Incidental Mutation 'IGL02749:Kcnip4'
ID306225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnip4
Ensembl Gene ENSMUSG00000029088
Gene NameKv channel interacting protein 4
SynonymsKChIP4a, Calp250
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02749
Quality Score
Status
Chromosome5
Chromosomal Location48389502-49524907 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 48409785 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087395] [ENSMUST00000166924] [ENSMUST00000175660] [ENSMUST00000176191] [ENSMUST00000176978]
Predicted Effect probably benign
Transcript: ENSMUST00000087395
SMART Domains Protein: ENSMUSP00000084656
Gene: ENSMUSG00000029088

DomainStartEndE-ValueType
EFh 124 152 6.16e-2 SMART
EFh 160 188 8.9e-8 SMART
EFh 208 236 6.14e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000101214
SMART Domains Protein: ENSMUSP00000098775
Gene: ENSMUSG00000029088

DomainStartEndE-ValueType
EFh 94 122 6.16e-2 SMART
EFh 130 158 8.9e-8 SMART
Pfam:EF-hand_5 179 195 1.1e-4 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000101215
SMART Domains Protein: ENSMUSP00000098776
Gene: ENSMUSG00000029088

DomainStartEndE-ValueType
EFh 62 90 6.16e-2 SMART
EFh 98 126 8.9e-8 SMART
EFh 146 174 6.14e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166924
SMART Domains Protein: ENSMUSP00000131276
Gene: ENSMUSG00000029088

DomainStartEndE-ValueType
EFh 107 135 6.16e-2 SMART
EFh 143 171 8.9e-8 SMART
EFh 191 219 6.14e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172363
SMART Domains Protein: ENSMUSP00000127538
Gene: ENSMUSG00000029088

DomainStartEndE-ValueType
EFh 90 118 6.16e-2 SMART
EFh 126 154 8.9e-8 SMART
EFh 174 202 6.14e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175660
SMART Domains Protein: ENSMUSP00000135799
Gene: ENSMUSG00000029088

DomainStartEndE-ValueType
EFh 99 127 6.16e-2 SMART
EFh 135 163 8.9e-8 SMART
EFh 183 211 6.14e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176191
SMART Domains Protein: ENSMUSP00000135071
Gene: ENSMUSG00000029088

DomainStartEndE-ValueType
EFh 62 90 6.16e-2 SMART
EFh 98 126 8.9e-8 SMART
EFh 146 174 6.14e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176521
Predicted Effect probably benign
Transcript: ENSMUST00000176978
SMART Domains Protein: ENSMUSP00000134758
Gene: ENSMUSG00000029088

DomainStartEndE-ValueType
low complexity region 9 22 N/A INTRINSIC
EFh 103 131 6.16e-2 SMART
EFh 139 167 8.9e-8 SMART
EFh 187 215 6.14e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199818
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 (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830473C10Rik T C 5: 90,571,765 V240A possibly damaging Het
9230104M06Rik T C 12: 113,000,175 D61G probably benign Het
Ascc2 G A 11: 4,640,481 probably null Het
Atrn G T 2: 130,947,734 probably benign Het
Atrn C T 2: 130,970,144 Q670* probably null Het
Calr A C 8: 84,844,488 W236G probably damaging Het
Camk2g T A 14: 20,766,016 probably null Het
Cd101 G T 3: 101,020,399 T122K probably damaging Het
Col4a3bp T A 13: 96,629,135 N469K possibly damaging Het
Cryl1 T C 14: 57,303,724 T168A probably benign Het
Diaph3 A G 14: 86,918,825 I684T probably damaging Het
Ednrb A T 14: 103,823,059 M266K possibly damaging Het
Eif4h T C 5: 134,639,292 D3G probably damaging Het
Eny2 C T 15: 44,429,635 R28C possibly damaging Het
Epsti1 A G 14: 77,939,923 E181G probably damaging Het
Ezh2 A G 6: 47,533,764 F598S probably damaging Het
Fat3 G T 9: 16,006,711 T1472K possibly damaging Het
Gabra4 T A 5: 71,638,147 I262F probably benign Het
Gm15448 A G 7: 3,822,625 I415T probably damaging Het
Gpat4 A T 8: 23,180,870 Y109N probably damaging Het
Gpsm1 C T 2: 26,339,675 T36I probably damaging Het
Hikeshi C T 7: 89,935,889 V36I possibly damaging Het
Hip1 T C 5: 135,444,751 M238V probably benign Het
Hnrnpll A T 17: 80,061,991 M1K probably null Het
Irx2 G A 13: 72,631,310 D238N probably damaging Het
Lair1 G A 7: 4,028,901 T69I possibly damaging Het
Lamc1 A G 1: 153,249,853 I558T possibly damaging Het
Map4k5 C T 12: 69,815,806 E639K probably benign Het
Mc4r A G 18: 66,859,662 S127P probably damaging Het
Mmp23 A G 4: 155,651,532 M221T possibly damaging Het
Mre11a T C 9: 14,826,591 S587P possibly damaging Het
Myh9 A T 15: 77,807,986 Y124* probably null Het
Nek9 C A 12: 85,305,507 A861S probably benign Het
Nup155 T A 15: 8,134,076 Y576N probably damaging Het
Olfr1128 C T 2: 87,544,657 V296M probably damaging Het
Pcca A T 14: 122,534,388 T8S probably benign Het
Pcdh15 A G 10: 74,631,068 D1573G probably benign Het
Pdpr T A 8: 111,118,090 V373E probably benign Het
Pdzph1 A T 17: 58,932,483 L950Q possibly damaging Het
Prss35 A C 9: 86,756,244 K356Q probably damaging Het
Psg22 A T 7: 18,723,019 T237S possibly damaging Het
Rdh13 A G 7: 4,427,704 Y252H probably damaging Het
Sema3d T C 5: 12,563,145 probably benign Het
Slc35b2 G A 17: 45,566,567 V207I probably benign Het
Sparcl1 T G 5: 104,092,880 E226A possibly damaging Het
Srms C A 2: 181,209,509 A155S possibly damaging Het
Tas2r107 A T 6: 131,659,954 I44N probably damaging Het
Tmem236 C T 2: 14,219,321 T307M probably damaging Het
Ush2a C T 1: 188,946,958 P4788S probably damaging Het
Vmn1r170 A T 7: 23,606,291 L39F probably benign Het
Vmn2r90 T A 17: 17,726,860 *121R probably null Het
Other mutations in Kcnip4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03386:Kcnip4 APN 5 48482547 missense probably damaging 1.00
R0453:Kcnip4 UTSW 5 48509712 missense probably damaging 0.96
R0811:Kcnip4 UTSW 5 48409860 missense probably benign 0.00
R0812:Kcnip4 UTSW 5 48409860 missense probably benign 0.00
R0856:Kcnip4 UTSW 5 48419210 critical splice donor site probably null
R4879:Kcnip4 UTSW 5 48409865 missense possibly damaging 0.95
R6034:Kcnip4 UTSW 5 48390941 missense possibly damaging 0.89
R6034:Kcnip4 UTSW 5 48390941 missense possibly damaging 0.89
R8507:Kcnip4 UTSW 5 48482655 missense possibly damaging 0.55
Posted On2015-04-16