Incidental Mutation 'R0152:Tub'
ID |
22783 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tub
|
Ensembl Gene |
ENSMUSG00000031028 |
Gene Name |
tubby bipartite transcription factor |
Synonyms |
tub, rd5 |
MMRRC Submission |
038435-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0152 (G1)
|
Quality Score |
170 |
Status
|
Validated
(trace)
|
Chromosome |
7 |
Chromosomal Location |
108610087-108633666 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 108620134 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 93
(N93Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146894
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033341]
[ENSMUST00000119474]
[ENSMUST00000207583]
|
AlphaFold |
P50586 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033341
AA Change: N51Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000033341 Gene: ENSMUSG00000031028 AA Change: N51Y
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: N5Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113580 Gene: ENSMUSG00000031028 AA Change: N5Y
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 damaging
Transcript: ENSMUST00000207583
AA Change: N93Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.4431 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 89.5%
|
Validation Efficiency |
87% (40/46) |
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 |
Aass |
T |
C |
6: 23,074,688 (GRCm39) |
D834G |
probably damaging |
Het |
Abca13 |
T |
A |
11: 9,531,724 (GRCm39) |
H4650Q |
probably damaging |
Het |
Aqr |
T |
A |
2: 113,989,491 (GRCm39) |
T111S |
probably benign |
Het |
Arfip2 |
G |
A |
7: 105,286,430 (GRCm39) |
T124M |
probably damaging |
Het |
Arhgap44 |
G |
T |
11: 64,902,745 (GRCm39) |
A574E |
probably benign |
Het |
Arhgef26 |
T |
C |
3: 62,330,965 (GRCm39) |
S560P |
probably damaging |
Het |
Car5a |
T |
A |
8: 122,643,185 (GRCm39) |
N273I |
probably damaging |
Het |
Cd4 |
G |
A |
6: 124,844,709 (GRCm39) |
Q359* |
probably null |
Het |
Cgrrf1 |
G |
A |
14: 47,091,370 (GRCm39) |
C298Y |
probably damaging |
Het |
Clip3 |
G |
A |
7: 30,002,857 (GRCm39) |
A416T |
probably benign |
Het |
Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
Eif3e |
G |
A |
15: 43,115,632 (GRCm39) |
A378V |
possibly damaging |
Het |
Ercc6 |
C |
G |
14: 32,268,862 (GRCm39) |
|
probably benign |
Het |
Eri2 |
A |
G |
7: 119,389,606 (GRCm39) |
V104A |
probably damaging |
Het |
Exph5 |
T |
A |
9: 53,264,504 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
A |
T |
1: 150,539,630 (GRCm39) |
Y2954N |
probably benign |
Het |
Itga2 |
C |
T |
13: 115,002,850 (GRCm39) |
G547R |
probably benign |
Het |
Kbtbd11 |
T |
C |
8: 15,077,428 (GRCm39) |
V9A |
probably damaging |
Het |
Ldb2 |
T |
C |
5: 44,699,141 (GRCm39) |
D99G |
possibly damaging |
Het |
Mfsd12 |
G |
T |
10: 81,193,633 (GRCm39) |
D68Y |
probably damaging |
Het |
Mgarp |
T |
C |
3: 51,296,384 (GRCm39) |
D228G |
probably benign |
Het |
Myh14 |
A |
T |
7: 44,272,605 (GRCm39) |
L1441Q |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,943,402 (GRCm39) |
D4810G |
probably benign |
Het |
Or10ak9 |
T |
A |
4: 118,726,083 (GRCm39) |
I34N |
possibly damaging |
Het |
Or14c40 |
A |
T |
7: 86,313,719 (GRCm39) |
Y283F |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or5b12 |
A |
G |
19: 12,897,472 (GRCm39) |
V67A |
possibly damaging |
Het |
Or8g30 |
A |
G |
9: 39,230,757 (GRCm39) |
I51T |
probably benign |
Het |
Pdhx |
A |
G |
2: 102,858,625 (GRCm39) |
V393A |
probably benign |
Het |
Pdpk1 |
C |
T |
17: 24,325,920 (GRCm39) |
R92H |
possibly damaging |
Het |
Pgr |
A |
T |
9: 8,965,023 (GRCm39) |
I889F |
probably benign |
Het |
Pum2 |
T |
A |
12: 8,778,754 (GRCm39) |
I468K |
possibly damaging |
Het |
Recql5 |
A |
G |
11: 115,785,499 (GRCm39) |
S666P |
probably benign |
Het |
Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
Slc26a4 |
T |
C |
12: 31,579,497 (GRCm39) |
I588M |
probably damaging |
Het |
Slc9a2 |
A |
G |
1: 40,781,964 (GRCm39) |
T398A |
probably damaging |
Het |
Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
Usp3 |
T |
C |
9: 66,447,432 (GRCm39) |
T181A |
probably damaging |
Het |
Vars2 |
A |
G |
17: 35,970,919 (GRCm39) |
L637P |
probably damaging |
Het |
Vmn2r1 |
T |
C |
3: 63,989,240 (GRCm39) |
S60P |
possibly damaging |
Het |
Wdcp |
A |
G |
12: 4,901,583 (GRCm39) |
S480G |
probably benign |
Het |
Zbtb38 |
T |
C |
9: 96,568,333 (GRCm39) |
Y917C |
probably damaging |
Het |
Zfp68 |
T |
C |
5: 138,604,875 (GRCm39) |
K445E |
probably damaging |
Het |
Zmynd10 |
A |
G |
9: 107,428,144 (GRCm39) |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGACAGCTAGTCAGAAGATGCC -3'
(R):5'- ACAGGATGAATCCCTAAGCTCCGC -3'
Sequencing Primer
(F):5'- GATGCCAATAACATGAGTCCTG -3'
(R):5'- AGTCCCCCTAGCATCCTGAC -3'
|
Posted On |
2013-04-16 |