Incidental Mutation 'IGL02617:Kctd13'
| ID |
300712 |
| 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 # |
IGL02617
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
126528051-126544781 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126541504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 248
(K248R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032924]
[ENSMUST00000052937]
[ENSMUST00000106339]
[ENSMUST00000106340]
|
| AlphaFold |
Q8BGV7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032924
AA Change: K248R
PolyPhen 2
Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000032924
Gene: ENSMUSG00000030685
AA Change: K248R
| 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: ENSMUST00000141369
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206197
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,394,807 (GRCm39) |
Q172* |
probably null |
Het |
| Adgrg5 |
A |
G |
8: 95,660,610 (GRCm39) |
D79G |
probably benign |
Het |
| Aga |
G |
A |
8: 53,973,348 (GRCm39) |
D249N |
possibly damaging |
Het |
| Aifm3 |
A |
G |
16: 17,318,397 (GRCm39) |
Q170R |
probably null |
Het |
| Cdh2 |
T |
A |
18: 16,760,661 (GRCm39) |
N512Y |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,472,648 (GRCm39) |
I385T |
probably benign |
Het |
| Clic6 |
A |
G |
16: 92,296,206 (GRCm39) |
K289E |
probably benign |
Het |
| Ctcf |
G |
T |
8: 106,403,842 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,488,628 (GRCm39) |
Y3447H |
probably benign |
Het |
| Fhip1a |
A |
T |
3: 85,580,344 (GRCm39) |
D620E |
probably benign |
Het |
| Fmo2 |
T |
A |
1: 162,704,490 (GRCm39) |
Q472L |
probably damaging |
Het |
| Gcnt3 |
C |
A |
9: 69,941,444 (GRCm39) |
G375W |
probably damaging |
Het |
| Golga3 |
T |
A |
5: 110,336,612 (GRCm39) |
V417E |
probably benign |
Het |
| Hivep3 |
T |
C |
4: 119,952,641 (GRCm39) |
L319P |
probably benign |
Het |
| Magel2 |
G |
A |
7: 62,029,946 (GRCm39) |
R950H |
unknown |
Het |
| Niban1 |
T |
A |
1: 151,447,296 (GRCm39) |
S6T |
probably benign |
Het |
| Nmt2 |
A |
G |
2: 3,315,750 (GRCm39) |
I247V |
probably benign |
Het |
| Or14a256 |
T |
G |
7: 86,264,872 (GRCm39) |
H327P |
probably benign |
Het |
| Or1e30 |
T |
A |
11: 73,678,560 (GRCm39) |
N265K |
probably benign |
Het |
| Pcdhb12 |
T |
C |
18: 37,570,099 (GRCm39) |
V415A |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Prr27 |
T |
A |
5: 87,990,518 (GRCm39) |
N43K |
probably benign |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,603,014 (GRCm39) |
|
probably null |
Het |
| Srek1ip1 |
C |
A |
13: 104,973,984 (GRCm39) |
H130Q |
possibly damaging |
Het |
| Trio |
C |
T |
15: 27,841,935 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,608,614 (GRCm39) |
|
probably benign |
Het |
| Vmn2r65 |
C |
A |
7: 84,589,549 (GRCm39) |
S789I |
probably damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,192,399 (GRCm39) |
Q448R |
probably damaging |
Het |
|
| Other mutations in Kctd13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02890:Kctd13
|
APN |
7 |
126,529,903 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03339:Kctd13
|
APN |
7 |
126,544,190 (GRCm39) |
missense |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation