Incidental Mutation 'IGL02715:Tub'
ID |
304717 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tub
|
Ensembl Gene |
ENSMUSG00000031028 |
Gene Name |
tubby bipartite transcription factor |
Synonyms |
tub, rd5 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02715
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
108610087-108633666 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 108628517 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
|
AlphaFold |
P50586 |
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
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: ENSMUST00000119474
AA Change: V342I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113580 Gene: ENSMUSG00000031028 AA Change: V342I
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
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
T |
C |
11: 72,089,714 (GRCm39) |
I57V |
probably damaging |
Het |
Abce1 |
T |
A |
8: 80,416,990 (GRCm39) |
E340D |
probably damaging |
Het |
Agbl2 |
C |
T |
2: 90,636,212 (GRCm39) |
R583W |
probably damaging |
Het |
Aig1 |
A |
G |
10: 13,744,360 (GRCm39) |
|
probably null |
Het |
Atpsckmt |
A |
G |
15: 31,606,149 (GRCm39) |
T36A |
probably benign |
Het |
Brd3 |
C |
A |
2: 27,344,495 (GRCm39) |
A412S |
possibly damaging |
Het |
C3 |
A |
G |
17: 57,511,158 (GRCm39) |
|
probably benign |
Het |
Ccdc127 |
A |
G |
13: 74,504,893 (GRCm39) |
E147G |
probably benign |
Het |
Chrna4 |
A |
G |
2: 180,671,374 (GRCm39) |
|
probably benign |
Het |
Cnn2 |
T |
C |
10: 79,829,323 (GRCm39) |
L151P |
probably damaging |
Het |
Col11a1 |
G |
T |
3: 113,923,058 (GRCm39) |
M7I |
probably benign |
Het |
Cstdc4 |
T |
C |
16: 36,008,315 (GRCm39) |
I67T |
possibly damaging |
Het |
Fastkd1 |
A |
G |
2: 69,542,469 (GRCm39) |
|
probably null |
Het |
Fcho2 |
A |
G |
13: 98,932,843 (GRCm39) |
M53T |
probably damaging |
Het |
Fmnl2 |
T |
C |
2: 52,962,222 (GRCm39) |
Y236H |
possibly damaging |
Het |
G6bos |
A |
G |
17: 35,284,537 (GRCm39) |
|
probably null |
Het |
Gramd1a |
C |
T |
7: 30,835,279 (GRCm39) |
G436D |
probably damaging |
Het |
Hivep2 |
A |
G |
10: 14,007,131 (GRCm39) |
Y1243C |
probably benign |
Het |
Lrit2 |
A |
G |
14: 36,794,505 (GRCm39) |
D523G |
probably benign |
Het |
Lrrc2 |
A |
C |
9: 110,799,182 (GRCm39) |
D177A |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,848,905 (GRCm39) |
|
probably null |
Het |
Mrgpra6 |
A |
T |
7: 46,838,396 (GRCm39) |
|
probably benign |
Het |
Myh6 |
T |
C |
14: 55,184,365 (GRCm39) |
|
probably benign |
Het |
Myzap |
C |
A |
9: 71,422,397 (GRCm39) |
E392* |
probably null |
Het |
Ndst3 |
G |
A |
3: 123,340,410 (GRCm39) |
|
probably benign |
Het |
Nlrc5 |
C |
A |
8: 95,201,296 (GRCm39) |
P130H |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,971,137 (GRCm39) |
T2526A |
probably benign |
Het |
Or1e26 |
T |
A |
11: 73,479,947 (GRCm39) |
I206F |
probably benign |
Het |
Pcnt |
C |
A |
10: 76,204,556 (GRCm39) |
|
probably benign |
Het |
Pfpl |
T |
A |
19: 12,407,145 (GRCm39) |
C465* |
probably null |
Het |
Pkd1l3 |
T |
A |
8: 110,353,458 (GRCm39) |
C680S |
probably damaging |
Het |
Ppp1r10 |
G |
T |
17: 36,241,604 (GRCm39) |
G793V |
unknown |
Het |
Prss27 |
A |
T |
17: 24,263,953 (GRCm39) |
D213V |
possibly damaging |
Het |
Sh2d5 |
T |
C |
4: 137,984,018 (GRCm39) |
|
probably benign |
Het |
Spata31d1a |
T |
C |
13: 59,851,549 (GRCm39) |
D193G |
probably benign |
Het |
Sptan1 |
T |
C |
2: 29,868,588 (GRCm39) |
V66A |
probably benign |
Het |
Synpr |
T |
C |
14: 13,608,618 (GRCm38) |
S133P |
probably damaging |
Het |
Tagln3 |
T |
C |
16: 45,544,588 (GRCm39) |
N28D |
probably benign |
Het |
Tfrc |
A |
G |
16: 32,443,189 (GRCm39) |
T494A |
probably benign |
Het |
Tmem38a |
T |
C |
8: 73,333,512 (GRCm39) |
I77T |
possibly damaging |
Het |
Tmem42 |
C |
A |
9: 122,851,295 (GRCm39) |
T86N |
probably damaging |
Het |
Ttc8 |
T |
A |
12: 98,910,179 (GRCm39) |
|
probably benign |
Het |
Vmn2r103 |
A |
T |
17: 20,014,218 (GRCm39) |
I337F |
probably damaging |
Het |
Xkr7 |
A |
G |
2: 152,896,277 (GRCm39) |
E377G |
probably damaging |
Het |
Zfp292 |
C |
T |
4: 34,819,542 (GRCm39) |
G260D |
probably damaging |
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 |
|
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 |
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 |
|
Posted On |
2015-04-16 |