Incidental Mutation 'R2441:Tob2'
ID |
249797 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tob2
|
Ensembl Gene |
ENSMUSG00000048546 |
Gene Name |
transducer of ERBB2, 2 |
Synonyms |
2900090N22Rik, 4930545K18Rik |
MMRRC Submission |
040399-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
R2441 (G1)
|
Quality Score |
205 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
81732473-81742997 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 81735923 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 15
(Y15*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155503
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050467]
[ENSMUST00000231000]
|
AlphaFold |
Q9JM55 |
Predicted Effect |
probably null
Transcript: ENSMUST00000050467
AA Change: Y15*
|
SMART Domains |
Protein: ENSMUSP00000061390 Gene: ENSMUSG00000048546 AA Change: Y15*
Domain | Start | End | E-Value | Type |
btg1
|
1 |
106 |
3.69e-64 |
SMART |
Pfam:PAM2
|
128 |
145 |
1e-7 |
PFAM |
low complexity region
|
175 |
189 |
N/A |
INTRINSIC |
low complexity region
|
194 |
218 |
N/A |
INTRINSIC |
low complexity region
|
226 |
243 |
N/A |
INTRINSIC |
Pfam:PAM2
|
249 |
266 |
5.9e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229500
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231000
AA Change: Y15*
|
Coding Region Coverage |
- 1x: 99.2%
- 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.] TOB2 belongs to the TOB (see TOB1; MIM 605523)/BTG1 (MIM 109580) family of antiproliferative proteins, which are involved in the regulation of cell cycle progression.[supplied by OMIM, Apr 2004] PHENOTYPE: Mice homozygous for a targeted mutation display reduced bone mass due to increased osteoclast numbers and acceleration of the bone resorption rate. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,385,449 (GRCm39) |
N172S |
possibly damaging |
Het |
AY358078 |
A |
G |
14: 52,037,546 (GRCm39) |
H15R |
probably benign |
Het |
Boc |
A |
G |
16: 44,308,986 (GRCm39) |
V842A |
probably damaging |
Het |
Chuk |
T |
A |
19: 44,085,360 (GRCm39) |
N262I |
probably damaging |
Het |
Erich6 |
A |
T |
3: 58,526,232 (GRCm39) |
L590Q |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,815,685 (GRCm39) |
H3806L |
possibly damaging |
Het |
Gucy1b1 |
T |
C |
3: 81,952,761 (GRCm39) |
D224G |
probably damaging |
Het |
Hgf |
A |
T |
5: 16,809,788 (GRCm39) |
H426L |
probably damaging |
Het |
Nrxn2 |
G |
T |
19: 6,478,331 (GRCm39) |
G85W |
probably damaging |
Het |
Ntrk3 |
A |
T |
7: 77,952,410 (GRCm39) |
N602K |
probably damaging |
Het |
Or13p10 |
G |
A |
4: 118,523,332 (GRCm39) |
G206D |
possibly damaging |
Het |
Or5p51 |
T |
C |
7: 107,444,185 (GRCm39) |
T252A |
probably benign |
Het |
P3h4 |
G |
A |
11: 100,304,594 (GRCm39) |
R216W |
probably damaging |
Het |
Pced1b |
T |
A |
15: 97,282,166 (GRCm39) |
D68E |
possibly damaging |
Het |
Pzp |
A |
T |
6: 128,466,731 (GRCm39) |
L1161* |
probably null |
Het |
Rprd1a |
A |
T |
18: 24,640,257 (GRCm39) |
L173* |
probably null |
Het |
Slfn3 |
A |
G |
11: 83,103,509 (GRCm39) |
I127V |
probably benign |
Het |
Sp100 |
A |
G |
1: 85,631,210 (GRCm39) |
|
probably benign |
Het |
Tbx15 |
T |
G |
3: 99,259,827 (GRCm39) |
M566R |
probably damaging |
Het |
Tesmin |
G |
A |
19: 3,452,577 (GRCm39) |
|
probably null |
Het |
Tmem132a |
A |
G |
19: 10,837,501 (GRCm39) |
V603A |
probably damaging |
Het |
Trim23 |
A |
T |
13: 104,328,583 (GRCm39) |
Q307L |
probably damaging |
Het |
Trpc4 |
A |
T |
3: 54,129,704 (GRCm39) |
I157L |
probably damaging |
Het |
Tsen34 |
A |
T |
7: 3,697,994 (GRCm39) |
K87N |
possibly damaging |
Het |
Ubr5 |
A |
G |
15: 37,989,589 (GRCm39) |
S2076P |
probably damaging |
Het |
Vmn2r59 |
C |
T |
7: 41,695,570 (GRCm39) |
V281I |
probably benign |
Het |
Vwa3b |
T |
C |
1: 37,182,150 (GRCm39) |
|
probably benign |
Het |
Zfp384 |
C |
T |
6: 125,013,612 (GRCm39) |
P544L |
probably benign |
Het |
|
Other mutations in Tob2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0346:Tob2
|
UTSW |
15 |
81,742,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R0788:Tob2
|
UTSW |
15 |
81,735,903 (GRCm39) |
missense |
probably damaging |
0.97 |
R2018:Tob2
|
UTSW |
15 |
81,735,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R4951:Tob2
|
UTSW |
15 |
81,735,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R5248:Tob2
|
UTSW |
15 |
81,735,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R7977:Tob2
|
UTSW |
15 |
81,735,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R7987:Tob2
|
UTSW |
15 |
81,735,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R8278:Tob2
|
UTSW |
15 |
81,735,288 (GRCm39) |
missense |
probably benign |
|
R8700:Tob2
|
UTSW |
15 |
81,735,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R8788:Tob2
|
UTSW |
15 |
81,735,928 (GRCm39) |
small deletion |
probably benign |
|
R9590:Tob2
|
UTSW |
15 |
81,735,068 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCCAGACACTCAGCTCTTCG -3'
(R):5'- TGCTGGGCCTTTCTATACAAATAG -3'
Sequencing Primer
(F):5'- ACACTCAGCTCTTCGGGCAC -3'
(R):5'- GGGCCTTTCTATACAAATAGTAACC -3'
|
Posted On |
2014-11-12 |