Incidental Mutation 'R3420:Kcnip1'
| ID |
267015 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnip1
|
| Ensembl Gene |
ENSMUSG00000053519 |
| Gene Name |
Kv channel-interacting protein 1 |
| Synonyms |
KCHIP1, 3202002F18Rik, 2900046L02Rik |
| MMRRC Submission |
040638-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R3420 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
33579339-33943152 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33595594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 43
(V43A)
|
| 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: V32A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000069063
Gene: ENSMUSG00000053519
AA Change: V32A
| 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: V4A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000098919
Gene: ENSMUSG00000053519
AA Change: V4A
| 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: V43A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104964
Gene: ENSMUSG00000053519
AA Change: V43A
| 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
|
| Meta Mutation Damage Score |
0.0943 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
A |
G |
6: 34,770,900 (GRCm39) |
T132A |
probably benign |
Het |
| Amn1 |
A |
T |
6: 149,070,950 (GRCm39) |
L196* |
probably null |
Het |
| Ccdc73 |
A |
T |
2: 104,782,292 (GRCm39) |
K216M |
probably null |
Het |
| Ccdc73 |
G |
A |
2: 104,782,293 (GRCm39) |
|
probably null |
Het |
| Celsr2 |
A |
G |
3: 108,321,732 (GRCm39) |
V360A |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,400,597 (GRCm39) |
W650R |
probably damaging |
Het |
| Cyp2b9 |
G |
A |
7: 25,909,528 (GRCm39) |
G432E |
probably damaging |
Het |
| Dclre1b |
A |
G |
3: 103,715,412 (GRCm39) |
Y29H |
probably damaging |
Het |
| Enthd1 |
T |
C |
15: 80,444,225 (GRCm39) |
D110G |
probably damaging |
Het |
| Grin1 |
C |
T |
2: 25,193,926 (GRCm39) |
G390D |
probably damaging |
Het |
| Hoxc6 |
T |
A |
15: 102,919,327 (GRCm39) |
W188R |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,621,595 (GRCm39) |
I81N |
probably damaging |
Het |
| Klb |
G |
A |
5: 65,529,485 (GRCm39) |
G338S |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nuak2 |
A |
G |
1: 132,259,818 (GRCm39) |
D532G |
probably benign |
Het |
| Or8d1 |
A |
G |
9: 38,766,621 (GRCm39) |
K88E |
possibly damaging |
Het |
| Prps2 |
G |
A |
X: 166,165,504 (GRCm39) |
|
probably null |
Het |
| Prss23 |
C |
A |
7: 89,159,107 (GRCm39) |
V321L |
possibly damaging |
Het |
| Psmb2 |
T |
C |
4: 126,571,630 (GRCm39) |
M28T |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,544,990 (GRCm39) |
I230T |
probably damaging |
Het |
| Slc25a17 |
C |
T |
15: 81,244,901 (GRCm39) |
V11I |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,012,407 (GRCm39) |
V359A |
probably benign |
Het |
| Slco1a5 |
A |
T |
6: 142,213,964 (GRCm39) |
D52E |
possibly damaging |
Het |
| Tafa1 |
C |
A |
6: 96,626,099 (GRCm39) |
D112E |
probably damaging |
Het |
| Tlr4 |
A |
G |
4: 66,757,773 (GRCm39) |
I189V |
probably benign |
Het |
| Washc1 |
T |
C |
17: 66,424,028 (GRCm39) |
S247P |
probably damaging |
Het |
| Zdhhc14 |
T |
A |
17: 5,803,366 (GRCm39) |
*490R |
probably null |
Het |
| Zfp217 |
A |
G |
2: 169,961,937 (GRCm39) |
F130S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTGGCATGGGAAAAGC -3'
(R):5'- ACAGATTGTGAAGCAGGCTG -3'
Sequencing Primer
(F):5'- CCTTGGCATGGGAAAAGCTTAGG -3'
(R):5'- ATTGTGAAGCAGGCTGAGTGG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation