Incidental Mutation 'R0644:Kbtbd3'
| ID |
57003 |
| 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 |
038829-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R0644 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
4309833-4331732 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4329868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 81
(M81L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049648]
[ENSMUST00000212221]
|
| AlphaFold |
Q8BHI4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049648
AA Change: M81L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: M81L
| 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 damaging
Transcript: ENSMUST00000212221
AA Change: M81L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
T |
9: 44,185,996 (GRCm39) |
I625N |
possibly damaging |
Het |
| Accs |
A |
G |
2: 93,669,574 (GRCm39) |
L282P |
probably damaging |
Het |
| Acsbg1 |
T |
A |
9: 54,517,110 (GRCm39) |
I568F |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Atp5po |
A |
T |
16: 91,723,372 (GRCm39) |
V73E |
probably damaging |
Het |
| Bcl9 |
T |
C |
3: 97,117,813 (GRCm39) |
S294G |
probably benign |
Het |
| C2cd5 |
A |
T |
6: 142,958,950 (GRCm39) |
M1003K |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,825,523 (GRCm39) |
|
probably null |
Het |
| Dera |
A |
T |
6: 137,760,046 (GRCm39) |
T165S |
probably benign |
Het |
| Elf2 |
C |
T |
3: 51,215,552 (GRCm39) |
V53M |
probably damaging |
Het |
| Entpd5 |
A |
T |
12: 84,432,915 (GRCm39) |
F212L |
probably benign |
Het |
| Fndc3c1 |
T |
A |
X: 105,478,568 (GRCm39) |
T761S |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,807,241 (GRCm39) |
T1187A |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,187,533 (GRCm39) |
S95P |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,046,122 (GRCm39) |
|
probably null |
Het |
| Impdh2 |
G |
T |
9: 108,440,836 (GRCm39) |
V112L |
possibly damaging |
Het |
| Lactb |
T |
C |
9: 66,863,172 (GRCm39) |
R481G |
possibly damaging |
Het |
| Nacad |
C |
T |
11: 6,549,486 (GRCm39) |
C1235Y |
possibly damaging |
Het |
| Or5d37 |
T |
A |
2: 87,923,633 (GRCm39) |
M216L |
probably benign |
Het |
| Or5h26 |
G |
A |
16: 58,987,979 (GRCm39) |
H176Y |
probably damaging |
Het |
| Osbpl6 |
C |
T |
2: 76,425,184 (GRCm39) |
R878C |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,534,232 (GRCm39) |
P91L |
probably damaging |
Het |
| Rab27a |
T |
A |
9: 73,002,705 (GRCm39) |
S211R |
probably benign |
Het |
| Scn9a |
C |
T |
2: 66,363,405 (GRCm39) |
|
probably null |
Het |
| Shank2 |
T |
C |
7: 143,965,586 (GRCm39) |
S1065P |
probably benign |
Het |
| Tent5d |
T |
C |
X: 106,914,251 (GRCm39) |
F111S |
probably damaging |
Het |
| Tgm4 |
A |
T |
9: 122,880,523 (GRCm39) |
D308V |
probably damaging |
Het |
| Vps26c |
A |
G |
16: 94,303,054 (GRCm39) |
L182P |
probably damaging |
Het |
| Ythdf3 |
T |
C |
3: 16,259,056 (GRCm39) |
I412T |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,487,656 (GRCm39) |
V777A |
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 |
|
|
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 |
|
|
R3717:Kbtbd3
|
UTSW |
9 |
4,330,598 (GRCm39) |
missense |
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'- GGTAGCAGTGGGCCTCTCATTTTC -3'
(R):5'- TGACTGAACAACTGGGCAGAGC -3'
Sequencing Primer
(F):5'- CTTTCTGTGTATCAGCTACACTG -3'
(R):5'- CCGTAGCTGTCTGACAGAGATAAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation