Incidental Mutation 'IGL01064:Kcnip1'
| ID |
52199 |
| 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 # |
IGL01064
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
33579339-33943152 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 33583192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 198
(D198N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065970]
[ENSMUST00000101368]
[ENSMUST00000109340]
|
| AlphaFold |
Q9JJ57 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065970
AA Change: D187N
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000069063
Gene: ENSMUSG00000053519
AA Change: D187N
| 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 damaging
Transcript: ENSMUST00000101368
AA Change: D159N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098919
Gene: ENSMUSG00000053519
AA Change: D159N
| 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 damaging
Transcript: ENSMUST00000109340
AA Change: D198N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104964
Gene: ENSMUSG00000053519
AA Change: D198N
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,433,855 (GRCm39) |
T4137S |
probably benign |
Het |
| Abcb1a |
T |
C |
5: 8,782,388 (GRCm39) |
Y924H |
possibly damaging |
Het |
| Ash1l |
T |
G |
3: 88,979,791 (GRCm39) |
C2772G |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cpne6 |
T |
C |
14: 55,750,187 (GRCm39) |
F106S |
probably damaging |
Het |
| Cysltr1 |
A |
T |
X: 105,622,342 (GRCm39) |
I48N |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,473,263 (GRCm39) |
I779F |
probably damaging |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,779 (GRCm39) |
L262H |
probably damaging |
Het |
| Gart |
G |
A |
16: 91,419,895 (GRCm39) |
R871C |
probably damaging |
Het |
| Get4 |
C |
T |
5: 139,238,277 (GRCm39) |
R20C |
probably damaging |
Het |
| Gm13030 |
G |
A |
4: 138,600,869 (GRCm39) |
|
probably benign |
Het |
| Gm17654 |
A |
T |
14: 43,816,455 (GRCm39) |
H49Q |
unknown |
Het |
| Gpnmb |
A |
G |
6: 49,032,593 (GRCm39) |
I506V |
probably benign |
Het |
| Ist1 |
T |
C |
8: 110,409,243 (GRCm39) |
I86V |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,584,828 (GRCm39) |
I184V |
possibly damaging |
Het |
| Mink1 |
A |
T |
11: 70,494,307 (GRCm39) |
M236L |
probably benign |
Het |
| Muc5ac |
A |
T |
7: 141,361,210 (GRCm39) |
N1507I |
probably benign |
Het |
| Nrxn2 |
G |
T |
19: 6,567,083 (GRCm39) |
E1326D |
probably damaging |
Het |
| Or10ak8 |
A |
T |
4: 118,774,091 (GRCm39) |
M191K |
possibly damaging |
Het |
| Or51q1 |
A |
T |
7: 103,628,999 (GRCm39) |
Y200F |
probably benign |
Het |
| Or5b3 |
T |
C |
19: 13,388,590 (GRCm39) |
I219T |
probably benign |
Het |
| Patj |
T |
C |
4: 98,385,210 (GRCm39) |
S326P |
possibly damaging |
Het |
| Pdha2 |
T |
C |
3: 140,916,776 (GRCm39) |
H244R |
possibly damaging |
Het |
| Pgap4 |
C |
T |
4: 49,586,860 (GRCm39) |
V103M |
possibly damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,604,754 (GRCm39) |
|
probably benign |
Het |
| Ptk7 |
A |
T |
17: 46,884,492 (GRCm39) |
L746* |
probably null |
Het |
| Rad54b |
G |
A |
4: 11,604,866 (GRCm39) |
G438D |
probably damaging |
Het |
| Rbm27 |
T |
C |
18: 42,452,879 (GRCm39) |
V536A |
possibly damaging |
Het |
| Rundc3b |
T |
A |
5: 8,619,553 (GRCm39) |
M135L |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,222,696 (GRCm39) |
Y353C |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,159,064 (GRCm39) |
|
probably benign |
Het |
| Sytl5 |
A |
G |
X: 9,771,834 (GRCm39) |
H66R |
probably benign |
Het |
| Tlr7 |
T |
A |
X: 166,091,207 (GRCm39) |
E93V |
probably damaging |
Het |
| Tmem156 |
A |
G |
5: 65,237,327 (GRCm39) |
L76S |
probably damaging |
Het |
| Tomm70a |
T |
C |
16: 56,972,975 (GRCm39) |
F571S |
probably damaging |
Het |
| Trmt10b |
A |
G |
4: 45,314,347 (GRCm39) |
Y261C |
possibly 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 |
|
|
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 |
2013-06-21 |
Incidental Mutation