Incidental Mutation 'R0022:Btbd10'
| ID |
15223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btbd10
|
| Ensembl Gene |
ENSMUSG00000038187 |
| Gene Name |
BTB domain containing 10 |
| Synonyms |
Gmrp1, 1110056N09Rik |
| MMRRC Submission |
038317-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.318)
|
| Stock # |
R0022 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
112914833-112968599 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 112924988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 287
(Q287*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047091]
[ENSMUST00000117577]
[ENSMUST00000119278]
[ENSMUST00000135510]
|
| AlphaFold |
Q80X66 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047091
AA Change: Q335*
|
| SMART Domains |
Protein: ENSMUSP00000048530
Gene: ENSMUSG00000038187
AA Change: Q335*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
147 |
N/A |
INTRINSIC |
|
BTB
|
167 |
272 |
1.58e-4 |
SMART |
|
low complexity region
|
311 |
322 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117577
AA Change: Q343*
|
| SMART Domains |
Protein: ENSMUSP00000113496
Gene: ENSMUSG00000038187
AA Change: Q343*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
155 |
N/A |
INTRINSIC |
|
BTB
|
175 |
280 |
1.58e-4 |
SMART |
|
low complexity region
|
319 |
330 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118029
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119278
AA Change: Q287*
|
| SMART Domains |
Protein: ENSMUSP00000113632
Gene: ENSMUSG00000038187
AA Change: Q287*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
99 |
N/A |
INTRINSIC |
|
BTB
|
119 |
224 |
1.58e-4 |
SMART |
|
low complexity region
|
263 |
274 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135510
|
| SMART Domains |
Protein: ENSMUSP00000114806
Gene: ENSMUSG00000038187
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
147 |
N/A |
INTRINSIC |
|
SCOP:d1t1da_
|
167 |
198 |
3e-6 |
SMART |
|
Blast:BTB
|
167 |
200 |
1e-15 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139650
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 82.0%
- 3x: 74.9%
- 10x: 56.1%
- 20x: 37.0%
|
| Validation Efficiency |
97% (90/93) |
| Allele List at MGI |
All alleles(12) : Targeted(2) Gene trapped(10)
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aste1 |
T |
A |
9: 105,273,823 (GRCm39) |
L21* |
probably null |
Het |
| Cd244a |
A |
G |
1: 171,401,330 (GRCm39) |
D48G |
probably benign |
Het |
| Cdc20 |
T |
A |
4: 118,292,686 (GRCm39) |
H354L |
probably damaging |
Het |
| Cdhr3 |
G |
A |
12: 33,132,263 (GRCm39) |
T120I |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,470,312 (GRCm39) |
S433T |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
A |
G |
2: 180,261,549 (GRCm39) |
D613G |
probably damaging |
Het |
| Coro7 |
C |
T |
16: 4,451,168 (GRCm39) |
R507H |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,667,326 (GRCm39) |
R240Q |
probably damaging |
Het |
| Csf1 |
A |
T |
3: 107,661,178 (GRCm39) |
V113E |
probably damaging |
Het |
| Dclre1b |
G |
T |
3: 103,710,464 (GRCm39) |
H482Q |
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,591,503 (GRCm39) |
V220A |
probably damaging |
Het |
| Ggct |
C |
A |
6: 54,962,887 (GRCm39) |
E175* |
probably null |
Het |
| Gm5316 |
T |
C |
6: 122,877,354 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmn |
A |
G |
14: 56,404,382 (GRCm39) |
S152P |
probably damaging |
Het |
| Hoxa7 |
T |
C |
6: 52,194,363 (GRCm39) |
N8S |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,275,903 (GRCm39) |
F630S |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,783,657 (GRCm39) |
N378S |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,888,050 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,671,355 (GRCm39) |
V1194D |
probably damaging |
Het |
| Mc5r |
T |
G |
18: 68,471,853 (GRCm39) |
S71A |
probably benign |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Naa25 |
C |
A |
5: 121,556,039 (GRCm39) |
L276M |
probably damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,052,755 (GRCm39) |
K888T |
possibly damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,888,145 (GRCm39) |
N135K |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,223,545 (GRCm39) |
F346S |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,793 (GRCm39) |
W4086R |
probably damaging |
Het |
| Pmfbp1 |
C |
T |
8: 110,252,039 (GRCm39) |
R395W |
probably damaging |
Het |
| Ppp1ca |
T |
G |
19: 4,244,580 (GRCm39) |
V213G |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rapgef2 |
G |
A |
3: 78,995,207 (GRCm39) |
R814C |
probably damaging |
Het |
| Rnasel |
A |
T |
1: 153,636,521 (GRCm39) |
I634F |
probably damaging |
Het |
| Rnf157 |
A |
T |
11: 116,240,276 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,471,011 (GRCm39) |
S4567P |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Smcr8 |
T |
A |
11: 60,671,185 (GRCm39) |
W778R |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,179,789 (GRCm39) |
L333Q |
probably damaging |
Het |
| Taar1 |
G |
T |
10: 23,796,625 (GRCm39) |
A108S |
probably benign |
Het |
| Tro |
C |
G |
X: 149,430,508 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,791,654 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Btbd10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01087:Btbd10
|
APN |
7 |
112,915,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03223:Btbd10
|
APN |
7 |
112,931,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
beatitude
|
UTSW |
7 |
112,927,626 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Decile
|
UTSW |
7 |
112,931,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pacifist
|
UTSW |
7 |
112,921,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I1329:Btbd10
|
UTSW |
7 |
112,932,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0022:Btbd10
|
UTSW |
7 |
112,924,988 (GRCm39) |
nonsense |
probably null |
|
|
R0136:Btbd10
|
UTSW |
7 |
112,929,085 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0299:Btbd10
|
UTSW |
7 |
112,929,085 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0599:Btbd10
|
UTSW |
7 |
112,934,516 (GRCm39) |
splice site |
probably benign |
|
|
R0657:Btbd10
|
UTSW |
7 |
112,929,085 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1401:Btbd10
|
UTSW |
7 |
112,946,266 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2916:Btbd10
|
UTSW |
7 |
112,932,031 (GRCm39) |
missense |
probably benign |
|
|
R3429:Btbd10
|
UTSW |
7 |
112,951,016 (GRCm39) |
nonsense |
probably null |
|
|
R3430:Btbd10
|
UTSW |
7 |
112,951,016 (GRCm39) |
nonsense |
probably null |
|
|
R4578:Btbd10
|
UTSW |
7 |
112,921,959 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4626:Btbd10
|
UTSW |
7 |
112,927,605 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5067:Btbd10
|
UTSW |
7 |
112,925,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5480:Btbd10
|
UTSW |
7 |
112,915,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5667:Btbd10
|
UTSW |
7 |
112,931,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6468:Btbd10
|
UTSW |
7 |
112,946,266 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6877:Btbd10
|
UTSW |
7 |
112,921,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6952:Btbd10
|
UTSW |
7 |
112,951,150 (GRCm39) |
splice site |
probably null |
|
|
R7059:Btbd10
|
UTSW |
7 |
112,929,129 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8175:Btbd10
|
UTSW |
7 |
112,921,999 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8725:Btbd10
|
UTSW |
7 |
112,927,626 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8727:Btbd10
|
UTSW |
7 |
112,927,626 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8837:Btbd10
|
UTSW |
7 |
112,929,133 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8969:Btbd10
|
UTSW |
7 |
112,925,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9012:Btbd10
|
UTSW |
7 |
112,921,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9020:Btbd10
|
UTSW |
7 |
112,951,057 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9025:Btbd10
|
UTSW |
7 |
112,951,031 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0027:Btbd10
|
UTSW |
7 |
112,915,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Btbd10
|
UTSW |
7 |
112,931,896 (GRCm39) |
missense |
probably benign |
0.27 |
|
| Protein Function and Prediction |
BTBD10 is a BTB/POZ-containing protein. BTB/POZ factors function to regulate chromatin conformation associated with cellular differentiation (1). It has been proposed that BTBD10 functions to regulate transcription (1). BTBD10 binds Akt (2) and BTBD10 overexpression leads to increased phosphorylation of Akt, while knockdown of BTBD10 reduced Akt phosphorylation and enhanced beta cell (in islets of the pancreas) and SOD1-induced neuronal apoptosis (2;3). Studies have shown that, in vitro, BTBD10 binds to protein phosphatase 2A (PP2A) to inhibit PP2A-mediated phosphorylation of Akt (2). Overexpression of BTBD10 also accelerated cell growth via enhanced cell adhesion (2). Knockdown of BTBD10 also decreased high glucose-induced cell proliferation in the pancreas (3).
|
| Expression/Localization |
BTBD10 is ubiquitously expressed, with highest expression in the adult brain, testis, aorta, insulinoma tissues, and small intestine; lowest expression was observed in the heart, lung, liver, kidney, pancreas, spleen, thymus, prostate, ovary and colon (1;3). Although BTBD10 is highly expressed in normal brain, it is down-regulated in glioma tissues (1). Studies have shown that BTBD10 is localized both in the nucleus (1) and in the cytoplasm surrounding the nucleus (2).
|
| References |
1. Chen, J., Xu, J., Ying, K., Cao, G., Hu, G., Wang, L., Luo, C., Lou, M., Mao, Y., Xie, Y., and Lu, Y. (2004) Molecular Cloning and Characterization of a Novel Human BTB Domain-Containing Gene, BTBD10, which is Down-Regulated in Glioma. Gene. 340, 61-69.
2. Nawa, M., Kanekura, K., Hashimoto, Y., Aiso, S., and Matsuoka, M. (2008) A Novel Akt/PKB-Interacting Protein Promotes Cell Adhesion and Inhibits Familial Amyotrophic Lateral Sclerosis-Linked Mutant SOD1-Induced Neuronal Death Via Inhibition of PP2A-Mediated Dephosphorylation of Akt/PKB. Cell Signal. 20, 493-505.
3. Wang, X., Liu, Y., Yang, Z., Zhang, Z., Zhou, W., Ye, Z., Zhang, W., Zhang, S., Yang, Z., Feng, X., Chen, F., and Hu, R. (2011) Glucose Metabolism-Related Protein 1 (GMRP1) Regulates Pancreatic Beta Cell Proliferation and Apoptosis Via Activation of Akt Signalling Pathway in Rats and Mice. Diabetologia. 54, 852-863. |
| Posted On |
2012-12-12 |
| Science Writer |
Anne Murray |
Incidental Mutation