Incidental Mutation 'IGL01364:Kcnn4'
ID 75860
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnn4
Ensembl Gene ENSMUSG00000054342
Gene Name potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4
Synonyms mIKCa1, IKCa1, KCa3.1, SK4, IK1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # IGL01364
Quality Score
Status
Chromosome 7
Chromosomal Location 24069750-24084635 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24081128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 289 (F289L)
Ref Sequence ENSEMBL: ENSMUSP00000146012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171904] [ENSMUST00000205428] [ENSMUST00000205626]
AlphaFold O89109
Predicted Effect probably benign
Transcript: ENSMUST00000171904
AA Change: F289L

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000133065
Gene: ENSMUSG00000054342
AA Change: F289L

DomainStartEndE-ValueType
Pfam:SK_channel 11 124 1.7e-41 PFAM
low complexity region 143 160 N/A INTRINSIC
Pfam:Ion_trans_2 209 289 2.6e-16 PFAM
CaMBD 302 375 1.85e-32 SMART
low complexity region 411 424 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205428
AA Change: F289L

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000205626
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206910
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null male mice have increased parotid gland weight and both sexes have impaired volume regulation in erythrocytes and T lymphocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 C A 4: 40,181,380 (GRCm39) probably null Het
Acot6 T C 12: 84,147,840 (GRCm39) V32A possibly damaging Het
Aff3 A T 1: 38,574,762 (GRCm39) L73I probably damaging Het
Aldh1l2 C A 10: 83,328,531 (GRCm39) D729Y probably damaging Het
Alox15 T C 11: 70,235,992 (GRCm39) Q525R possibly damaging Het
Atr T C 9: 95,747,677 (GRCm39) Y320H probably benign Het
Atxn3 C T 12: 101,900,682 (GRCm39) probably benign Het
Caprin2 C A 6: 148,774,526 (GRCm39) S262I probably benign Het
Ccar1 T C 10: 62,612,653 (GRCm39) probably null Het
Ccdc14 T A 16: 34,543,583 (GRCm39) L647H probably damaging Het
Cd300lf T C 11: 115,017,176 (GRCm39) D49G probably benign Het
Csmd2 A G 4: 128,308,081 (GRCm39) T1280A probably benign Het
Ddb1 T C 19: 10,605,024 (GRCm39) probably null Het
Dnah9 A G 11: 66,046,285 (GRCm39) Y88H probably damaging Het
Enpp1 T C 10: 24,540,512 (GRCm39) T351A probably damaging Het
Evi2b T A 11: 79,407,449 (GRCm39) Y42F probably benign Het
Fdps A T 3: 89,001,577 (GRCm39) C274* probably null Het
Flnb A C 14: 7,934,562 (GRCm38) probably null Het
Herc1 T A 9: 66,306,643 (GRCm39) V917E probably benign Het
Hmcn2 C T 2: 31,251,826 (GRCm39) Q854* probably null Het
Hmgxb3 T C 18: 61,279,506 (GRCm39) Y769C probably damaging Het
Hps3 G T 3: 20,057,469 (GRCm39) Q772K possibly damaging Het
Ifnab T C 4: 88,608,987 (GRCm39) S160G probably damaging Het
Kalrn T C 16: 34,082,999 (GRCm39) E652G probably damaging Het
Kat6a T C 8: 23,397,716 (GRCm39) L255S probably damaging Het
Kbtbd7 T A 14: 79,665,486 (GRCm39) D439E possibly damaging Het
Mapk6 A C 9: 75,296,072 (GRCm39) D475E possibly damaging Het
Msh5 A G 17: 35,247,745 (GRCm39) V825A possibly damaging Het
Mst1 A G 9: 107,958,800 (GRCm39) I111V probably benign Het
Myo1h T A 5: 114,486,500 (GRCm39) I586N probably damaging Het
Or4k36 G T 2: 111,146,015 (GRCm39) A64S probably damaging Het
Panx1 C T 9: 14,932,761 (GRCm39) V80M probably damaging Het
Polr3b T A 10: 84,531,533 (GRCm39) I803N probably benign Het
Rasa4 T C 5: 136,124,425 (GRCm39) V158A possibly damaging Het
Rbp3 T A 14: 33,676,145 (GRCm39) M31K possibly damaging Het
Rpl3l A G 17: 24,951,404 (GRCm39) K154E probably benign Het
Sec24a A T 11: 51,604,356 (GRCm39) probably null Het
Sox5 C T 6: 144,062,198 (GRCm39) M151I probably damaging Het
Sun1 T A 5: 139,220,496 (GRCm39) L290Q probably damaging Het
Tm9sf2 T A 14: 122,380,872 (GRCm39) I155N probably damaging Het
Trmt9b A G 8: 36,979,501 (GRCm39) K368R probably benign Het
Tuft1 A G 3: 94,542,810 (GRCm39) probably benign Het
Ubash3b A G 9: 40,929,311 (GRCm39) probably null Het
Vwa1 A G 4: 155,855,200 (GRCm39) probably null Het
Wnk1 T C 6: 119,914,372 (GRCm39) E80G probably damaging Het
Xpot C A 10: 121,440,399 (GRCm39) A611S probably benign Het
Other mutations in Kcnn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02958:Kcnn4 APN 7 24,074,170 (GRCm39) missense probably benign 0.00
ivanhoe UTSW 7 24,074,167 (GRCm39) missense probably damaging 1.00
longbow UTSW 7 24,078,680 (GRCm39) missense possibly damaging 0.88
R0009:Kcnn4 UTSW 7 24,078,680 (GRCm39) missense possibly damaging 0.88
R1706:Kcnn4 UTSW 7 24,074,167 (GRCm39) missense probably damaging 1.00
R4300:Kcnn4 UTSW 7 24,077,029 (GRCm39) missense probably benign 0.21
R4402:Kcnn4 UTSW 7 24,076,867 (GRCm39) missense probably benign 0.12
R5455:Kcnn4 UTSW 7 24,076,978 (GRCm39) missense probably damaging 1.00
R5811:Kcnn4 UTSW 7 24,077,030 (GRCm39) missense probably damaging 0.99
R6319:Kcnn4 UTSW 7 24,081,165 (GRCm39) missense possibly damaging 0.89
R8098:Kcnn4 UTSW 7 24,083,504 (GRCm39) missense probably damaging 0.99
R8322:Kcnn4 UTSW 7 24,083,545 (GRCm39) missense probably benign
R8376:Kcnn4 UTSW 7 24,077,051 (GRCm39) missense possibly damaging 0.47
R8871:Kcnn4 UTSW 7 24,083,500 (GRCm39) missense possibly damaging 0.94
R9063:Kcnn4 UTSW 7 24,076,934 (GRCm39) missense probably damaging 1.00
R9519:Kcnn4 UTSW 7 24,081,941 (GRCm39) missense probably damaging 1.00
R9608:Kcnn4 UTSW 7 24,083,503 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07