Incidental Mutation 'IGL01409:Kcnip1'
| ID |
79919 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnip1
|
| Ensembl Gene |
ENSMUSG00000053519 |
| Gene Name |
Kv channel-interacting protein 1 |
| Synonyms |
KCHIP1, 3202002F18Rik, 2900046L02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
IGL01409
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
33579339-33943152 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 33580593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 214
(D214E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065970]
[ENSMUST00000101368]
[ENSMUST00000101371]
[ENSMUST00000109340]
|
| AlphaFold |
Q9JJ57 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065970
AA Change: D203E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000069063
Gene: ENSMUSG00000053519
AA Change: D203E
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
90 |
118 |
2.24e1 |
SMART |
|
EFh
|
126 |
154 |
8.77e-7 |
SMART |
|
EFh
|
174 |
202 |
2.83e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101368
AA Change: D175E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000098919
Gene: ENSMUSG00000053519
AA Change: D175E
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
62 |
90 |
2.24e1 |
SMART |
|
EFh
|
98 |
126 |
8.77e-7 |
SMART |
|
EFh
|
146 |
174 |
2.83e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101371
|
| SMART Domains |
Protein: ENSMUSP00000098922
Gene: ENSMUSG00000073052
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
20 |
28 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
36 |
101 |
5.51e-11 |
PROSPERO |
|
internal_repeat_1
|
68 |
122 |
4.83e-23 |
PROSPERO |
|
internal_repeat_2
|
99 |
175 |
5.51e-11 |
PROSPERO |
|
internal_repeat_1
|
122 |
176 |
4.83e-23 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109340
AA Change: D214E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104964
Gene: ENSMUSG00000053519
AA Change: D214E
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
101 |
129 |
2.24e1 |
SMART |
|
EFh
|
137 |
165 |
8.77e-7 |
SMART |
|
EFh
|
185 |
213 |
2.83e-1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increase susceptibility to pentylenetetrazole-induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
C |
T |
10: 85,494,029 (GRCm39) |
A1049V |
possibly damaging |
Het |
| Arhgap26 |
C |
T |
18: 39,243,504 (GRCm39) |
|
probably benign |
Het |
| Asxl1 |
T |
C |
2: 153,234,860 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
T |
9: 53,410,471 (GRCm39) |
V1037E |
probably benign |
Het |
| Bmp6 |
A |
G |
13: 38,669,865 (GRCm39) |
N383S |
probably damaging |
Het |
| Btf3l4 |
A |
C |
4: 108,676,394 (GRCm39) |
S103R |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,587,440 (GRCm39) |
D321G |
probably damaging |
Het |
| Col24a1 |
G |
A |
3: 145,244,319 (GRCm39) |
S1531N |
probably benign |
Het |
| Cpb1 |
T |
A |
3: 20,303,969 (GRCm39) |
Y365F |
possibly damaging |
Het |
| Dpp6 |
T |
C |
5: 27,762,599 (GRCm39) |
Y238H |
probably damaging |
Het |
| Epha6 |
G |
A |
16: 59,476,100 (GRCm39) |
R1089* |
probably null |
Het |
| Fga |
T |
C |
3: 82,940,059 (GRCm39) |
F571S |
probably damaging |
Het |
| Focad |
A |
G |
4: 88,260,542 (GRCm39) |
T933A |
unknown |
Het |
| Gm57858 |
T |
A |
3: 36,080,077 (GRCm39) |
M227L |
possibly damaging |
Het |
| Gria2 |
A |
G |
3: 80,615,004 (GRCm39) |
|
probably null |
Het |
| Hnrnpul1 |
T |
C |
7: 25,424,077 (GRCm39) |
N725S |
unknown |
Het |
| Ik |
A |
T |
18: 36,889,974 (GRCm39) |
K534N |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,196,525 (GRCm39) |
T631A |
probably benign |
Het |
| Kcnk10 |
A |
T |
12: 98,456,322 (GRCm39) |
Y170N |
probably damaging |
Het |
| Lalba |
A |
G |
15: 98,379,948 (GRCm39) |
|
probably null |
Het |
| Ly75 |
A |
T |
2: 60,152,036 (GRCm39) |
|
probably null |
Het |
| Myh10 |
T |
C |
11: 68,698,045 (GRCm39) |
