Incidental Mutation 'IGL02866:Tob1'
| ID |
362348 |
| 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 # |
IGL02866
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
94102280-94106321 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94104883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 140
(M140L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041589]
|
| AlphaFold |
Q61471 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041589
AA Change: M140L
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000036039
Gene: ENSMUSG00000037573
AA Change: M140L
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
T |
18: 59,181,914 (GRCm39) |
M1118L |
possibly damaging |
Het |
| Ckmt2 |
A |
T |
13: 92,006,400 (GRCm39) |
L315* |
probably null |
Het |
| Dusp28 |
T |
A |
1: 92,835,378 (GRCm39) |
I154N |
probably benign |
Het |
| Ect2l |
A |
T |
10: 18,035,565 (GRCm39) |
I420N |
probably damaging |
Het |
| Erap1 |
C |
A |
13: 74,816,118 (GRCm39) |
N82K |
probably damaging |
Het |
| Gsdma3 |
A |
G |
11: 98,520,585 (GRCm39) |
D72G |
possibly damaging |
Het |
| Hectd1 |
T |
A |
12: 51,837,396 (GRCm39) |
S720C |
probably damaging |
Het |
| Jakmip2 |
T |
G |
18: 43,685,266 (GRCm39) |
E674A |
probably benign |
Het |
| Kcnt2 |
T |
C |
1: 140,352,986 (GRCm39) |
S232P |
probably damaging |
Het |
| Kmo |
T |
C |
1: 175,481,154 (GRCm39) |
S291P |
probably damaging |
Het |
| Kpnb1 |
A |
G |
11: 97,068,112 (GRCm39) |
V286A |
probably damaging |
Het |
| Ldah |
T |
A |
12: 8,288,602 (GRCm39) |
V83D |
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,817,914 (GRCm39) |
I274F |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,367,428 (GRCm39) |
I988T |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,979,849 (GRCm39) |
E596G |
probably benign |
Het |
| Ndufs1 |
T |
C |
1: 63,186,300 (GRCm39) |
I52V |
probably benign |
Het |
| Nhsl1 |
G |
T |
10: 18,403,355 (GRCm39) |
D1363Y |
probably damaging |
Het |
| Or14c41 |
T |
A |
7: 86,234,901 (GRCm39) |
C139* |
probably null |
Het |
| Or51f1e |
C |
A |
7: 102,747,590 (GRCm39) |
T214K |
probably damaging |
Het |
| Or5b98 |
A |
G |
19: 12,931,719 (GRCm39) |
I255M |
possibly damaging |
Het |
| Or6c66 |
A |
C |
10: 129,461,575 (GRCm39) |
Y118* |
probably null |
Het |
| Pcdhb19 |
T |
C |
18: 37,632,163 (GRCm39) |
S653P |
possibly damaging |
Het |
| Plcb3 |
A |
G |
19: 6,935,044 (GRCm39) |
L869P |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,649,191 (GRCm39) |
F3722I |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 75,968,674 (GRCm39) |
K206R |
probably damaging |
Het |
| Pwwp3b |
T |
C |
X: 138,135,753 (GRCm39) |
V97A |
probably benign |
Het |
| Robo3 |
C |
A |
9: 37,333,602 (GRCm39) |
R703L |
possibly damaging |
Het |
| Ubc |
A |
T |
5: 125,464,486 (GRCm39) |
D280E |
probably benign |
Het |
| Wasf3 |
C |
A |
5: 146,405,131 (GRCm39) |
Q364K |
probably benign |
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 |
|
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 |
2015-12-18 |
Incidental Mutation