Incidental Mutation 'I1329:Btbd10'
| ID |
26503 |
| 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 # |
I1329 (G1)
of strain
toku
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
7 |
| Chromosomal Location |
112914833-112968599 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112932082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 115
(S115P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047091]
[ENSMUST00000117577]
[ENSMUST00000119278]
[ENSMUST00000135510]
|
| AlphaFold |
Q80X66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047091
AA Change: S107P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048530
Gene: ENSMUSG00000038187
AA Change: S107P
| 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: S115P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113496
Gene: ENSMUSG00000038187
AA Change: S115P
| 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: S59P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113632
Gene: ENSMUSG00000038187
AA Change: S59P
| 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: S107P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114806
Gene: ENSMUSG00000038187
AA Change: S107P
| 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 |
0.0728 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 95.2%
|
| Validation Efficiency |
89% (42/47) |
| Allele List at MGI |
All alleles(12) : Targeted(2) Gene trapped(10)
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
T |
C |
2: 26,863,631 (GRCm39) |
I28T |
possibly damaging |
Het |
| Agbl4 |
T |
A |
4: 110,335,652 (GRCm39) |
|
probably benign |
Het |
| Aspscr1 |
G |
C |
11: 120,592,066 (GRCm39) |
V268L |
probably damaging |
Het |
| Cercam |
T |
A |
2: 29,761,097 (GRCm39) |
V132E |
probably damaging |
Het |
| Decr1 |
G |
A |
4: 15,930,976 (GRCm39) |
R119* |
probably null |
Het |
| Dlst |
T |
C |
12: 85,170,615 (GRCm39) |
M248T |
probably damaging |
Het |
| Erbb3 |
T |
C |
10: 128,419,323 (GRCm39) |
N215S |
possibly damaging |
Het |
| Flnc |
G |
A |
6: 29,451,414 (GRCm39) |
V1543M |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,944,619 (GRCm39) |
S542P |
probably benign |
Het |
| Gk5 |
GCC |
GC |
9: 96,022,682 (GRCm39) |
|
probably null |
Het |
| Glrb |
T |
A |
3: 80,769,381 (GRCm39) |
R115S |
probably damaging |
Het |
| Gm5592 |
T |
A |
7: 40,935,778 (GRCm39) |
Y93* |
probably null |
Het |
| Gpr20 |
C |
T |
15: 73,567,612 (GRCm39) |
R259H |
probably damaging |
Het |
| Il1rap |
A |
G |
16: 26,511,600 (GRCm39) |
T215A |
probably benign |
Het |
| Ipmk |
T |
C |
10: 71,217,277 (GRCm39) |
C275R |
possibly damaging |
Het |
| Lats1 |
A |
G |
10: 7,588,566 (GRCm39) |
N1061S |
probably benign |
Het |
| Nkain3 |
A |
G |
4: 20,158,329 (GRCm39) |
|
probably benign |
Het |
| Nr1h4 |
A |
G |
10: 89,319,224 (GRCm39) |
|
probably benign |
Het |
| Nr4a3 |
A |
G |
4: 48,051,585 (GRCm39) |
Q142R |
probably benign |
Het |
| Otog |
G |
A |
7: 45,895,927 (GRCm39) |
V131I |
probably benign |
Het |
| Parp12 |
A |
T |
6: 39,064,505 (GRCm39) |
M627K |
probably damaging |
Het |
| Pcdh9 |
A |
G |
14: 94,123,645 (GRCm39) |
S842P |
probably benign |
Het |
| Phc2 |
G |
C |
4: 128,604,906 (GRCm39) |
G214A |
probably damaging |
Het |
| Prpf40a |
C |
A |
2: 53,066,407 (GRCm39) |
V92L |
probably benign |
Het |
| Qser1 |
A |
T |
2: 104,617,322 (GRCm39) |
Y1163* |
probably null |
Het |
| Rpe65 |
A |
G |
3: 159,330,360 (GRCm39) |
D509G |
probably benign |
Het |
| Scin |
T |
A |
12: 40,123,329 (GRCm39) |
N518I |
probably damaging |
Het |
| Sfswap |
G |
T |
5: 129,584,201 (GRCm39) |
|
probably benign |
Het |
| Tfpi |
A |
T |
2: 84,274,460 (GRCm39) |
N182K |
possibly damaging |
Het |
| Tph1 |
A |
G |
7: 46,299,437 (GRCm39) |
L368P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,571,916 (GRCm39) |
T26326A |
possibly damaging |
Het |
| Ubr1 |
G |
A |
2: 120,764,775 (GRCm39) |
|
probably benign |
Het |
| Usf3 |
G |
T |
16: 44,040,893 (GRCm39) |
C1791F |
probably damaging |
Het |
| Vmn1r16 |
T |
G |
6: 57,300,519 (GRCm39) |
R34S |
probably damaging |
Het |
| Ylpm1 |
C |
A |
12: 85,087,654 (GRCm39) |
P1604Q |
probably damaging |
Het |
| Zc3h12a |
A |
G |
4: 125,013,157 (GRCm39) |
V569A |
possibly damaging |
Het |
| Zmynd8 |
A |
G |
2: 165,670,145 (GRCm39) |
F488S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCACTCGCTCAGATGTCCTCAC -3'
(R):5'- TGGCTGGGTCAACATCAATTAGCTTG -3'
Sequencing Primer
(F):5'- AGATGTCCTCACATTCCGAGC -3'
(R):5'- cctggttgtcctggaacttg -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation