Incidental Mutation 'IGL01324:Kcnip1'
| ID |
74162 |
| 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 # |
IGL01324
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
33579339-33943152 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to G
at 33595603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065970]
[ENSMUST00000101368]
[ENSMUST00000109340]
|
| AlphaFold |
Q9JJ57 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065970
AA Change: M29T
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000069063
Gene: ENSMUSG00000053519
AA Change: M29T
| 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 null
Transcript: ENSMUST00000101368
AA Change: M1T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000098919
Gene: ENSMUSG00000053519
AA Change: M1T
| 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 |
possibly damaging
Transcript: ENSMUST00000109340
AA Change: M40T
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104964
Gene: ENSMUSG00000053519
AA Change: M40T
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
G |
A |
19: 8,980,396 (GRCm39) |
G560D |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,559,414 (GRCm39) |
D239E |
possibly damaging |
Het |
| Ap2a1 |
T |
A |
7: 44,555,120 (GRCm39) |
T482S |
probably damaging |
Het |
| BC004004 |
T |
C |
17: 29,501,225 (GRCm39) |
L58P |
probably damaging |
Het |
| Camsap1 |
C |
A |
2: 25,823,635 (GRCm39) |
V1472L |
possibly damaging |
Het |
| Ces3b |
A |
T |
8: 105,819,884 (GRCm39) |
E569V |
probably damaging |
Het |
| Commd6 |
G |
A |
14: 101,877,738 (GRCm39) |
|
probably benign |
Het |
| Ddx54 |
A |
G |
5: 120,761,703 (GRCm39) |
D493G |
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,593,299 (GRCm39) |
R1189C |
probably damaging |
Het |
| Ern2 |
T |
A |
7: 121,782,413 (GRCm39) |
I68F |
possibly damaging |
Het |
| Eya4 |
A |
G |
10: 22,992,449 (GRCm39) |
|
probably null |
Het |
| Gda |
A |
T |
19: 21,387,250 (GRCm39) |
I325K |
probably damaging |
Het |
| Gmnn |
T |
C |
13: 24,936,105 (GRCm39) |
T190A |
probably benign |
Het |
| Hdac4 |
G |
A |
1: 91,887,137 (GRCm39) |
P801S |
probably damaging |
Het |
| Hnrnph3 |
A |
T |
10: 62,853,903 (GRCm39) |
*72K |
probably null |
Het |
| Hoxd12 |
A |
T |
2: 74,505,480 (GRCm39) |
N17I |
probably damaging |
Het |
| Incenp |
G |
A |
19: 9,861,092 (GRCm39) |
R497C |
unknown |
Het |
| Iqsec1 |
C |
A |
6: 90,666,685 (GRCm39) |
R584L |
probably damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,339,735 (GRCm39) |
S18T |
probably benign |
Het |
| Lepr |
T |
A |
4: 101,625,265 (GRCm39) |
D473E |
probably benign |
Het |
| Nfkbiz |
T |
C |
16: 55,636,167 (GRCm39) |
T564A |
probably damaging |
Het |
| Nsd3 |
C |
T |
8: 26,152,836 (GRCm39) |
T392I |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,636,054 (GRCm39) |
S231P |
probably damaging |
Het |
| Or10w1 |
T |
C |
19: 13,632,297 (GRCm39) |
I163T |
probably damaging |
Het |
| P4ha2 |
A |
G |
11: 54,010,984 (GRCm39) |
D333G |
probably damaging |
Het |
| Parg |
T |
C |
14: 32,018,142 (GRCm39) |
|
probably benign |
Het |
| Psmc2 |
G |
A |
5: 22,005,007 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,338,063 (GRCm39) |
Y3354C |
probably damaging |
Het |
| Siglec1 |
T |
G |
2: 130,927,461 (GRCm39) |
D115A |
probably damaging |
Het |
| Slit3 |
G |
T |
11: 35,501,529 (GRCm39) |
G421V |
probably damaging |
Het |
| Srgap3 |
T |
A |
6: 112,716,358 (GRCm39) |
H590L |
probably damaging |
Het |
| Stk36 |
A |
C |
1: 74,664,769 (GRCm39) |
T628P |
possibly damaging |
Het |
| Stx12 |
A |
T |
4: 132,590,576 (GRCm39) |
M107K |
probably benign |
Het |
| Syne2 |
G |
T |
12: 76,090,526 (GRCm39) |
V5105F |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,256,727 (GRCm39) |
S1650G |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,082,522 (GRCm39) |
N685S |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,905,409 (GRCm39) |
V60A |
probably benign |
Het |
| Ttyh3 |
G |
A |
5: 140,617,268 (GRCm39) |
R334W |
probably benign |
Het |
| Ube2u |
A |
G |
4: 100,336,422 (GRCm39) |
E15G |
possibly damaging |
Het |
| Ush2a |
G |
T |
1: 188,581,189 (GRCm39) |
V3690L |
probably benign |
Het |
| Xab2 |
A |
G |
8: 3,671,232 (GRCm39) |
V16A |
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 |
|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation