Incidental Mutation 'R6546:Kbtbd4'
| ID |
521170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kbtbd4
|
| Ensembl Gene |
ENSMUSG00000005505 |
| Gene Name |
kelch repeat and BTB (POZ) domain containing 4 |
| Synonyms |
2510026C23Rik |
| MMRRC Submission |
045325-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.517)
|
| Stock # |
R6546 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
90735113-90740905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90739635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 340
(V340E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005647]
[ENSMUST00000090682]
[ENSMUST00000111464]
|
| AlphaFold |
Q8R179 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005647
|
| SMART Domains |
Protein: ENSMUSP00000005647
Gene: ENSMUSG00000005510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_30kDa
|
85 |
207 |
1.9e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000077874
|
| SMART Domains |
Protein: ENSMUSP00000077036
Gene: ENSMUSG00000063235
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc_DSPc
|
118 |
252 |
9.8e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090682
AA Change: V324E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088179
Gene: ENSMUSG00000005505
AA Change: V324E
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
45 |
142 |
1.43e-25 |
SMART |
|
BACK
|
147 |
239 |
6.08e-10 |
SMART |
|
SCOP:d1k3ia3
|
279 |
467 |
8e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000111461
|
| SMART Domains |
Protein: ENSMUSP00000107087
Gene: ENSMUSG00000063235
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
81 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
133 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111464
AA Change: V340E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107089
Gene: ENSMUSG00000005505
AA Change: V340E
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
61 |
158 |
1.43e-25 |
SMART |
|
BACK
|
163 |
255 |
6.08e-10 |
SMART |
|
SCOP:d1k3ia3
|
295 |
483 |
9e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125001
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152059
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140945
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155621
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155372
|
| Meta Mutation Damage Score |
0.7800 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
T |
A |
6: 34,776,234 (GRCm39) |
L242M |
probably damaging |
Het |
| Atad2b |
A |
T |
12: 5,040,949 (GRCm39) |
H206L |
probably damaging |
Het |
| Bmp2k |
A |
G |
5: 97,235,937 (GRCm39) |
Q1120R |
probably benign |
Het |
| Cdk18 |
G |
A |
1: 132,050,088 (GRCm39) |
T29I |
probably damaging |
Het |
| Chrna3 |
T |
A |
9: 54,923,185 (GRCm39) |
I208F |
probably damaging |
Het |
| Dhrs1 |
G |
A |
14: 55,978,729 (GRCm39) |
P140S |
possibly damaging |
Het |
| Dnah14 |
C |
T |
1: 181,566,552 (GRCm39) |
R2775C |
probably damaging |
Het |
| Fnip1 |
T |
G |
11: 54,393,437 (GRCm39) |
N600K |
probably benign |
Het |
| Garin5b |
T |
C |
7: 4,761,464 (GRCm39) |
D416G |
probably benign |
Het |
| Jmjd6 |
T |
C |
11: 116,733,326 (GRCm39) |
Y117C |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,755,871 (GRCm39) |
V1995A |
probably damaging |
Het |
| Krt10 |
T |
C |
11: 99,278,221 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,326,074 (GRCm39) |
D3022G |
probably benign |
Het |
| Map3k13 |
C |
T |
16: 21,740,527 (GRCm39) |
T618I |
probably benign |
Het |
| Mat1a |
G |
A |
14: 40,843,379 (GRCm39) |
V302M |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,859,539 (GRCm39) |
F242S |
probably damaging |
Het |
| Npffr2 |
A |
T |
5: 89,730,871 (GRCm39) |
K267M |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,460,672 (GRCm39) |
|
probably null |
Het |
| Papss2 |
A |
G |
19: 32,640,548 (GRCm39) |
Y440C |
possibly damaging |
Het |
| Ppil4 |
T |
A |
10: 7,674,186 (GRCm39) |
I110N |
probably damaging |
Het |
| Qrfpr |
G |
A |
3: 36,234,414 (GRCm39) |
T309I |
probably damaging |
Het |
| Rbl2 |
C |
A |
8: 91,796,998 (GRCm39) |
S65R |
probably benign |
Het |
| Rchy1 |
G |
A |
5: 92,105,817 (GRCm39) |
H44Y |
probably damaging |
Het |
| Slc19a3 |
T |
C |
1: 83,004,081 (GRCm39) |
T7A |
probably benign |
Het |
| St7 |
C |
T |
6: 17,852,313 (GRCm39) |
A233V |
probably damaging |
Het |
| Syn2 |
T |
A |
6: 115,258,059 (GRCm39) |
S546T |
probably benign |
Het |
| Syne1 |
A |
T |
10: 5,168,645 (GRCm39) |
Y5245* |
probably null |
Het |
| Trmt6 |
A |
G |
2: 132,654,073 (GRCm39) |
W52R |
probably benign |
Het |
| Ubr4 |
G |
A |
4: 139,141,705 (GRCm39) |
V1264M |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 120,970,960 (GRCm39) |
V1004D |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,169,369 (GRCm39) |
H587L |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,652,741 (GRCm39) |
R478G |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,731,748 (GRCm39) |
E669G |
probably benign |
Het |
|
| Other mutations in Kbtbd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01583:Kbtbd4
|
APN |
2 |
90,736,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0306:Kbtbd4
|
UTSW |
2 |
90,744,530 (GRCm39) |
unclassified |
probably benign |
|
|
R0533:Kbtbd4
|
UTSW |
2 |
90,737,948 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0666:Kbtbd4
|
UTSW |
2 |
90,744,459 (GRCm39) |
unclassified |
probably benign |
|
|
R1935:Kbtbd4
|
UTSW |
2 |
90,737,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4207:Kbtbd4
|
UTSW |
2 |
90,740,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5658:Kbtbd4
|
UTSW |
2 |
90,736,423 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5977:Kbtbd4
|
UTSW |
2 |
90,736,487 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6653:Kbtbd4
|
UTSW |
2 |
90,740,113 (GRCm39) |
nonsense |
probably null |
|
|
R6714:Kbtbd4
|
UTSW |
2 |
90,736,183 (GRCm39) |
unclassified |
probably benign |
|
|
R7690:Kbtbd4
|
UTSW |
2 |
90,736,240 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8090:Kbtbd4
|
UTSW |
2 |
90,736,183 (GRCm39) |
unclassified |
probably benign |
|
|
R9089:Kbtbd4
|
UTSW |
2 |
90,737,909 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCAAAACAGCTTATGCC -3'
(R):5'- CAAAGCACTGGATCAGTCGG -3'
Sequencing Primer
(F):5'- GCTTATGCCACCAAATCACTG -3'
(R):5'- CCCCAGTAAGTAGATGATTCCATTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation