Incidental Mutation 'IGL03159:Kcnk7'
ID 411352
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnk7
Ensembl Gene ENSMUSG00000024936
Gene Name potassium channel, subfamily K, member 7
Synonyms Mlk3, 2310014G03Rik, Kcnk8, Knot
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03159
Quality Score
Status
Chromosome 19
Chromosomal Location 5754395-5757137 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5756116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 114 (L114P)
Ref Sequence ENSEMBL: ENSMUSP00000051278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004156] [ENSMUST00000049295] [ENSMUST00000052448] [ENSMUST00000075606]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000004156
SMART Domains Protein: ENSMUSP00000004156
Gene: ENSMUSG00000004054

DomainStartEndE-ValueType
low complexity region 11 36 N/A INTRINSIC
SH3 45 105 6.79e-19 SMART
TyrKc 118 377 6.83e-81 SMART
coiled coil region 398 444 N/A INTRINSIC
low complexity region 467 476 N/A INTRINSIC
low complexity region 593 610 N/A INTRINSIC
low complexity region 614 632 N/A INTRINSIC
low complexity region 676 697 N/A INTRINSIC
low complexity region 759 778 N/A INTRINSIC
low complexity region 786 805 N/A INTRINSIC
low complexity region 809 820 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000049295
SMART Domains Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937

DomainStartEndE-ValueType
Pfam:NT-C2 12 164 3.2e-24 PFAM
low complexity region 245 256 N/A INTRINSIC
low complexity region 276 291 N/A INTRINSIC
internal_repeat_1 442 821 1.71e-12 PROSPERO
internal_repeat_1 833 1197 1.71e-12 PROSPERO
CH 1212 1310 3.55e-16 SMART
low complexity region 1316 1331 N/A INTRINSIC
low complexity region 1426 1449 N/A INTRINSIC
low complexity region 1471 1484 N/A INTRINSIC
low complexity region 1493 1547 N/A INTRINSIC
DUF3585 1552 1696 6.7e-59 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000052448
AA Change: L114P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051278
Gene: ENSMUSG00000024936
AA Change: L114P

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Ion_trans_2 67 145 3.2e-14 PFAM
Pfam:Ion_trans_2 175 261 8.8e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075606
SMART Domains Protein: ENSMUSP00000126740
Gene: ENSMUSG00000024937

DomainStartEndE-ValueType
Pfam:NT-C2 12 164 3.9e-25 PFAM
CH 268 366 3.55e-16 SMART
low complexity region 372 387 N/A INTRINSIC
low complexity region 482 505 N/A INTRINSIC
low complexity region 527 540 N/A INTRINSIC
low complexity region 549 603 N/A INTRINSIC
DUF3585 608 752 6.7e-59 SMART
Coding Region Coverage
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 superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel; however, it may require other non-pore-forming proteins for activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and behaviorally normal with no significant alterations in volatile anesthetic sensitivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T A 13: 104,580,723 (GRCm39) M812K probably damaging Het
Ctnnal1 G A 4: 56,844,599 (GRCm39) R122W probably benign Het
Cyp2j7 A G 4: 96,115,749 (GRCm39) probably benign Het
Defa29 A G 8: 21,816,978 (GRCm39) V5A possibly damaging Het
Defb22 A G 2: 152,331,995 (GRCm39) F13L probably benign Het
Gmds C A 13: 32,003,934 (GRCm39) D362Y probably damaging Het
Gtf2h1 T C 7: 46,456,167 (GRCm39) V179A possibly damaging Het
Idh3b T A 2: 130,126,321 (GRCm39) N6I probably benign Het
Lama1 G A 17: 68,111,531 (GRCm39) G2261R probably damaging Het
Lrrc37 T A 11: 103,495,328 (GRCm39) probably benign Het
Mfsd3 A G 15: 76,587,101 (GRCm39) T285A probably benign Het
Or5g27 A G 2: 85,410,284 (GRCm39) R234G probably damaging Het
Prrc2b T C 2: 32,084,498 (GRCm39) M321T probably damaging Het
Sf3b1 A T 1: 55,051,372 (GRCm39) N185K probably benign Het
Smo A G 6: 29,758,504 (GRCm39) R550G probably benign Het
Tbc1d31 T G 15: 57,783,444 (GRCm39) probably null Het
Uck1 G A 2: 32,148,334 (GRCm39) R161C probably benign Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vmn2r72 A T 7: 85,404,162 (GRCm39) F10I probably benign Het
Other mutations in Kcnk7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01843:Kcnk7 APN 19 5,756,230 (GRCm39) missense probably damaging 0.99
IGL02348:Kcnk7 APN 19 5,756,501 (GRCm39) unclassified probably benign
R0025:Kcnk7 UTSW 19 5,757,042 (GRCm39) makesense probably null
R0739:Kcnk7 UTSW 19 5,754,830 (GRCm39) splice site probably null
R0855:Kcnk7 UTSW 19 5,756,103 (GRCm39) missense probably benign 0.02
R1506:Kcnk7 UTSW 19 5,756,140 (GRCm39) missense probably damaging 1.00
R1676:Kcnk7 UTSW 19 5,757,006 (GRCm39) missense probably benign 0.02
R1716:Kcnk7 UTSW 19 5,756,859 (GRCm39) missense probably damaging 1.00
R4619:Kcnk7 UTSW 19 5,756,463 (GRCm39) missense probably benign 0.00
R4715:Kcnk7 UTSW 19 5,756,281 (GRCm39) missense probably damaging 1.00
R5119:Kcnk7 UTSW 19 5,756,352 (GRCm39) missense probably benign 0.00
R7018:Kcnk7 UTSW 19 5,756,160 (GRCm39) missense probably damaging 1.00
R7136:Kcnk7 UTSW 19 5,756,104 (GRCm39) missense probably benign 0.02
R7224:Kcnk7 UTSW 19 5,756,805 (GRCm39) missense probably benign
R8458:Kcnk7 UTSW 19 5,754,407 (GRCm39) unclassified probably benign
R8832:Kcnk7 UTSW 19 5,754,736 (GRCm39) missense probably damaging 0.96
R8848:Kcnk7 UTSW 19 5,756,743 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02