Incidental Mutation 'R3797:Kcnip3'
ID |
473638 |
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 |
040758-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3797 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
127298418-127364014 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 127323934 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 32
(S32P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085896
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028850]
[ENSMUST00000088538]
[ENSMUST00000103215]
|
AlphaFold |
Q9QXT8 |
Predicted Effect |
probably benign
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: ENSMUST00000088538
AA Change: S32P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000085896 Gene: ENSMUSG00000079056 AA Change: S32P
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 benign
Transcript: ENSMUST00000103215
|
SMART Domains |
Protein: ENSMUSP00000099504 Gene: ENSMUSG00000079056
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: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (39/39) |
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 |
Adgrf3 |
T |
C |
5: 30,401,821 (GRCm39) |
I736V |
possibly damaging |
Het |
Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
B4galt1 |
G |
A |
4: 40,807,258 (GRCm39) |
T376I |
probably benign |
Het |
Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
Capn5 |
C |
T |
7: 97,775,036 (GRCm39) |
G535R |
probably null |
Het |
Ccdc170 |
G |
A |
10: 4,510,920 (GRCm39) |
V660I |
possibly damaging |
Het |
Cdc73 |
A |
T |
1: 143,553,461 (GRCm39) |
D215E |
probably benign |
Het |
Clec14a |
G |
A |
12: 58,314,695 (GRCm39) |
A309V |
probably benign |
Het |
Clns1a |
G |
A |
7: 97,346,042 (GRCm39) |
G36R |
probably benign |
Het |
Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
Dsp |
T |
A |
13: 38,361,260 (GRCm39) |
|
probably null |
Het |
Eif3d |
A |
G |
15: 77,852,769 (GRCm39) |
F4S |
probably damaging |
Het |
Ephb1 |
T |
C |
9: 101,848,466 (GRCm39) |
T611A |
probably damaging |
Het |
Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
Fgfr1 |
G |
A |
8: 26,062,453 (GRCm39) |
D663N |
probably damaging |
Het |
Gm5592 |
G |
A |
7: 40,807,259 (GRCm39) |
|
probably benign |
Het |
Itgb8 |
T |
C |
12: 119,127,204 (GRCm39) |
I683M |
possibly damaging |
Het |
Limch1 |
A |
G |
5: 67,126,422 (GRCm39) |
T8A |
probably damaging |
Het |
Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,669,625 (GRCm39) |
Q1455R |
probably damaging |
Het |
Mtarc2 |
T |
C |
1: 184,573,505 (GRCm39) |
E131G |
possibly damaging |
Het |
Or51v14 |
C |
T |
7: 103,260,654 (GRCm39) |
R302Q |
probably benign |
Het |
Pak5 |
T |
C |
2: 135,942,746 (GRCm39) |
I465V |
probably benign |
Het |
Pcdhgb8 |
T |
C |
18: 37,895,728 (GRCm39) |
I266T |
probably benign |
Het |
Pde4d |
T |
C |
13: 109,769,431 (GRCm39) |
S40P |
probably benign |
Het |
Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
Polk |
A |
T |
13: 96,623,490 (GRCm39) |
|
probably benign |
Het |
Ppl |
T |
C |
16: 4,922,414 (GRCm39) |
|
probably benign |
Het |
Rab11fip3 |
A |
G |
17: 26,287,500 (GRCm39) |
C218R |
possibly damaging |
Het |
Setd2 |
T |
C |
9: 110,378,639 (GRCm39) |
V818A |
probably benign |
Het |
Skida1 |
C |
A |
2: 18,050,708 (GRCm39) |
E815* |
probably null |
Het |
Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
Svil |
T |
A |
18: 5,060,534 (GRCm39) |
C802S |
probably benign |
Het |
Trim7 |
A |
G |
11: 48,736,497 (GRCm39) |
|
probably null |
Het |
Ugt3a1 |
G |
A |
15: 9,310,727 (GRCm39) |
W336* |
probably null |
Het |
Vmn2r72 |
T |
C |
7: 85,387,285 (GRCm39) |
S760G |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,723,311 (GRCm39) |
|
probably null |
Het |
Wdfy4 |
A |
T |
14: 32,862,602 (GRCm39) |
I590N |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
Xpnpep1 |
A |
T |
19: 52,994,773 (GRCm39) |
V285D |
probably benign |
Het |
Zfp934 |
T |
C |
13: 62,665,702 (GRCm39) |
K313R |
probably benign |
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 |
R2443:Kcnip3
|
UTSW |
2 |
127,301,983 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2017-04-14 |