Incidental Mutation 'IGL00597:Kcnip1'
| ID |
332760 |
| 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 # |
IGL00597
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
33579339-33943152 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 33593289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065970]
[ENSMUST00000101368]
[ENSMUST00000109340]
|
| AlphaFold |
Q9JJ57 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065970
|
| SMART Domains |
Protein: ENSMUSP00000069063
Gene: ENSMUSG00000053519
| 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
|
| SMART Domains |
Protein: ENSMUSP00000098919
Gene: ENSMUSG00000053519
| 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: ENSMUST00000109340
|
| SMART Domains |
Protein: ENSMUSP00000104964
Gene: ENSMUSG00000053519
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154760
|
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bdkrb1 |
A |
T |
12: 105,571,210 (GRCm39) |
I259F |
probably damaging |
Het |
| Chac1 |
A |
G |
2: 119,184,040 (GRCm39) |
Y214C |
probably benign |
Het |
| Ctnnd2 |
A |
C |
15: 30,647,287 (GRCm39) |
T328P |
possibly damaging |
Het |
| Gart |
A |
G |
16: 91,435,677 (GRCm39) |
S179P |
possibly damaging |
Het |
| Gbp9 |
A |
G |
5: 105,242,364 (GRCm39) |
V125A |
probably damaging |
Het |
| Gpc6 |
T |
A |
14: 118,188,646 (GRCm39) |
S427T |
probably benign |
Het |
| Ifna7 |
A |
T |
4: 88,734,675 (GRCm39) |
I71F |
probably benign |
Het |
| Krt86 |
A |
G |
15: 101,374,107 (GRCm39) |
K222R |
probably benign |
Het |
| Nacad |
G |
A |
11: 6,550,921 (GRCm39) |
P757S |
probably benign |
Het |
| Obox7 |
C |
A |
7: 14,397,957 (GRCm39) |
|
probably benign |
Het |
| Pam |
T |
A |
1: 97,762,169 (GRCm39) |
T805S |
probably benign |
Het |
| Pgam2 |
G |
A |
11: 5,753,442 (GRCm39) |
R83C |
probably damaging |
Het |
| Prtg |
T |
A |
9: 72,716,926 (GRCm39) |
I89N |
probably damaging |
Het |
| Rpusd4 |
T |
A |
9: 35,179,738 (GRCm39) |
V77E |
probably benign |
Het |
| Sirpb1a |
T |
C |
3: 15,481,977 (GRCm39) |
Y50C |
probably damaging |
Het |
| Whamm |
T |
C |
7: 81,228,014 (GRCm39) |
V87A |
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 |
|
|
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 |
|
IGL01409:Kcnip1
|
APN |
11 |
33,580,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2015-08-05 |
Incidental Mutation