Incidental Mutation 'R0319:Kcnip1'
ID 177856
Institutional Source Beutler Lab
Gene Symbol Kcnip1
Ensembl Gene ENSMUSG00000053519
Gene Name Kv channel-interacting protein 1
Synonyms KCHIP1, 3202002F18Rik, 2900046L02Rik
MMRRC Submission 038529-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R0319 (G1)
Quality Score 64
Status Validated
Chromosome 11
Chromosomal Location 33579339-33943152 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 33601529 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 95.0%
  • 20x: 89.1%
Validation Efficiency 100% (58/58)
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
9130023H24Rik A C 7: 127,836,362 (GRCm39) V77G probably benign Het
Abcb1b A G 5: 8,877,428 (GRCm39) R663G probably benign Het
Acly A G 11: 100,395,808 (GRCm39) V404A probably damaging Het
Actg2 T A 6: 83,497,725 (GRCm39) I103F probably damaging Het
Anapc5 A G 5: 122,956,919 (GRCm39) V120A probably damaging Het
Ankk1 T G 9: 49,327,371 (GRCm39) T603P probably damaging Het
Ankmy2 T C 12: 36,215,898 (GRCm39) S33P possibly damaging Het
Arhgef19 A T 4: 140,983,710 (GRCm39) T748S possibly damaging Het
Atad5 T A 11: 80,011,616 (GRCm39) probably benign Het
Atxn10 T C 15: 85,249,483 (GRCm39) L105P probably damaging Het
Cacna1s T C 1: 135,998,455 (GRCm39) V161A probably damaging Het
Col6a3 T C 1: 90,735,426 (GRCm39) E741G possibly damaging Het
Cpne9 G A 6: 113,271,654 (GRCm39) G338E probably damaging Het
Cyp3a13 G A 5: 137,897,124 (GRCm39) P397S probably damaging Het
Dbn1 C T 13: 55,622,729 (GRCm39) E585K probably damaging Het
Draxin A G 4: 148,200,429 (GRCm39) L7P probably benign Het
Exosc7 T A 9: 122,960,025 (GRCm39) probably benign Het
Far2 A G 6: 148,058,968 (GRCm39) E218G probably damaging Het
Ggps1 A C 13: 14,228,462 (GRCm39) N240K possibly damaging Het
Kcnv2 A T 19: 27,301,424 (GRCm39) Y425F probably benign Het
Kdelr2 T A 5: 143,398,272 (GRCm39) F40I probably damaging Het
Kdm1b C T 13: 47,207,195 (GRCm39) P173L probably benign Het
Kif20b G A 19: 34,925,132 (GRCm39) probably benign Het
Klhl9 A T 4: 88,638,691 (GRCm39) Y517N possibly damaging Het
Lgals3bp A G 11: 118,284,347 (GRCm39) S411P probably damaging Het
Lmo3 G A 6: 138,354,309 (GRCm39) T85M probably damaging Het
Lvrn C A 18: 46,997,820 (GRCm39) T256N probably damaging Het
Malt1 T C 18: 65,595,986 (GRCm39) probably null Het
Mgst1 A G 6: 138,133,155 (GRCm39) I157V possibly damaging Het
Mob3a A T 10: 80,525,819 (GRCm39) V164E possibly damaging Het
Mprip T A 11: 59,587,864 (GRCm39) probably benign Het
Mst1 A G 9: 107,959,712 (GRCm39) N276S probably benign Het
Or5an1b A T 19: 12,299,680 (GRCm39) C170* probably null Het
P3h2 T A 16: 25,789,681 (GRCm39) I529F possibly damaging Het
Pikfyve T A 1: 65,285,490 (GRCm39) S865T probably benign Het
Rcbtb2 G A 14: 73,415,909 (GRCm39) R474Q probably benign Het
Rpl27 G A 11: 101,334,321 (GRCm39) probably benign Het
Rtp1 G A 16: 23,250,210 (GRCm39) E192K probably damaging Het
Sgk2 T C 2: 162,837,592 (GRCm39) probably benign Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc49a4 T C 16: 35,570,884 (GRCm39) D140G probably benign Het
Spdl1 T C 11: 34,714,347 (GRCm39) N114S possibly damaging Het
Syne2 C T 12: 76,110,936 (GRCm39) R5756W probably damaging Het
Tor1aip1 T C 1: 155,882,927 (GRCm39) E307G probably damaging Het
Tpd52 T C 3: 9,018,749 (GRCm39) T44A probably benign Het
Trim67 A T 8: 125,549,966 (GRCm39) Y532F probably damaging Het
Ttll9 C A 2: 152,842,018 (GRCm39) probably null Het
Ush2a T C 1: 188,680,571 (GRCm39) probably benign Het
Vcam1 T C 3: 115,909,709 (GRCm39) I539M probably benign Het
Vmn1r19 T A 6: 57,381,600 (GRCm39) M51K possibly damaging Het
Vmn2r61 T A 7: 41,949,941 (GRCm39) M787K probably damaging Het
Xdh T A 17: 74,213,096 (GRCm39) probably benign Het
Zfp109 A T 7: 23,933,895 (GRCm39) V8E probably damaging Het
Zfp595 G A 13: 67,464,577 (GRCm39) A562V possibly damaging Het
Zfp759 A G 13: 67,288,356 (GRCm39) T636A probably benign 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
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
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'- TGGCTTCAGAAAGTGCTGATGCAAT -3'
(R):5'- CCAGGCTCTGCTATGCTGAGAAGA -3'

Sequencing Primer
(F):5'- ggagtgggtgggttggg -3'
(R):5'- TGAGAAGAGGCCCTTTGC -3'
Posted On 2014-04-30