possibly damaging	Het
Dop1a	T	A	9: 86,400,345 (GRCm39)	H1001Q	probably damaging	Het
Efemp1	T	C	11: 28,804,528 (GRCm39)	Y19H	probably benign	Het
Eml1	T	G	12: 108,502,569 (GRCm39)	F726V	probably benign	Het
Fdx1	A	T	9: 51,859,921 (GRCm39)	D136E	probably benign	Het
Ganab	A	T	19: 8,888,192 (GRCm39)	D446V	probably damaging	Het
Gusb	A	G	5: 130,018,953 (GRCm39)	V561A	probably benign	Het
Hcn1	A	T	13: 118,010,406 (GRCm39)	D328V	unknown	Het
Hdgfl1	A	G	13: 26,954,047 (GRCm39)	Y9H	probably damaging	Het
Hes3	T	A	4: 152,371,572 (GRCm39)	S101C	probably damaging	Het
Igkv2-112	T	C	6: 68,197,579 (GRCm39)	S84P	probably benign	Het
Ints9	C	T	14: 65,257,809 (GRCm39)	P330S	possibly damaging	Het
Kdm7a	A	T	6: 39,126,235 (GRCm39)	N583K	probably damaging	Het
Klhl10	C	T	11: 100,338,227 (GRCm39)	T322M	probably damaging	Het
Kmt2c	A	T	5: 25,529,216 (GRCm39)	V1545D	possibly damaging	Het
Laptm5	T	C	4: 130,653,511 (GRCm39)		probably null	Het
Ldlr	A	G	9: 21,658,546 (GRCm39)	T833A	probably damaging	Het
Llgl1	G	T	11: 60,593,648 (GRCm39)	L40F	possibly damaging	Het
Lrrc14	T	C	15: 76,598,756 (GRCm39)	L464S	probably damaging	Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Lysmd3	T	A	13: 81,817,386 (GRCm39)	L121H		Het
Map2	T	C	1: 66,464,649 (GRCm39)	S1680P	probably damaging	Het
Med12l	T	C	3: 58,993,784 (GRCm39)	V583A	possibly damaging	Het
Mfsd4b5	A	G	10: 39,846,246 (GRCm39)	Y445H	probably damaging	Het
Morf4l1	G	A	9: 89,979,475 (GRCm39)	P169S	probably benign	Het
Nab2	C	A	10: 127,498,645 (GRCm39)	V475L	probably benign	Het
Ola1	A	G	2: 72,929,694 (GRCm39)	L303P	probably damaging	Het
Or1j19	T	A	2: 36,677,409 (GRCm39)	Y291N		Het
Or1o2	T	C	17: 37,542,727 (GRCm39)	D178G	possibly damaging	Het
Or7e166	T	C	9: 19,624,705 (GRCm39)	I194T	probably benign	Het
Or9i2	G	T	19: 13,816,225 (GRCm39)	T104K	probably damaging	Het
Pdlim3	A	T	8: 46,353,562 (GRCm39)	H99L	possibly damaging	Het
Plagl2	G	T	2: 153,073,461 (GRCm39)	T480N	probably benign	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Ptprq	C	T	10: 107,535,499 (GRCm39)	R422Q	probably benign	Het
Rad18	T	A	6: 112,664,982 (GRCm39)	R51*	probably null	Het
Rpap3	T	A	15: 97,589,185 (GRCm39)	T250S	probably benign	Het
Serpinb11	T	C	1: 107,305,262 (GRCm39)	Y213H	probably benign	Het
Slc15a4	A	G	5: 127,686,080 (GRCm39)	F201L	possibly damaging	Het
Slc25a4	A	G	8: 46,663,896 (GRCm39)	S22P	probably damaging	Het
Slfn1	T	A	11: 83,012,245 (GRCm39)	N120K	probably damaging	Het
Smok3c	T	C	5: 138,063,655 (GRCm39)	S381P	probably benign	Het
Sry	T	A	Y: 2,663,204 (GRCm39)	Q152L	unknown	Het
Taar2	T	A	10: 23,817,248 (GRCm39)	W263R	probably damaging	Het
Thnsl1	T	A	2: 21,216,924 (GRCm39)	V226E	probably benign	Het
Tmeff2	T	C	1: 51,172,279 (GRCm39)		probably null	Het
Tox	A	G	4: 6,842,408 (GRCm39)	Y41H	probably damaging	Het
Trank1	T	A	9: 111,194,957 (GRCm39)	Y994N	probably damaging	Het
Trim9	C	T	12: 70,297,789 (GRCm39)	A713T	probably damaging	Het
Ube4a	A	G	9: 44,871,333 (GRCm39)	L22P	possibly damaging	Het
Usp47	A	G	7: 111,703,583 (GRCm39)	K1165R	probably damaging	Het
Usp6nl	T	A	2: 6,435,327 (GRCm39)	I362K	probably damaging	Het
Vmn1r217	T	C	13: 23,298,369 (GRCm39)	I178V	probably benign	Het
Vmn1r45	T	A	6: 89,910,074 (GRCm39)	T299S	probably damaging	Het
Vmn2r5	A	T	3: 64,398,726 (GRCm39)	L751*	probably null	Het
Xkr8	G	A	4: 132,458,246 (GRCm39)	P144L	probably damaging	Het
Zfpm2	T	C	15: 40,616,355 (GRCm39)	I35T	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
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
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
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'- CCTGTGCTAGATTTAGAGGTGAC -3'
(R):5'- TGAGCCAGACCCAAGACTTG -3'

Sequencing Primer
(F):5'- GAGGTGACTATTAGACCATCAAATG -3'
(R):5'- AGACTTGGCATCATAACCCC -3'

Posted On

2020-07-13