Incidental Mutation 'R5667:Btbd10'
ID |
444475 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btbd10
|
Ensembl Gene |
ENSMUSG00000038187 |
Gene Name |
BTB domain containing 10 |
Synonyms |
Gmrp1, 1110056N09Rik |
MMRRC Submission |
043310-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
R5667 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
112914833-112968599 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112931931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 165
(K165R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113496
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047091]
[ENSMUST00000117577]
[ENSMUST00000119278]
[ENSMUST00000135510]
|
AlphaFold |
Q80X66 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047091
AA Change: K157R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048530 Gene: ENSMUSG00000038187 AA Change: K157R
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 damaging
Transcript: ENSMUST00000117577
AA Change: K165R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113496 Gene: ENSMUSG00000038187 AA Change: K165R
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 damaging
Transcript: ENSMUST00000119278
AA Change: K109R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113632 Gene: ENSMUSG00000038187 AA Change: K109R
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 damaging
Transcript: ENSMUST00000135510
AA Change: K157R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000114806 Gene: ENSMUSG00000038187 AA Change: K157R
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 |
0.0920 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
96% (54/56) |
Allele List at MGI |
All alleles(12) : Targeted(2) Gene trapped(10)
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
Adamts16 |
A |
T |
13: 70,984,494 (GRCm39) |
Y56* |
probably null |
Het |
Ak2 |
T |
A |
4: 128,902,040 (GRCm39) |
F238I |
probably damaging |
Het |
Akap8l |
T |
C |
17: 32,557,266 (GRCm39) |
Y115C |
probably damaging |
Het |
Alms1 |
A |
G |
6: 85,673,753 (GRCm39) |
D3116G |
probably damaging |
Het |
Arhgap24 |
T |
G |
5: 102,994,037 (GRCm39) |
|
probably null |
Het |
Arhgap45 |
A |
G |
10: 79,861,310 (GRCm39) |
E491G |
probably damaging |
Het |
Atp8b1 |
C |
T |
18: 64,714,994 (GRCm39) |
C86Y |
probably damaging |
Het |
Atxn1 |
T |
C |
13: 45,710,853 (GRCm39) |
K693R |
probably benign |
Het |
Bltp1 |
A |
T |
3: 36,971,826 (GRCm39) |
T520S |
probably benign |
Het |
Capn11 |
C |
T |
17: 45,950,600 (GRCm39) |
R293Q |
possibly damaging |
Het |
Chordc1 |
T |
G |
9: 18,206,628 (GRCm39) |
F33V |
probably damaging |
Het |
Clca4b |
G |
A |
3: 144,627,624 (GRCm39) |
T449I |
probably benign |
Het |
Clip4 |
A |
C |
17: 72,096,878 (GRCm39) |
M1L |
probably damaging |
Het |
Cyfip1 |
C |
T |
7: 55,523,478 (GRCm39) |
T90I |
probably benign |
Het |
Cyp4v3 |
G |
T |
8: 45,761,572 (GRCm39) |
T417K |
possibly damaging |
Het |
Exoc3l4 |
T |
C |
12: 111,389,851 (GRCm39) |
I142T |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,890,843 (GRCm38) |
I575N |
probably benign |
Het |
Foxa1 |
A |
T |
12: 57,589,081 (GRCm39) |
S380T |
probably benign |
Het |
Foxi2 |
A |
T |
7: 135,012,668 (GRCm39) |
|
probably null |
Het |
Gad1-ps |
A |
T |
10: 99,280,395 (GRCm39) |
|
noncoding transcript |
Het |
Gpa33 |
A |
G |
1: 165,974,360 (GRCm39) |
T66A |
possibly damaging |
Het |
Gpr45 |
A |
G |
1: 43,072,218 (GRCm39) |
Y287C |
probably damaging |
Het |
H2-Eb1 |
C |
A |
17: 34,533,229 (GRCm39) |
Y150* |
probably null |
Het |
Hsd17b8 |
T |
C |
17: 34,245,435 (GRCm39) |
D233G |
probably null |
Het |
Ifna6 |
A |
T |
4: 88,745,906 (GRCm39) |
Q85L |
probably damaging |
Het |
Ivns1abp |
G |
T |
1: 151,229,760 (GRCm39) |
L149F |
probably benign |
Het |
Kank4 |
A |
G |
4: 98,653,698 (GRCm39) |
|
probably null |
Het |
Katnip |
T |
A |
7: 125,442,627 (GRCm39) |
|
probably null |
Het |
Lama2 |
A |
T |
10: 27,066,540 (GRCm39) |
C1114S |
probably damaging |
Het |
Lmbr1l |
A |
C |
15: 98,805,489 (GRCm39) |
D337E |
possibly damaging |
Het |
Lrrn3 |
A |
C |
12: 41,502,297 (GRCm39) |
S673R |
possibly damaging |
Het |
Ly75 |
T |
C |
2: 60,138,655 (GRCm39) |
D1404G |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,575,011 (GRCm39) |
T1199A |
probably benign |
Het |
Mycn |
A |
T |
12: 12,990,045 (GRCm39) |
M117K |
possibly damaging |
Het |
Nalcn |
A |
G |
14: 123,532,818 (GRCm39) |
I1314T |
probably damaging |
Het |
Nod1 |
T |
C |
6: 54,910,561 (GRCm39) |
T869A |
probably benign |
Het |
Or2y16 |
T |
C |
11: 49,335,140 (GRCm39) |
V154A |
probably benign |
Het |
Or4k39 |
C |
T |
2: 111,238,818 (GRCm39) |
|
noncoding transcript |
Het |
Plekhg2 |
A |
T |
7: 28,067,064 (GRCm39) |
I356N |
probably damaging |
Het |
Ptpru |
T |
A |
4: 131,547,501 (GRCm39) |
Y112F |
possibly damaging |
Het |
Rpl36al |
G |
A |
12: 69,229,897 (GRCm39) |
P5L |
possibly damaging |
Het |
Ryr2 |
A |
G |
13: 11,774,722 (GRCm39) |
W1145R |
probably damaging |
Het |
Semp2l2b |
T |
A |
10: 21,942,742 (GRCm39) |
T413S |
possibly damaging |
Het |
Slc11a2 |
A |
G |
15: 100,301,169 (GRCm39) |
Y295H |
probably damaging |
Het |
Slc22a6 |
A |
G |
19: 8,599,148 (GRCm39) |
|
probably null |
Het |
Styxl1 |
A |
G |
5: 135,785,977 (GRCm39) |
|
probably null |
Het |
Tmc6 |
A |
G |
11: 117,666,441 (GRCm39) |
S288P |
possibly damaging |
Het |
Trpv4 |
A |
G |
5: 114,772,617 (GRCm39) |
L371P |
probably damaging |
Het |
Uqcc4 |
G |
A |
17: 25,403,963 (GRCm39) |
S101N |
probably damaging |
Het |
Usp8 |
A |
G |
2: 126,584,345 (GRCm39) |
D518G |
probably benign |
Het |
Washc4 |
T |
C |
10: 83,405,892 (GRCm39) |
S463P |
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 |
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 |
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'- AGGTACTGCAAAAGATCATTCAAA -3'
(R):5'- TCAGACATTTTAGAAGATTCAGTTCTC -3'
Sequencing Primer
(F):5'- ACCAAATTTAATGTTGGCTCTACCC -3'
(R):5'- CTGGAACTTGCTCTGTAGACCAG -3'
|
Posted On |
2016-11-09 |