Incidental Mutation 'R4460:Btbd8'
| ID |
330099 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btbd8
|
| Ensembl Gene |
ENSMUSG00000070632 |
| Gene Name |
BTB domain containing 8 |
| Synonyms |
EG627196, A830010M20Rik, Gm16115 |
| MMRRC Submission |
041719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R4460 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
107585863-107659073 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107651631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 687
(T687A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060553]
[ENSMUST00000100951]
[ENSMUST00000112671]
[ENSMUST00000152474]
[ENSMUST00000211896]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060553
AA Change: T175A
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100951
AA Change: T175A
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000098511
Gene: ENSMUSG00000111375
AA Change: T175A
| 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: T175A
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108290
Gene: ENSMUSG00000111375
AA Change: T175A
| 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 |
possibly damaging
Transcript: ENSMUST00000152474
AA Change: T175A
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114881
Gene: ENSMUSG00000111375
AA Change: T175A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
339 |
352 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211896
AA Change: T687A
PolyPhen 2
Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C030048H21Rik |
A |
G |
2: 26,145,875 (GRCm39) |
|
probably null |
Het |
| Cav1 |
A |
G |
6: 17,306,471 (GRCm39) |
D8G |
probably damaging |
Het |
| Celf6 |
G |
A |
9: 59,510,327 (GRCm39) |
R103H |
probably damaging |
Het |
| Ctr9 |
A |
G |
7: 110,646,101 (GRCm39) |
I698V |
probably benign |
Het |
| Cts6 |
G |
C |
13: 61,343,272 (GRCm39) |
I316M |
probably benign |
Het |
| Dnajc13 |
C |
A |
9: 104,058,262 (GRCm39) |
R1496L |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,411,519 (GRCm39) |
Y1786H |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,852,281 (GRCm39) |
T1268I |
probably benign |
Het |
| Itga2 |
C |
G |
13: 114,980,019 (GRCm39) |
D1061H |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhl26 |
T |
C |
8: 70,904,194 (GRCm39) |
Y538C |
probably damaging |
Het |
| Ltk |
A |
G |
2: 119,586,094 (GRCm39) |
|
probably null |
Het |
| Med20 |
T |
C |
17: 47,929,842 (GRCm39) |
V93A |
probably benign |
Het |
| Mmp9 |
G |
T |
2: 164,790,958 (GRCm39) |
K115N |
probably damaging |
Het |
| Mroh5 |
A |
T |
15: 73,663,645 (GRCm39) |
D339E |
probably damaging |
Het |
| Muc1 |
A |
T |
3: 89,138,870 (GRCm39) |
D493V |
probably damaging |
Het |
| Mx1 |
G |
T |
16: 97,255,281 (GRCm39) |
S113R |
probably damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,077,523 (GRCm39) |
H698L |
probably damaging |
Het |
| Nol9 |
T |
G |
4: 152,142,293 (GRCm39) |
L641R |
probably damaging |
Het |
| Pla2g4e |
T |
G |
2: 120,016,863 (GRCm39) |
H226P |
possibly damaging |
Het |
| Pou2f1 |
A |
G |
1: 165,722,575 (GRCm39) |
F337L |
probably damaging |
Het |
| Prkn |
A |
T |
17: 12,280,533 (GRCm39) |
D463V |
probably damaging |
Het |
| Ptcd1 |
G |
T |
5: 145,096,316 (GRCm39) |
A259E |
probably benign |
Het |
| Ptov1 |
T |
C |
7: 44,515,000 (GRCm39) |
M204V |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,003,402 (GRCm39) |
F419S |
possibly damaging |
Het |
| Rbbp8nl |
A |
G |
2: 179,922,764 (GRCm39) |
S210P |
probably benign |
Het |
| Rgmb |
C |
A |
17: 16,027,888 (GRCm39) |
R277L |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,309,516 (GRCm39) |
E22G |
probably benign |
Het |
| Snx30 |
A |
T |
4: 59,885,022 (GRCm39) |
R221* |
probably null |
Het |
| Tmem143 |
C |
T |
7: 45,556,376 (GRCm39) |
T97I |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,644,991 (GRCm39) |
F12955V |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,255,971 (GRCm39) |
|
probably null |
Het |
| Vmn1r203 |
T |
A |
13: 22,708,852 (GRCm39) |
M211K |
probably damaging |
Het |
| Vmn2r121 |
G |
A |
X: 123,038,281 (GRCm39) |
P580S |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 6,821,481 (GRCm39) |
D491E |
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 |
|
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 |
|
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'- AGTCTAAAACTATGGTAAAGCCCC -3'
(R):5'- ACCATCTGTCCTGGGGAATC -3'
Sequencing Primer
(F):5'- ACTATGGTAAAGCCCCAAACAG -3'
(R):5'- GGGAATCACTAACGTATGGCTTCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation