Incidental Mutation 'IGL03339:Kctd13'
ID |
417162 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kctd13
|
Ensembl Gene |
ENSMUSG00000030685 |
Gene Name |
potassium channel tetramerisation domain containing 13 |
Synonyms |
Poldip1, 1500003N18Rik, Pdip1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03339
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
126528051-126544781 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 126544190 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 296
(D296G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032924
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032924]
[ENSMUST00000052937]
[ENSMUST00000106339]
[ENSMUST00000106340]
|
AlphaFold |
Q8BGV7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032924
AA Change: D296G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000032924 Gene: ENSMUSG00000030685 AA Change: D296G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
BTB
|
41 |
141 |
6.48e-15 |
SMART |
low complexity region
|
276 |
314 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000052937
|
SMART Domains |
Protein: ENSMUSP00000049848 Gene: ENSMUSG00000046378
Domain | Start | End | E-Value | Type |
Pfam:Asp_Arg_Hydrox
|
1 |
92 |
5.5e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106339
|
SMART Domains |
Protein: ENSMUSP00000101946 Gene: ENSMUSG00000046378
Domain | Start | End | E-Value | Type |
Pfam:Asp_Arg_Hydrox
|
1 |
92 |
5.5e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106340
|
SMART Domains |
Protein: ENSMUSP00000101947 Gene: ENSMUSG00000046378
Domain | Start | End | E-Value | Type |
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
low complexity region
|
115 |
128 |
N/A |
INTRINSIC |
low complexity region
|
138 |
153 |
N/A |
INTRINSIC |
low complexity region
|
157 |
170 |
N/A |
INTRINSIC |
Pfam:Asp_Arg_Hydrox
|
191 |
342 |
1.4e-41 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123117
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139233
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206197
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141369
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced synaptic transmission, abnormal hippocampal pyramidal neuron dendrite morphology, and hyperactivity with no detectable changes in body weight, brain size or neurogenesis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
A |
G |
2: 152,284,376 (GRCm39) |
E323G |
probably damaging |
Het |
A4gnt |
T |
C |
9: 99,502,601 (GRCm39) |
S254P |
probably damaging |
Het |
Actn4 |
A |
G |
7: 28,601,407 (GRCm39) |
L447P |
probably damaging |
Het |
Agbl2 |
C |
A |
2: 90,627,907 (GRCm39) |
S237R |
probably damaging |
Het |
Apc |
G |
A |
18: 34,431,527 (GRCm39) |
D309N |
probably damaging |
Het |
Arhgef3 |
A |
G |
14: 27,123,814 (GRCm39) |
M492V |
probably damaging |
Het |
Atp10b |
T |
A |
11: 43,121,442 (GRCm39) |
M1035K |
probably null |
Het |
Cfap69 |
T |
A |
5: 5,636,436 (GRCm39) |
|
probably benign |
Het |
Ctf1 |
A |
G |
7: 127,313,166 (GRCm39) |
N24S |
probably benign |
Het |
Cx3cr1 |
T |
A |
9: 119,880,503 (GRCm39) |
K300* |
probably null |
Het |
Ddx25 |
A |
T |
9: 35,453,299 (GRCm39) |
Y484N |
probably damaging |
Het |
Eif4g1 |
A |
G |
16: 20,499,734 (GRCm39) |
E506G |
possibly damaging |
Het |
Ficd |
G |
T |
5: 113,876,800 (GRCm39) |
R325L |
probably benign |
Het |
G6pc2 |
A |
G |
2: 69,051,239 (GRCm39) |
|
probably benign |
Het |
Gm11168 |
C |
A |
9: 3,004,767 (GRCm39) |
P103T |
probably benign |
Het |
Hbb-y |
A |
T |
7: 103,501,976 (GRCm39) |
H98Q |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,577,720 (GRCm39) |
S2014P |
probably benign |
Het |
Hoxc5 |
T |
C |
15: 102,922,568 (GRCm39) |
Y19H |
probably damaging |
Het |
Igfbpl1 |
A |
G |
4: 45,813,555 (GRCm39) |
|
probably benign |
Het |
Ighg2c |
A |
C |
12: 113,251,614 (GRCm39) |
V171G |
unknown |
Het |
Mfsd2b |
A |
C |
12: 4,924,335 (GRCm39) |
M1R |
probably null |
Het |
Nipbl |
A |
G |
15: 8,380,360 (GRCm39) |
S811P |
probably benign |
Het |
Or10al2 |
G |
A |
17: 37,983,448 (GRCm39) |
C178Y |
possibly damaging |
Het |
Or10al3 |
G |
T |
17: 38,011,682 (GRCm39) |
M40I |
probably damaging |
Het |
Or52r1 |
G |
A |
7: 102,536,989 (GRCm39) |
R124C |
probably benign |
Het |
Or5b122 |
T |
G |
19: 13,563,439 (GRCm39) |
M257R |
probably damaging |
Het |
Pcolce2 |
T |
C |
9: 95,560,393 (GRCm39) |
|
probably benign |
Het |
Pik3c2a |
G |
T |
7: 116,017,256 (GRCm39) |
T167K |
possibly damaging |
Het |
Ppp1r18 |
A |
G |
17: 36,178,938 (GRCm39) |
D271G |
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,333,830 (GRCm39) |
I3013T |
probably damaging |
Het |
Rock1 |
A |
T |
18: 10,097,493 (GRCm39) |
M765K |
probably benign |
Het |
Sec16a |
T |
C |
2: 26,325,945 (GRCm39) |
Y1244C |
probably benign |
Het |
Taar7d |
T |
C |
10: 23,903,204 (GRCm39) |
C29R |
possibly damaging |
Het |
Tlcd4 |
C |
T |
3: 121,022,489 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
C |
2: 76,572,264 (GRCm39) |
F26210V |
probably damaging |
Het |
Ube2b |
A |
T |
11: 51,877,534 (GRCm39) |
V145D |
probably damaging |
Het |
Vmn1r219 |
T |
G |
13: 23,347,580 (GRCm39) |
S256R |
possibly damaging |
Het |
|
Other mutations in Kctd13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02617:Kctd13
|
APN |
7 |
126,541,504 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02890:Kctd13
|
APN |
7 |
126,529,903 (GRCm39) |
missense |
probably benign |
0.01 |
R5322:Kctd13
|
UTSW |
7 |
126,528,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R6365:Kctd13
|
UTSW |
7 |
126,529,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R7585:Kctd13
|
UTSW |
7 |
126,528,458 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8036:Kctd13
|
UTSW |
7 |
126,528,414 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8846:Kctd13
|
UTSW |
7 |
126,544,191 (GRCm39) |
missense |
probably benign |
|
R9153:Kctd13
|
UTSW |
7 |
126,541,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R9311:Kctd13
|
UTSW |
7 |
126,541,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R9459:Kctd13
|
UTSW |
7 |
126,544,254 (GRCm39) |
missense |
probably damaging |
0.99 |
R9610:Kctd13
|
UTSW |
7 |
126,544,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R9611:Kctd13
|
UTSW |
7 |
126,544,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |