Incidental Mutation 'IGL02638:Btbd8'
| ID |
301628 |
| 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: 0.118)
|
| Stock # |
IGL02638
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
107585863-107659073 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107656422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 895
(V895A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108290
(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 |
possibly damaging
Transcript: ENSMUST00000100951
AA Change: V895A
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098511
Gene: ENSMUSG00000111375
AA Change: V895A
| 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 |
possibly damaging
Transcript: ENSMUST00000112671
AA Change: V895A
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108290
Gene: ENSMUSG00000111375
AA Change: V895A
| 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 |
unknown
Transcript: ENSMUST00000143074
AA Change: V312A
|
| SMART Domains |
Protein: ENSMUSP00000122032
Gene: ENSMUSG00000106631
AA Change: V312A
| 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 |
probably benign
Transcript: ENSMUST00000211896
AA Change: V1407A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh3 |
T |
A |
2: 93,838,458 (GRCm39) |
T38S |
probably benign |
Het |
| Cdkn2c |
A |
G |
4: 109,522,209 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
A |
C |
3: 144,631,939 (GRCm39) |
C189G |
probably damaging |
Het |
| Clec4f |
T |
A |
6: 83,629,682 (GRCm39) |
N292I |
possibly damaging |
Het |
| Dkk3 |
A |
C |
7: 111,748,234 (GRCm39) |
S123R |
probably benign |
Het |
| Dock1 |
C |
T |
7: 134,748,209 (GRCm39) |
A1557V |
probably benign |
Het |
| E130308A19Rik |
C |
T |
4: 59,719,676 (GRCm39) |
Q403* |
probably null |
Het |
| F5 |
G |
A |
1: 164,012,177 (GRCm39) |
|
probably null |
Het |
| Fam98c |
T |
A |
7: 28,852,187 (GRCm39) |
D326V |
probably damaging |
Het |
| Firrm |
G |
A |
1: 163,786,868 (GRCm39) |
Q734* |
probably null |
Het |
| Frem2 |
A |
C |
3: 53,458,767 (GRCm39) |
V2034G |
possibly damaging |
Het |
| Galnt2 |
G |
A |
8: 124,958,318 (GRCm39) |
G18D |
probably damaging |
Het |
| Grhl3 |
T |
C |
4: 135,284,176 (GRCm39) |
E222G |
probably benign |
Het |
| Hif3a |
A |
C |
7: 16,778,293 (GRCm39) |
|
probably benign |
Het |
| Ibtk |
C |
T |
9: 85,601,946 (GRCm39) |
G755D |
probably damaging |
Het |
| Laptm4b |
A |
G |
15: 34,277,630 (GRCm39) |
N187S |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,232,380 (GRCm39) |
T776A |
probably damaging |
Het |
| Matcap2 |
A |
T |
9: 22,341,775 (GRCm39) |
K149* |
probably null |
Het |
| Mfhas1 |
T |
A |
8: 36,058,104 (GRCm39) |
W860R |
possibly damaging |
Het |
| Mon2 |
A |
C |
10: 122,859,844 (GRCm39) |
W811G |
probably damaging |
Het |
| Nup42 |
A |
G |
5: 24,380,505 (GRCm39) |
T167A |
probably benign |
Het |
| Or10j2 |
A |
G |
1: 173,097,898 (GRCm39) |
D52G |
probably benign |
Het |
| Or2z2 |
C |
A |
11: 58,345,873 (GRCm39) |
A301S |
probably damaging |
Het |
| Or4k45 |
T |
C |
2: 111,395,249 (GRCm39) |
D180G |
probably damaging |
Het |
| Or5w10 |
T |
C |
2: 87,375,093 (GRCm39) |
Y265C |
probably damaging |
Het |
| Or8j3c |
T |
C |
2: 86,254,021 (GRCm39) |
|
probably null |
Het |
| Pgap2 |
T |
C |
7: 101,886,629 (GRCm39) |
L217P |
probably damaging |
Het |
| Pik3c2b |
T |
G |
1: 133,005,056 (GRCm39) |
|
probably benign |
Het |
| Ppfia3 |
T |
A |
7: 45,006,092 (GRCm39) |
D149V |
probably damaging |
Het |
| Prkcb |
C |
T |
7: 122,200,063 (GRCm39) |
|
probably benign |
Het |
| Prl |
A |
G |
13: 27,245,562 (GRCm39) |
D97G |
probably benign |
Het |
| Psma5-ps |
T |
C |
10: 85,149,698 (GRCm39) |
|
noncoding transcript |
Het |
| Rnf112 |
T |
C |
11: 61,340,231 (GRCm39) |
|
probably benign |
Het |
| Slc17a8 |
C |
A |
10: 89,412,465 (GRCm39) |
G323* |
probably null |
Het |
| Snx19 |
T |
C |
9: 30,343,660 (GRCm39) |
F607L |
possibly damaging |
Het |
| Suco |
A |
G |
1: 161,655,256 (GRCm39) |
S1079P |
probably damaging |
Het |
| Taf5 |
T |
C |
19: 47,056,649 (GRCm39) |
L149P |
probably benign |
Het |
| Taf6l |
T |
C |
19: 8,752,630 (GRCm39) |
M379V |
probably benign |
Het |
| Tcf25 |
T |
C |
8: 124,126,031 (GRCm39) |
F558L |
probably damaging |
Het |
| Tlcd1 |
T |
C |
11: 78,070,444 (GRCm39) |
V102A |
probably benign |
Het |
| Tmc5 |
G |
T |
7: 118,226,456 (GRCm39) |
A274S |
probably benign |
Het |
| Toporsl |
C |
T |
4: 52,611,624 (GRCm39) |
H506Y |
probably benign |
Het |
| Ubtd1 |
T |
C |
19: 42,022,109 (GRCm39) |
L127P |
possibly damaging |
Het |
| Usp24 |
A |
C |
4: 106,295,967 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
C |
A |
4: 106,295,969 (GRCm39) |
|
probably benign |
Het |
| Usp43 |
T |
G |
11: 67,746,581 (GRCm39) |
D1042A |
probably benign |
Het |
| Whrn |
T |
C |
4: 63,337,709 (GRCm39) |
T48A |
possibly damaging |
Het |
| Wnt2b |
A |
G |
3: 104,862,032 (GRCm39) |
I102T |
probably benign |
Het |
| Zfp763 |
T |
C |
17: 33,238,908 (GRCm39) |
D79G |
probably benign |
Het |
| Zmat4 |
A |
G |
8: 24,287,389 (GRCm39) |
Y45C |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation