Incidental Mutation 'R6463:Kbtbd3'
| ID |
517691 |
| 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 |
045324-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R6463 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
4309833-4331732 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4316921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 24
(Y24C)
|
| 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: Y24C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: Y24C
| 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: Y24C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.4%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
T |
4: 39,450,938 (GRCm39) |
H48L |
probably damaging |
Het |
| Aifm3 |
A |
G |
16: 17,318,653 (GRCm39) |
I185V |
probably benign |
Het |
| Asb7 |
A |
T |
7: 66,309,984 (GRCm39) |
D77E |
probably damaging |
Het |
| Cacna1i |
T |
C |
15: 80,239,959 (GRCm39) |
I336T |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,323,333 (GRCm39) |
L1016* |
probably null |
Het |
| Cep63 |
C |
A |
9: 102,473,354 (GRCm39) |
M504I |
probably benign |
Het |
| Chpf2 |
G |
T |
5: 24,794,524 (GRCm39) |
L231F |
probably damaging |
Het |
| Cnot10 |
T |
C |
9: 114,454,970 (GRCm39) |
Y221C |
probably damaging |
Het |
| Col3a1 |
G |
A |
1: 45,381,365 (GRCm39) |
|
probably benign |
Het |
| Csl |
T |
C |
10: 99,594,960 (GRCm39) |
D35G |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,539,875 (GRCm39) |
Y2286C |
probably damaging |
Het |
| Dbt |
A |
G |
3: 116,333,409 (GRCm39) |
E293G |
possibly damaging |
Het |
| Ddx31 |
T |
A |
2: 28,737,525 (GRCm39) |
|
probably null |
Het |
| Dnm1 |
T |
C |
2: 32,199,603 (GRCm39) |
|
probably benign |
Het |
| Elfn1 |
A |
G |
5: 139,958,040 (GRCm39) |
Y348C |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,254,569 (GRCm39) |
I657F |
probably damaging |
Het |
| Fbp1 |
A |
G |
13: 63,012,824 (GRCm39) |
F123S |
possibly damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,229,481 (GRCm39) |
N732S |
probably damaging |
Het |
| Itfg1 |
A |
G |
8: 86,462,780 (GRCm39) |
S448P |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,945,663 (GRCm39) |
R795G |
probably benign |
Het |
| Izumo2 |
A |
G |
7: 44,358,498 (GRCm39) |
K84R |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,773,308 (GRCm39) |
L5489P |
probably damaging |
Het |
| Mettl2 |
G |
A |
11: 105,023,407 (GRCm39) |
|
probably null |
Het |
| Mtr |
T |
C |
13: 12,231,752 (GRCm39) |
T651A |
probably benign |
Het |
| Naglu |
A |
G |
11: 100,968,177 (GRCm39) |
|
probably null |
Het |
| Nkx6-1 |
G |
T |
5: 101,807,342 (GRCm39) |
H347N |
probably damaging |
Het |
| Ntpcr |
A |
G |
8: 126,462,843 (GRCm39) |
E20G |
probably benign |
Het |
| Oas2 |
T |
C |
5: 120,873,046 (GRCm39) |
R670G |
probably null |
Het |
| Or10h1 |
G |
A |
17: 33,418,612 (GRCm39) |
V197I |
probably benign |
Het |
| Or2ag16 |
C |
G |
7: 106,352,008 (GRCm39) |
E196Q |
probably benign |
Het |
| Or4p8 |
T |
C |
2: 88,727,462 (GRCm39) |
I160V |
probably benign |
Het |
| Phldb2 |
A |
C |
16: 45,595,356 (GRCm39) |
V902G |
probably benign |
Het |
| Rdh7 |
T |
C |
10: 127,721,650 (GRCm39) |
R209G |
probably benign |
Het |
| Slc13a3 |
A |
C |
2: 165,287,573 (GRCm39) |
L127R |
probably damaging |
Het |
| Slc6a20b |
T |
A |
9: 123,434,014 (GRCm39) |
I275F |
possibly damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tmx4 |
T |
C |
2: 134,462,559 (GRCm39) |
Y124C |
probably damaging |
Het |
| Trh |
A |
T |
6: 92,219,824 (GRCm39) |
M164K |
possibly damaging |
Het |
| Trhr |
A |
G |
15: 44,060,981 (GRCm39) |
N167S |
probably benign |
Het |
| Ttll7 |
G |
A |
3: 146,637,337 (GRCm39) |
R490Q |
possibly damaging |
Het |
| Uck1 |
T |
C |
2: 32,148,667 (GRCm39) |
N100S |
probably benign |
Het |
| Ucp3 |
A |
T |
7: 100,129,476 (GRCm39) |
T104S |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,489,435 (GRCm39) |
H468L |
probably benign |
Het |
| Xaf1 |
G |
A |
11: 72,199,464 (GRCm39) |
R67H |
probably benign |
Het |
| Ypel4 |
T |
C |
2: 84,567,087 (GRCm39) |
|
probably benign |
Het |
| Zfp687 |
A |
G |
3: 94,918,095 (GRCm39) |
I559T |
probably damaging |
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 |
|
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 |
|
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'- CCTGATAAGTTATGTTGCCAGAGG -3'
(R):5'- CCATTATTATAGCATGCTCAGGGG -3'
Sequencing Primer
(F):5'- GTTGCCAGAGGTCAAATTAAATCTG -3'
(R):5'- TATAGCATGCTCAGGGGGCAATG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation