Incidental Mutation 'IGL03281:Btbd8'
| ID |
415603 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Btbd8
|
| Ensembl Gene |
ENSMUSG00000070632 |
| Gene Name |
BTB domain containing 8 |
| Synonyms |
EG627196, A830010M20Rik, Gm16115 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
IGL03281
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
107585863-107659073 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107651742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 212
(T212S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060553]
[ENSMUST00000100951]
[ENSMUST00000112671]
[ENSMUST00000152474]
[ENSMUST00000211896]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060553
AA Change: T212S
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100951
AA Change: T212S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098511
Gene: ENSMUSG00000111375
AA Change: T212S
| 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: T212S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000108290
Gene: ENSMUSG00000111375
AA Change: T212S
| 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: T212S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000114881
Gene: ENSMUSG00000111375
AA Change: T212S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
339 |
352 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211896
AA Change: T724S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
G |
A |
11: 58,771,601 (GRCm39) |
R361H |
probably benign |
Het |
| Abcd2 |
G |
T |
15: 91,035,876 (GRCm39) |
T663K |
probably damaging |
Het |
| Bud23 |
C |
T |
5: 135,092,741 (GRCm39) |
R28H |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,320,256 (GRCm39) |
Y852C |
probably damaging |
Het |
| Dll1 |
C |
A |
17: 15,593,866 (GRCm39) |
R167L |
probably benign |
Het |
| Hmgxb4 |
A |
G |
8: 75,750,790 (GRCm39) |
T538A |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,155,526 (GRCm39) |
V355A |
possibly damaging |
Het |
| Hrnr |
A |
T |
3: 93,230,158 (GRCm39) |
E132V |
probably benign |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,571 (GRCm39) |
|
probably benign |
Het |
| Kcnu1 |
A |
T |
8: 26,382,105 (GRCm39) |
Q485L |
probably null |
Het |
| Lrp1b |
T |
A |
2: 40,615,526 (GRCm39) |
M3626L |
probably benign |
Het |
| Magea6 |
G |
T |
X: 153,707,623 (GRCm39) |
C144* |
probably null |
Het |
| Map1a |
G |
T |
2: 121,135,541 (GRCm39) |
R1881L |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,128 (GRCm39) |
Y636F |
probably damaging |
Het |
| Or12j5 |
T |
A |
7: 140,083,713 (GRCm39) |
I220F |
probably damaging |
Het |
| Or6c2 |
T |
A |
10: 129,362,272 (GRCm39) |
F59I |
probably benign |
Het |
| Prg4 |
A |
G |
1: 150,325,839 (GRCm39) |
|
probably benign |
Het |
| Ptpn4 |
T |
G |
1: 119,587,642 (GRCm39) |
Q900H |
probably damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,062,428 (GRCm39) |
|
probably null |
Het |
| Rasgrp4 |
C |
T |
7: 28,845,450 (GRCm39) |
A381V |
possibly damaging |
Het |
| Selenbp1 |
A |
T |
3: 94,844,621 (GRCm39) |
K93* |
probably null |
Het |
| Skint5 |
T |
A |
4: 113,524,415 (GRCm39) |
K855N |
unknown |
Het |
| Tssk4 |
T |
C |
14: 55,887,885 (GRCm39) |
V27A |
possibly damaging |
Het |
| Ttc39a |
C |
A |
4: 109,290,219 (GRCm39) |
Q310K |
possibly damaging |
Het |
| Utp18 |
C |
T |
11: 93,766,784 (GRCm39) |
V276I |
probably damaging |
Het |
| Vmn2r45 |
C |
A |
7: 8,486,603 (GRCm39) |
L228F |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation