Incidental Mutation 'R2916:Btbd10'
| ID |
254882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btbd10
|
| Ensembl Gene |
ENSMUSG00000038187 |
| Gene Name |
BTB domain containing 10 |
| Synonyms |
Gmrp1, 1110056N09Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.318)
|
| Stock # |
R2916 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
112914833-112968599 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112932031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 124
(M124V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047091]
[ENSMUST00000117577]
[ENSMUST00000119278]
[ENSMUST00000135510]
|
| AlphaFold |
Q80X66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047091
AA Change: M124V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048530
Gene: ENSMUSG00000038187
AA Change: M124V
| 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 benign
Transcript: ENSMUST00000117577
AA Change: M132V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113496
Gene: ENSMUSG00000038187
AA Change: M132V
| 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 |
probably benign
Transcript: ENSMUST00000119278
AA Change: M76V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113632
Gene: ENSMUSG00000038187
AA Change: M76V
| 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
AA Change: M124V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114806
Gene: ENSMUSG00000038187
AA Change: M124V
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(12) : Targeted(2) Gene trapped(10)
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa13 |
T |
C |
15: 58,208,476 (GRCm39) |
|
noncoding transcript |
Het |
| Brd7 |
A |
G |
8: 89,069,408 (GRCm39) |
I429T |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,411,256 (GRCm39) |
D468G |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,134,071 (GRCm39) |
F404S |
probably damaging |
Het |
| Hcn3 |
A |
G |
3: 89,054,920 (GRCm39) |
S776P |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Il17re |
G |
A |
6: 113,442,989 (GRCm39) |
|
probably null |
Het |
| Mug2 |
A |
G |
6: 122,051,683 (GRCm39) |
|
probably null |
Het |
| Nudt9 |
C |
A |
5: 104,203,424 (GRCm39) |
A121E |
probably damaging |
Het |
| Or2aa1 |
T |
C |
11: 59,480,265 (GRCm39) |
T217A |
probably benign |
Het |
| Pdcd11 |
AGAGGAGGAGGAGGAGGAGGAGGAG |
AGAGGAGGAGGAGGAGGAGGAG |
19: 47,101,876 (GRCm39) |
|
probably benign |
Het |
| Pkdcc |
G |
C |
17: 83,523,378 (GRCm39) |
A162P |
probably benign |
Het |
| Rassf4 |
A |
G |
6: 116,618,701 (GRCm39) |
V194A |
probably damaging |
Het |
| Rps24 |
T |
C |
14: 24,542,009 (GRCm39) |
V23A |
probably benign |
Het |
| Six3 |
A |
T |
17: 85,929,061 (GRCm39) |
I132F |
probably benign |
Het |
| Srsf12 |
C |
T |
4: 33,231,042 (GRCm39) |
R179* |
probably null |
Het |
| Zbtb14 |
C |
T |
17: 69,695,214 (GRCm39) |
P304L |
probably damaging |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGGTCCACAACAAATCTGG -3'
(R):5'- GCTGGGTCAACATCAATTAGC -3'
Sequencing Primer
(F):5'- GGTGTTATCCACTATCAGAGTCAC -3'
(R):5'- CTGGAACTTGCTCTGTAGACCAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation