Incidental Mutation 'IGL00899:Kcnc4'
ID 27067
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnc4
Ensembl Gene ENSMUSG00000027895
Gene Name potassium voltage gated channel, Shaw-related subfamily, member 4
Synonyms Kcr2-4, Kv3.4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL00899
Quality Score
Status
Chromosome 3
Chromosomal Location 107438303-107459552 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107458463 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 143 (D143V)
Ref Sequence ENSEMBL: ENSMUSP00000009617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009617]
AlphaFold Q8R1C0
Predicted Effect possibly damaging
Transcript: ENSMUST00000009617
AA Change: D143V

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000009617
Gene: ENSMUSG00000027895
AA Change: D143V

DomainStartEndE-ValueType
Pfam:Potassium_chann 1 29 3e-23 PFAM
BTB 36 155 4.66e-16 SMART
low complexity region 168 185 N/A INTRINSIC
low complexity region 194 211 N/A INTRINSIC
Pfam:Ion_trans 229 487 2.6e-46 PFAM
Pfam:Ion_trans_2 386 480 3e-12 PFAM
low complexity region 489 505 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AU018091 A G 7: 3,158,763 I442T probably benign Het
Bpifb9a T C 2: 154,264,727 probably null Het
Ccp110 T A 7: 118,722,684 C521S probably benign Het
Chd6 A G 2: 161,029,298 probably benign Het
Cndp2 A T 18: 84,677,376 D133E probably damaging Het
Crygs T C 16: 22,806,562 E43G possibly damaging Het
Ednra C T 8: 77,675,071 G197R probably damaging Het
Esyt1 A G 10: 128,517,063 L656P probably damaging Het
Ets1 C T 9: 32,752,808 P118L probably damaging Het
Fam98c A G 7: 29,152,853 probably benign Het
Foxi1 G A 11: 34,205,772 T286I probably benign Het
Gimap5 G A 6: 48,753,173 A226T possibly damaging Het
Heatr1 C T 13: 12,435,176 A2017V probably benign Het
Ikbkb T C 8: 22,660,447 S740G possibly damaging Het
Inppl1 A T 7: 101,829,158 I617N probably damaging Het
Itpkb T C 1: 180,332,993 L228P probably benign Het
Krtdap T A 7: 30,789,962 probably null Het
Lilra6 T A 7: 3,913,057 T268S probably damaging Het
M6pr A G 6: 122,315,395 E183G possibly damaging Het
Muc5ac T A 7: 141,812,703 V2168D possibly damaging Het
Nbea A G 3: 55,642,845 S2721P probably benign Het
Olfr352 A T 2: 36,870,210 I215L probably benign Het
Pqbp1 T C X: 7,896,004 N94S probably benign Het
Prl3d2 T C 13: 27,122,349 S20P probably damaging Het
Psmb2 T C 4: 126,707,557 I151T probably benign Het
Rapgef6 G T 11: 54,620,018 E107* probably null Het
Slc2a13 T C 15: 91,497,399 T296A probably benign Het
Tcl1b4 A G 12: 105,204,657 T55A probably damaging Het
Tg T C 15: 66,674,073 probably null Het
Trim80 T G 11: 115,447,665 N440K probably benign Het
Ttc13 C T 8: 124,688,847 probably benign Het
Ttc38 T A 15: 85,844,462 I205N possibly damaging Het
Ufl1 T C 4: 25,262,238 D336G probably damaging Het
Vmn2r74 A T 7: 85,957,130 I336K probably benign Het
Zbtb26 G T 2: 37,436,258 Y255* probably null Het
Zfp462 T A 4: 55,007,732 V57E probably damaging Het
Other mutations in Kcnc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Kcnc4 APN 3 107447873 missense probably benign 0.01
IGL01755:Kcnc4 APN 3 107448175 missense probably damaging 1.00
IGL01895:Kcnc4 APN 3 107448218 missense probably benign 0.01
IGL02741:Kcnc4 APN 3 107447978 missense probably damaging 0.98
IGL03393:Kcnc4 APN 3 107447927 missense possibly damaging 0.75
PIT4151001:Kcnc4 UTSW 3 107458703 missense probably damaging 1.00
PIT4378001:Kcnc4 UTSW 3 107447563 missense probably benign
R0158:Kcnc4 UTSW 3 107458604 missense probably benign 0.21
R0415:Kcnc4 UTSW 3 107445433 missense probably damaging 1.00
R0704:Kcnc4 UTSW 3 107447963 missense possibly damaging 0.92
R0747:Kcnc4 UTSW 3 107448154 missense probably damaging 1.00
R1481:Kcnc4 UTSW 3 107448218 missense probably benign 0.02
R1540:Kcnc4 UTSW 3 107445427 splice site probably null
R1602:Kcnc4 UTSW 3 107448204 missense possibly damaging 0.96
R2422:Kcnc4 UTSW 3 107445547 missense probably benign 0.30
R3750:Kcnc4 UTSW 3 107448190 missense probably benign 0.36
R4791:Kcnc4 UTSW 3 107447543 missense probably benign 0.32
R4815:Kcnc4 UTSW 3 107458266 missense probably benign 0.37
R5216:Kcnc4 UTSW 3 107439441 missense probably benign
R5259:Kcnc4 UTSW 3 107448085 missense probably damaging 1.00
R5317:Kcnc4 UTSW 3 107458739 missense probably damaging 0.98
R5474:Kcnc4 UTSW 3 107447891 missense possibly damaging 0.82
R5783:Kcnc4 UTSW 3 107447872 missense possibly damaging 0.69
R5865:Kcnc4 UTSW 3 107458199 critical splice donor site probably null
R6228:Kcnc4 UTSW 3 107448377 missense probably damaging 0.99
R6536:Kcnc4 UTSW 3 107448196 missense possibly damaging 0.81
R7018:Kcnc4 UTSW 3 107458862 missense probably benign 0.00
R7319:Kcnc4 UTSW 3 107458784 missense probably benign 0.21
R7687:Kcnc4 UTSW 3 107458609 small insertion probably benign
R8436:Kcnc4 UTSW 3 107458768 missense probably damaging 0.96
R8707:Kcnc4 UTSW 3 107448133 missense possibly damaging 0.76
R8844:Kcnc4 UTSW 3 107448080 missense probably damaging 1.00
R8868:Kcnc4 UTSW 3 107448136 missense probably damaging 1.00
R9542:Kcnc4 UTSW 3 107458255 nonsense probably null
X0020:Kcnc4 UTSW 3 107447651 missense possibly damaging 0.90
Posted On 2013-04-17