Incidental Mutation 'R2047:Tub'
ID |
222111 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tub
|
Ensembl Gene |
ENSMUSG00000031028 |
Gene Name |
tubby bipartite transcription factor |
Synonyms |
tub, rd5 |
MMRRC Submission |
040054-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2047 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
108610087-108633666 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 108625939 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 230
(D230G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113580
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033341]
[ENSMUST00000119474]
[ENSMUST00000207583]
|
AlphaFold |
P50586 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033341
AA Change: D276G
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000033341 Gene: ENSMUSG00000031028 AA Change: D276G
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: D230G
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000113580 Gene: ENSMUSG00000031028 AA Change: D230G
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 |
0.4062 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
100% (57/57) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
A |
G |
7: 130,747,836 (GRCm39) |
F52S |
probably damaging |
Het |
Acot12 |
T |
C |
13: 91,931,122 (GRCm39) |
S457P |
probably damaging |
Het |
Adcy5 |
G |
A |
16: 35,110,478 (GRCm39) |
V882M |
possibly damaging |
Het |
Ahnak |
A |
G |
19: 8,991,664 (GRCm39) |
D4316G |
possibly damaging |
Het |
Aldh1l2 |
G |
A |
10: 83,342,607 (GRCm39) |
A401V |
probably damaging |
Het |
Apol7e |
A |
G |
15: 77,601,810 (GRCm39) |
H136R |
probably benign |
Het |
Arl5a |
A |
G |
2: 52,302,072 (GRCm39) |
|
probably null |
Het |
Asns |
G |
T |
6: 7,680,093 (GRCm39) |
A341E |
probably damaging |
Het |
C7 |
A |
G |
15: 5,075,143 (GRCm39) |
L183P |
probably damaging |
Het |
Cacng2 |
C |
T |
15: 78,003,037 (GRCm39) |
A19T |
probably damaging |
Het |
Ccdc121rt2 |
A |
G |
5: 112,598,575 (GRCm39) |
N374S |
probably benign |
Het |
Ccr4 |
A |
G |
9: 114,321,633 (GRCm39) |
F144S |
probably damaging |
Het |
Ckap2 |
A |
G |
8: 22,658,763 (GRCm39) |
V660A |
probably benign |
Het |
Cramp1 |
A |
T |
17: 25,222,189 (GRCm39) |
Y176* |
probably null |
Het |
Dgki |
A |
G |
6: 36,890,581 (GRCm39) |
S922P |
possibly damaging |
Het |
Drd5 |
C |
T |
5: 38,477,679 (GRCm39) |
S224L |
probably damaging |
Het |
Ei24 |
T |
C |
9: 36,691,459 (GRCm39) |
K341E |
probably benign |
Het |
Eno2 |
A |
T |
6: 124,744,659 (GRCm39) |
|
probably benign |
Het |
Epb41l4a |
T |
C |
18: 33,961,259 (GRCm39) |
N425S |
probably benign |
Het |
F13b |
T |
G |
1: 139,435,961 (GRCm39) |
C256G |
probably damaging |
Het |
Gp6 |
A |
T |
7: 4,376,270 (GRCm39) |
|
probably benign |
Het |
H2-Q7 |
A |
T |
17: 35,659,123 (GRCm39) |
R191S |
probably damaging |
Het |
Ivns1abp |
T |
A |
1: 151,227,382 (GRCm39) |
S63R |
possibly damaging |
Het |
Kcnj16 |
A |
G |
11: 110,915,946 (GRCm39) |
|
probably null |
Het |
Lpcat4 |
T |
C |
2: 112,075,142 (GRCm39) |
|
probably null |
Het |
Lrrc14b |
T |
C |
13: 74,511,561 (GRCm39) |
K173R |
probably benign |
Het |
Maml3 |
C |
A |
3: 51,597,866 (GRCm39) |
R939S |
probably damaging |
Het |
Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
Mrpl46 |
T |
A |
7: 78,431,312 (GRCm39) |
Y82F |
probably damaging |
Het |
Mthfs |
T |
A |
9: 89,097,356 (GRCm39) |
I71N |
probably damaging |
Het |
Nectin4 |
T |
C |
1: 171,212,720 (GRCm39) |
V351A |
possibly damaging |
Het |
Npas3 |
T |
C |
12: 54,115,612 (GRCm39) |
F827L |
probably damaging |
Het |
Nrp1 |
G |
A |
8: 129,224,577 (GRCm39) |
|
probably benign |
Het |
Ocln |
C |
A |
13: 100,671,632 (GRCm39) |
A242S |
probably damaging |
Het |
Or10ad1c |
T |
A |
15: 98,084,920 (GRCm39) |
T253S |
probably damaging |
Het |
Or13g1 |
G |
A |
7: 85,956,012 (GRCm39) |
T103I |
probably damaging |
Het |
Or5d37 |
A |
T |
2: 87,924,237 (GRCm39) |
N14K |
probably benign |
Het |
Pappa |
T |
C |
4: 65,149,378 (GRCm39) |
|
probably benign |
Het |
Ptpn6 |
T |
C |
6: 124,698,752 (GRCm39) |
T480A |
probably benign |
Het |
Pycr1 |
A |
T |
11: 120,532,512 (GRCm39) |
D168E |
possibly damaging |
Het |
Rnf6 |
T |
C |
5: 146,148,674 (GRCm39) |
T126A |
probably damaging |
Het |
Slc25a39 |
G |
A |
11: 102,296,657 (GRCm39) |
|
probably benign |
Het |
Slc35f4 |
G |
T |
14: 49,541,029 (GRCm39) |
|
probably benign |
Het |
Sppl2a |
C |
T |
2: 126,768,772 (GRCm39) |
A112T |
probably damaging |
Het |
Sptbn1 |
A |
C |
11: 30,088,360 (GRCm39) |
|
probably benign |
Het |
Sqle |
T |
C |
15: 59,197,907 (GRCm39) |
Y376H |
probably benign |
Het |
Terb1 |
A |
T |
8: 105,212,094 (GRCm39) |
Y296N |
probably damaging |
Het |
Ttbk2 |
T |
C |
2: 120,579,397 (GRCm39) |
H506R |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,737,879 (GRCm39) |
D4220G |
probably benign |
Het |
Ube2d3 |
T |
A |
3: 135,170,967 (GRCm39) |
I137K |
probably benign |
Het |
Vldlr |
G |
T |
19: 27,212,238 (GRCm39) |
C84F |
probably damaging |
Het |
Vmn1r54 |
A |
T |
6: 90,246,970 (GRCm39) |
I295F |
probably damaging |
Het |
Vmn2r56 |
A |
G |
7: 12,466,918 (GRCm39) |
S39P |
probably damaging |
Het |
Zfp358 |
A |
G |
8: 3,545,934 (GRCm39) |
H172R |
probably damaging |
Het |
Zfp619 |
T |
C |
7: 39,187,062 (GRCm39) |
C1031R |
probably damaging |
Het |
Zfp777 |
A |
G |
6: 48,021,280 (GRCm39) |
I114T |
probably benign |
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 |
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'- ACGCGCATAGTGTCCTTTTG -3'
(R):5'- AGTAACATTACCCATCCGGC -3'
Sequencing Primer
(F):5'- ACGCGCATAGTGTCCTTTTGATTTG -3'
(R):5'- GCACTGGCAAGCCCCTAAG -3'
|
Posted On |
2014-08-25 |