Incidental Mutation 'R1382:Tub'
| ID |
163091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tub
|
| Ensembl Gene |
ENSMUSG00000031028 |
| Gene Name |
tubby bipartite transcription factor |
| Synonyms |
tub, rd5 |
| MMRRC Submission |
039444-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1382 (G1)
|
| Quality Score |
181 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
108610087-108633666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108629360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 426
(V426I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033341]
[ENSMUST00000055993]
[ENSMUST00000119474]
[ENSMUST00000147580]
|
| AlphaFold |
P50586 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033341
AA Change: V472I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000033341
Gene: ENSMUSG00000031028
AA Change: V472I
| 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 damaging
Transcript: ENSMUST00000119474
AA Change: V426I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113580
Gene: ENSMUSG00000031028
AA Change: V426I
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147943
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.8%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
C |
T |
15: 72,998,889 (GRCm39) |
C236Y |
probably benign |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,315,955 (GRCm39) |
T916A |
probably damaging |
Het |
| Ceacam5 |
T |
C |
7: 17,486,090 (GRCm39) |
V529A |
probably benign |
Het |
| Cep192 |
G |
A |
18: 67,989,370 (GRCm39) |
R1839Q |
possibly damaging |
Het |
| Cope |
A |
G |
8: 70,765,513 (GRCm39) |
N295S |
probably benign |
Het |
| Crocc2 |
G |
A |
1: 93,144,815 (GRCm39) |
|
probably null |
Het |
| Cuedc1 |
C |
T |
11: 88,068,189 (GRCm39) |
P146S |
probably benign |
Het |
| Ddc |
T |
C |
11: 11,774,856 (GRCm39) |
D345G |
possibly damaging |
Het |
| Dsg4 |
T |
A |
18: 20,598,181 (GRCm39) |
C700S |
probably benign |
Het |
| Dst |
A |
T |
1: 34,307,914 (GRCm39) |
E6224D |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,721,362 (GRCm39) |
T334A |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Glyr1 |
GCTGCC |
G |
16: 4,839,209 (GRCm39) |
|
probably null |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Lemd3 |
A |
T |
10: 120,767,641 (GRCm39) |
I711K |
probably damaging |
Het |
| Lrrc8b |
A |
G |
5: 105,628,749 (GRCm39) |
D365G |
probably damaging |
Het |
| Mdga2 |
A |
T |
12: 66,517,690 (GRCm39) |
I48K |
possibly damaging |
Het |
| Or51q1c |
G |
T |
7: 103,652,927 (GRCm39) |
L148F |
probably benign |
Het |
| Pate7 |
T |
A |
9: 35,689,390 (GRCm39) |
|
probably benign |
Het |
| Pdzph1 |
A |
G |
17: 59,281,742 (GRCm39) |
V180A |
probably benign |
Het |
| Phactr1 |
T |
C |
13: 43,286,451 (GRCm39) |
F584S |
probably damaging |
Het |
| Ppan |
A |
G |
9: 20,803,214 (GRCm39) |
K429E |
probably benign |
Het |
| Prkd3 |
A |
G |
17: 79,264,674 (GRCm39) |
V647A |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Ptpru |
A |
G |
4: 131,535,540 (GRCm39) |
F407S |
probably damaging |
Het |
| Rab3gap1 |
A |
T |
1: 127,870,333 (GRCm39) |
T985S |
probably damaging |
Het |
| Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Tet2 |
C |
T |
3: 133,182,376 (GRCm39) |
G1196D |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,856,471 (GRCm39) |
Y498C |
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 |
|
|
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 |
|
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'- TTCCAGATCATCCACGGCAATGAC -3'
(R):5'- AGCCCATAGAGGGCCTATGAACAG -3'
Sequencing Primer
(F):5'- GATCTGGTCCATATCAGCCAGTG -3'
(R):5'- CCTATGAACAGAGGGTAGGCAG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation