Incidental Mutation 'IGL03372:Kcmf1'
ID 420358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcmf1
Ensembl Gene ENSMUSG00000055239
Gene Name potassium channel modulatory factor 1
Synonyms 1700094M07Rik, Pmcf, clone DEBT-91
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # IGL03372
Quality Score
Status
Chromosome 6
Chromosomal Location 72818097-72876962 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 72826546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 161 (L161R)
Ref Sequence ENSEMBL: ENSMUSP00000064410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068697] [ENSMUST00000204598] [ENSMUST00000204708] [ENSMUST00000206378]
AlphaFold Q80UY2
Predicted Effect probably damaging
Transcript: ENSMUST00000068697
AA Change: L161R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064410
Gene: ENSMUSG00000055239
AA Change: L161R

DomainStartEndE-ValueType
ZnF_ZZ 3 48 6.05e-14 SMART
ZnF_C2H2 78 101 3.16e-3 SMART
low complexity region 157 168 N/A INTRINSIC
low complexity region 175 192 N/A INTRINSIC
coiled coil region 224 259 N/A INTRINSIC
low complexity region 331 340 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203431
Predicted Effect probably damaging
Transcript: ENSMUST00000204598
AA Change: L110R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144910
Gene: ENSMUSG00000055239
AA Change: L110R

DomainStartEndE-ValueType
ZnF_C2H2 27 50 1.4e-5 SMART
Blast:ZnF_C2H2 57 85 9e-6 BLAST
low complexity region 106 117 N/A INTRINSIC
low complexity region 124 141 N/A INTRINSIC
coiled coil region 173 208 N/A INTRINSIC
low complexity region 280 289 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000204708
AA Change: L8R
Predicted Effect probably benign
Transcript: ENSMUST00000206378
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit some perinatal and postnatal lethality but mice that survive to adulthood exhibit normal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C T 4: 129,911,362 (GRCm39) A1161V probably benign Het
Alpi A G 1: 87,028,350 (GRCm39) probably benign Het
Asxl1 A T 2: 153,242,333 (GRCm39) N961I probably damaging Het
Bcl2l10 A G 9: 75,255,329 (GRCm39) I49V probably benign Het
Bod1l T C 5: 41,962,578 (GRCm39) probably benign Het
Ccl20 A G 1: 83,095,597 (GRCm39) M54V probably benign Het
Cep72 A C 13: 74,191,637 (GRCm39) L200V possibly damaging Het
Clic4 T C 4: 134,945,925 (GRCm39) D164G probably damaging Het
Col5a3 G A 9: 20,686,624 (GRCm39) P1334S unknown Het
Dab2 T C 15: 6,459,030 (GRCm39) L293P probably damaging Het
Ddx50 A T 10: 62,479,109 (GRCm39) S140T probably benign Het
Dnah6 A T 6: 73,052,833 (GRCm39) M2897K probably benign Het
Dnmt3a A G 12: 3,952,666 (GRCm39) E721G probably damaging Het
Esyt3 A T 9: 99,218,109 (GRCm39) probably benign Het
Fat4 G T 3: 38,943,283 (GRCm39) K725N possibly damaging Het
Fezf1 T C 6: 23,246,909 (GRCm39) I308V probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gapdhs T C 7: 30,432,674 (GRCm39) probably benign Het
Gm10109 A T 7: 43,871,126 (GRCm39) probably benign Het
Gpd2 G A 2: 57,245,519 (GRCm39) V405I probably damaging Het
Gtf2e1 T C 16: 37,356,077 (GRCm39) probably benign Het
Iqca1 A G 1: 90,072,691 (GRCm39) I63T possibly damaging Het
Kif19a G T 11: 114,670,044 (GRCm39) V80L probably damaging Het
Kif21a A T 15: 90,840,579 (GRCm39) M1179K probably benign Het
Krtap19-2 A G 16: 88,670,774 (GRCm39) probably benign Het
Ksr2 T A 5: 117,840,783 (GRCm39) I575N possibly damaging Het
L3mbtl1 A T 2: 162,813,077 (GRCm39) probably benign Het
