Incidental Mutation 'R4843:Kcnip1'
ID 372005
Institutional Source Beutler Lab
Gene Symbol Kcnip1
Ensembl Gene ENSMUSG00000053519
Gene Name Kv channel-interacting protein 1
Synonyms KCHIP1, 3202002F18Rik, 2900046L02Rik
MMRRC Submission 042456-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R4843 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 33579339-33943152 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 33594504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 95 (H95L)
Ref Sequence ENSEMBL: ENSMUSP00000104964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065970] [ENSMUST00000101368] [ENSMUST00000109340]
AlphaFold Q9JJ57
Predicted Effect probably benign
Transcript: ENSMUST00000065970
AA Change: H84L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000069063
Gene: ENSMUSG00000053519
AA Change: H84L

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
AA Change: H56L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000098919
Gene: ENSMUSG00000053519
AA Change: H56L

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
AA Change: H95L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104964
Gene: ENSMUSG00000053519
AA Change: H95L

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 0.1574 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 95% (58/61)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp1 T A 12: 30,946,144 (GRCm39) K124* probably null Het
Actl11 G T 9: 107,806,691 (GRCm39) C338F possibly damaging Het
Adam5 G A 8: 25,303,552 (GRCm39) S125F probably damaging Het
Ap2s1 C A 7: 16,477,271 (GRCm39) A44D possibly damaging Het
AW554918 T C 18: 25,473,057 (GRCm39) V84A probably benign Het
Bsn G A 9: 107,984,388 (GRCm39) T3222M unknown Het
Car15 A G 16: 17,654,472 (GRCm39) Y155H possibly damaging Het
Cdca2 G T 14: 67,914,425 (GRCm39) P945T probably damaging Het
Cdh16 A G 8: 105,348,172 (GRCm39) F182L probably damaging Het
Cers6 G A 2: 68,899,003 (GRCm39) A214T probably benign Het
Ces1g A T 8: 94,057,893 (GRCm39) M136K probably damaging Het
Cnppd1 A G 1: 75,113,086 (GRCm39) V394A probably benign Het
Cyp3a59 A T 5: 146,033,071 (GRCm39) I148F possibly damaging Het
Dnah1 G A 14: 30,986,920 (GRCm39) A3624V probably damaging Het
Exoc3l4 T C 12: 111,394,487 (GRCm39) probably benign Het
Fap G T 2: 62,374,718 (GRCm39) P227Q probably damaging Het
Fbxw10 G A 11: 62,738,151 (GRCm39) R15H possibly damaging Het
Gm11011 T C 2: 169,429,240 (GRCm39) probably benign Het
Gm11146 A C 16: 77,392,144 (GRCm39) probably benign Het
Grip1 G A 10: 119,765,920 (GRCm39) R84Q probably damaging Het
Hipk2 A G 6: 38,796,192 (GRCm39) C19R possibly damaging Het
Hmgcll1 A G 9: 75,979,916 (GRCm39) D102G possibly damaging Het
Ighv16-1 A T 12: 114,032,504 (GRCm39) Y99* probably null Het
Kank1 T G 19: 25,408,371 (GRCm39) S1283R probably damaging Het
L3mbtl3 A T 10: 26,207,777 (GRCm39) L314Q unknown Het
Marveld3 C A 8: 110,688,702 (GRCm39) R13L possibly damaging Het
Mtrf1l G T 10: 5,773,696 (GRCm39) P23Q possibly damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Or5p69 G A 7: 107,967,350 (GRCm39) A218T probably benign Het
Or6c1b G T 10: 129,273,316 (GRCm39) V212L probably benign Het
Paqr7 A G 4: 134,234,278 (GRCm39) Y45C probably damaging Het
Plod3 G A 5: 137,019,854 (GRCm39) W428* probably null Het
Pnisr T A 4: 21,857,400 (GRCm39) probably benign Het
Ppip5k1 C A 2: 121,157,368 (GRCm39) R1046L probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Prmt5 A T 14: 54,753,582 (GRCm39) I99N probably benign Het
Ripk2 T C 4: 16,155,073 (GRCm39) T149A probably damaging Het
Rpf2 C A 10: 40,122,998 (GRCm39) probably benign Het
Rtf1 T A 2: 119,536,017 (GRCm39) D190E possibly damaging Het
Shank2 T A 7: 143,585,146 (GRCm39) M49K probably benign Het
Snd1 T G 6: 28,668,642 (GRCm39) V443G probably damaging Het
Spag9 T C 11: 93,988,644 (GRCm39) F555L probably damaging Het
Srfbp1 A G 18: 52,621,749 (GRCm39) K270R probably benign Het
Tenm2 T A 11: 35,914,847 (GRCm39) N2230I probably damaging Het
Tmem106a T C 11: 101,477,021 (GRCm39) probably benign Het
Tpsg1 A T 17: 25,589,591 (GRCm39) probably benign Het
Trank1 A G 9: 111,195,146 (GRCm39) S1057G probably benign Het
Unc13d G A 11: 115,965,085 (GRCm39) T220M probably damaging Het
Vmn1r68 T C 7: 10,261,904 (GRCm39) T65A probably benign Het
Vps50 T C 6: 3,536,974 (GRCm39) probably null Het
Washc5 A G 15: 59,222,220 (GRCm39) I85T possibly damaging Het
Zfp677 C T 17: 21,612,788 (GRCm39) T2I probably benign Het
Zxdc A G 6: 90,359,254 (GRCm39) T629A 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
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'- CCCCGTTTTGTTTGTCAGAG -3'
(R):5'- TCATGATAGGGTTGCCTCCAAG -3'

Sequencing Primer
(F):5'- CCCGTTTTGTTTGTCAGAGAGTTTTG -3'
(R):5'- TTCCACCTCACTACAGACT -3'
Posted On 2016-03-01