L1629P |
probably damaging |
Het |
| Myo15b |
C |
A |
11: 115,760,330 (GRCm39) |
C1127* |
probably null |
Het |
| Neurl4 |
T |
G |
11: 69,797,925 (GRCm39) |
N728K |
probably damaging |
Het |
| Nrxn3 |
T |
A |
12: 89,477,128 (GRCm39) |
F801Y |
probably damaging |
Het |
| Nup214 |
G |
T |
2: 31,916,943 (GRCm39) |
|
probably null |
Het |
| Obscn |
G |
A |
11: 58,921,884 (GRCm39) |
R6624C |
probably damaging |
Het |
| Or2g1 |
T |
C |
17: 38,106,413 (GRCm39) |
F26S |
probably damaging |
Het |
| Pdk1 |
A |
G |
2: 71,726,123 (GRCm39) |
T344A |
probably benign |
Het |
| Pitx2 |
C |
A |
3: 129,008,413 (GRCm39) |
S63Y |
probably damaging |
Het |
| Ppara |
A |
C |
15: 85,661,844 (GRCm39) |
L28F |
probably damaging |
Het |
| Rad54l |
G |
A |
4: 115,963,074 (GRCm39) |
T308I |
probably damaging |
Het |
| Sbds |
T |
C |
5: 130,282,907 (GRCm39) |
E7G |
probably damaging |
Het |
| Slc22a19 |
T |
C |
19: 7,688,495 (GRCm39) |
I22V |
probably benign |
Het |
| Slfn10-ps |
T |
C |
11: 82,926,322 (GRCm39) |
|
noncoding transcript |
Het |
| Spag4 |
T |
C |
2: 155,911,252 (GRCm39) |
S396P |
possibly damaging |
Het |
| Spef2 |
C |
A |
15: 9,716,499 (GRCm39) |
L362F |
probably damaging |
Het |
| Srebf2 |
A |
G |
15: 82,055,419 (GRCm39) |
T208A |
probably damaging |
Het |
| Ssc5d |
A |
G |
7: 4,945,808 (GRCm39) |
T947A |
probably benign |
Het |
| Tdp1 |
T |
C |
12: 99,875,940 (GRCm39) |
I297T |
possibly damaging |
Het |
| Tent5c |
A |
T |
3: 100,380,485 (GRCm39) |
D90E |
probably damaging |
Het |
| Tsen2 |
T |
C |
6: 115,536,555 (GRCm39) |
Y104H |
possibly damaging |
Het |
| Was |
G |
A |
X: 7,954,055 (GRCm39) |
R229C |
probably damaging |
Het |
|
| Other mutations in Kcnip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00597:Kcnip1
|
APN |
11 |
33,593,294 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00597:Kcnip1
|
APN |
11 |
33,593,289 (GRCm39) |
splice site |
probably benign |
|
|
IGL01064:Kcnip1
|
APN |
11 |
33,583,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01125:Kcnip1
|
APN |
11 |
33,583,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01324:Kcnip1
|
APN |
11 |
33,595,603 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
IGL02622:Kcnip1
|
APN |
11 |
33,593,290 (GRCm39) |
splice site |
probably benign |
|
|
R0149:Kcnip1
|
UTSW |
11 |
33,793,177 (GRCm39) |
missense |
probably benign |
|
|
R0319:Kcnip1
|
UTSW |
11 |
33,601,529 (GRCm39) |
splice site |
probably benign |
|
|
R0361:Kcnip1
|
UTSW |
11 |
33,793,177 (GRCm39) |
missense |
probably benign |
|
|
R1314:Kcnip1
|
UTSW |
11 |
33,592,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3420:Kcnip1
|
UTSW |
11 |
33,595,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3421:Kcnip1
|
UTSW |
11 |
33,595,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3422:Kcnip1
|
UTSW |
11 |
33,595,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4631:Kcnip1
|
UTSW |
11 |
33,942,821 (GRCm39) |
exon |
noncoding transcript |
|
|
R4843:Kcnip1
|
UTSW |
11 |
33,594,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5007:Kcnip1
|
UTSW |
11 |
33,592,495 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5337:Kcnip1
|
UTSW |
11 |
33,592,389 (GRCm39) |
intron |
probably benign |
|
|
R5596:Kcnip1
|
UTSW |
11 |
33,580,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6058:Kcnip1
|
UTSW |
11 |
33,592,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6210:Kcnip1
|
UTSW |
11 |
33,595,600 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7086:Kcnip1
|
UTSW |
11 |
33,584,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7363:Kcnip1
|
UTSW |
11 |
33,584,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7881:Kcnip1
|
UTSW |
11 |
33,583,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9349:Kcnip1
|
UTSW |
11 |
33,601,548 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-11-05 |
Incidental Mutation