Larp1b A T 3: 40,978,962 (GRCm39) H6L possibly damaging Het
Map4k2 T A 19: 6,392,279 (GRCm39) probably benign Het
Mdh1b T C 1: 63,759,154 (GRCm39) H146R possibly damaging Het
Morc2a T C 11: 3,631,813 (GRCm39) probably benign Het
Mvd A G 8: 123,170,113 (GRCm39) probably benign Het
Myo7b C T 18: 32,131,654 (GRCm39) S514N probably damaging Het
Nav1 A T 1: 135,378,641 (GRCm39) I1610K probably damaging Het
Nbas T C 12: 13,584,473 (GRCm39) L2095P probably damaging Het
Nrros T C 16: 31,963,588 (GRCm39) N115S probably damaging Het
Or5p52 T C 7: 107,502,577 (GRCm39) Y218H probably damaging Het
Otud6b A C 4: 14,812,519 (GRCm39) I276R possibly damaging Het
P2rx6 G A 16: 17,385,356 (GRCm39) E150K probably damaging Het
Pan2 T A 10: 128,150,996 (GRCm39) L771Q probably benign Het
Pbrm1 T A 14: 30,806,976 (GRCm39) N1087K probably benign Het
Pcdhb5 G T 18: 37,453,713 (GRCm39) R31L probably benign Het
Proser3 A C 7: 30,242,993 (GRCm39) S195A probably damaging Het
Rad50 T C 11: 53,586,121 (GRCm39) K292E probably benign Het
Rbm27 G A 18: 42,438,781 (GRCm39) R394H probably damaging Het
Samd9l A G 6: 3,375,314 (GRCm39) I649T probably damaging Het
Skint3 G A 4: 112,113,103 (GRCm39) probably benign Het
Slc4a4 T A 5: 89,304,285 (GRCm39) L576Q probably damaging Het
Snx2 A G 18: 53,349,463 (GRCm39) D408G probably damaging Het
Taar2 T C 10: 23,817,069 (GRCm39) V203A probably benign Het
Tdrd6 C T 17: 43,936,459 (GRCm39) V1530M probably damaging Het
Tsc2 A C 17: 24,838,444 (GRCm39) L515R probably damaging Het
Unc13a A T 8: 72,108,353 (GRCm39) M500K probably damaging Het
Vmn1r75 A G 7: 11,614,496 (GRCm39) D76G probably benign Het
Whrn T C 4: 63,336,855 (GRCm39) D127G probably damaging Het
Other mutations in Kcmf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02903:Kcmf1 APN 6 72,835,866 (GRCm39) missense possibly damaging 0.95
IGL03057:Kcmf1 APN 6 72,820,010 (GRCm39) missense probably benign 0.02
IGL03098:Kcmf1 UTSW 6 72,826,567 (GRCm39) start codon destroyed probably null
R0080:Kcmf1 UTSW 6 72,827,470 (GRCm39) splice site probably null
R0082:Kcmf1 UTSW 6 72,827,470 (GRCm39) splice site probably null
R0226:Kcmf1 UTSW 6 72,819,935 (GRCm39) missense probably benign
R0402:Kcmf1 UTSW 6 72,826,568 (GRCm39) start codon destroyed probably null
R0412:Kcmf1 UTSW 6 72,825,224 (GRCm39) nonsense probably null
R0616:Kcmf1 UTSW 6 72,827,467 (GRCm39) missense probably benign 0.08
R1087:Kcmf1 UTSW 6 72,835,863 (GRCm39) missense probably damaging 1.00
R1383:Kcmf1 UTSW 6 72,826,565 (GRCm39) missense possibly damaging 0.94
R1533:Kcmf1 UTSW 6 72,820,003 (GRCm39) missense possibly damaging 0.49
R1544:Kcmf1 UTSW 6 72,825,212 (GRCm39) missense probably benign
R2355:Kcmf1 UTSW 6 72,827,466 (GRCm39) missense probably damaging 1.00
R2380:Kcmf1 UTSW 6 72,835,755 (GRCm39) critical splice donor site probably null
R3103:Kcmf1 UTSW 6 72,838,830 (GRCm39) missense probably damaging 1.00
R4533:Kcmf1 UTSW 6 72,826,574 (GRCm39) missense probably damaging 1.00
R5450:Kcmf1 UTSW 6 72,819,913 (GRCm39) nonsense probably null
R5927:Kcmf1 UTSW 6 72,819,988 (GRCm39) missense possibly damaging 0.49
R6467:Kcmf1 UTSW 6 72,820,082 (GRCm39) missense probably damaging 0.99
R7048:Kcmf1 UTSW 6 72,826,450 (GRCm39) missense probably damaging 1.00
R7089:Kcmf1 UTSW 6 72,825,289 (GRCm39) missense probably benign 0.00
R7089:Kcmf1 UTSW 6 72,819,929 (GRCm39) missense probably benign 0.26
R9046:Kcmf1 UTSW 6 72,825,455 (GRCm39) missense probably damaging 1.00
R9360:Kcmf1 UTSW 6 72,838,826 (GRCm39) nonsense probably null
Posted On 2016-08-02