Incidental Mutation 'R3694:Tub'
| ID |
268906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tub
|
| Ensembl Gene |
ENSMUSG00000031028 |
| Gene Name |
tubby bipartite transcription factor |
| Synonyms |
tub, rd5 |
| MMRRC Submission |
040689-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3694 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
108610087-108633666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108627039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 313
(S313G)
|
| 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: S359G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033341
Gene: ENSMUSG00000031028
AA Change: S359G
| 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: S313G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113580
Gene: ENSMUSG00000031028
AA Change: S313G
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
A |
G |
7: 12,284,443 (GRCm39) |
I97V |
possibly damaging |
Het |
| AI182371 |
A |
G |
2: 34,975,764 (GRCm39) |
C267R |
probably benign |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp8b1 |
G |
A |
18: 64,666,792 (GRCm39) |
T1135I |
possibly damaging |
Het |
| Avil |
T |
C |
10: 126,844,199 (GRCm39) |
Y253H |
probably damaging |
Het |
| Bcas3 |
G |
T |
11: 85,692,628 (GRCm39) |
V338L |
probably benign |
Het |
| Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
| Ccdc158 |
T |
C |
5: 92,757,904 (GRCm39) |
E1056G |
probably damaging |
Het |
| Clcn7 |
T |
A |
17: 25,378,681 (GRCm39) |
I722N |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,300,821 (GRCm39) |
Y552H |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp3a25 |
A |
T |
5: 145,926,786 (GRCm39) |
|
probably null |
Het |
| Dmrta1 |
T |
A |
4: 89,580,415 (GRCm39) |
Y458* |
probably null |
Het |
| Eya1 |
A |
G |
1: 14,299,725 (GRCm39) |
Y343H |
probably damaging |
Het |
| Fads2b |
T |
G |
2: 85,324,454 (GRCm39) |
I291L |
probably benign |
Het |
| Fbln5 |
T |
C |
12: 101,731,511 (GRCm39) |
N228D |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,553,230 (GRCm39) |
F393L |
probably damaging |
Het |
| Gpr63 |
A |
G |
4: 25,007,993 (GRCm39) |
Y239C |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,133,827 (GRCm39) |
M408V |
probably benign |
Het |
| Lztr1 |
G |
A |
16: 17,326,925 (GRCm39) |
A12T |
possibly damaging |
Het |
| Magi2 |
A |
AG |
5: 20,807,459 (GRCm39) |
|
probably null |
Het |
| Mutyh |
T |
A |
4: 116,673,651 (GRCm39) |
S146T |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,969,221 (GRCm39) |
K2460E |
probably damaging |
Het |
| Or4p18 |
A |
T |
2: 88,232,540 (GRCm39) |
I246N |
possibly damaging |
Het |
| Or5b112 |
T |
C |
19: 13,319,893 (GRCm39) |
I257T |
possibly damaging |
Het |
| Ppfia4 |
G |
T |
1: 134,240,305 (GRCm39) |
T896K |
probably damaging |
Het |
| Ppp2r2a |
C |
A |
14: 67,257,199 (GRCm39) |
D344Y |
probably damaging |
Het |
| Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
| Scn9a |
T |
G |
2: 66,392,749 (GRCm39) |
E281A |
probably benign |
Het |
| Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
| Syt7 |
G |
T |
19: 10,413,000 (GRCm39) |
R265L |
possibly damaging |
Het |
| Vmn2r18 |
A |
G |
5: 151,508,033 (GRCm39) |
F364L |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,044 (GRCm39) |
N97D |
probably damaging |
Het |
| Vmn2r85 |
A |
G |
10: 130,254,171 (GRCm39) |
S838P |
probably damaging |
Het |
| Vmn2r92 |
T |
A |
17: 18,372,205 (GRCm39) |
L5* |
probably null |
Het |
| Zfyve28 |
A |
G |
5: 34,374,812 (GRCm39) |
F401L |
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 |
|
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 |
|
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'- ACTTCCACTGTGTTCCCAGG -3'
(R):5'- TGAAGACAGGTTAAGGTCTAGTC -3'
Sequencing Primer
(F):5'- GCCCATGCCATGAATGCTGTG -3'
(R):5'- GGTTAAGGTCTAGTCCCACACAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation