Incidental Mutation 'R0765:Btbd8'
ID |
72601 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btbd8
|
Ensembl Gene |
ENSMUSG00000070632 |
Gene Name |
BTB domain containing 8 |
Synonyms |
EG627196, A830010M20Rik, Gm16115 |
MMRRC Submission |
038945-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.132)
|
Stock # |
R0765 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
107585863-107659073 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 107654800 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 354
(D354E)
|
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 benign
Transcript: ENSMUST00000100951
AA Change: D354E
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000098511 Gene: ENSMUSG00000111375 AA Change: D354E
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
AA Change: D354E
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000108290 Gene: ENSMUSG00000111375 AA Change: D354E
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
AA Change: D353E
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000114881 Gene: ENSMUSG00000111375 AA Change: D353E
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 |
probably benign
Transcript: ENSMUST00000211896
AA Change: D866E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Meta Mutation Damage Score |
0.0599 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.7%
|
Validation Efficiency |
100% (62/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16a |
T |
A |
17: 35,320,827 (GRCm39) |
V425D |
probably benign |
Het |
Ano9 |
T |
G |
7: 140,687,097 (GRCm39) |
I381L |
probably damaging |
Het |
Apob |
C |
T |
12: 8,066,518 (GRCm39) |
L4496F |
probably benign |
Het |
Arhgef38 |
C |
T |
3: 132,822,344 (GRCm39) |
E724K |
probably damaging |
Het |
Atp8b4 |
T |
A |
2: 126,214,070 (GRCm39) |
|
probably null |
Het |
Baiap2l1 |
G |
T |
5: 144,214,513 (GRCm39) |
P394T |
probably damaging |
Het |
Cnbp |
C |
A |
6: 87,822,155 (GRCm39) |
C122F |
probably damaging |
Het |
Col3a1 |
A |
G |
1: 45,375,811 (GRCm39) |
|
probably benign |
Het |
Colq |
T |
G |
14: 31,247,994 (GRCm39) |
D408A |
possibly damaging |
Het |
Cuzd1 |
A |
T |
7: 130,917,824 (GRCm39) |
S259T |
probably benign |
Het |
Cyp3a57 |
A |
G |
5: 145,327,220 (GRCm39) |
|
probably benign |
Het |
Dbn1 |
C |
A |
13: 55,630,107 (GRCm39) |
V112F |
probably damaging |
Het |
Dcc |
T |
A |
18: 71,496,061 (GRCm39) |
D1028V |
probably damaging |
Het |
Dnajb11 |
T |
C |
16: 22,681,318 (GRCm39) |
V32A |
probably damaging |
Het |
Dsg4 |
G |
A |
18: 20,587,703 (GRCm39) |
|
probably benign |
Het |
Dyrk1b |
C |
T |
7: 27,885,136 (GRCm39) |
|
probably benign |
Het |
Ebf1 |
T |
A |
11: 44,759,987 (GRCm39) |
M208K |
probably damaging |
Het |
Efhc1 |
A |
G |
1: 21,048,876 (GRCm39) |
I430V |
probably benign |
Het |
Elovl2 |
T |
C |
13: 41,340,942 (GRCm39) |
Y181C |
probably benign |
Het |
Fras1 |
A |
G |
5: 96,700,655 (GRCm39) |
Q225R |
probably benign |
Het |
Frmd3 |
G |
A |
4: 74,080,004 (GRCm39) |
R332Q |
probably damaging |
Het |
Glg1 |
A |
G |
8: 111,886,429 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
G |
A |
1: 150,684,538 (GRCm39) |
T344M |
probably damaging |
Het |
Il1rap |
T |
G |
16: 26,529,382 (GRCm39) |
|
probably null |
Het |
Klra1 |
A |
T |
6: 130,356,055 (GRCm39) |
|
probably benign |
Het |
Larp7 |
C |
A |
3: 127,339,814 (GRCm39) |
K289N |
probably damaging |
Het |
Lgr6 |
C |
A |
1: 134,921,624 (GRCm39) |
G240V |
probably benign |
Het |
Lrp10 |
G |
T |
14: 54,705,547 (GRCm39) |
D246Y |
probably damaging |
Het |
Map3k20 |
G |
A |
2: 72,202,269 (GRCm39) |
V167I |
probably damaging |
Het |
Med23 |
T |
C |
10: 24,776,608 (GRCm39) |
S347P |
probably damaging |
Het |
Mybph |
T |
C |
1: 134,125,234 (GRCm39) |
V254A |
possibly damaging |
Het |
Ndufv2 |
A |
G |
17: 66,408,073 (GRCm39) |
|
probably benign |
Het |
Nuf2 |
A |
T |
1: 169,350,505 (GRCm39) |
|
probably benign |
Het |
Nup210l |
T |
C |
3: 90,027,184 (GRCm39) |
Y189H |
probably damaging |
Het |
Or4c52 |
G |
A |
2: 89,846,014 (GRCm39) |
V247I |
probably benign |
Het |
Or51t4 |
C |
T |
7: 102,597,939 (GRCm39) |
T79I |
probably damaging |
Het |
Or5m13 |
T |
C |
2: 85,749,049 (GRCm39) |
L260P |
probably damaging |
Het |
Pdgfra |
C |
A |
5: 75,348,648 (GRCm39) |
|
probably benign |
Het |
Phlpp1 |
T |
C |
1: 106,320,013 (GRCm39) |
L1336P |
probably damaging |
Het |
Prpf38b |
T |
C |
3: 108,818,734 (GRCm39) |
T9A |
possibly damaging |
Het |
Rnf213 |
G |
A |
11: 119,313,921 (GRCm39) |
|
probably null |
Het |
Saal1 |
A |
T |
7: 46,349,071 (GRCm39) |
V281E |
possibly damaging |
Het |
Slc17a3 |
C |
T |
13: 24,030,879 (GRCm39) |
Q186* |
probably null |
Het |
Slc6a2 |
A |
G |
8: 93,715,659 (GRCm39) |
T266A |
probably damaging |
Het |
Snai2 |
T |
C |
16: 14,524,668 (GRCm39) |
V58A |
possibly damaging |
Het |
Srfbp1 |
T |
C |
18: 52,623,507 (GRCm39) |
|
probably benign |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Tesk1 |
C |
T |
4: 43,446,706 (GRCm39) |
P365S |
possibly damaging |
Het |
Tmem127 |
C |
A |
2: 127,099,069 (GRCm39) |
T201K |
probably damaging |
Het |
Trim17 |
T |
G |
11: 58,862,195 (GRCm39) |
V409G |
possibly damaging |
Het |
Trim43c |
C |
T |
9: 88,723,969 (GRCm39) |
T165I |
probably benign |
Het |
Ush2a |
C |
A |
1: 188,680,771 (GRCm39) |
F4916L |
possibly damaging |
Het |
Vmn1r89 |
A |
G |
7: 12,953,467 (GRCm39) |
M68V |
probably benign |
Het |
Vmn2r105 |
C |
T |
17: 20,447,973 (GRCm39) |
E284K |
probably benign |
Het |
Vmn2r105 |
T |
C |
17: 20,448,119 (GRCm39) |
D235G |
probably damaging |
Het |
Vmn2r-ps134 |
C |
T |
17: 23,665,015 (GRCm39) |
|
noncoding transcript |
Het |
Zdbf2 |
G |
A |
1: 63,344,882 (GRCm39) |
S1087N |
possibly damaging |
Het |
Zfp534 |
G |
A |
4: 147,758,693 (GRCm39) |
P659S |
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 |
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 |
R2338:Btbd8
|
UTSW |
5 |
107,658,440 (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'- CCAATTTGGGCACGATGAAGGTTC -3'
(R):5'- CATGAAGCACGCTTTTCTCAGCTAC -3'
Sequencing Primer
(F):5'- GACTGTCAATACTAGATGTTTCCCTG -3'
(R):5'- CGCTGAGAAGCATGACTTTGC -3'
|
Posted On |
2013-09-30 |