Incidental Mutation 'R5337:Kcnip1'
ID 423582
Institutional Source Beutler Lab
Gene Symbol Kcnip1
Ensembl Gene ENSMUSG00000053519
Gene Name Kv channel-interacting protein 1
Synonyms KCHIP1, 3202002F18Rik, 2900046L02Rik
MMRRC Submission 042917-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R5337 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 33579339-33943152 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to G at 33592389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065970] [ENSMUST00000101368] [ENSMUST00000109340]
AlphaFold Q9JJ57
Predicted Effect probably benign
Transcript: ENSMUST00000065970
SMART Domains Protein: ENSMUSP00000069063
Gene: ENSMUSG00000053519

DomainStartEndE-ValueType
EFh 90 118 2.24e1 SMART
EFh 126 154 8.77e-7 SMART
EFh 174 202 2.83e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000101368
SMART Domains Protein: ENSMUSP00000098919
Gene: ENSMUSG00000053519

DomainStartEndE-ValueType
EFh 62 90 2.24e1 SMART
EFh 98 126 8.77e-7 SMART
EFh 146 174 2.83e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109340
SMART Domains Protein: ENSMUSP00000104964
Gene: ENSMUSG00000053519

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (59/60)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd15 T A 11: 77,409,665 (GRCm39) probably null Het
Akap8l A G 17: 32,555,368 (GRCm39) M237T possibly damaging Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Api5 G T 2: 94,256,033 (GRCm39) A218E possibly damaging Het
Bltp2 T A 11: 78,156,034 (GRCm39) I182N possibly damaging Het
Cfap68 C A 9: 50,677,049 (GRCm39) C14F probably benign Het
Cftr A G 6: 18,319,058 (GRCm39) D1336G probably damaging Het
Chd1l G A 3: 97,469,932 (GRCm39) R865W probably damaging Het
Cimip2b C T 4: 43,427,687 (GRCm39) probably null Het
Cmya5 T C 13: 93,219,781 (GRCm39) K3223E probably benign Het
Cspg4b T A 13: 113,455,299 (GRCm39) H448Q probably damaging Het
Cuzd1 A G 7: 130,917,803 (GRCm39) Y266H probably damaging Het
Dnajc5b A T 3: 19,628,946 (GRCm39) Y80F probably damaging Het
Dock6 A G 9: 21,740,844 (GRCm39) S915P possibly damaging Het
Fat4 T A 3: 38,945,776 (GRCm39) D1556E probably damaging Het
Fat4 A G 3: 39,064,527 (GRCm39) T4828A probably benign Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gja3 T G 14: 57,273,289 (GRCm39) D361A probably benign Het
Gpr155 T C 2: 73,178,592 (GRCm39) E704G probably benign Het
Greb1l A G 18: 10,509,143 (GRCm39) E485G probably damaging Het
Grik1 CGG CGGG 16: 87,720,082 (GRCm39) probably null Het
H6pd A G 4: 150,066,241 (GRCm39) V715A probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kif21b T C 1: 136,098,881 (GRCm39) S1390P probably damaging Het
Lrrc61 G A 6: 48,545,308 (GRCm39) V44M probably damaging Het
Map3k4 G T 17: 12,490,497 (GRCm39) N311K probably damaging Het
Mgat5 T C 1: 127,387,658 (GRCm39) F538S possibly damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Ndst1 A T 18: 60,823,079 (GRCm39) L829Q probably damaging Het
Neto1 A T 18: 86,416,434 (GRCm39) H47L probably benign Het
Or10ak11 T C 4: 118,686,863 (GRCm39) Y258C probably benign Het
Or10p22 A G 10: 128,826,548 (GRCm39) T256A probably benign Het
Or51r1 T C 7: 102,228,481 (GRCm39) S260P probably damaging Het
Or5p61 A T 7: 107,758,480 (GRCm39) V200D probably benign Het
Or6c214 A T 10: 129,590,403 (GRCm39) C305* probably null Het
Pds5b T C 5: 150,717,062 (GRCm39) F1120L probably benign Het
Phkb A G 8: 86,604,874 (GRCm39) Y93C probably damaging Het
Pilra C T 5: 137,834,032 (GRCm39) probably benign Het
Pmvk T C 3: 89,375,878 (GRCm39) V146A probably benign Het
Proz T A 8: 13,116,854 (GRCm39) D135E probably benign Het
Psg23 A T 7: 18,345,997 (GRCm39) W233R probably benign Het
Rgl2 A T 17: 34,153,958 (GRCm39) I455F probably damaging Het
Rhpn1 A G 15: 75,580,054 (GRCm39) Q39R probably benign Het
Rims4 T G 2: 163,707,763 (GRCm39) M100L probably benign Het
Sacs T A 14: 61,430,963 (GRCm39) probably benign Het
Slfn4 T C 11: 83,080,055 (GRCm39) F189L probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Tmem127 T C 2: 127,098,065 (GRCm39) Y129H probably damaging Het
Trim50 C T 5: 135,396,330 (GRCm39) T426M probably damaging Het
Trpc3 A T 3: 36,692,519 (GRCm39) probably benign Het
Tsga10ip A T 19: 5,444,363 (GRCm39) S23T probably benign Het
Tut7 G A 13: 59,939,666 (GRCm39) T695I probably damaging Het
Uspl1 T C 5: 149,151,556 (GRCm39) S720P probably damaging Het
Zc3h18 A G 8: 123,113,641 (GRCm39) D211G probably damaging Het
Zswim4 G A 8: 84,961,708 (GRCm39) P55L probably 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
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
R6210:Kcnip1 UTSW 11 33,595,600 (GRCm39) missense possibly damaging 0.93
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'- CGAATTAGACAGCCCCTTGC -3'
(R):5'- AGGTGATTAACAGAGGCCTTCTTC -3'

Sequencing Primer
(F):5'- TTGCTGACTCTTACCAAAACATC -3'
(R):5'- GATTAACAGAGGCCTTCTTCTCTAC -3'
Posted On 2016-08-04