Incidental Mutation 'IGL01125:Kcnip1'
ID |
52346 |
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 # |
IGL01125
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
33579339-33943152 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 33583202 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 194
(D194E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104964
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065970]
[ENSMUST00000101368]
[ENSMUST00000109340]
|
AlphaFold |
Q9JJ57 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065970
AA Change: D183E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000069063 Gene: ENSMUSG00000053519 AA Change: D183E
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: D155E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098919 Gene: ENSMUSG00000053519 AA Change: D155E
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: D194E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104964 Gene: ENSMUSG00000053519 AA Change: D194E
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg2 |
C |
T |
X: 159,275,704 (GRCm39) |
T931I |
probably damaging |
Het |
Atp5mc3 |
A |
G |
2: 73,741,293 (GRCm39) |
|
probably benign |
Het |
Btd |
T |
A |
14: 31,389,733 (GRCm39) |
F485I |
probably benign |
Het |
Camk2d |
A |
G |
3: 126,591,934 (GRCm39) |
|
probably benign |
Het |
Cd300lg |
A |
T |
11: 101,945,047 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
A |
G |
1: 24,263,726 (GRCm39) |
|
probably null |
Het |
Cybb |
T |
A |
X: 9,312,983 (GRCm39) |
N367I |
possibly damaging |
Het |
Dcaf17 |
T |
C |
2: 70,920,149 (GRCm39) |
V479A |
probably benign |
Het |
Dscaml1 |
G |
T |
9: 45,660,930 (GRCm39) |
|
probably null |
Het |
Espl1 |
T |
C |
15: 102,231,373 (GRCm39) |
F51S |
probably damaging |
Het |
Gsdmc3 |
T |
A |
15: 63,733,306 (GRCm39) |
D258V |
probably benign |
Het |
Gvin-ps3 |
A |
T |
7: 105,682,021 (GRCm39) |
N411K |
unknown |
Het |
Ifngr1 |
C |
T |
10: 19,473,161 (GRCm39) |
|
probably benign |
Het |
Lrrtm1 |
C |
T |
6: 77,221,436 (GRCm39) |
R298C |
probably damaging |
Het |
Map3k4 |
G |
A |
17: 12,490,849 (GRCm39) |
S194L |
probably damaging |
Het |
Mmp16 |
A |
G |
4: 18,112,066 (GRCm39) |
K481E |
possibly damaging |
Het |
Myh1 |
A |
T |
11: 67,111,486 (GRCm39) |
M1642L |
probably benign |
Het |
Nol9 |
G |
T |
4: 152,131,066 (GRCm39) |
C363F |
probably damaging |
Het |
Nsd1 |
T |
C |
13: 55,393,430 (GRCm39) |
S344P |
probably damaging |
Het |
Or52e5 |
A |
T |
7: 104,718,808 (GRCm39) |
I45F |
probably benign |
Het |
Phf20 |
G |
A |
2: 156,145,104 (GRCm39) |
|
probably null |
Het |
Ppp3cc |
G |
T |
14: 70,455,701 (GRCm39) |
H467Q |
probably damaging |
Het |
Rab28 |
A |
G |
5: 41,793,237 (GRCm39) |
M136T |
probably benign |
Het |
Rag1 |
A |
G |
2: 101,472,346 (GRCm39) |
I932T |
probably damaging |
Het |
Sez6 |
T |
C |
11: 77,868,115 (GRCm39) |
|
probably benign |
Het |
Slc49a3 |
A |
G |
5: 108,592,458 (GRCm39) |
|
probably benign |
Het |
Sorcs1 |
T |
C |
19: 50,216,639 (GRCm39) |
T647A |
probably damaging |
Het |
Sspo |
T |
A |
6: 48,469,822 (GRCm39) |
C4507S |
probably damaging |
Het |
Traf3ip3 |
T |
C |
1: 192,866,772 (GRCm39) |
|
probably null |
Het |
Vmn2r121 |
T |
A |
X: 123,042,504 (GRCm39) |
I218F |
probably damaging |
Het |
Vmn2r61 |
A |
G |
7: 41,909,550 (GRCm39) |
Y25C |
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 |
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 |