Mutagenetix > Incidental Mutation

Incidental Mutation 'R9414:Tub'

711942

Institutional Source

Beutler Lab

Gene Symbol

Tub

Ensembl Gene

ENSMUSG00000031028

Gene Name

tubby bipartite transcription factor

Synonyms

tub, rd5

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9414 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108610087-108633666 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108626265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 267 (I267N)

Ref Sequence

ENSEMBL: ENSMUSP00000113580 (fasta)

Gene Model

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

AlphaFold

P50586

Predicted Effect

probably damaging
Transcript: ENSMUST00000033341
AA Change: I313N

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

SMART Domains

Protein: ENSMUSP00000033341
Gene: ENSMUSG00000031028
AA Change: I313N

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 damaging
Transcript: ENSMUST00000119474
AA Change: I267N

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

SMART Domains

Protein: ENSMUSP00000113580
Gene: ENSMUSG00000031028
AA Change: I267N

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

noncoding transcript
Transcript: ENSMUST00000147943

Predicted Effect

probably benign
Transcript: ENSMUST00000207583

Meta Mutation Damage Score

0.9370

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

98% (59/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	T	11: 110,035,100 (GRCm39)	I689K	probably damaging	Het
Agtpbp1	G	T	13: 59,609,902 (GRCm39)	T1076K	probably damaging	Het
Ammecr1l	A	G	18: 31,904,962 (GRCm39)	T68A	probably benign	Het
Arvcf	A	G	16: 18,215,580 (GRCm39)	E264G	probably damaging	Het
Cacna1b	C	T	2: 24,538,514 (GRCm39)	D1542N	probably damaging	Het
Cacna2d2	A	G	9: 107,392,395 (GRCm39)	T512A	probably damaging	Het
Crebbp	A	G	16: 3,925,356 (GRCm39)	C1213R	probably damaging	Het
Cybrd1	G	T	2: 70,948,567 (GRCm39)	R35L	probably damaging	Het
Dcaf1	G	A	9: 106,757,158 (GRCm39)	W1412*	probably null	Het
Eif4e	T	A	3: 138,253,495 (GRCm39)	D67E	probably benign	Het
Epb41	G	A	4: 131,702,162 (GRCm39)	T491I	probably damaging	Het
Fez1	G	A	9: 36,779,247 (GRCm39)	S308N	probably benign	Het
Fgfr3	A	G	5: 33,887,298 (GRCm39)	S206G	possibly damaging	Het
Flcn	A	T	11: 59,684,998 (GRCm39)	N484K	possibly damaging	Het
Gdap2	T	C	3: 100,090,071 (GRCm39)		probably null	Het
Gfpt1	T	A	6: 87,062,265 (GRCm39)	D541E	probably benign	Het
Gm5089	A	G	14: 122,673,604 (GRCm39)	F39S	unknown	Het
Gm7694	C	T	1: 170,130,173 (GRCm39)	G75D	probably benign	Het
Gpr15	A	G	16: 58,538,516 (GRCm39)	L191S	probably benign	Het
Hmcn1	T	G	1: 150,545,187 (GRCm39)	T2807P	probably damaging	Het
Iqgap2	T	C	13: 95,783,349 (GRCm39)	T1276A		Het
Itgae	G	T	11: 73,002,629 (GRCm39)	A129S	possibly damaging	Het
Kcns1	T	C	2: 164,010,378 (GRCm39)	E127G	probably damaging	Het
Kmt2b	T	C	7: 30,282,307 (GRCm39)	E1118G	probably damaging	Het
Lair1	T	C	7: 4,013,819 (GRCm39)	I143V	probably benign	Het
Lcmt2	T	C	2: 120,970,621 (GRCm39)	D154G	possibly damaging	Het
Ly9	T	C	1: 171,427,275 (GRCm39)	T427A	probably damaging	Het
Man2c1	A	G	9: 57,044,030 (GRCm39)	T281A	possibly damaging	Het
Map4k2	T	C	19: 6,394,515 (GRCm39)	F332L	probably benign	Het
Meak7	A	T	8: 120,495,081 (GRCm39)	S226T	probably benign	Het
Mmp10	A	T	9: 7,502,489 (GRCm39)	D32V	probably benign	Het
Mroh2a	C	T	1: 88,179,096 (GRCm39)	R1110W	probably benign	Het
Naip2	T	A	13: 100,298,243 (GRCm39)	S598C	probably damaging	Het
Npnt	T	C	3: 132,612,116 (GRCm39)	N300S	probably benign	Het
Or13a20	C	A	7: 140,232,263 (GRCm39)	R124S	probably damaging	Het
Or5b95	T	C	19: 12,657,712 (GRCm39)	V80A	probably benign	Het
Or5k15	G	A	16: 58,710,565 (GRCm39)	T6I	probably benign	Het
Pacsin1	T	C	17: 27,926,985 (GRCm39)	V387A	probably damaging	Het
Pald1	G	T	10: 61,178,932 (GRCm39)	A489E	probably benign	Het
Pcnx1	G	T	12: 81,964,978 (GRCm39)	G382W	probably damaging	Het
Pde6b	T	A	5: 108,567,592 (GRCm39)	M294K	possibly damaging	Het
Phf20	T	C	2: 156,136,167 (GRCm39)	V662A	probably benign	Het
Plcg1	T	C	2: 160,603,276 (GRCm39)	I1149T	possibly damaging	Het
Prdx2	T	C	8: 85,697,196 (GRCm39)	S79P	probably damaging	Het
Rab19	T	C	6: 39,360,855 (GRCm39)	M1T	probably null	Het
Retn	T	G	8: 3,706,908 (GRCm39)	F44C	probably damaging	Het
Rp1	A	T	1: 4,313,841 (GRCm39)	W507R	unknown	Het
Rsf1	A	C	7: 97,313,765 (GRCm39)		probably null	Het
Ryr3	C	T	2: 112,501,011 (GRCm39)	E3561K	possibly damaging	Het
Scaf1	T	A	7: 44,652,716 (GRCm39)	Y1220F	unknown	Het
Sowahc	A	G	10: 59,058,491 (GRCm39)	K209R	probably benign	Het
Supt20	T	A	3: 54,610,504 (GRCm39)	I103N	probably damaging	Het
Tenm4	A	G	7: 96,545,367 (GRCm39)	E2498G	probably benign	Het
Tet1	T	C	10: 62,674,935 (GRCm39)	N1047S	probably benign	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Uggt1	T	C	1: 36,223,507 (GRCm39)	E594G	probably benign	Het
Vmn2r104	T	A	17: 20,250,250 (GRCm39)	I674F	probably damaging	Het
Zbed6	T	C	1: 133,585,015 (GRCm39)	D774G	probably damaging	Het
Zcchc4	T	C	5: 52,953,964 (GRCm39)	S215P	probably benign	Het
Zfc3h1	T	G	10: 115,249,916 (GRCm39)	S1177A	possibly damaging	Het
Zfp646	G	A	7: 127,481,050 (GRCm39)	A1076T	probably damaging	Het
Zfp735	T	A	11: 73,602,023 (GRCm39)	Y322*	probably null	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
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
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'- TTCTCCAGAGAAGTAAGCGTTTTG -3'
(R):5'- CAACACCCTGGTTTGACTTGTC -3'

Sequencing Primer
(F):5'- CCAGAGAAGTAAGCGTTTTGTGTGG -3'
(R):5'- TGACTTGTCACTCACGCTGGG -3'

Posted On

2022-05-16