Incidental Mutation 'R2443:Kcnip3'
| ID |
249855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnip3
|
| Ensembl Gene |
ENSMUSG00000079056 |
| Gene Name |
Kv channel interacting protein 3, calsenilin |
| Synonyms |
Csen, DREAM, 4933407H12Rik, R74849, KChIP3 |
| MMRRC Submission |
040401-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2443 (G1)
|
| Quality Score |
148 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
127298418-127364014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127301983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 194
(I194F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028850]
[ENSMUST00000088538]
[ENSMUST00000103215]
|
| AlphaFold |
Q9QXT8 |
| PDB Structure |
NMR Structure of DREAM [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028850
AA Change: I222F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028850
Gene: ENSMUSG00000079056
AA Change: I222F
| 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 damaging
Transcript: ENSMUST00000088538
AA Change: I168F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085896
Gene: ENSMUSG00000079056
AA Change: I168F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
EFh
|
104 |
132 |
1.74e-1 |
SMART |
|
EFh
|
140 |
168 |
3.82e-7 |
SMART |
|
EFh
|
188 |
216 |
3.79e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103215
AA Change: I194F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099504
Gene: ENSMUSG00000079056
AA Change: I194F
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc13 |
C |
T |
9: 102,511,222 (GRCm39) |
P37S |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,544,596 (GRCm39) |
D39E |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,123,094 (GRCm39) |
Y645H |
probably damaging |
Het |
| Clec4d |
G |
A |
6: 123,245,076 (GRCm39) |
V119M |
probably benign |
Het |
| Dennd11 |
T |
C |
6: 40,383,710 (GRCm39) |
D444G |
probably damaging |
Het |
| Dlx2 |
A |
G |
2: 71,376,349 (GRCm39) |
S130P |
probably benign |
Het |
| Dync2li1 |
C |
A |
17: 84,955,093 (GRCm39) |
Q251K |
probably benign |
Het |
| Edem1 |
A |
T |
6: 108,828,230 (GRCm39) |
K518N |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,388,665 (GRCm39) |
N239K |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,236,693 (GRCm39) |
V736A |
probably damaging |
Het |
| Fga |
A |
G |
3: 82,935,848 (GRCm39) |
K25R |
probably benign |
Het |
| Hmcn1 |
C |
A |
1: 150,474,783 (GRCm39) |
R4701S |
probably benign |
Het |
| Ighv8-5 |
G |
A |
12: 115,031,440 (GRCm39) |
P33L |
probably damaging |
Het |
| Kif26b |
A |
C |
1: 178,742,579 (GRCm39) |
I892L |
probably damaging |
Het |
| Krt78 |
C |
T |
15: 101,855,033 (GRCm39) |
G926E |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,566,919 (GRCm39) |
Y1934C |
unknown |
Het |
| Masp1 |
A |
T |
16: 23,295,062 (GRCm39) |
Y400N |
probably damaging |
Het |
| Methig1 |
T |
C |
15: 100,251,092 (GRCm39) |
M1T |
probably null |
Het |
| Mmp19 |
A |
G |
10: 128,634,725 (GRCm39) |
E447G |
possibly damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,567,557 (GRCm39) |
H115Y |
possibly damaging |
Het |
| Myo1e |
C |
T |
9: 70,234,454 (GRCm39) |
S269L |
probably benign |
Het |
| Myo7a |
G |
A |
7: 97,744,976 (GRCm39) |
T288I |
probably benign |
Het |
| Npy5r |
T |
A |
8: 67,133,942 (GRCm39) |
K284* |
probably null |
Het |
| Oas3 |
C |
A |
5: 120,915,553 (GRCm39) |
R46L |
probably benign |
Het |
| Or5l14 |
A |
T |
2: 87,793,209 (GRCm39) |
V9E |
possibly damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,350,447 (GRCm39) |
S431T |
probably benign |
Het |
| Pnpla2 |
T |
C |
7: 141,037,982 (GRCm39) |
V184A |
possibly damaging |
Het |
| Pomt2 |
C |
A |
12: 87,180,154 (GRCm39) |
K282N |
probably damaging |
Het |
| Psmd12 |
T |
A |
11: 107,386,563 (GRCm39) |
M378K |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Strn3 |
A |
T |
12: 51,674,618 (GRCm39) |
Y389N |
probably damaging |
Het |
| Tdrd1 |
C |
T |
19: 56,829,786 (GRCm39) |
A220V |
probably null |
Het |
| Tecpr2 |
T |
G |
12: 110,862,759 (GRCm39) |
L57R |
probably damaging |
Het |
| Tkfc |
A |
G |
19: 10,571,902 (GRCm39) |
L378P |
probably damaging |
Het |
| Tmprss2 |
T |
G |
16: 97,369,703 (GRCm39) |
D357A |
possibly damaging |
Het |
| Tollip |
C |
T |
7: 141,444,560 (GRCm39) |
W64* |
probably null |
Het |
| Vcan |
A |
G |
13: 89,852,794 (GRCm39) |
F722S |
probably damaging |
Het |
| Vcp |
A |
T |
4: 42,983,385 (GRCm39) |
N558K |
probably damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,133,646 (GRCm39) |
I318T |
probably damaging |
Het |
| Vmn1r33 |
A |
T |
6: 66,588,957 (GRCm39) |
I199K |
possibly damaging |
Het |
| Zfp61 |
A |
G |
7: 23,991,194 (GRCm39) |
V319A |
probably benign |
Het |
| Zfyve28 |
A |
G |
5: 34,374,238 (GRCm39) |
V592A |
possibly damaging |
Het |
|
| Other mutations in Kcnip3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01490:Kcnip3
|
APN |
2 |
127,352,799 (GRCm39) |
missense |
probably benign |
0.44 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAAGCCTAGTTGCATCTC -3'
(R):5'- TCATAACTTCTTGTTTCGGAGGC -3'
Sequencing Primer
(F):5'- TCCTCACTGGCACTGGTTGAAG -3'
(R):5'- TTCGGAGGCAGGTTCATAAATCC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation