Incidental Mutation 'IGL01490:Kcnip3'
| ID |
88833 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnip3
|
| Ensembl Gene |
ENSMUSG00000079056 |
| Gene Name |
Kv channel interacting protein 3, calsenilin |
| Synonyms |
Csen, DREAM, 4933407H12Rik, R74849, KChIP3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01490
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
127298418-127364014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 127352799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 44
(R44H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028850]
[ENSMUST00000103215]
|
| AlphaFold |
Q9QXT8 |
| PDB Structure |
NMR Structure of DREAM [SOLUTION NMR]
|
| Predicted Effect |
silent
Transcript: ENSMUST00000028850
|
| SMART Domains |
Protein: ENSMUSP00000028850
Gene: ENSMUSG00000079056
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
158 |
186 |
1.74e-1 |
SMART |
|
EFh
|
194 |
222 |
3.82e-7 |
SMART |
|
EFh
|
242 |
270 |
3.79e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103215
AA Change: R44H
PolyPhen 2
Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099504
Gene: ENSMUSG00000079056
AA Change: R44H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
70 |
N/A |
INTRINSIC |
|
EFh
|
130 |
158 |
1.74e-1 |
SMART |
|
EFh
|
166 |
194 |
3.82e-7 |
SMART |
|
EFh
|
214 |
242 |
3.79e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137625
|
| 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 voltage-gated potassium (Kv) channel-interacting proteins, which belong to the recoverin branch of the EF-hand superfamily. Members of this family are small calcium binding proteins containing EF-hand-like domains. They are integral subunit components of native Kv4 channel complexes that may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. The encoded protein also functions as a calcium-regulated transcriptional repressor, and interacts with presenilins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal spatial learning, hyperactivity, hypophagia, increased sensitivity to shock, and enhanced long term potentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,336,023 (GRCm39) |
Y2131C |
probably damaging |
Het |
| Ano6 |
T |
A |
15: 95,846,291 (GRCm39) |
S510T |
probably benign |
Het |
| Asb16 |
A |
T |
11: 102,167,575 (GRCm39) |
N314Y |
probably damaging |
Het |
| Atp6v0b |
G |
A |
4: 117,742,303 (GRCm39) |
Q150* |
probably null |
Het |
| Chct1 |
A |
G |
11: 85,069,138 (GRCm39) |
D52G |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Cmklr2 |
T |
C |
1: 63,222,455 (GRCm39) |
Y260C |
probably damaging |
Het |
| Crim1 |
A |
G |
17: 78,642,725 (GRCm39) |
D481G |
possibly damaging |
Het |
| Dnajb2 |
T |
C |
1: 75,213,534 (GRCm39) |
S3P |
probably damaging |
Het |
| Dnajb9 |
A |
T |
12: 44,253,869 (GRCm39) |
S179R |
possibly damaging |
Het |
| Dock2 |
A |
T |
11: 34,596,608 (GRCm39) |
I416N |
probably damaging |
Het |
| Dock7 |
G |
T |
4: 98,833,355 (GRCm39) |
|
probably benign |
Het |
| Eif6 |
T |
C |
2: 155,668,102 (GRCm39) |
I46V |
probably benign |
Het |
| Fcgr1 |
T |
C |
3: 96,191,686 (GRCm39) |
D374G |
probably benign |
Het |
| Gatad2b |
A |
G |
3: 90,259,385 (GRCm39) |
I374V |
possibly damaging |
Het |
| Gfpt2 |
T |
C |
11: 49,717,954 (GRCm39) |
|
probably benign |
Het |
| H2-M10.2 |
G |
T |
17: 36,596,377 (GRCm39) |
T156K |
probably damaging |
Het |
| Il20rb |
T |
A |
9: 100,355,207 (GRCm39) |
I79F |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,057,579 (GRCm39) |
D551V |
possibly damaging |
Het |
| Mex3b |
C |
A |
7: 82,519,035 (GRCm39) |
P450Q |
possibly damaging |
Het |
| Mmp20 |
T |
C |
9: 7,628,330 (GRCm39) |
L26P |
probably benign |
Het |
| Msh3 |
G |
A |
13: 92,436,813 (GRCm39) |
T499M |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,957,566 (GRCm39) |
S1466G |
possibly damaging |
Het |
| Myom3 |
A |
G |
4: 135,538,089 (GRCm39) |
R1324G |
possibly damaging |
Het |
| Nxph3 |
A |
G |
11: 95,401,919 (GRCm39) |
I165T |
possibly damaging |
Het |
| Prex2 |
G |
A |
1: 11,254,769 (GRCm39) |
|
probably null |
Het |
| Ptpn6 |
T |
A |
6: 124,705,307 (GRCm39) |
E208V |
probably damaging |
Het |
| Qpct |
T |
C |
17: 79,397,169 (GRCm39) |
V354A |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,676,715 (GRCm39) |
I108V |
possibly damaging |
Het |
| Tmem67 |
A |
G |
4: 12,057,422 (GRCm39) |
|
probably benign |
Het |
| Trappc12 |
A |
T |
12: 28,796,914 (GRCm39) |
I206N |
probably damaging |
Het |
| Vmn1r173 |
A |
T |
7: 23,402,132 (GRCm39) |
K122N |
probably benign |
Het |
| Wdr35 |
G |
T |
12: 9,027,381 (GRCm39) |
G54V |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,291,147 (GRCm39) |
C2153S |
probably damaging |
Het |
|
| Other mutations in Kcnip3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0277:Kcnip3
|
UTSW |
2 |
127,301,899 (GRCm39) |
splice site |
probably benign |
|
|
R0410:Kcnip3
|
UTSW |
2 |
127,301,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Kcnip3
|
UTSW |
2 |
127,300,317 (GRCm39) |
splice site |
probably benign |
|
|
R1183:Kcnip3
|
UTSW |
2 |
127,306,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Kcnip3
|
UTSW |
2 |
127,301,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2265:Kcnip3
|
UTSW |
2 |
127,306,981 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2443:Kcnip3
|
UTSW |
2 |
127,301,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3797:Kcnip3
|
UTSW |
2 |
127,323,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5077:Kcnip3
|
UTSW |
2 |
127,307,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6834:Kcnip3
|
UTSW |
2 |
127,300,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7084:Kcnip3
|
UTSW |
2 |
127,352,856 (GRCm39) |
missense |
probably benign |
|
|
R7234:Kcnip3
|
UTSW |
2 |
127,363,256 (GRCm39) |
missense |
unknown |
|
|
R7813:Kcnip3
|
UTSW |
2 |
127,323,703 (GRCm39) |
splice site |
probably null |
|
|
R8130:Kcnip3
|
UTSW |
2 |
127,352,828 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8178:Kcnip3
|
UTSW |
2 |
127,323,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9469:Kcnip3
|
UTSW |
2 |
127,307,322 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9618:Kcnip3
|
UTSW |
2 |
127,352,812 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Kcnip3
|
UTSW |
2 |
127,352,801 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-11-18 |
Incidental Mutation