Incidental Mutation 'RF041:Tob1'
| ID |
604830 |
| 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 # |
RF041 (G1)
|
| Quality Score |
160.468 |
|
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) |
CACA to CACAACA
at 94105277 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: 99.4%
- 20x: 98.7%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
TGAGGA |
TGA |
12: 72,928,050 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
CCAGCAAAAACAGAAAGGAAAAGG |
CCAGCAAAAACAGAAAGGAAAAGGAGGCCAGCAAAAACAGAAAGGAAAAGG |
6: 131,529,836 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AGGTGGCCAG |
AGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,857 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AAAGGTGGC |
AAAGGTGGCAAGCAAAAACAGAAAGGAGAAGGTGGC |
6: 131,529,855 (GRCm39) |
|
probably benign |
Het |
| Abcf1 |
CTCTTC |
CTC |
17: 36,274,093 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
GGCTGC |
GGCTGCGGCATCCTGTGCTGC |
4: 155,989,557 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
GGC |
GGCTGC |
19: 5,475,257 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
CGG |
CGGTGG |
17: 5,045,870 (GRCm39) |
|
probably benign |
Het |
| AY761185 |
CACTGTGGG |
C |
8: 21,433,928 (GRCm39) |
|
probably null |
Het |
| Btnl1 |
C |
T |
17: 34,600,342 (GRCm39) |
T246M |
probably benign |
Het |
| Cdc40 |
C |
T |
10: 40,719,119 (GRCm39) |
D337N |
probably damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
CCT |
CCTACT |
17: 46,811,780 (GRCm39) |
|
probably null |
Het |
| Defb22 |
GCTGGCCTTTGC |
GCTGGCCTTTGCCGCAGACCTGGCCTTTGC |
2: 152,327,743 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
GGGGTGGAAG |
GGGGTGGAAGGGGTGGAAGTGGTGGAAGGGGTGGAAG |
7: 30,466,598 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
CTCACCCACTCCTGGTGT |
CTCACCCACTCCTGGTGTGGGGAGGCTACGTAATCACCCACTCCTGGTGT |
17: 23,981,135 (GRCm39) |
|
probably null |
Het |
| Flywch1 |
GT |
GTGGGGAGGCTACGTACTCACCCACTCCTGGTTT |
17: 23,981,151 (GRCm39) |
|
probably null |
Het |
| Gabre |
CTCCGG |
CTCCGGATCCGG |
X: 71,313,655 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,489,122 (GRCm39) |
|
probably benign |
Het |
| Gykl1 |
G |
A |
18: 52,827,488 (GRCm39) |
R232Q |
probably benign |
Het |
| Il2 |
GG |
GGGCTTGAAGTGCG |
3: 37,179,991 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
CTTTTCCTTTT |
CTTTTCCTTTTCCTTTTCCTTTTCCTTTTACTTTTCATTTTCCTTTT |
9: 106,447,812 (GRCm39) |
|
probably null |
Het |
| Kif12 |
GGC |
GGCCTCCACCCGGCGTGC |
4: 63,089,662 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
TG |
TGTTGCAG |
5: 25,520,773 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
CTGCTGCTGCC |
CTGCTGCTGCCCTTGCTGCTGCC |
3: 92,925,448 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,432 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,435 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCTGC |
3: 59,183,406 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GC |
GCACC |
3: 59,183,416 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CCTCACCTGGGG |
CCTCACCTGGGGCCTTGGGCTCACCTGGGG |
11: 4,891,039 (GRCm39) |
|
probably benign |
Het |
| Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
| Ngfr |
CAGG |
C |
11: 95,478,337 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
GAGA |
GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA |
2: 119,458,088 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
GATACACGTTAGCAGTGAGGAGCAAGCTGA |
GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA |
2: 119,458,060 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
GTGAGGAGCAAGCTGA |
GTGAGGAGCAAGCTGAAATACACGTTAGCAATGAGGAGCAAGCTGA |
2: 119,458,074 (GRCm39) |
|
probably benign |
Het |
| Phc1 |
TG |
TGCTGCGG |
6: 122,300,559 (GRCm39) |
|
probably benign |
Het |
| Pnma8a |
CAACATC |
CAACATCTCATGATGCACCTGCTTAAACATC |
7: 16,695,369 (GRCm39) |
|
probably null |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
GGTGGTGGT |
GGTGGTGGTCGTGGTGGT |
7: 127,384,504 (GRCm39) |
|
probably benign |
Het |
| Sfr1 |
ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCCCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC |
ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC |
19: 47,721,307 (GRCm39) |
|
probably benign |
Het |
| Slc39a4 |
TGTGGTC |
TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC |
15: 76,499,066 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
AGC |
AGCCCCTGC |
19: 26,608,421 (GRCm39) |
|
probably benign |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AGATCCCCTTGGC |
AGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGCGATCCCCTTGGC |
18: 60,966,644 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
CCCCTTG |
CCCCTTGACTGCTGAGATGGGCACTTTCCCAGAGATGCCCTTG |
18: 60,966,648 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCATCA |
17: 48,097,025 (GRCm39) |
|
probably benign |
Het |
| Tmem59 |
T |
TGTTTGTTG |
4: 107,047,729 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
CTTC |
CTTCTTC |
11: 102,197,771 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG |
AGCCAGAGCCAGAGCCAGGGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG |
4: 43,177,338 (GRCm39) |
|
probably benign |
Het |
| Usp19 |
GTGTGTGTGTGTGTGTGTGTGTGTGT |
GTGTGTGTGTGTGTGTGTGTGTGTGTGT |
9: 108,371,187 (GRCm39) |
|
unknown |
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 |
|
|
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'- ATAGTGGCCGTAGCAGCAAG -3'
(R):5'- AACACATCAAAGGCATTGCTG -3'
Sequencing Primer
(F):5'- TCAACCTGGGCCTGACTGTAAATG -3'
(R):5'- CACATCAAAGGCATTGCTGTACTGG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation