Incidental Mutation 'IGL02028:Tob1'
ID |
184282 |
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 # |
IGL02028
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
94102280-94106321 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 94105052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 196
(G196D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036039
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041589]
|
AlphaFold |
Q61471 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041589
AA Change: G196D
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000036039 Gene: ENSMUSG00000037573 AA Change: G196D
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi2 |
A |
G |
1: 60,473,442 (GRCm39) |
Y53C |
probably damaging |
Het |
Acacb |
T |
A |
5: 114,304,076 (GRCm39) |
D166E |
probably damaging |
Het |
Akap8l |
T |
C |
17: 32,557,495 (GRCm39) |
|
probably null |
Het |
Arl6ip5 |
A |
G |
6: 97,206,611 (GRCm39) |
Y97C |
probably damaging |
Het |
Atad5 |
T |
A |
11: 80,024,936 (GRCm39) |
S1772R |
probably benign |
Het |
Ccdc106 |
A |
G |
7: 5,062,645 (GRCm39) |
Q155R |
probably damaging |
Het |
Ccdc33 |
T |
C |
9: 57,983,861 (GRCm39) |
N446S |
probably benign |
Het |
Cdh2 |
T |
C |
18: 16,783,477 (GRCm39) |
D84G |
probably benign |
Het |
Cntn6 |
A |
G |
6: 104,836,387 (GRCm39) |
K918E |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,750,122 (GRCm39) |
D521G |
probably damaging |
Het |
Dync2i1 |
C |
A |
12: 116,219,681 (GRCm39) |
R87L |
probably benign |
Het |
Etv6 |
C |
T |
6: 134,225,696 (GRCm39) |
A309V |
probably benign |
Het |
Ezh1 |
G |
T |
11: 101,090,166 (GRCm39) |
H529Q |
probably damaging |
Het |
Figla |
T |
C |
6: 85,994,345 (GRCm39) |
L40P |
probably damaging |
Het |
Gabra4 |
T |
A |
5: 71,790,939 (GRCm39) |
Q301L |
probably damaging |
Het |
Glt1d1 |
G |
A |
5: 127,783,984 (GRCm39) |
V313M |
possibly damaging |
Het |
Gm28778 |
T |
A |
1: 53,357,120 (GRCm39) |
I94K |
possibly damaging |
Het |
Gm4847 |
T |
C |
1: 166,469,765 (GRCm39) |
K103E |
probably benign |
Het |
Gne |
A |
G |
4: 44,066,852 (GRCm39) |
S23P |
probably damaging |
Het |
Hipk2 |
A |
G |
6: 38,795,691 (GRCm39) |
C186R |
possibly damaging |
Het |
Lrp1b |
C |
T |
2: 41,401,464 (GRCm39) |
V283I |
probably damaging |
Het |
Mcm10 |
A |
T |
2: 5,013,511 (GRCm39) |
D40E |
possibly damaging |
Het |
Morc2b |
T |
A |
17: 33,356,387 (GRCm39) |
I462F |
possibly damaging |
Het |
Myh1 |
T |
A |
11: 67,101,441 (GRCm39) |
I711N |
probably damaging |
Het |
Oit3 |
A |
G |
10: 59,274,477 (GRCm39) |
F108L |
probably damaging |
Het |
Or4f4b |
T |
C |
2: 111,313,816 (GRCm39) |
F14L |
probably benign |
Het |
Or8b49 |
T |
A |
9: 38,505,715 (GRCm39) |
L66* |
probably null |
Het |
Polr1g |
T |
C |
7: 19,091,003 (GRCm39) |
K368R |
probably damaging |
Het |
Rbm19 |
A |
G |
5: 120,258,301 (GRCm39) |
D172G |
probably damaging |
Het |
Ribc2 |
A |
G |
15: 85,027,536 (GRCm39) |
D339G |
possibly damaging |
Het |
Rras2 |
C |
A |
7: 113,659,597 (GRCm39) |
V56L |
probably benign |
Het |
Scn2a |
A |
G |
2: 65,594,002 (GRCm39) |
E1617G |
probably damaging |
Het |
Slc13a1 |
T |
A |
6: 24,118,030 (GRCm39) |
M236L |
probably benign |
Het |
Snrnp27 |
C |
T |
6: 86,659,955 (GRCm39) |
R13H |
unknown |
Het |
Srgap2 |
T |
C |
1: 131,224,173 (GRCm39) |
K92E |
probably damaging |
Het |
Suco |
T |
C |
1: 161,684,428 (GRCm39) |
K231E |
possibly damaging |
Het |
Tll2 |
C |
A |
19: 41,087,088 (GRCm39) |
E588* |
probably null |
Het |
Tmem215 |
A |
T |
4: 40,473,940 (GRCm39) |
I6L |
possibly damaging |
Het |
Tnc |
A |
C |
4: 63,884,909 (GRCm39) |
|
probably benign |
Het |
Ubtfl1 |
T |
A |
9: 18,320,849 (GRCm39) |
Y126N |
possibly damaging |
Het |
Uck1 |
G |
T |
2: 32,148,149 (GRCm39) |
Q192K |
probably damaging |
Het |
Vdac3-ps1 |
A |
G |
13: 18,205,469 (GRCm39) |
|
noncoding transcript |
Het |
Vmn1r88 |
C |
T |
7: 12,911,719 (GRCm39) |
S25L |
probably benign |
Het |
Vmn2r109 |
T |
G |
17: 20,761,342 (GRCm39) |
I672L |
probably benign |
Het |
Vmn2r23 |
T |
C |
6: 123,718,819 (GRCm39) |
F724S |
probably damaging |
Het |
Vmn2r54 |
A |
T |
7: 12,366,088 (GRCm39) |
F282Y |
probably damaging |
Het |
Vmn2r82 |
A |
T |
10: 79,215,057 (GRCm39) |
I347F |
probably benign |
Het |
Wasf2 |
G |
A |
4: 132,923,112 (GRCm39) |
R474H |
probably damaging |
Het |
Zmym5 |
T |
C |
14: 57,041,617 (GRCm39) |
H162R |
possibly damaging |
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 |
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 |
2014-05-07 |