Mutagenetix > Incidental Mutation

Incidental Mutation 'R8885:Tub'

677241

Institutional Source

Beutler Lab

Gene Symbol

Tub

Ensembl Gene

ENSMUSG00000031028

Gene Name

tubby bipartite transcription factor

Synonyms

tub, rd5

MMRRC Submission

068751-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8885 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108610087-108633666 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 108628793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 415 (N415K)

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

SMART Domains

Protein: ENSMUSP00000033341
Gene: ENSMUSG00000031028
AA Change: N415K

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: N369K

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113580
Gene: ENSMUSG00000031028
AA Change: N369K

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (104/104)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,471,525 (GRCm39)	S977C	possibly damaging	Het
Abca8a	T	A	11: 109,960,305 (GRCm39)	D646V	probably damaging	Het
Adss2	T	A	1: 177,597,526 (GRCm39)	Y378F	probably damaging	Het
Akap6	C	T	12: 53,188,319 (GRCm39)	A1911V	probably benign	Het
Alg2	T	C	4: 47,474,159 (GRCm39)	Y43C	probably benign	Het
Alk	A	C	17: 72,202,758 (GRCm39)	V1159G	probably damaging	Het
Alx3	A	T	3: 107,508,010 (GRCm39)	Q173L	probably damaging	Het
Aqp9	A	G	9: 71,069,593 (GRCm39)		probably benign	Het
Atf7ip	C	A	6: 136,564,141 (GRCm39)	L787I	probably benign	Het
Bbs9	A	T	9: 22,590,234 (GRCm39)	E657D	possibly damaging	Het
Bean1	G	A	8: 104,908,752 (GRCm39)		probably null	Het
Cactin	G	T	10: 81,157,082 (GRCm39)	R13L	unknown	Het
Ccdc178	T	C	18: 22,200,721 (GRCm39)	E412G	probably damaging	Het
Ccdc30	A	G	4: 119,181,759 (GRCm39)	I583T	probably damaging	Het
Ccl8	T	C	11: 82,006,933 (GRCm39)	Y49H	probably damaging	Het
Clptm1	T	A	7: 19,372,932 (GRCm39)	K199N	probably damaging	Het
Cnbp	G	A	6: 87,822,646 (GRCm39)	S39L	probably benign	Het
Cnih3	T	A	1: 181,237,437 (GRCm39)		probably benign	Het
Cnksr3	A	T	10: 7,090,201 (GRCm39)		probably benign	Het
Cntn1	A	G	15: 92,159,380 (GRCm39)	I512V	probably benign	Het
Col20a1	A	G	2: 180,640,296 (GRCm39)		probably benign	Het
Col28a1	A	T	6: 8,127,360 (GRCm39)		probably benign	Het
Col6a2	A	T	10: 76,450,741 (GRCm39)	Y63*	probably null	Het
Copa	T	G	1: 171,925,312 (GRCm39)	F190V	probably damaging	Het
Crisp4	A	C	1: 18,207,148 (GRCm39)		probably benign	Het
Cxcl2	C	T	5: 91,052,085 (GRCm39)	Q64*	probably null	Het
Cxcr5	T	C	9: 44,425,549 (GRCm39)	D36G	probably benign	Het
Cyp20a1	T	A	1: 60,411,765 (GRCm39)	V271E	possibly damaging	Het
D430041D05Rik	T	C	2: 104,071,538 (GRCm39)	Y570C	probably damaging	Het
Ddi1	T	G	9: 6,266,198 (GRCm39)	D57A	probably benign	Het
Ddx11	T	A	17: 66,450,460 (GRCm39)	S492T	probably benign	Het
Dhx34	C	T	7: 15,950,376 (GRCm39)	R264H	probably damaging	Het
Dnah3	T	A	7: 119,561,375 (GRCm39)	I328F		Het
Dnah5	C	T	15: 28,327,886 (GRCm39)	R2087C	probably damaging	Het
Dnah8	C	G	17: 30,927,286 (GRCm39)	S1314W	possibly damaging	Het
Dock2	T	C	11: 34,260,396 (GRCm39)	N982D	probably benign	Het
Dync1h1	A	G	12: 110,583,172 (GRCm39)	D423G	probably damaging	Het
Ect2l	A	C	10: 18,048,583 (GRCm39)	L213V	probably damaging	Het
Fam210a	T	C	18: 68,409,215 (GRCm39)	I32V	probably benign	Het
Fancg	A	G	4: 43,007,266 (GRCm39)		probably null	Het
Fastkd5	T	C	2: 130,457,111 (GRCm39)	E493G	probably benign	Het
Fbxo38	T	C	18: 62,659,272 (GRCm39)	M342V	probably damaging	Het
Flnc	A	C	6: 29,455,410 (GRCm39)	K2020Q	probably damaging	Het
Flt4	A	G	11: 49,527,160 (GRCm39)		probably benign	Het
Frmd4b	G	T	6: 97,389,480 (GRCm39)	P129T	probably benign	Het
Galnt13	C	A	2: 54,770,138 (GRCm39)	A310E	probably benign	Het
Gm4884	T	A	7: 40,694,108 (GRCm39)	Y692*	probably null	Het
Gm6309	T	A	5: 146,105,103 (GRCm39)	D270V	probably damaging	Het
Grip1	G	T	10: 119,290,192 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kdf1	G	T	4: 133,255,505 (GRCm39)	C74F	probably damaging	Het
Kdm1b	T	A	13: 47,207,184 (GRCm39)	C169*	probably null	Het
Kmt2c	G	T	5: 25,520,077 (GRCm39)	T2011K	probably benign	Het
Lama1	G	A	17: 68,080,779 (GRCm39)	G1269E		Het
Lamb3	C	T	1: 193,017,182 (GRCm39)	A791V	probably benign	Het
Leng9	G	T	7: 4,151,774 (GRCm39)	R301S	possibly damaging	Het
Lgr6	C	A	1: 134,915,342 (GRCm39)	V746L	probably benign	Het
Lrp5	T	A	19: 3,702,170 (GRCm39)	S216C	probably damaging	Het
Ltn1	T	C	16: 87,178,433 (GRCm39)	T1599A	probably damaging	Het
Map2k1	G	T	9: 64,094,606 (GRCm39)	N345K	probably damaging	Het
Map4k1	T	A	7: 28,688,862 (GRCm39)	D304E	probably benign	Het
Mcpt1	C	T	14: 56,256,522 (GRCm39)	T86I	probably damaging	Het
Mcpt9	T	C	14: 56,265,153 (GRCm39)	K116R	probably benign	Het
Morc2a	G	T	11: 3,628,584 (GRCm39)	A346S	probably damaging	Het
Mybpc3	A	T	2: 90,954,237 (GRCm39)	Q370L	probably benign	Het
Nars2	T	C	7: 96,652,095 (GRCm39)	S229P	probably damaging	Het
Ndufa10	A	T	1: 92,397,693 (GRCm39)	Y118N	probably damaging	Het
Nek11	A	T	9: 105,172,571 (GRCm39)		probably null	Het
Notch4	T	C	17: 34,803,470 (GRCm39)	V1463A	possibly damaging	Het
Nrcam	T	C	12: 44,610,908 (GRCm39)	I536T	probably benign	Het
Or6c202	T	C	10: 128,996,334 (GRCm39)	Y173C	probably benign	Het
Pbld1	A	T	10: 62,912,226 (GRCm39)	T285S	probably benign	Het
Pcdhgb8	A	T	18: 37,896,177 (GRCm39)	T416S	possibly damaging	Het
Plekhg6	T	C	6: 125,351,523 (GRCm39)	D242G	probably damaging	Het
Pnmt	T	A	11: 98,278,580 (GRCm39)	V182D	probably benign	Het
Ppp1r13b	G	T	12: 111,799,871 (GRCm39)	N758K	probably damaging	Het
Prex2	A	G	1: 11,240,799 (GRCm39)		probably benign	Het
Prss3	A	T	6: 41,354,512 (GRCm39)	L7Q	probably damaging	Het
Prss43	T	A	9: 110,660,046 (GRCm39)	L370Q	probably damaging	Het
Rac1	A	T	5: 143,493,885 (GRCm39)	V104E	probably damaging	Het
Rgs9	T	C	11: 109,166,449 (GRCm39)	Y107C	probably damaging	Het
Rnase13	C	T	14: 52,159,940 (GRCm39)	W66*	probably null	Het
Rrp1b	G	A	17: 32,270,688 (GRCm39)	V216I	possibly damaging	Het
Serinc1	A	G	10: 57,395,864 (GRCm39)	S309P	probably benign	Het
Serpine3	T	A	14: 62,902,587 (GRCm39)	L66Q	probably damaging	Het
Smc5	C	T	19: 23,191,234 (GRCm39)	V924M	probably damaging	Het
Spmip4	A	T	6: 50,551,028 (GRCm39)	Y474N	possibly damaging	Het
Srgap1	A	T	10: 121,761,545 (GRCm39)		probably benign	Het
Stab1	T	C	14: 30,883,771 (GRCm39)	E262G	possibly damaging	Het
Ston2	A	G	12: 91,606,498 (GRCm39)	*896R	probably null	Het
Syt6	A	G	3: 103,532,941 (GRCm39)	M442V	probably benign	Het
Tap1	T	C	17: 34,408,536 (GRCm39)		probably null	Het
Tbx3	A	C	5: 119,818,624 (GRCm39)	S420R	probably benign	Het
Tespa1	A	T	10: 130,198,316 (GRCm39)	Q446L	probably benign	Het
Tifab	T	C	13: 56,324,108 (GRCm39)	M112V	probably benign	Het
Trpv5	A	T	6: 41,630,192 (GRCm39)	S633T	possibly damaging	Het
Ttn	T	C	2: 76,684,236 (GRCm39)	K838R	unknown	Het
Ttn	A	T	2: 76,744,810 (GRCm39)	V5413E	probably damaging	Het
Vmn2r3	T	C	3: 64,182,383 (GRCm39)	M439V	probably benign	Het
Vps13c	A	G	9: 67,850,736 (GRCm39)	D2231G	probably benign	Het
Wbp1	C	T	6: 83,096,913 (GRCm39)	C118Y	unknown	Het
Zdhhc20	C	T	14: 58,127,671 (GRCm39)		probably benign	Het
Zfp217	T	A	2: 169,956,391 (GRCm39)	N869I	probably benign	Het
Zfp677	T	C	17: 21,618,350 (GRCm39)	I469T	probably benign	Het
Zmym2	T	A	14: 57,185,329 (GRCm39)		probably benign	Het
Zzef1	T	G	11: 72,687,402 (GRCm39)	S94A	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
R8223:Tub	UTSW	7	108,628,533 (GRCm39)	missense	probably benign	0.33
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'- TCTGTACGGGCTTCTAAGAATCC -3'
(R):5'- TATGGACCAGATCAGGGGATTG -3'

Sequencing Primer
(F):5'- GGCTTCTAAGAATCCCATCAAGGTG -3'
(R):5'- GGCACCATGCGTACAACATC -3'

Posted On

2021-08-02