Incidental Mutation 'IGL00806:Kctd4'
| ID |
13569 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kctd4
|
| Ensembl Gene |
ENSMUSG00000046523 |
| Gene Name |
potassium channel tetramerisation domain containing 4 |
| Synonyms |
2210017A09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
IGL00806
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
76192443-76202657 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76200448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 140
(T140S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050120]
[ENSMUST00000088922]
|
| AlphaFold |
Q9D7X1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050120
AA Change: T140S
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000061734
Gene: ENSMUSG00000046523
AA Change: T140S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
BTB
|
33 |
134 |
2.3e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088922
|
| SMART Domains |
Protein: ENSMUSP00000086312
Gene: ENSMUSG00000067995
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TFIIF_beta
|
7 |
105 |
6.7e-19 |
PFAM |
|
Pfam:TFIIF_beta
|
99 |
240 |
1e-44 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
A |
C |
8: 43,974,379 (GRCm39) |
Y208D |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,918,524 (GRCm39) |
V18D |
possibly damaging |
Het |
| Copb2 |
T |
C |
9: 98,452,717 (GRCm39) |
C104R |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,271,647 (GRCm39) |
E76G |
probably benign |
Het |
| Flrt2 |
T |
C |
12: 95,747,303 (GRCm39) |
I547T |
probably damaging |
Het |
| Golga1 |
A |
T |
2: 38,942,985 (GRCm39) |
L95* |
probably null |
Het |
| Itga8 |
G |
A |
2: 12,260,777 (GRCm39) |
Q224* |
probably null |
Het |
| Kcnt2 |
T |
C |
1: 140,450,949 (GRCm39) |
Y693H |
probably damaging |
Het |
| Lpl |
T |
C |
8: 69,355,018 (GRCm39) |
S469P |
probably benign |
Het |
| Naf1 |
A |
G |
8: 67,338,452 (GRCm39) |
Q406R |
probably damaging |
Het |
| Pdgfd |
A |
G |
9: 6,288,667 (GRCm39) |
D107G |
probably benign |
Het |
| Rell1 |
T |
C |
5: 64,095,157 (GRCm39) |
E103G |
probably damaging |
Het |
| Rrm2b |
C |
T |
15: 37,931,866 (GRCm39) |
D45N |
probably benign |
Het |
| Setx |
A |
G |
2: 29,017,038 (GRCm39) |
Y47C |
probably damaging |
Het |
| Snx1 |
A |
T |
9: 65,996,867 (GRCm39) |
Y462* |
probably null |
Het |
| Tek |
A |
T |
4: 94,686,956 (GRCm39) |
N158I |
probably damaging |
Het |
|
| Other mutations in Kctd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00955:Kctd4
|
APN |
14 |
76,200,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03123:Kctd4
|
APN |
14 |
76,200,418 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
wellwater
|
UTSW |
14 |
76,200,037 (GRCm39) |
intron |
probably benign |
|
|
R1526:Kctd4
|
UTSW |
14 |
76,200,523 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3780:Kctd4
|
UTSW |
14 |
76,200,251 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3803:Kctd4
|
UTSW |
14 |
76,200,726 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4821:Kctd4
|
UTSW |
14 |
76,200,217 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5192:Kctd4
|
UTSW |
14 |
76,200,127 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5196:Kctd4
|
UTSW |
14 |
76,200,127 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5366:Kctd4
|
UTSW |
14 |
76,200,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6328:Kctd4
|
UTSW |
14 |
76,200,037 (GRCm39) |
intron |
probably benign |
|
|
R6818:Kctd4
|
UTSW |
14 |
76,200,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8713:Kctd4
|
UTSW |
14 |
76,200,366 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8866:Kctd4
|
UTSW |
14 |
76,200,465 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0063:Kctd4
|
UTSW |
14 |
76,200,443 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Posted On |
2012-12-06 |
Incidental Mutation