Incidental Mutation 'RF054:Tob1'
| ID |
605211 |
| 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 # |
RF054 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94102280-94106321 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
GCA to GCACCA
at 94105287 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: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
CGGC |
CGGCGGAGGC |
18: 36,693,982 (GRCm39) |
|
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cep131 |
CTGTTGTT |
CTGTTGTTGTT |
11: 119,963,794 (GRCm39) |
|
probably benign |
Het |
| Chga |
AGC |
AGCTGC |
12: 102,527,682 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
GAAGTGGTGGAAGTGGTGG |
GAAGTGGTGGAAGTGGTGGAAGTGGTGTAAGTGGTGGAAGTGGTGG |
7: 30,466,613 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
CCTCGTT |
CCTCGTTTTGGGGGCGGAGCACAGTTCCTAGCTCGTT |
9: 20,821,435 (GRCm39) |
|
probably null |
Het |
| Epha8 |
CCTGGGC |
CC |
4: 136,660,348 (GRCm39) |
|
probably benign |
Het |
| F830016B08Rik |
AAAAAA |
AAAAAAAAA |
18: 60,433,010 (GRCm39) |
|
probably benign |
Het |
| Gabre |
TCAGGCTCAGGCT |
TCAGGCTCAGGCTCAGGCT |
X: 71,314,022 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
GTGT |
GTGTCTGT |
19: 11,489,128 (GRCm39) |
|
probably null |
Het |
| Irag2 |
ATTG |
ATTGAGCACTTTG |
6: 145,119,514 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
CAC |
CACCGCTGCGGCGAC |
3: 92,925,605 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
TC |
TCGCCTCTGTTACCCCACAAATCACCAACACCTCCCCC |
11: 58,281,077 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGACT |
GGGACTGGGCCTCACCTGCGGACT |
11: 4,891,048 (GRCm39) |
|
probably benign |
Het |
| Prp2 |
CTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCT |
C |
6: 132,577,484 (GRCm39) |
|
probably null |
Het |
| Rassf6 |
TCACTCATGGTCCTGTAGAGCAATGGGGATTC |
TCACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCCCACTCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,770 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
CAATGGGGATTC |
CAATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGAAATGGGGATTC |
5: 90,756,790 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
TGTAGAGCAATGGGGATTC |
TGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCAGTAGAGCAATGGGGATTC |
5: 90,756,783 (GRCm39) |
|
probably benign |
Het |
| Sbp |
GATGCTGACAACAAA |
GATGCTGACAACAAATATGCTGACAACAAA |
17: 24,164,345 (GRCm39) |
|
probably benign |
Het |
| Six3 |
GCG |
GCGCCG |
17: 85,928,783 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
CAG |
CAGTAG |
17: 48,097,023 (GRCm39) |
|
probably null |
Het |
| Thbs1 |
TGACCTTAG |
TG |
2: 117,953,346 (GRCm39) |
|
probably benign |
Het |
| Ubqln3 |
AACAC |
A |
7: 103,790,385 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
AACAGCAGC |
AACAGCAGCCACAGCAGC |
8: 109,682,728 (GRCm39) |
|
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 |
|
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 |
|
|
Z1177:Tob1
|
UTSW |
11 |
94,104,818 (GRCm39) |
missense |
probably benign |
0.38 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCTCCGATCAACCTGGG -3'
(R):5'- AAGACTTCTCGTTGAGGCCTC -3'
Sequencing Primer
(F):5'- TCAACCTGGGCCTGACTGTAAATG -3'
(R):5'- TCTCGTTGAGGCCTCCGTAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation