Incidental Mutation 'IGL01069:Tob1'
| ID |
52220 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tob1
|
| Ensembl Gene |
ENSMUSG00000037573 |
| Gene Name |
transducer of ErbB-2.1 |
| Synonyms |
Tob, Trob |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01069
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
94102280-94106321 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94104881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 139
(F139S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041589]
|
| AlphaFold |
Q61471 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041589
AA Change: F139S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036039
Gene: ENSMUSG00000037573
AA Change: F139S
| 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 |
|
| 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 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| 1700123K08Rik |
C |
T |
5: 138,560,751 (GRCm39) |
A215T |
probably benign |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Apc2 |
G |
A |
10: 80,147,820 (GRCm39) |
C929Y |
probably damaging |
Het |
| Arap2 |
T |
C |
5: 62,807,199 (GRCm39) |
H1156R |
probably benign |
Het |
| Arhgap9 |
A |
G |
10: 127,164,821 (GRCm39) |
T582A |
probably damaging |
Het |
| Ccdc57 |
T |
A |
11: 120,752,085 (GRCm39) |
H832L |
probably benign |
Het |
| Ces3b |
T |
C |
8: 105,818,206 (GRCm39) |
S92P |
probably benign |
Het |
| Ces5a |
A |
G |
8: 94,252,172 (GRCm39) |
|
probably null |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cpb2 |
T |
A |
14: 75,508,215 (GRCm39) |
D225E |
probably damaging |
Het |
| Cpne8 |
C |
T |
15: 90,499,313 (GRCm39) |
|
probably null |
Het |
| Cux2 |
G |
A |
5: 122,005,414 (GRCm39) |
T924M |
possibly damaging |
Het |
| Dtl |
T |
A |
1: 191,293,651 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
A |
6: 84,176,767 (GRCm39) |
I1912N |
possibly damaging |
Het |
| Edc4 |
T |
A |
8: 106,613,766 (GRCm39) |
F369I |
probably benign |
Het |
| Fibcd1 |
T |
C |
2: 31,711,531 (GRCm39) |
E298G |
probably benign |
Het |
| Focad |
C |
A |
4: 88,244,383 (GRCm39) |
H788N |
unknown |
Het |
| Frem1 |
C |
T |
4: 82,932,104 (GRCm39) |
R199H |
probably benign |
Het |
| Gadl1 |
T |
C |
9: 115,783,907 (GRCm39) |
|
probably null |
Het |
| Hipk1 |
G |
A |
3: 103,685,015 (GRCm39) |
T200I |
possibly damaging |
Het |
| Ighv14-2 |
C |
T |
12: 113,958,379 (GRCm39) |
V21I |
possibly damaging |
Het |
| Kank4 |
A |
T |
4: 98,666,632 (GRCm39) |
I605N |
probably damaging |
Het |
| Krt88 |
T |
G |
15: 101,351,508 (GRCm39) |
*172G |
probably null |
Het |
| Lmf2 |
C |
A |
15: 89,237,091 (GRCm39) |
A408S |
probably benign |
Het |
| Lsm12 |
T |
C |
11: 102,054,896 (GRCm39) |
|
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,075,735 (GRCm39) |
I580V |
probably benign |
Het |
| Myt1 |
T |
C |
2: 181,467,749 (GRCm39) |
M1061T |
probably damaging |
Het |
| Nup133 |
G |
A |
8: 124,657,721 (GRCm39) |
R405* |
probably null |
Het |
| Or1ad1 |
A |
T |
11: 50,875,830 (GRCm39) |
I101F |
possibly damaging |
Het |
| Or5m3 |
A |
G |
2: 85,838,891 (GRCm39) |
Y257C |
probably damaging |
Het |
| Or8g2 |
A |
T |
9: 39,821,902 (GRCm39) |
M268L |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,964,918 (GRCm39) |
R362G |
probably benign |
Het |
| Pomt2 |
G |
T |
12: 87,157,078 (GRCm39) |
T747K |
probably damaging |
Het |
| Rgma |
G |
A |
7: 73,067,239 (GRCm39) |
A165T |
probably damaging |
Het |
| Rhbdf2 |
T |
C |
11: 116,492,577 (GRCm39) |
D437G |
possibly damaging |
Het |
| Rpl5 |
T |
C |
5: 108,055,145 (GRCm39) |
|
probably null |
Het |
| Rtkn2 |
A |
G |
10: 67,877,494 (GRCm39) |
D518G |
probably benign |
Het |
| Sclt1 |
T |
C |
3: 41,696,426 (GRCm39) |
|
probably benign |
Het |
| Sidt2 |
C |
T |
9: 45,854,375 (GRCm39) |
V616I |
possibly damaging |
Het |
| Ska2 |
A |
G |
11: 87,000,091 (GRCm39) |
|
probably benign |
Het |
| Slc13a4 |
C |
A |
6: 35,245,817 (GRCm39) |
L609F |
probably damaging |
Het |
| Sorbs3 |
T |
C |
14: 70,428,604 (GRCm39) |
E390G |
probably damaging |
Het |
| Syt15 |
T |
C |
14: 33,946,881 (GRCm39) |
V220A |
possibly damaging |
Het |
| Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
|
| Other mutations in Tob1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R4537:Tob1
|
UTSW |
11 |
94,105,278 (GRCm39) |
small deletion |
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation