Incidental Mutation 'R3717:Kbtbd3'
ID |
259962 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kbtbd3
|
Ensembl Gene |
ENSMUSG00000025893 |
Gene Name |
kelch repeat and BTB (POZ) domain containing 3 |
Synonyms |
Bklhd3, 2200003A07Rik |
MMRRC Submission |
040709-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.153)
|
Stock # |
R3717 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
4309833-4331732 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 4330598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 324
(H324L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148445
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049648]
[ENSMUST00000212221]
|
AlphaFold |
Q8BHI4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049648
AA Change: H324L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000050183 Gene: ENSMUSG00000025893 AA Change: H324L
Domain | Start | End | E-Value | Type |
BTB
|
48 |
145 |
1.83e-23 |
SMART |
BACK
|
150 |
252 |
1.19e-26 |
SMART |
Blast:Kelch
|
292 |
338 |
7e-15 |
BLAST |
Kelch
|
339 |
399 |
2.56e0 |
SMART |
Kelch
|
400 |
450 |
8.67e-4 |
SMART |
Kelch
|
548 |
597 |
3.3e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212221
AA Change: H324L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.0958 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd10 |
C |
T |
16: 45,552,137 (GRCm39) |
W245* |
probably null |
Het |
Alas2 |
T |
C |
X: 149,343,726 (GRCm39) |
|
probably benign |
Het |
Ano6 |
A |
G |
15: 95,811,260 (GRCm39) |
D120G |
probably damaging |
Het |
Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
Bpifb6 |
A |
G |
2: 153,750,061 (GRCm39) |
|
probably benign |
Het |
Cmtr2 |
T |
C |
8: 110,948,386 (GRCm39) |
V232A |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,228,995 (GRCm39) |
M2031K |
probably benign |
Het |
Dnajc10 |
A |
G |
2: 80,155,089 (GRCm39) |
|
probably benign |
Het |
Fetub |
T |
A |
16: 22,754,443 (GRCm39) |
C217S |
probably damaging |
Het |
Fgfr2 |
G |
A |
7: 129,784,487 (GRCm39) |
T270M |
probably damaging |
Het |
Hoxd10 |
C |
T |
2: 74,524,474 (GRCm39) |
T262I |
probably damaging |
Het |
Htt |
G |
A |
5: 34,968,866 (GRCm39) |
|
probably benign |
Het |
Mink1 |
T |
A |
11: 70,498,587 (GRCm39) |
L584Q |
probably damaging |
Het |
Mtrex |
A |
G |
13: 113,032,129 (GRCm39) |
F561S |
probably damaging |
Het |
Nav1 |
A |
T |
1: 135,378,368 (GRCm39) |
I1653K |
probably damaging |
Het |
Neb |
T |
C |
2: 52,167,482 (GRCm39) |
E1948G |
probably damaging |
Het |
Nxpe5 |
T |
C |
5: 138,249,886 (GRCm39) |
S559P |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,973,487 (GRCm39) |
C2157Y |
probably damaging |
Het |
Or10q12 |
A |
G |
19: 13,746,428 (GRCm39) |
R241G |
probably damaging |
Het |
Or9k2b |
T |
A |
10: 130,016,369 (GRCm39) |
I127F |
possibly damaging |
Het |
Ptx3 |
G |
T |
3: 66,132,376 (GRCm39) |
S299I |
probably benign |
Het |
Rbbp4 |
T |
A |
4: 129,222,425 (GRCm39) |
D89V |
probably benign |
Het |
Rfx4 |
A |
G |
10: 84,716,088 (GRCm39) |
E375G |
probably damaging |
Het |
Senp7 |
T |
A |
16: 55,999,420 (GRCm39) |
|
probably benign |
Het |
Sh3tc2 |
T |
C |
18: 62,123,414 (GRCm39) |
V725A |
probably benign |
Het |
Skint10 |
A |
T |
4: 112,603,936 (GRCm39) |
W84R |
probably damaging |
Het |
Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
Spata18 |
A |
T |
5: 73,824,193 (GRCm39) |
|
probably null |
Het |
St8sia6 |
T |
C |
2: 13,661,745 (GRCm39) |
N362S |
possibly damaging |
Het |
Tmub2 |
G |
T |
11: 102,175,887 (GRCm39) |
|
probably benign |
Het |
Ttn |
G |
A |
2: 76,575,558 (GRCm39) |
P25112S |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,775,054 (GRCm39) |
D1996G |
possibly damaging |
Het |
Ubac1 |
C |
T |
2: 25,904,953 (GRCm39) |
R95H |
probably damaging |
Het |
Vdac1 |
A |
G |
11: 52,267,473 (GRCm39) |
|
probably null |
Het |
Vps51 |
G |
A |
19: 6,127,198 (GRCm39) |
|
probably benign |
Het |
Zfp90 |
A |
G |
8: 107,150,682 (GRCm39) |
R132G |
probably benign |
Het |
|
Other mutations in Kbtbd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00642:Kbtbd3
|
APN |
9 |
4,330,169 (GRCm39) |
missense |
probably benign |
|
IGL00674:Kbtbd3
|
APN |
9 |
4,329,949 (GRCm39) |
missense |
probably benign |
0.05 |
IGL00848:Kbtbd3
|
APN |
9 |
4,331,184 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01949:Kbtbd3
|
APN |
9 |
4,331,066 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02619:Kbtbd3
|
APN |
9 |
4,331,252 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02830:Kbtbd3
|
APN |
9 |
4,330,096 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02894:Kbtbd3
|
APN |
9 |
4,331,444 (GRCm39) |
missense |
probably benign |
0.05 |
R0239:Kbtbd3
|
UTSW |
9 |
4,330,144 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0239:Kbtbd3
|
UTSW |
9 |
4,330,144 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0348:Kbtbd3
|
UTSW |
9 |
4,330,519 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0372:Kbtbd3
|
UTSW |
9 |
4,316,950 (GRCm39) |
missense |
possibly damaging |
0.75 |
R0380:Kbtbd3
|
UTSW |
9 |
4,330,545 (GRCm39) |
nonsense |
probably null |
|
R0644:Kbtbd3
|
UTSW |
9 |
4,329,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R1496:Kbtbd3
|
UTSW |
9 |
4,330,276 (GRCm39) |
missense |
probably benign |
|
R1651:Kbtbd3
|
UTSW |
9 |
4,330,589 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1707:Kbtbd3
|
UTSW |
9 |
4,316,985 (GRCm39) |
missense |
probably benign |
0.01 |
R1998:Kbtbd3
|
UTSW |
9 |
4,330,760 (GRCm39) |
missense |
probably benign |
0.01 |
R2012:Kbtbd3
|
UTSW |
9 |
4,330,919 (GRCm39) |
missense |
probably benign |
|
R2027:Kbtbd3
|
UTSW |
9 |
4,317,075 (GRCm39) |
splice site |
probably benign |
|
R4463:Kbtbd3
|
UTSW |
9 |
4,331,257 (GRCm39) |
missense |
probably damaging |
0.99 |
R4482:Kbtbd3
|
UTSW |
9 |
4,331,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R4795:Kbtbd3
|
UTSW |
9 |
4,331,073 (GRCm39) |
nonsense |
probably null |
|
R5195:Kbtbd3
|
UTSW |
9 |
4,316,905 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5645:Kbtbd3
|
UTSW |
9 |
4,331,426 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5753:Kbtbd3
|
UTSW |
9 |
4,331,404 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5898:Kbtbd3
|
UTSW |
9 |
4,330,476 (GRCm39) |
missense |
probably damaging |
0.97 |
R6463:Kbtbd3
|
UTSW |
9 |
4,316,921 (GRCm39) |
missense |
probably benign |
|
R6681:Kbtbd3
|
UTSW |
9 |
4,330,687 (GRCm39) |
missense |
probably benign |
0.00 |
R7284:Kbtbd3
|
UTSW |
9 |
4,330,690 (GRCm39) |
nonsense |
probably null |
|
R7390:Kbtbd3
|
UTSW |
9 |
4,330,424 (GRCm39) |
missense |
probably benign |
0.27 |
R7735:Kbtbd3
|
UTSW |
9 |
4,330,846 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7793:Kbtbd3
|
UTSW |
9 |
4,331,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R7950:Kbtbd3
|
UTSW |
9 |
4,316,878 (GRCm39) |
nonsense |
probably null |
|
R8005:Kbtbd3
|
UTSW |
9 |
4,330,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R8050:Kbtbd3
|
UTSW |
9 |
4,330,408 (GRCm39) |
missense |
probably benign |
0.43 |
R8213:Kbtbd3
|
UTSW |
9 |
4,331,269 (GRCm39) |
missense |
probably damaging |
0.99 |
R9163:Kbtbd3
|
UTSW |
9 |
4,330,584 (GRCm39) |
missense |
probably benign |
0.30 |
X0024:Kbtbd3
|
UTSW |
9 |
4,331,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAATCGTGGATGCCATTAAGTGTG -3'
(R):5'- TTGAGAGCCATGACTGATGTATG -3'
Sequencing Primer
(F):5'- GCCATTAAGTGTGTACAAGGTTC -3'
(R):5'- AGCCATGACTGATGTATGCATGG -3'
|
Posted On |
2015-01-23 |