Incidental Mutation 'IGL02715:Tub'
ID304717
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tub
Ensembl Gene ENSMUSG00000031028
Gene Nametubby bipartite transcription factor
Synonymsrd5, tub
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02715
Quality Score
Status
Chromosome7
Chromosomal Location108950338-109034460 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 109029310 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 342 (V342I)
Ref Sequence ENSEMBL: ENSMUSP00000113580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033341] [ENSMUST00000119474]
Predicted Effect probably benign
Transcript: ENSMUST00000033341
AA Change: V388I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033341
Gene: ENSMUSG00000031028
AA Change: V388I

DomainStartEndE-ValueType
Pfam:Tub_N 29 237 2.5e-58 PFAM
Pfam:Tub 257 499 2.4e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119474
AA Change: V342I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113580
Gene: ENSMUSG00000031028
AA Change: V342I

DomainStartEndE-ValueType
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
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,198,888 I57V probably damaging Het
Abce1 T A 8: 79,690,361 E340D probably damaging Het
Agbl2 C T 2: 90,805,868 R583W probably damaging Het
Aig1 A G 10: 13,868,616 probably null Het
Brd3 C A 2: 27,454,483 A412S possibly damaging Het
C3 A G 17: 57,204,158 probably benign Het
Ccdc127 A G 13: 74,356,774 E147G probably benign Het
Chrna4 A G 2: 181,029,581 probably benign Het
Cnn2 T C 10: 79,993,489 L151P probably damaging Het
Col11a1 G T 3: 114,129,409 M7I probably benign Het
Fam173b A G 15: 31,606,003 T36A probably benign Het
Fastkd1 A G 2: 69,712,125 probably null Het
Fcho2 A G 13: 98,796,335 M53T probably damaging Het
Fmnl2 T C 2: 53,072,210 Y236H possibly damaging Het
G6bos A G 17: 35,065,561 probably null Het
Gm5483 T C 16: 36,187,945 I67T possibly damaging Het
Gramd1a C T 7: 31,135,854 G436D probably damaging Het
Hivep2 A G 10: 14,131,387 Y1243C probably benign Het
Lrit2 A G 14: 37,072,548 D523G probably benign Het
Lrrc2 A C 9: 110,970,114 D177A probably damaging Het
Lyst T A 13: 13,674,320 probably null Het
Mrgpra6 A T 7: 47,188,648 probably benign Het
Myh6 T C 14: 54,946,908 probably benign Het
Myzap C A 9: 71,515,115 E392* probably null Het
Ndst3 G A 3: 123,546,761 probably benign Het
Nlrc5 C A 8: 94,474,668 P130H probably damaging Het
Obscn T C 11: 59,080,311 T2526A probably benign Het
Olfr385 T A 11: 73,589,121 I206F probably benign Het
Pcnt C A 10: 76,368,722 probably benign Het
Pfpl T A 19: 12,429,781 C465* probably null Het
Pkd1l3 T A 8: 109,626,826 C680S probably damaging Het
Ppp1r10 G T 17: 35,930,712 G793V unknown Het
Prss27 A T 17: 24,044,979 D213V possibly damaging Het
Sh2d5 T C 4: 138,256,707 probably benign Het
Spata31d1a T C 13: 59,703,735 D193G probably benign Het
Sptan1 T C 2: 29,978,576 V66A probably benign Het
Synpr T C 14: 13,608,618 S133P probably damaging Het
Tagln3 T C 16: 45,724,225 N28D probably benign Het
Tfrc A G 16: 32,624,371 T494A probably benign Het
Tmem38a T C 8: 72,579,668 I77T possibly damaging Het
Tmem42 C A 9: 123,022,230 T86N probably damaging Het
Ttc8 T A 12: 98,943,920 probably benign Het
Vmn2r103 A T 17: 19,793,956 I337F probably damaging Het
Xkr7 A G 2: 153,054,357 E377G probably damaging Het
Zfp292 C T 4: 34,819,542 G260D probably damaging Het
Other mutations in Tub
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01694:Tub APN 7 109021036 splice site probably benign
grasso UTSW 7 109029650 missense probably damaging 1.00
troy UTSW 7 109020954 nonsense probably null
R0152:Tub UTSW 7 109020927 missense probably damaging 1.00
R0233:Tub UTSW 7 109029341 missense possibly damaging 0.63
R0233:Tub UTSW 7 109029341 missense possibly damaging 0.63
R0317:Tub UTSW 7 109020927 missense probably damaging 1.00
R1382:Tub UTSW 7 109030153 missense probably damaging 1.00
R1395:Tub UTSW 7 109020954 nonsense probably null
R1588:Tub UTSW 7 109029681 missense probably damaging 1.00
R1975:Tub UTSW 7 109027835 missense possibly damaging 0.74
R2047:Tub UTSW 7 109026732 missense probably benign 0.30
R2121:Tub UTSW 7 109026737 missense probably damaging 1.00
R2414:Tub UTSW 7 109027033 missense probably damaging 1.00
R3694:Tub UTSW 7 109027832 missense probably benign
R3695:Tub UTSW 7 109027832 missense probably benign
R4914:Tub UTSW 7 109020954 nonsense probably null
R5139:Tub UTSW 7 109011102 start codon destroyed probably null 0.53
R5347:Tub UTSW 7 109026771 missense possibly damaging 0.67
R5557:Tub UTSW 7 109025718 missense probably damaging 0.99
R6000:Tub UTSW 7 109029650 missense probably damaging 1.00
R6245:Tub UTSW 7 109027058 missense probably damaging 1.00
R6888:Tub UTSW 7 109029298 missense probably null 1.00
R7316:Tub UTSW 7 109030171 missense possibly damaging 0.69
R8120:Tub UTSW 7 109025596 splice site probably null
R8223:Tub UTSW 7 109029326 missense probably benign 0.33
RF005:Tub UTSW 7 109022639 missense probably benign 0.00
Posted On2015-04-16