Incidental Mutation 'R6210:Kcnip1'
ID 503415
Institutional Source Beutler Lab
Gene Symbol Kcnip1
Ensembl Gene ENSMUSG00000053519
Gene Name Kv channel-interacting protein 1
Synonyms KCHIP1, 3202002F18Rik, 2900046L02Rik
MMRRC Submission 044344-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R6210 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 33579339-33943152 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33595600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 30 (T30I)
Ref Sequence ENSEMBL: ENSMUSP00000069063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065970] [ENSMUST00000101368] [ENSMUST00000109340]
AlphaFold Q9JJ57
Predicted Effect possibly damaging
Transcript: ENSMUST00000065970
AA Change: T30I

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000069063
Gene: ENSMUSG00000053519
AA Change: T30I

DomainStartEndE-ValueType
EFh 90 118 2.24e1 SMART
EFh 126 154 8.77e-7 SMART
EFh 174 202 2.83e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000101368
AA Change: T2I

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098919
Gene: ENSMUSG00000053519
AA Change: T2I

DomainStartEndE-ValueType
EFh 62 90 2.24e1 SMART
EFh 98 126 8.77e-7 SMART
EFh 146 174 2.83e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109340
AA Change: T41I

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104964
Gene: ENSMUSG00000053519
AA Change: T41I

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 95% (52/55)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 T A 18: 10,706,032 (GRCm39) I94F probably damaging Het
Bbox1 A T 2: 110,100,422 (GRCm39) D258E probably benign Het
Catsperb A G 12: 101,378,827 (GRCm39) probably null Het
Ccdc127 T C 13: 74,505,040 (GRCm39) V196A probably benign Het
Cd101 A T 3: 100,925,959 (GRCm39) D253E probably damaging Het
Ceacam15 T C 7: 16,407,214 (GRCm39) Y101C probably damaging Het
Cep135 C T 5: 76,772,570 (GRCm39) L652F probably benign Het
Col5a1 G T 2: 27,922,633 (GRCm39) V234L probably benign Het
Cxcr6 T C 9: 123,639,073 (GRCm39) S25P possibly damaging Het
Dctn4 C T 18: 60,679,865 (GRCm39) Q258* probably null Het
Fmnl2 A T 2: 53,020,457 (GRCm39) N1067I possibly damaging Het
Frrs1 A T 3: 116,672,080 (GRCm39) K59N probably benign Het
Gpr157 T C 4: 150,186,055 (GRCm39) Y206H probably damaging Het
Hephl1 A G 9: 15,001,860 (GRCm39) Y161H possibly damaging Het
Hinfp C T 9: 44,210,169 (GRCm39) probably null Het
Igf2r A T 17: 12,933,838 (GRCm39) N805K probably damaging Het
Ilrun A T 17: 27,986,960 (GRCm39) D255E probably benign Het
Itga3 T C 11: 94,959,717 (GRCm39) probably benign Het
Itga6 A G 2: 71,664,351 (GRCm39) probably null Het
Lig4 T C 8: 10,021,585 (GRCm39) T732A probably benign Het
Lmod3 T A 6: 97,224,262 (GRCm39) T520S probably damaging Het
Megf8 G A 7: 25,043,145 (GRCm39) V1356I possibly damaging Het
Mical3 C T 6: 121,017,478 (GRCm39) probably null Het
Msi1 T C 5: 115,573,535 (GRCm39) I8T probably damaging Het
Mug4-ps A T 6: 121,927,276 (GRCm39) noncoding transcript Het
Myo1f T A 17: 33,820,044 (GRCm39) I783N probably damaging Het
Nr6a1 A C 2: 38,619,509 (GRCm39) I462S probably damaging Het
Or2t48 C T 11: 58,420,090 (GRCm39) A241T probably damaging Het
Or8k23 A G 2: 86,186,702 (GRCm39) V8A probably benign Het
Pah C A 10: 87,419,423 (GRCm39) Q449K probably benign Het
Pced1a A G 2: 130,263,839 (GRCm39) V271A probably damaging Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Psg21 A G 7: 18,386,270 (GRCm39) Y239H probably damaging Het
Ptprt T C 2: 162,109,949 (GRCm39) Y180C probably damaging Het
Raet1d T A 10: 22,246,849 (GRCm39) I59N probably damaging Het
Rfx1 T C 8: 84,819,647 (GRCm39) L653P probably damaging Het
Rnase2a A G 14: 51,493,131 (GRCm39) V78A possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Serbp1 T C 6: 67,249,851 (GRCm39) probably benign Het
Tlr1 A T 5: 65,082,629 (GRCm39) H649Q probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpc6 T A 9: 8,656,731 (GRCm39) D719E probably benign Het
Ttc21b A T 2: 66,066,698 (GRCm39) S318R probably benign Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Uhmk1 T C 1: 170,039,806 (GRCm39) Q187R probably damaging Het
Ung C T 5: 114,269,438 (GRCm39) A50V probably benign Het
Upk3bl C T 5: 136,088,674 (GRCm39) Q103* probably null Het
Usp17le C A 7: 104,418,350 (GRCm39) C264F probably damaging Het
Vmn2r105 T A 17: 20,448,758 (GRCm39) N140Y probably damaging Het
Vmn2r84 C T 10: 130,222,114 (GRCm39) C702Y probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp748 G A 13: 67,688,923 (GRCm39) P779L possibly damaging Het
Other mutations in Kcnip1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R3420:Kcnip1 UTSW 11 33,595,594 (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
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'- CTTGGCATGGGAAAAGCTTAGG -3'
(R):5'- ACAGATTGTGAAGCAGGCTG -3'

Sequencing Primer
(F):5'- GCAAGTGGCAAAAATCACAGC -3'
(R):5'- ATTGTGAAGCAGGCTGAGTGG -3'
Posted On 2018-02-27