Incidental Mutation 'R6058:Kcnip1'
ID 483066
Institutional Source Beutler Lab
Gene Symbol Kcnip1
Ensembl Gene ENSMUSG00000053519
Gene Name Kv channel-interacting protein 1
Synonyms KCHIP1, 3202002F18Rik, 2900046L02Rik
MMRRC Submission 044224-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R6058 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 33579339-33943152 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33592478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 102 (T102A)
Ref Sequence ENSEMBL: ENSMUSP00000098919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065970] [ENSMUST00000101368] [ENSMUST00000109340]
AlphaFold Q9JJ57
Predicted Effect probably benign
Transcript: ENSMUST00000065970
AA Change: T130A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000069063
Gene: ENSMUSG00000053519
AA Change: T130A

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 damaging
Transcript: ENSMUST00000101368
AA Change: T102A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098919
Gene: ENSMUSG00000053519
AA Change: T102A

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: T141A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000104964
Gene: ENSMUSG00000053519
AA Change: T141A

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: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
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 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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Adamts20 G A 15: 94,227,928 (GRCm39) R1040* probably null Het
Akt1 A G 12: 112,628,634 (GRCm39) L52P probably damaging Het
Alk T A 17: 72,176,742 (GRCm39) T1521S probably benign Het
Armt1 A G 10: 4,403,488 (GRCm39) N191S probably damaging Het
Ascl1 T G 10: 87,328,562 (GRCm39) N130T probably damaging Het
Bahcc1 T G 11: 120,178,211 (GRCm39) S2257A probably damaging Het
Cd86 T C 16: 36,449,377 (GRCm39) M7V possibly damaging Het
Cep57 A T 9: 13,722,057 (GRCm39) S304R possibly damaging Het
Cep57l1 A T 10: 41,616,918 (GRCm39) I123N possibly damaging Het
Cers6 A G 2: 68,692,008 (GRCm39) N10S probably benign Het
Chrng A G 1: 87,139,074 (GRCm39) D475G probably damaging Het
Crabp1 T A 9: 54,680,129 (GRCm39) V128E probably damaging Het
Csnk2a1-ps3 T C 1: 156,352,425 (GRCm39) Y209H probably damaging Het
Dcdc2a T C 13: 25,240,354 (GRCm39) V34A possibly damaging Het
Eeig1 G A 2: 32,450,102 (GRCm39) V117I probably benign Het
Fbn1 A G 2: 125,308,532 (GRCm39) C177R possibly damaging Het
Fras1 A G 5: 96,857,844 (GRCm39) D2046G probably benign Het
Glul T C 1: 153,783,087 (GRCm39) I220T probably benign Het
Gpc6 C T 14: 118,202,182 (GRCm39) T464M probably damaging Het
Gpm6a T C 8: 55,511,833 (GRCm39) S236P probably damaging Het
H2-K2 G T 17: 34,218,304 (GRCm39) T204K probably benign Het
H2-K2 T C 17: 34,218,305 (GRCm39) T204A probably benign Het
Hecw2 T C 1: 53,963,135 (GRCm39) H792R possibly damaging Het
Herc4 T A 10: 63,110,821 (GRCm39) I244K possibly damaging Het
Hsd11b2 G T 8: 106,249,966 (GRCm39) R359L possibly damaging Het
Igsf9 G A 1: 172,312,456 (GRCm39) E56K probably damaging Het
Il9 T C 13: 56,628,495 (GRCm39) T65A possibly damaging Het
L3mbtl2 T C 15: 81,551,555 (GRCm39) S74P probably benign Het
Lamc2 C T 1: 153,012,575 (GRCm39) D700N probably benign Het
Ldb2 T C 5: 44,633,905 (GRCm39) T322A possibly damaging Het
Lix1 A T 17: 17,664,012 (GRCm39) I117F probably damaging Het
Map2 T A 1: 66,454,573 (GRCm39) D1154E probably benign Het
Marco A T 1: 120,404,435 (GRCm39) I425N probably damaging Het
Mark4 T C 7: 19,160,310 (GRCm39) E650G probably benign Het
Mink1 A G 11: 70,502,546 (GRCm39) T1086A possibly damaging Het
Nxf1 G A 19: 8,745,186 (GRCm39) V479M probably damaging Het
Or10v1 T A 19: 11,873,388 (GRCm39) M1K probably null Het
Or11g2 T C 14: 50,856,158 (GRCm39) F160L probably benign Het
Or2n1e A G 17: 38,586,150 (GRCm39) T163A probably damaging Het
Or5h23 T C 16: 58,906,273 (GRCm39) D191G probably damaging Het
Or5h23 A G 16: 58,906,792 (GRCm39) V18A probably benign Het
Or6c5 T C 10: 129,074,329 (GRCm39) S104P probably damaging Het
Otx2 T C 14: 48,896,215 (GRCm39) D281G probably damaging Het
Pcdhga3 A T 18: 37,808,141 (GRCm39) D198V probably damaging Het
Ppp1r13l T C 7: 19,104,500 (GRCm39) V273A probably benign Het
Ppp6r2 T C 15: 89,137,455 (GRCm39) probably null Het
Pramel51 T A 12: 88,143,995 (GRCm39) I273F possibly damaging Het
Prg4 C T 1: 150,327,197 (GRCm39) G873D probably damaging Het
Ptprq T C 10: 107,471,135 (GRCm39) N1422S probably benign Het
Rbm27 A T 18: 42,460,570 (GRCm39) K839M probably damaging Het
Rere A T 4: 150,553,255 (GRCm39) N149I probably damaging Het
Ret A G 6: 118,156,280 (GRCm39) L340S probably benign Het
Sel1l2 T A 2: 140,082,889 (GRCm39) D583V possibly damaging Het
Shroom1 A T 11: 53,354,308 (GRCm39) D76V possibly damaging Het
Slc5a3 C A 16: 91,875,963 (GRCm39) S673R probably benign Het
Spink1 A T 18: 43,861,247 (GRCm39) I74N probably damaging Het
Tbc1d1 T A 5: 64,435,352 (GRCm39) S497T probably damaging Het
Trim3 C T 7: 105,260,278 (GRCm39) R741Q probably damaging Het
Ttn A G 2: 76,747,022 (GRCm39) C4676R probably benign Het
Ubqlnl G A 7: 103,797,959 (GRCm39) P513S probably benign Het
Unc13d C T 11: 115,964,394 (GRCm39) probably null Het
Vmn1r125 TGG TG 7: 21,006,144 (GRCm39) probably null Het
Vmn2r7 A T 3: 64,632,436 (GRCm39) C9S probably benign Het
Xdh T A 17: 74,213,264 (GRCm39) M829L probably damaging Het
Zcrb1 A G 15: 93,285,463 (GRCm39) F173L probably benign Het
Zfp41 T C 15: 75,490,372 (GRCm39) V108A probably damaging Het
Zfp438 T C 18: 5,213,209 (GRCm39) E583G probably damaging Het
Zfp628 T C 7: 4,923,917 (GRCm39) L713P probably damaging Het
Zfp664 T A 5: 124,963,042 (GRCm39) C145* probably null Het
Zfp683 T C 4: 133,786,042 (GRCm39) C390R probably damaging Het
Zfp941 G A 7: 140,392,010 (GRCm39) P450S 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
R5337:Kcnip1 UTSW 11 33,592,389 (GRCm39) intron probably benign
R5596:Kcnip1 UTSW 11 33,580,597 (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'- ATCCAGGAAGCTGAATGAATTCTC -3'
(R):5'- TGGGCATCAGAAACTGCAAC -3'

Sequencing Primer
(F):5'- CAATCTTTGTTGAACACCCGTG -3'
(R):5'- AGGCTGAGACTGGACATTTCC -3'
Posted On 2017-07-14