Incidental Mutation 'R5828:Tob1'
ID |
450280 |
Institutional Source |
Beutler Lab
|
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 # |
R5828 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
94102280-94106321 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 94104583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 40
(Y40N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036039
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041589]
|
AlphaFold |
Q61471 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041589
AA Change: Y40N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036039 Gene: ENSMUSG00000037573 AA Change: Y40N
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 |
|
Meta Mutation Damage Score |
0.8730 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (63/63) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
G |
2: 68,432,144 (GRCm39) |
D95G |
unknown |
Het |
Arl10 |
T |
A |
13: 54,726,768 (GRCm39) |
V182E |
probably damaging |
Het |
Cacna1g |
T |
G |
11: 94,347,980 (GRCm39) |
S703R |
probably damaging |
Het |
Ces2a |
C |
A |
8: 105,465,956 (GRCm39) |
T363N |
probably benign |
Het |
Col14a1 |
G |
A |
15: 55,300,372 (GRCm39) |
V967I |
unknown |
Het |
Col22a1 |
A |
T |
15: 71,881,340 (GRCm39) |
F4I |
probably benign |
Het |
D630045J12Rik |
A |
G |
6: 38,173,302 (GRCm39) |
W289R |
possibly damaging |
Het |
Disc1 |
A |
G |
8: 125,977,763 (GRCm39) |
Q793R |
probably damaging |
Het |
Dnhd1 |
C |
T |
7: 105,369,388 (GRCm39) |
T4337I |
probably benign |
Het |
Eif2b5 |
T |
A |
16: 20,321,536 (GRCm39) |
V363D |
possibly damaging |
Het |
Emsy |
T |
C |
7: 98,242,699 (GRCm39) |
T1147A |
probably benign |
Het |
Epg5 |
T |
A |
18: 78,064,066 (GRCm39) |
Y2048N |
probably damaging |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Foxred1 |
A |
G |
9: 35,121,492 (GRCm39) |
|
probably benign |
Het |
Gpaa1 |
T |
C |
15: 76,216,471 (GRCm39) |
|
probably benign |
Het |
Gria4 |
A |
C |
9: 4,432,832 (GRCm39) |
L784V |
probably damaging |
Het |
Homer3 |
A |
G |
8: 70,738,956 (GRCm39) |
Y105C |
probably benign |
Het |
Hpgd |
T |
C |
8: 56,772,106 (GRCm39) |
S193P |
probably benign |
Het |
Irf1 |
T |
A |
11: 53,666,762 (GRCm39) |
W247R |
probably benign |
Het |
Lpgat1 |
A |
G |
1: 191,508,494 (GRCm39) |
Q344R |
possibly damaging |
Het |
Luzp1 |
T |
C |
4: 136,267,993 (GRCm39) |
V72A |
probably damaging |
Het |
Malrd1 |
G |
A |
2: 15,531,464 (GRCm39) |
V8M |
probably benign |
Het |
Msmo1 |
T |
C |
8: 65,172,144 (GRCm39) |
H253R |
probably damaging |
Het |
Nom1 |
A |
G |
5: 29,640,124 (GRCm39) |
K150R |
possibly damaging |
Het |
Onecut1 |
A |
G |
9: 74,770,042 (GRCm39) |
E155G |
probably benign |
Het |
Or12k7 |
A |
G |
2: 36,959,001 (GRCm39) |
H228R |
probably benign |
Het |
Or14c46 |
T |
A |
7: 85,918,728 (GRCm39) |
M90L |
probably benign |
Het |
Or5p59 |
T |
C |
7: 107,703,005 (GRCm39) |
V163A |
possibly damaging |
Het |
Osbpl10 |
G |
A |
9: 114,890,944 (GRCm39) |
V111M |
probably damaging |
Het |
Pcdhgb6 |
T |
C |
18: 37,877,457 (GRCm39) |
S722P |
probably benign |
Het |
Plin4 |
T |
A |
17: 56,414,064 (GRCm39) |
D187V |
probably damaging |
Het |
Pmf1 |
T |
C |
3: 88,303,294 (GRCm39) |
E89G |
possibly damaging |
Het |
Polr1d |
A |
T |
5: 147,014,408 (GRCm39) |
|
probably benign |
Het |
Ppp1r9a |
T |
C |
6: 5,158,200 (GRCm39) |
Y1006H |
probably damaging |
Het |
Ppp2r5c |
A |
G |
12: 110,537,134 (GRCm39) |
K420E |
probably benign |
Het |
Prdx1 |
T |
C |
4: 116,551,006 (GRCm39) |
L159P |
probably damaging |
Het |
Psmd6 |
G |
T |
14: 14,119,990 (GRCm38) |
D39E |
probably benign |
Het |
Rffl |
T |
C |
11: 82,709,244 (GRCm39) |
K60E |
probably damaging |
Het |
Rspo2 |
A |
T |
15: 42,939,283 (GRCm39) |
L169Q |
probably damaging |
Het |
Sbf1 |
T |
A |
15: 89,172,837 (GRCm39) |
D1892V |
probably damaging |
Het |
Sbno2 |
G |
A |
10: 79,902,424 (GRCm39) |
S475F |
possibly damaging |
Het |
Serpina3i |
T |
A |
12: 104,231,474 (GRCm39) |
V37E |
probably benign |
Het |
Siglecf |
G |
A |
7: 43,001,137 (GRCm39) |
C35Y |
probably damaging |
Het |
Slc22a27 |
G |
T |
19: 7,903,767 (GRCm39) |
D123E |
probably damaging |
Het |
Smim23 |
T |
A |
11: 32,770,592 (GRCm39) |
K105* |
probably null |
Het |
Soat1 |
C |
T |
1: 156,265,318 (GRCm39) |
S348N |
probably benign |
Het |
Sp2 |
C |
T |
11: 96,851,811 (GRCm39) |
|
probably benign |
Het |
St14 |
T |
A |
9: 31,002,803 (GRCm39) |
H700L |
probably damaging |
Het |
St3gal1 |
T |
A |
15: 66,985,634 (GRCm39) |
K7* |
probably null |
Het |
Tgm1 |
T |
C |
14: 55,943,011 (GRCm39) |
K610E |
probably benign |
Het |
Trpc4ap |
A |
G |
2: 155,477,130 (GRCm39) |
|
probably benign |
Het |
Ttc9 |
C |
T |
12: 81,678,450 (GRCm39) |
P91L |
probably benign |
Het |
Zbtb18 |
T |
C |
1: 177,275,446 (GRCm39) |
S269P |
probably damaging |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
Zfyve16 |
A |
T |
13: 92,650,410 (GRCm39) |
V858E |
probably 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 |
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 |
94,105,277 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Tob1
|
UTSW |
11 |
94,105,290 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Tob1
|
UTSW |
11 |
94,105,304 (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 |
94,104,585 (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'- GAATTTGTTTCTCTGCCACAAACTG -3'
(R):5'- TCGCCGATCTGGTAGGAAAC -3'
Sequencing Primer
(F):5'- tCTGGTGGAGGAGTTGAA -3'
(R):5'- TAGGAAACCTCAAACGGGTCGATC -3'
|
Posted On |
2016-12-20 |