Incidental Mutation 'R2338:Btbd8'
ID |
246620 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btbd8
|
Ensembl Gene |
ENSMUSG00000070632 |
Gene Name |
BTB domain containing 8 |
Synonyms |
EG627196, A830010M20Rik, Gm16115 |
MMRRC Submission |
040324-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.132)
|
Stock # |
R2338 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
107585863-107659073 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107658440 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 1158
(L1158S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098511
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060553]
[ENSMUST00000100951]
[ENSMUST00000112671]
[ENSMUST00000152474]
[ENSMUST00000160160]
[ENSMUST00000211896]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060553
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100951
AA Change: L1158S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000098511 Gene: ENSMUSG00000111375 AA Change: L1158S
Domain | Start | End | E-Value | Type |
low complexity region
|
340 |
353 |
N/A |
INTRINSIC |
low complexity region
|
698 |
709 |
N/A |
INTRINSIC |
low complexity region
|
946 |
957 |
N/A |
INTRINSIC |
Pfam:DUF4596
|
1195 |
1239 |
2.6e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112671
|
SMART Domains |
Protein: ENSMUSP00000108290 Gene: ENSMUSG00000111375
Domain | Start | End | E-Value | Type |
low complexity region
|
340 |
353 |
N/A |
INTRINSIC |
low complexity region
|
698 |
709 |
N/A |
INTRINSIC |
low complexity region
|
946 |
957 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133800
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143074
|
SMART Domains |
Protein: ENSMUSP00000122032 Gene: ENSMUSG00000106631
Domain | Start | End | E-Value | Type |
low complexity region
|
116 |
127 |
N/A |
INTRINSIC |
low complexity region
|
364 |
375 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152474
|
SMART Domains |
Protein: ENSMUSP00000114881 Gene: ENSMUSG00000111375
Domain | Start | End | E-Value | Type |
low complexity region
|
339 |
352 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160160
|
SMART Domains |
Protein: ENSMUSP00000124398 Gene: ENSMUSG00000106631
Domain | Start | End | E-Value | Type |
Pfam:DUF4580
|
10 |
140 |
1.5e-61 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211896
AA Change: L1670S
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
Meta Mutation Damage Score |
0.1526 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.5%
|
Validation Efficiency |
98% (53/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930474N05Rik |
A |
G |
14: 35,817,109 (GRCm39) |
D53G |
probably benign |
Het |
A1cf |
C |
T |
19: 31,909,945 (GRCm39) |
P330S |
probably benign |
Het |
Acta2 |
A |
G |
19: 34,225,941 (GRCm39) |
|
probably benign |
Het |
Actrt3 |
A |
G |
3: 30,651,985 (GRCm39) |
*370R |
probably null |
Het |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Cadps2 |
C |
G |
6: 23,838,977 (GRCm39) |
|
probably benign |
Het |
Camsap3 |
C |
T |
8: 3,656,808 (GRCm39) |
R1048C |
probably damaging |
Het |
Cdkl2 |
C |
T |
5: 92,181,538 (GRCm39) |
A148T |
possibly damaging |
Het |
Dab2 |
T |
A |
15: 6,464,733 (GRCm39) |
I395K |
possibly damaging |
Het |
Dclk2 |
A |
G |
3: 86,706,324 (GRCm39) |
F589S |
probably damaging |
Het |
Ddx60 |
T |
C |
8: 62,465,470 (GRCm39) |
S1376P |
possibly damaging |
Het |
Eprs1 |
T |
C |
1: 185,148,005 (GRCm39) |
F1256L |
probably damaging |
Het |
Etaa1 |
A |
T |
11: 17,895,605 (GRCm39) |
|
probably null |
Het |
Fat2 |
T |
C |
11: 55,202,727 (GRCm39) |
T116A |
possibly damaging |
Het |
Fem1al |
C |
A |
11: 29,773,718 (GRCm39) |
A580S |
probably benign |
Het |
Fmnl3 |
T |
C |
15: 99,268,108 (GRCm39) |
T26A |
probably benign |
Het |
Foxp1 |
A |
G |
6: 98,980,254 (GRCm39) |
V158A |
possibly damaging |
Het |
G6pd2 |
T |
A |
5: 61,967,351 (GRCm39) |
D375E |
probably benign |
Het |
Gne |
C |
T |
4: 44,042,196 (GRCm39) |
A460T |
probably damaging |
Het |
Gprin1 |
T |
A |
13: 54,886,238 (GRCm39) |
|
probably null |
Het |
Hecw2 |
T |
C |
1: 53,943,581 (GRCm39) |
M949V |
possibly damaging |
Het |
Herc1 |
G |
A |
9: 66,336,251 (GRCm39) |
V1599M |
possibly damaging |
Het |
Hk2 |
A |
C |
6: 82,708,096 (GRCm39) |
N628K |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,498,685 (GRCm39) |
T4065A |
possibly damaging |
Het |
Ipo8 |
T |
A |
6: 148,691,321 (GRCm39) |
Q683L |
probably benign |
Het |
Krt81 |
A |
G |
15: 101,361,217 (GRCm39) |
I121T |
probably benign |
Het |
Lamb2 |
T |
C |
9: 108,359,340 (GRCm39) |
L322P |
probably benign |
Het |
Lilrb4a |
A |
G |
10: 51,367,796 (GRCm39) |
M113V |
probably benign |
Het |
Mnat1 |
G |
A |
12: 73,265,917 (GRCm39) |
|
probably null |
Het |
Mucl1 |
T |
A |
15: 103,783,964 (GRCm39) |
T68S |
possibly damaging |
Het |
Npnt |
G |
T |
3: 132,597,170 (GRCm39) |
D461E |
probably damaging |
Het |
Nrp1 |
A |
T |
8: 129,224,385 (GRCm39) |
Q716L |
probably benign |
Het |
Or11g25 |
A |
G |
14: 50,723,097 (GRCm39) |
T61A |
possibly damaging |
Het |
Or12k5 |
T |
G |
2: 36,895,159 (GRCm39) |
S156R |
probably damaging |
Het |
Or51b6b |
A |
T |
7: 103,309,617 (GRCm39) |
I280N |
possibly damaging |
Het |
Podxl2 |
T |
C |
6: 88,826,178 (GRCm39) |
Q376R |
probably damaging |
Het |
Pudp |
T |
C |
18: 50,701,646 (GRCm39) |
D29G |
probably benign |
Het |
Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
S1pr3 |
T |
C |
13: 51,573,614 (GRCm39) |
I265T |
possibly damaging |
Het |
Scgb1b2 |
A |
T |
7: 30,991,038 (GRCm39) |
C23* |
probably null |
Het |
Spag8 |
G |
T |
4: 43,652,826 (GRCm39) |
R212S |
probably benign |
Het |
Tacc2 |
A |
G |
7: 130,335,299 (GRCm39) |
|
probably null |
Het |
Trmt1l |
C |
T |
1: 151,304,710 (GRCm39) |
|
probably benign |
Het |
Trpa1 |
A |
T |
1: 14,954,469 (GRCm39) |
L810Q |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Ugt3a1 |
T |
A |
15: 9,292,059 (GRCm39) |
|
probably benign |
Het |
Vmn2r23 |
T |
G |
6: 123,681,384 (GRCm39) |
I97M |
possibly damaging |
Het |
Vmn2r65 |
A |
T |
7: 84,590,051 (GRCm39) |
F622I |
possibly damaging |
Het |
Vps13a |
C |
T |
19: 16,697,817 (GRCm39) |
G766E |
probably damaging |
Het |
Wnk1 |
T |
C |
6: 119,946,495 (GRCm39) |
T553A |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,341,114 (GRCm39) |
D1118E |
probably damaging |
Het |
Zfyve9 |
A |
C |
4: 108,517,811 (GRCm39) |
D461E |
probably damaging |
Het |
|
Other mutations in Btbd8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01911:Btbd8
|
APN |
5 |
107,656,446 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02638:Btbd8
|
APN |
5 |
107,656,422 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL03001:Btbd8
|
APN |
5 |
107,645,708 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03007:Btbd8
|
APN |
5 |
107,651,542 (GRCm39) |
missense |
probably benign |
0.37 |
IGL03008:Btbd8
|
APN |
5 |
107,639,464 (GRCm39) |
splice site |
probably null |
|
IGL03281:Btbd8
|
APN |
5 |
107,651,742 (GRCm39) |
missense |
probably benign |
0.02 |
R0206:Btbd8
|
UTSW |
5 |
107,652,906 (GRCm39) |
missense |
probably benign |
0.00 |
R0426:Btbd8
|
UTSW |
5 |
107,658,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R0765:Btbd8
|
UTSW |
5 |
107,654,800 (GRCm39) |
missense |
probably benign |
0.14 |
R1747:Btbd8
|
UTSW |
5 |
107,599,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R2013:Btbd8
|
UTSW |
5 |
107,658,655 (GRCm39) |
missense |
probably damaging |
0.99 |
R3963:Btbd8
|
UTSW |
5 |
107,655,222 (GRCm39) |
missense |
probably damaging |
0.99 |
R4460:Btbd8
|
UTSW |
5 |
107,651,631 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4776:Btbd8
|
UTSW |
5 |
107,658,317 (GRCm39) |
missense |
probably damaging |
0.99 |
R4909:Btbd8
|
UTSW |
5 |
107,655,176 (GRCm39) |
nonsense |
probably null |
|
R5105:Btbd8
|
UTSW |
5 |
107,658,337 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5155:Btbd8
|
UTSW |
5 |
107,638,569 (GRCm39) |
missense |
probably damaging |
0.96 |
R5700:Btbd8
|
UTSW |
5 |
107,651,514 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5857:Btbd8
|
UTSW |
5 |
107,609,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R5908:Btbd8
|
UTSW |
5 |
107,655,460 (GRCm39) |
missense |
probably damaging |
0.96 |
R6089:Btbd8
|
UTSW |
5 |
107,654,895 (GRCm39) |
missense |
probably damaging |
0.99 |
R6339:Btbd8
|
UTSW |
5 |
107,651,583 (GRCm39) |
missense |
probably benign |
0.17 |
R6484:Btbd8
|
UTSW |
5 |
107,651,451 (GRCm39) |
missense |
probably benign |
0.00 |
R7282:Btbd8
|
UTSW |
5 |
107,658,371 (GRCm39) |
missense |
probably damaging |
0.99 |
R7282:Btbd8
|
UTSW |
5 |
107,655,062 (GRCm39) |
missense |
probably benign |
|
R7492:Btbd8
|
UTSW |
5 |
107,658,373 (GRCm39) |
missense |
probably benign |
0.01 |
R8087:Btbd8
|
UTSW |
5 |
107,632,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R8694:Btbd8
|
UTSW |
5 |
107,658,635 (GRCm39) |
missense |
probably benign |
0.02 |
R8777:Btbd8
|
UTSW |
5 |
107,658,293 (GRCm39) |
missense |
probably damaging |
0.99 |
R8777-TAIL:Btbd8
|
UTSW |
5 |
107,658,293 (GRCm39) |
missense |
probably damaging |
0.99 |
R8788:Btbd8
|
UTSW |
5 |
107,618,853 (GRCm39) |
makesense |
probably null |
|
R9240:Btbd8
|
UTSW |
5 |
107,600,034 (GRCm39) |
missense |
probably benign |
0.17 |
R9584:Btbd8
|
UTSW |
5 |
107,658,347 (GRCm39) |
missense |
probably benign |
0.40 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCTCCATGTATGACCACCG -3'
(R):5'- CCTTGAGGCGAACAATCTGTG -3'
Sequencing Primer
(F):5'- ATGTATGACCACCGGCCTTC -3'
(R):5'- TCTGTGGAAGAAACACTAGCC -3'
|
Posted On |
2014-10-30 |