Incidental Mutation 'R0453:Kcnip4'
ID 39756
Institutional Source Beutler Lab
Gene Symbol Kcnip4
Ensembl Gene ENSMUSG00000029088
Gene Name Kv channel interacting protein 4
Synonyms Calp250, KChIP4a
MMRRC Submission 038653-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0453 (G1)
Quality Score 177
Status Validated
Chromosome 5
Chromosomal Location 48546844-49682249 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48667054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 37 (L37P)
Ref Sequence ENSEMBL: ENSMUSP00000084656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087395] [ENSMUST00000166924] [ENSMUST00000175660] [ENSMUST00000176191] [ENSMUST00000176978]
AlphaFold Q6PHZ8
PDB Structure Structural Basis of KChIP4a Modulation of Kv4.3 Slow Inactivation [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000087395
AA Change: L37P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000084656
Gene: ENSMUSG00000029088
AA Change: L37P

DomainStartEndE-ValueType
EFh 124 152 6.16e-2 SMART
EFh 160 188 8.9e-8 SMART
EFh 208 236 6.14e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000101214
SMART Domains Protein: ENSMUSP00000098775
Gene: ENSMUSG00000029088

DomainStartEndE-ValueType
EFh 94 122 6.16e-2 SMART
EFh 130 158 8.9e-8 SMART
Pfam:EF-hand_5 179 195 1.1e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166924
SMART Domains Protein: ENSMUSP00000131276
Gene: ENSMUSG00000029088

DomainStartEndE-ValueType
EFh 107 135 6.16e-2 SMART
EFh 143 171 8.9e-8 SMART
EFh 191 219 6.14e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172363
SMART Domains Protein: ENSMUSP00000127538
Gene: ENSMUSG00000029088

DomainStartEndE-ValueType
EFh 90 118 6.16e-2 SMART
EFh 126 154 8.9e-8 SMART
EFh 174 202 6.14e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175660
SMART Domains Protein: ENSMUSP00000135799
Gene: ENSMUSG00000029088

DomainStartEndE-ValueType
EFh 99 127 6.16e-2 SMART
EFh 135 163 8.9e-8 SMART
EFh 183 211 6.14e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176191
SMART Domains Protein: ENSMUSP00000135071
Gene: ENSMUSG00000029088

DomainStartEndE-ValueType
EFh 62 90 6.16e-2 SMART
EFh 98 126 8.9e-8 SMART
EFh 146 174 6.14e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176978
SMART Domains Protein: ENSMUSP00000134758
Gene: ENSMUSG00000029088

DomainStartEndE-ValueType
low complexity region 9 22 N/A INTRINSIC
EFh 103 131 6.16e-2 SMART
EFh 139 167 8.9e-8 SMART
EFh 187 215 6.14e-1 SMART
Meta Mutation Damage Score 0.7107 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.6%
Validation Efficiency 99% (97/98)
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 voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,765,445 (GRCm39) K843* probably null Het
Adam26b T C 8: 43,973,387 (GRCm39) I538M probably benign Het
Adamtsl1 T C 4: 86,150,852 (GRCm39) Y337H probably damaging Het
Ak7 T C 12: 105,682,307 (GRCm39) M156T probably damaging Het
Aldh3a1 A G 11: 61,106,338 (GRCm39) M238V probably benign Het
Asic4 T A 1: 75,450,155 (GRCm39) probably benign Het
AW551984 A G 9: 39,511,937 (GRCm39) S25P probably damaging Het
Bbs7 T A 3: 36,661,818 (GRCm39) Y127F possibly damaging Het
Bco1 G A 8: 117,835,516 (GRCm39) E156K possibly damaging Het
Becn1 T C 11: 101,181,275 (GRCm39) D342G probably damaging Het
Birc6 T A 17: 74,956,749 (GRCm39) I3575N probably damaging Het
Brd10 T C 19: 29,731,068 (GRCm39) Y715C probably damaging Het
Cc2d2a A T 5: 43,860,636 (GRCm39) M522L probably benign Het
Cerkl A G 2: 79,172,795 (GRCm39) F293L probably benign Het
Chil3 T G 3: 106,056,221 (GRCm39) N311T probably benign Het
Cpeb2 T A 5: 43,443,056 (GRCm39) probably benign Het
Cpxm2 A G 7: 131,730,134 (GRCm39) S162P probably damaging Het
Cracr2b A C 7: 141,044,176 (GRCm39) E136A probably damaging Het
Cyp2a4 T A 7: 26,012,258 (GRCm39) M347K probably benign Het
Dicer1 C A 12: 104,668,889 (GRCm39) R1264S probably benign Het
Dlgap1 T A 17: 71,068,341 (GRCm39) N609K probably benign Het
Dnhd1 A G 7: 105,323,651 (GRCm39) T641A probably benign Het
Egfl8 T C 17: 34,833,856 (GRCm39) Y74C probably damaging Het
Esyt1 A G 10: 128,348,078 (GRCm39) S901P probably benign Het
Fam83e A T 7: 45,373,372 (GRCm39) D246V probably damaging Het
Galnt2 T C 8: 125,065,323 (GRCm39) probably benign Het
Hdc A G 2: 126,436,871 (GRCm39) probably benign Het
Herc1 A C 9: 66,307,054 (GRCm39) Q958P probably benign Het
Iqcg T A 16: 32,870,213 (GRCm39) probably benign Het
Iqub A T 6: 24,450,829 (GRCm39) F590Y probably damaging Het
Jak2 T C 19: 29,289,238 (GRCm39) I1130T probably benign Het
Kbtbd11 G A 8: 15,077,499 (GRCm39) A33T probably benign Het
Klk6 A G 7: 43,477,963 (GRCm39) N112D probably damaging Het
Kmt2c G A 5: 25,559,745 (GRCm39) T1011I probably damaging Het
Knl1 A T 2: 118,898,869 (GRCm39) K190M probably damaging Het
Lama3 T A 18: 12,598,535 (GRCm39) S981T possibly damaging Het
Lrrc18 T C 14: 32,730,608 (GRCm39) L49P probably damaging Het
Lrrc31 T C 3: 30,741,674 (GRCm39) E245G probably damaging Het
Lypd10 T A 7: 24,413,712 (GRCm39) S243T probably benign Het
Macf1 T C 4: 123,338,737 (GRCm39) I2456M probably benign Het
Mcm6 T A 1: 128,261,292 (GRCm39) T771S probably benign Het
Met A C 6: 17,534,197 (GRCm39) Y680S possibly damaging Het
Mixl1 T A 1: 180,524,211 (GRCm39) T123S probably damaging Het
Myh8 A T 11: 67,183,731 (GRCm39) I787F probably benign Het
Myocd A G 11: 65,087,051 (GRCm39) F292S probably damaging Het
Neb T C 2: 52,203,902 (GRCm39) probably null Het
Nfe2l1 A G 11: 96,718,194 (GRCm39) S114P probably damaging Het
Nrxn2 T C 19: 6,541,551 (GRCm39) S986P probably damaging Het
Oprl1 T C 2: 181,360,527 (GRCm39) probably null Het
Or11h6 T C 14: 50,880,461 (GRCm39) V241A possibly damaging Het
Or4a73 A T 2: 89,421,095 (GRCm39) Y121* probably null Het
Or5b101 T G 19: 13,005,295 (GRCm39) T133P probably damaging Het
Or6c8 A G 10: 128,915,640 (GRCm39) F64S probably damaging Het
Or8b53 G A 9: 38,667,425 (GRCm39) G147D probably damaging Het
Or8c9 A T 9: 38,241,467 (GRCm39) T195S probably benign Het
Panx2 T A 15: 88,952,610 (GRCm39) I359N probably damaging Het
Pik3c2b T A 1: 133,005,134 (GRCm39) V545E probably damaging Het
Piwil4 T C 9: 14,638,748 (GRCm39) N259S probably benign Het
Plcxd2 A T 16: 45,800,919 (GRCm39) F102I probably damaging Het
Pld5 A T 1: 175,917,522 (GRCm39) M75K possibly damaging Het
Pmp22 T A 11: 63,041,929 (GRCm39) probably benign Het
Polr2a A G 11: 69,631,845 (GRCm39) S1074P possibly damaging Het
Pop1 T A 15: 34,526,352 (GRCm39) V649E possibly damaging Het
Prc1 A G 7: 79,962,850 (GRCm39) N548S probably damaging Het
Prss51 T C 14: 64,334,588 (GRCm39) L202P probably damaging Het
Rhpn1 T C 15: 75,585,428 (GRCm39) S576P possibly damaging Het
Rictor A G 15: 6,738,123 (GRCm39) D20G probably benign Het
Rpl13a-ps1 A T 19: 50,018,645 (GRCm39) L177* probably null Het
Rpl23a-ps1 T G 1: 46,021,087 (GRCm39) noncoding transcript Het
Saa2 A G 7: 46,402,902 (GRCm39) D51G probably damaging Het
Sec31a A T 5: 100,551,977 (GRCm39) probably benign Het
Secisbp2 G A 13: 51,837,361 (GRCm39) E841K possibly damaging Het
Serinc1 A G 10: 57,393,306 (GRCm39) Y437H probably damaging Het
Slc39a12 A T 2: 14,440,492 (GRCm39) H481L probably benign Het
Suz12 T A 11: 79,920,859 (GRCm39) N586K probably damaging Het
Synm T C 7: 67,386,630 (GRCm39) Y344C possibly damaging Het
Tas2r104 A G 6: 131,662,304 (GRCm39) V135A probably benign Het
Tdrd9 T C 12: 112,034,673 (GRCm39) S1371P probably benign Het
Tg T A 15: 66,700,382 (GRCm39) D893E probably benign Het
Thoc5 C A 11: 4,868,217 (GRCm39) D423E possibly damaging Het
Trim11 G A 11: 58,881,361 (GRCm39) R418H probably damaging Het
Trim52 T G 14: 106,344,399 (GRCm39) V19G probably damaging Het
Tuba4a C A 1: 75,192,502 (GRCm39) V371L probably damaging Het
Ugt8a A G 3: 125,708,606 (GRCm39) V168A probably benign Het
Ulk1 C T 5: 110,938,951 (GRCm39) G496R probably damaging Het
Usp40 A G 1: 87,874,320 (GRCm39) *1236Q probably null Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r24 A G 6: 123,757,350 (GRCm39) probably null Het
Vmn2r53 A G 7: 12,316,338 (GRCm39) Y494H probably damaging Het
Vmn2r65 T A 7: 84,595,442 (GRCm39) D414V probably benign Het
Wdr26 A T 1: 181,010,444 (GRCm39) L519* probably null Het
Wnk1 A G 6: 119,940,112 (GRCm39) V173A probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp318 T C 17: 46,707,634 (GRCm39) S231P probably damaging Het
Zfp398 T C 6: 47,842,782 (GRCm39) V146A probably benign Het
Zfp410 T C 12: 84,378,486 (GRCm39) M270T probably damaging Het
Zfp445 A T 9: 122,682,578 (GRCm39) H454Q possibly damaging Het
Other mutations in Kcnip4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02749:Kcnip4 APN 5 48,567,127 (GRCm39) splice site probably benign
IGL03386:Kcnip4 APN 5 48,639,889 (GRCm39) missense probably damaging 1.00
R0811:Kcnip4 UTSW 5 48,567,202 (GRCm39) missense probably benign 0.00
R0812:Kcnip4 UTSW 5 48,567,202 (GRCm39) missense probably benign 0.00
R0856:Kcnip4 UTSW 5 48,576,552 (GRCm39) critical splice donor site probably null
R4879:Kcnip4 UTSW 5 48,567,207 (GRCm39) missense possibly damaging 0.95
R6034:Kcnip4 UTSW 5 48,548,283 (GRCm39) missense possibly damaging 0.89
R6034:Kcnip4 UTSW 5 48,548,283 (GRCm39) missense possibly damaging 0.89
R8507:Kcnip4 UTSW 5 48,639,997 (GRCm39) missense possibly damaging 0.55
R9690:Kcnip4 UTSW 5 48,555,846 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCAAATGAAAGTCGCCTGTTGCTC -3'
(R):5'- TAACCGGCTGTCTGTGATTGCCTG -3'

Sequencing Primer
(F):5'- CGAGCTGTAAATAGGCATTGCTTC -3'
(R):5'- GGCACTAACAGAACCGATCA -3'
Posted On 2013-05-23