Incidental Mutation 'R5067:Btbd10'
ID |
388368 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btbd10
|
Ensembl Gene |
ENSMUSG00000038187 |
Gene Name |
BTB domain containing 10 |
Synonyms |
Gmrp1, 1110056N09Rik |
MMRRC Submission |
042657-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.313)
|
Stock # |
R5067 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
112914833-112968599 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 112925043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 268
(D268E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047091]
[ENSMUST00000117577]
[ENSMUST00000119278]
[ENSMUST00000135510]
|
AlphaFold |
Q80X66 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047091
AA Change: D316E
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000048530 Gene: ENSMUSG00000038187 AA Change: D316E
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 |
possibly damaging
Transcript: ENSMUST00000117577
AA Change: D324E
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113496 Gene: ENSMUSG00000038187 AA Change: D324E
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 damaging
Transcript: ENSMUST00000119278
AA Change: D268E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113632 Gene: ENSMUSG00000038187 AA Change: D268E
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 |
0.1032 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
All alleles(12) : Targeted(2) Gene trapped(10)
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak2 |
T |
C |
12: 112,748,936 (GRCm39) |
N304D |
probably benign |
Het |
Akr7a5 |
T |
C |
4: 139,038,333 (GRCm39) |
S90P |
probably damaging |
Het |
Aplnr |
T |
A |
2: 84,967,128 (GRCm39) |
V51E |
probably damaging |
Het |
Arhgap21 |
A |
T |
2: 20,884,848 (GRCm39) |
H776Q |
probably damaging |
Het |
Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
Bsn |
T |
A |
9: 107,989,152 (GRCm39) |
Y2200F |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,616,782 (GRCm39) |
N113D |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,902,628 (GRCm39) |
N175D |
probably benign |
Het |
Cfap61 |
A |
G |
2: 145,943,956 (GRCm39) |
D134G |
probably damaging |
Het |
Clybl |
A |
T |
14: 122,616,701 (GRCm39) |
I239L |
possibly damaging |
Het |
Defb11 |
A |
T |
8: 22,396,352 (GRCm39) |
F15Y |
probably damaging |
Het |
Dlc1 |
A |
G |
8: 37,051,647 (GRCm39) |
S695P |
probably benign |
Het |
Fbxl5 |
T |
C |
5: 43,916,114 (GRCm39) |
K432E |
probably benign |
Het |
Fryl |
T |
C |
5: 73,215,098 (GRCm39) |
E2226G |
probably benign |
Het |
Gm10337 |
T |
A |
15: 102,412,306 (GRCm39) |
|
probably null |
Het |
Gm5828 |
A |
G |
1: 16,839,516 (GRCm39) |
|
noncoding transcript |
Het |
Gm8674 |
A |
T |
13: 50,053,870 (GRCm39) |
|
noncoding transcript |
Het |
Ighv6-5 |
T |
C |
12: 114,380,191 (GRCm39) |
|
probably null |
Het |
Insyn2a |
A |
T |
7: 134,520,284 (GRCm39) |
V82E |
probably benign |
Het |
Ints14 |
C |
A |
9: 64,871,694 (GRCm39) |
L11M |
probably damaging |
Het |
Kcp |
G |
A |
6: 29,492,107 (GRCm39) |
P153L |
probably benign |
Het |
Lrrk2 |
A |
C |
15: 91,649,993 (GRCm39) |
N1710T |
probably benign |
Het |
Marchf10 |
T |
A |
11: 105,280,933 (GRCm39) |
T451S |
possibly damaging |
Het |
Mcf2l |
T |
G |
8: 12,965,959 (GRCm39) |
|
probably benign |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Neurod2 |
T |
A |
11: 98,218,063 (GRCm39) |
H367L |
possibly damaging |
Het |
Nfatc4 |
A |
T |
14: 56,069,875 (GRCm39) |
Q681L |
probably damaging |
Het |
Nkx3-2 |
T |
C |
5: 41,919,220 (GRCm39) |
N256S |
probably damaging |
Het |
Ntng1 |
G |
A |
3: 110,042,661 (GRCm39) |
T55M |
possibly damaging |
Het |
Snd1 |
C |
A |
6: 28,888,239 (GRCm39) |
N891K |
probably damaging |
Het |
Syt7 |
T |
C |
19: 10,420,222 (GRCm39) |
V382A |
possibly damaging |
Het |
Trim72 |
T |
C |
7: 127,609,139 (GRCm39) |
S314P |
possibly damaging |
Het |
Ttc41 |
T |
C |
10: 86,580,408 (GRCm39) |
S785P |
probably damaging |
Het |
Ube2z |
C |
T |
11: 95,953,835 (GRCm39) |
V128I |
probably benign |
Het |
Vps26c |
T |
A |
16: 94,327,263 (GRCm39) |
|
probably benign |
Het |
Wdr43 |
T |
C |
17: 71,933,849 (GRCm39) |
Y149H |
probably benign |
Het |
Wnk4 |
T |
A |
11: 101,153,682 (GRCm39) |
V248E |
probably damaging |
Het |
Zcchc2 |
A |
T |
1: 105,958,694 (GRCm39) |
N1055I |
probably damaging |
Het |
Zdhhc23 |
T |
C |
16: 43,794,134 (GRCm39) |
Y180C |
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 |
|
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 |
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'- AAGAGCTAGTTTGGTCCCTGG -3'
(R):5'- TGTCCATATTTTGCTCAGACTGTG -3'
Sequencing Primer
(F):5'- CTAGTTTGGTCCCTGGGGTAG -3'
(R):5'- GCTTTTATCAGGCATCCAAAAATGTC -3'
|
Posted On |
2016-06-06 |