Incidental Mutation 'IGL01843:Kcnk7'
ID 178093
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 # IGL01843
Quality Score
Status
Chromosome 19
Chromosomal Location 5754395-5757137 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 5756230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 152 (G152D)
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: G152D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000051278
Gene: ENSMUSG00000024936
AA Change: G152D

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,530,301 (GRCm39) probably benign Het
Ap1b1 T C 11: 4,989,169 (GRCm39) L782P probably damaging Het
Arid1a T C 4: 133,408,765 (GRCm39) D1914G unknown Het
C8a G A 4: 104,719,808 (GRCm39) Q57* probably null Het
Cachd1 T C 4: 100,850,069 (GRCm39) S1144P probably damaging Het
Cdh23 A T 10: 60,255,598 (GRCm39) probably null Het
Cenpe A G 3: 134,924,268 (GRCm39) Q198R possibly damaging Het
Cpne8 T C 15: 90,453,700 (GRCm39) I228V probably benign Het
Cr2 A T 1: 194,833,222 (GRCm39) probably benign Het
Csmd3 T C 15: 47,522,395 (GRCm39) probably benign Het
Cyp2c23 A G 19: 43,994,046 (GRCm39) V440A probably benign Het
Dag1 T C 9: 108,085,281 (GRCm39) D620G possibly damaging Het
Dmxl1 T A 18: 50,011,449 (GRCm39) L1202* probably null Het
Dnah3 T G 7: 119,542,798 (GRCm39) H3538P probably benign Het
Dock8 A T 19: 25,067,292 (GRCm39) Q312L probably benign Het
E2f7 T G 10: 110,610,596 (GRCm39) V407G probably benign Het
F13b T C 1: 139,444,165 (GRCm39) S500P probably damaging Het
F5 A G 1: 164,039,395 (GRCm39) I2002V probably benign Het
Flywch1 T A 17: 23,979,319 (GRCm39) M439L possibly damaging Het
Gcn1 C A 5: 115,757,759 (GRCm39) A2488E probably damaging Het
Gria1 T C 11: 57,208,600 (GRCm39) S832P probably damaging Het
Hnrnpr T C 4: 136,066,724 (GRCm39) probably benign Het
Hps3 A G 3: 20,083,165 (GRCm39) I177T probably benign Het
Irgm2 G A 11: 58,111,167 (GRCm39) G298D probably benign Het
Man2a2 T C 7: 80,012,654 (GRCm39) T620A probably benign Het
Mapk12 A G 15: 89,021,669 (GRCm39) probably benign Het
Mapk6 T C 9: 75,297,572 (GRCm39) Y315C probably damaging Het
Mdga2 T A 12: 66,769,905 (GRCm39) probably null Het
Met T A 6: 17,491,700 (GRCm39) I154N probably damaging Het
Mtrex T C 13: 113,055,095 (GRCm39) probably benign Het
Nap1l1 A G 10: 111,328,772 (GRCm39) R234G possibly damaging Het
Olfm5 C A 7: 103,809,951 (GRCm39) V137F possibly damaging Het
Or4d11 G T 19: 12,014,041 (GRCm39) H22N probably benign Het
Pcdha11 C T 18: 37,145,886 (GRCm39) T659I probably benign Het
Pfkm T C 15: 98,027,187 (GRCm39) V620A possibly damaging Het
Rbak A G 5: 143,162,355 (GRCm39) probably benign Het
Rbl2 A G 8: 91,816,844 (GRCm39) I401M probably benign Het
Rragc T C 4: 123,814,852 (GRCm39) S183P probably damaging Het
Septin3 A G 15: 82,163,814 (GRCm39) probably benign Het
Slc22a6 A T 19: 8,603,578 (GRCm39) probably benign Het
Spag4 A T 2: 155,910,417 (GRCm39) T348S probably benign Het
Sptbn1 T C 11: 30,054,623 (GRCm39) R2157G probably benign Het
Tmem168 G A 6: 13,582,940 (GRCm39) T263M probably damaging Het
Tnik T A 3: 28,625,007 (GRCm39) probably null Het
Tnpo2 T A 8: 85,777,137 (GRCm39) V549E probably damaging Het
Ttll7 A C 3: 146,645,776 (GRCm39) K545Q possibly damaging Het
Tubgcp5 T G 7: 55,449,221 (GRCm39) D139E probably benign Het
Vmn1r233 T A 17: 21,214,861 (GRCm39) N30Y probably damaging Het
Vmn2r25 T G 6: 123,829,962 (GRCm39) D63A possibly damaging Het
Vmn2r79 T A 7: 86,686,485 (GRCm39) L622Q probably damaging Het
Vmn2r84 T C 10: 130,222,148 (GRCm39) M691V probably benign Het
Zc3hc1 A T 6: 30,372,729 (GRCm39) probably benign Het
Other mutations in Kcnk7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02348:Kcnk7 APN 19 5,756,501 (GRCm39) unclassified probably benign
IGL03159:Kcnk7 APN 19 5,756,116 (GRCm39) missense probably damaging 1.00
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 2014-05-07