Incidental Mutation 'R7950:Kbtbd3'
ID |
649510 |
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 |
045995-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.153)
|
Stock # |
R7950 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
4309833-4331732 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 4316878 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 10
(Q10*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050183
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049648]
[ENSMUST00000212221]
|
AlphaFold |
Q8BHI4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000049648
AA Change: Q10*
|
SMART Domains |
Protein: ENSMUSP00000050183 Gene: ENSMUSG00000025893 AA Change: Q10*
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 null
Transcript: ENSMUST00000212221
AA Change: Q10*
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf5 |
G |
A |
17: 43,762,048 (GRCm39) |
V1248M |
probably damaging |
Het |
Alb |
T |
C |
5: 90,620,323 (GRCm39) |
S478P |
probably damaging |
Het |
Arhgap17 |
A |
G |
7: 122,886,039 (GRCm39) |
S698P |
probably benign |
Het |
Arhgef5 |
A |
G |
6: 43,250,859 (GRCm39) |
T537A |
possibly damaging |
Het |
Arl6 |
A |
T |
16: 59,439,094 (GRCm39) |
|
probably null |
Het |
Atp13a4 |
A |
T |
16: 29,268,735 (GRCm39) |
W540R |
|
Het |
Birc6 |
A |
T |
17: 74,900,095 (GRCm39) |
D1091V |
probably damaging |
Het |
Bnc1 |
A |
G |
7: 81,623,250 (GRCm39) |
V659A |
probably benign |
Het |
C130074G19Rik |
T |
C |
1: 184,606,571 (GRCm39) |
|
probably null |
Het |
C1ql4 |
T |
A |
15: 98,982,693 (GRCm39) |
H220L |
probably benign |
Het |
Cacna1s |
A |
G |
1: 136,028,363 (GRCm39) |
N1147S |
probably benign |
Het |
Cc2d2a |
T |
C |
5: 43,852,638 (GRCm39) |
|
probably null |
Het |
Ccl1 |
T |
A |
11: 82,070,519 (GRCm39) |
I18L |
probably benign |
Het |
Cfap410 |
C |
T |
10: 77,815,601 (GRCm39) |
T31I |
probably damaging |
Het |
Ecel1 |
A |
T |
1: 87,075,991 (GRCm39) |
Y729N |
probably damaging |
Het |
Epha4 |
T |
A |
1: 77,483,833 (GRCm39) |
I59F |
probably damaging |
Het |
Filip1l |
A |
G |
16: 57,390,074 (GRCm39) |
K221E |
probably damaging |
Het |
Flnc |
A |
G |
6: 29,456,381 (GRCm39) |
E2193G |
possibly damaging |
Het |
Galnt10 |
C |
G |
11: 57,674,549 (GRCm39) |
P513A |
probably damaging |
Het |
Gm5624 |
A |
G |
14: 44,798,190 (GRCm39) |
Y139H |
|
Het |
Golgb1 |
A |
C |
16: 36,735,786 (GRCm39) |
I1719L |
probably benign |
Het |
Hsf1 |
T |
C |
15: 76,382,393 (GRCm39) |
S255P |
probably benign |
Het |
Ighv2-2 |
T |
C |
12: 113,551,914 (GRCm39) |
D108G |
probably damaging |
Het |
Iho1 |
T |
C |
9: 108,282,870 (GRCm39) |
T273A |
probably benign |
Het |
Kcnh2 |
C |
T |
5: 24,538,034 (GRCm39) |
V110M |
probably benign |
Het |
Magi3 |
A |
C |
3: 103,924,005 (GRCm39) |
L1112W |
probably damaging |
Het |
Malrd1 |
T |
A |
2: 16,132,879 (GRCm39) |
D1933E |
unknown |
Het |
Mki67 |
G |
A |
7: 135,301,453 (GRCm39) |
R1194* |
probably null |
Het |
Nap1l1 |
T |
C |
10: 111,328,769 (GRCm39) |
Y233H |
probably damaging |
Het |
Napsa |
A |
G |
7: 44,234,758 (GRCm39) |
I298V |
probably benign |
Het |
Nkx6-1 |
A |
T |
5: 101,811,465 (GRCm39) |
S212R |
probably damaging |
Het |
Nlrc4 |
A |
T |
17: 74,752,610 (GRCm39) |
I591N |
probably damaging |
Het |
Or5b114-ps1 |
T |
C |
19: 13,352,431 (GRCm39) |
I35T |
possibly damaging |
Het |
Orc2 |
T |
C |
1: 58,506,827 (GRCm39) |
D503G |
possibly damaging |
Het |
Osbp |
T |
A |
19: 11,955,612 (GRCm39) |
S343T |
probably benign |
Het |
Pcdha6 |
T |
G |
18: 37,102,479 (GRCm39) |
D557E |
probably damaging |
Het |
Pdcd11 |
AGAGGAGGAGGAGGAGGAGGAGGAG |
AGAGGAGGAGGAGGAGGAGGAG |
19: 47,101,876 (GRCm39) |
|
probably benign |
Het |
Ppdpf |
A |
G |
2: 180,829,650 (GRCm39) |
Y35C |
probably benign |
Het |
Scrn2 |
T |
A |
11: 96,921,755 (GRCm39) |
L75Q |
probably damaging |
Het |
Scube3 |
G |
A |
17: 28,390,200 (GRCm39) |
V955I |
probably benign |
Het |
Slc1a1 |
T |
C |
19: 28,889,161 (GRCm39) |
V478A |
probably benign |
Het |
Slc4a4 |
A |
G |
5: 89,206,137 (GRCm39) |
|
probably null |
Het |
Srrm2 |
T |
C |
17: 24,027,084 (GRCm39) |
L96P |
unknown |
Het |
Strn |
A |
T |
17: 78,977,852 (GRCm39) |
L175Q |
|
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 |
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 |
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'- TCTCCCACTTCATATGGGGC -3'
(R):5'- ACCATTATTATAGCATGCTCAGGGG -3'
Sequencing Primer
(F):5'- ACTTCATATGGGGCCACCG -3'
(R):5'- GTACCTGAAAAAGTCACTGCATG -3'
|
Posted On |
2020-09-15 |