Incidental Mutation 'R4537:Tob1'
| ID |
333386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tob1
|
| Ensembl Gene |
ENSMUSG00000037573 |
| Gene Name |
transducer of ErbB-2.1 |
| Synonyms |
Tob, Trob |
| MMRRC Submission |
041774-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4537 (G1)
|
| Quality Score |
106 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94102280-94106321 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
ACAGCAGCAGCAGCAGCAGCAGCAGCA to ACAGCAGCAGCAGCAGCAGCAGCA
at 94105278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041589]
|
| AlphaFold |
Q61471 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041589
|
| SMART Domains |
Protein: ENSMUSP00000036039
Gene: ENSMUSG00000037573
| Domain | Start | End | E-Value | Type |
|---|
|
btg1
|
1 |
106 |
2.41e-77 |
SMART |
|
low complexity region
|
141 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
280 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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 transducer of erbB-2 /B-cell translocation gene protein family. Members of this family are anti-proliferative factors that have the potential to regulate cell growth. The encoded protein may function as a tumor suppressor. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice are viable and exhibit increased bone mass due to increased osteoblast proliferation and differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4b |
T |
A |
13: 14,294,746 (GRCm39) |
Y9* |
probably null |
Het |
| Aspm |
T |
C |
1: 139,402,041 (GRCm39) |
I1235T |
probably benign |
Het |
| Defb30 |
T |
C |
14: 63,273,525 (GRCm39) |
I29M |
probably damaging |
Het |
| Dnajc13 |
CT |
C |
9: 104,064,004 (GRCm39) |
|
probably benign |
Het |
| Dpy19l3 |
T |
C |
7: 35,411,326 (GRCm39) |
T428A |
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,399,424 (GRCm39) |
T560A |
probably benign |
Het |
| Fnip2 |
A |
G |
3: 79,373,021 (GRCm39) |
V1019A |
probably damaging |
Het |
| Fus |
A |
G |
7: 127,575,087 (GRCm39) |
D268G |
probably damaging |
Het |
| Gm14412 |
T |
A |
2: 177,006,352 (GRCm39) |
K514N |
probably benign |
Het |
| Gphn |
T |
C |
12: 78,540,788 (GRCm39) |
L265P |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,562,083 (GRCm39) |
M589T |
probably benign |
Het |
| Hoxa1 |
G |
T |
6: 52,134,973 (GRCm39) |
Q77K |
probably benign |
Het |
| Ighv14-2 |
A |
G |
12: 113,958,512 (GRCm39) |
C3R |
probably benign |
Het |
| Itgb2 |
G |
A |
10: 77,397,050 (GRCm39) |
|
probably null |
Het |
| Mrpl24 |
A |
C |
3: 87,829,719 (GRCm39) |
K102Q |
probably benign |
Het |
| Ogfod2 |
C |
T |
5: 124,252,591 (GRCm39) |
|
probably benign |
Het |
| Olig2 |
A |
G |
16: 91,023,732 (GRCm39) |
I149V |
probably damaging |
Het |
| Or10g9 |
T |
A |
9: 39,911,616 (GRCm39) |
K302N |
probably benign |
Het |
| Or56a3b |
T |
A |
7: 104,776,227 (GRCm39) |
I84F |
probably damaging |
Het |
| Or7g19 |
T |
A |
9: 18,856,526 (GRCm39) |
I194N |
possibly damaging |
Het |
| Oxr1 |
A |
G |
15: 41,683,915 (GRCm39) |
Q515R |
possibly damaging |
Het |
| Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
| Slc25a12 |
T |
A |
2: 71,105,450 (GRCm39) |
|
probably benign |
Het |
| Slc2a3 |
C |
A |
6: 122,714,063 (GRCm39) |
G157V |
probably damaging |
Het |
| Slc5a4a |
C |
T |
10: 76,013,929 (GRCm39) |
R379* |
probably null |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Sprr2f |
A |
T |
3: 92,273,366 (GRCm39) |
Q55L |
unknown |
Het |
| Srd5a3 |
G |
A |
5: 76,297,798 (GRCm39) |
|
probably null |
Het |
| Tmtc1 |
C |
T |
6: 148,164,280 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ulk4 |
G |
A |
9: 121,092,704 (GRCm39) |
R178* |
probably null |
Het |
| Uspl1 |
A |
G |
5: 149,124,588 (GRCm39) |
T2A |
possibly damaging |
Het |
| Vmn2r87 |
T |
G |
10: 130,308,054 (GRCm39) |
H728P |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,525,194 (GRCm39) |
M284K |
possibly damaging |
Het |
| Zfp101 |
T |
A |
17: 33,601,466 (GRCm39) |
M59L |
possibly damaging |
Het |
| Zfp558 |
T |
C |
9: 18,368,798 (GRCm39) |
E146G |
probably null |
Het |
|
| Other mutations in Tob1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01069:Tob1
|
APN |
11 |
94,104,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02028:Tob1
|
APN |
11 |
94,105,052 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02866:Tob1
|
APN |
11 |
94,104,883 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
FR4304:Tob1
|
UTSW |
11 |
94,105,303 (GRCm39) |
nonsense |
probably null |
|
|
FR4304:Tob1
|
UTSW |
11 |
94,105,290 (GRCm39) |
small insertion |
probably benign |
|
|
FR4340:Tob1
|
UTSW |
11 |
94,105,303 (GRCm39) |
small insertion |
probably benign |
|
|
FR4340:Tob1
|
UTSW |
11 |
94,105,280 (GRCm39) |
small insertion |
probably benign |
|
|
FR4340:Tob1
|
UTSW |
11 |
94,105,286 (GRCm39) |
small insertion |
probably benign |
|
|
FR4342:Tob1
|
UTSW |
11 |
94,105,298 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Tob1
|
UTSW |
11 |
94,105,301 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Tob1
|
UTSW |
11 |
94,105,294 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Tob1
|
UTSW |
11 |
94,105,295 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Tob1
|
UTSW |
11 |
94,105,281 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Tob1
|
UTSW |
11 |
94,105,303 (GRCm39) |
frame shift |
probably null |
|
|
FR4589:Tob1
|
UTSW |
11 |
94,105,277 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Tob1
|
UTSW |
11 |
94,105,304 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Tob1
|
UTSW |
11 |
94,105,277 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Tob1
|
UTSW |
11 |
94,105,290 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Tob1
|
UTSW |
11 |
94,105,298 (GRCm39) |
small insertion |
probably benign |
|
|
R0142:Tob1
|
UTSW |
11 |
94,105,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Tob1
|
UTSW |
11 |
94,104,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4213:Tob1
|
UTSW |
11 |
94,105,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4280:Tob1
|
UTSW |
11 |
94,105,148 (GRCm39) |
missense |
probably benign |
|
|
R4899:Tob1
|
UTSW |
11 |
94,105,278 (GRCm39) |
small deletion |
probably benign |
|
|
R5074:Tob1
|
UTSW |
11 |
94,104,567 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5502:Tob1
|
UTSW |
11 |
94,105,278 (GRCm39) |
small deletion |
probably benign |
|
|
R5828:Tob1
|
UTSW |
11 |
94,104,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5828:Tob1
|
UTSW |
11 |
94,104,585 (GRCm39) |
nonsense |
probably null |
|
|
R7471:Tob1
|
UTSW |
11 |
94,104,708 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7839:Tob1
|
UTSW |
11 |
94,104,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8383:Tob1
|
UTSW |
11 |
94,105,203 (GRCm39) |
small deletion |
probably benign |
|
|
R8491:Tob1
|
UTSW |
11 |
94,105,115 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9131:Tob1
|
UTSW |
11 |
94,105,203 (GRCm39) |
small deletion |
probably benign |
|
|
R9521:Tob1
|
UTSW |
11 |
94,105,205 (GRCm39) |
small deletion |
probably benign |
|
|
R9542:Tob1
|
UTSW |
11 |
94,105,234 (GRCm39) |
missense |
unknown |
|
|
R9729:Tob1
|
UTSW |
11 |
94,104,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9744:Tob1
|
UTSW |
11 |
94,105,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF028:Tob1
|
UTSW |
11 |
94,105,277 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Tob1
|
UTSW |
11 |
94,105,277 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:Tob1
|
UTSW |
11 |
94,105,277 (GRCm39) |
small insertion |
probably benign |
|
|
RF044:Tob1
|
UTSW |
11 |
94,105,287 (GRCm39) |
small insertion |
probably benign |
|
|
RF054:Tob1
|
UTSW |
11 |
94,105,287 (GRCm39) |
small insertion |
probably benign |
|
|
Z1177:Tob1
|
UTSW |
11 |
94,104,818 (GRCm39) |
missense |
probably benign |
0.38 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCTCCGATCAACCTGGG -3'
(R):5'- AAAGACTTCTCGTTGAGGCCTC -3'
Sequencing Primer
(F):5'- TCAACCTGGGCCTGACTGTAAATG -3'
(R):5'- TCTCGTTGAGGCCTCCGTAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation