Incidental Mutation 'R4482:Kbtbd3'
| ID |
331465 |
| 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 |
041738-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R4482 (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 4331051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 475
(Y475F)
|
| 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: Y475F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: Y475F
| 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: Y475F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
A |
G |
11: 3,845,008 (GRCm39) |
V27A |
possibly damaging |
Het |
| Actn3 |
A |
T |
19: 4,913,436 (GRCm39) |
|
probably null |
Het |
| Adamts20 |
T |
C |
15: 94,243,801 (GRCm39) |
Y642C |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,620,228 (GRCm39) |
D1187G |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,275,072 (GRCm39) |
|
probably benign |
Het |
| Bsn |
C |
A |
9: 107,991,863 (GRCm39) |
K1296N |
probably damaging |
Het |
| Cct5 |
T |
C |
15: 31,597,715 (GRCm39) |
D58G |
probably damaging |
Het |
| Cyp4a10 |
T |
C |
4: 115,389,795 (GRCm39) |
F467L |
probably damaging |
Het |
| Dicer1 |
A |
G |
12: 104,672,536 (GRCm39) |
Y904H |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,205,530 (GRCm39) |
|
probably null |
Het |
| Fhip1b |
A |
T |
7: 105,038,881 (GRCm39) |
F119L |
probably benign |
Het |
| Git1 |
T |
A |
11: 77,391,333 (GRCm39) |
Y189N |
possibly damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Itga6 |
T |
A |
2: 71,686,259 (GRCm39) |
I1059N |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Map3k6 |
T |
C |
4: 132,970,710 (GRCm39) |
I199T |
probably benign |
Het |
| Mtmr7 |
T |
C |
8: 41,007,425 (GRCm39) |
M503V |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,577,075 (GRCm39) |
T2192A |
unknown |
Het |
| Nexn |
T |
C |
3: 151,948,390 (GRCm39) |
E391G |
probably damaging |
Het |
| Or5h22 |
G |
T |
16: 58,895,286 (GRCm39) |
H52Q |
probably benign |
Het |
| Parg |
A |
G |
14: 31,984,731 (GRCm39) |
I254V |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pomt2 |
G |
A |
12: 87,178,604 (GRCm39) |
P290S |
probably benign |
Het |
| Rasl10a |
T |
A |
11: 5,008,429 (GRCm39) |
Y42N |
probably damaging |
Het |
| Slc4a8 |
C |
A |
15: 100,708,480 (GRCm39) |
F871L |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,980,935 (GRCm39) |
|
probably null |
Het |
| Trim21 |
G |
A |
7: 102,213,140 (GRCm39) |
Q53* |
probably null |
Het |
| Triobp |
T |
C |
15: 78,850,763 (GRCm39) |
S306P |
possibly damaging |
Het |
| Vasn |
A |
T |
16: 4,466,190 (GRCm39) |
T46S |
possibly damaging |
Het |
| Wmp |
T |
A |
X: 106,990,237 (GRCm39) |
L225F |
possibly damaging |
Het |
| Zfp236 |
A |
T |
18: 82,662,346 (GRCm39) |
F529Y |
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 |
|
|
R3717:Kbtbd3
|
UTSW |
9 |
4,330,598 (GRCm39) |
missense |
probably benign |
|
|
R4463:Kbtbd3
|
UTSW |
9 |
4,331,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GGGTCCCAGGACATTAAAAGTC -3'
(R):5'- TCAATTCCAATTGCACCTGC -3'
Sequencing Primer
(F):5'- GTCCCAGGACATTAAAAGTCTCTTAG -3'
(R):5'- GCACCTGCATTAAAACCTGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation