Incidental Mutation 'IGL03057:Kcmf1'
ID 409286
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 # IGL03057
Quality Score
Status
Chromosome 6
Chromosomal Location 72818097-72876962 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 72820010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 330 (R330S)
Ref Sequence ENSEMBL: ENSMUSP00000064410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068697] [ENSMUST00000204598] [ENSMUST00000206378]
AlphaFold Q80UY2
Predicted Effect probably benign
Transcript: ENSMUST00000068697
AA Change: R330S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000064410
Gene: ENSMUSG00000055239
AA Change: R330S

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 probably benign
Transcript: ENSMUST00000204598
AA Change: R279S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000144910
Gene: ENSMUSG00000055239
AA Change: R279S

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 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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,488,754 (GRCm39) A1295V possibly damaging Het
Adgre4 T C 17: 56,106,602 (GRCm39) probably benign Het
Atp8b2 A T 3: 89,851,493 (GRCm39) Y901N probably damaging Het
Bud31 A G 5: 145,083,378 (GRCm39) T74A probably benign Het
C4b C A 17: 34,956,738 (GRCm39) probably benign Het
Ccdc92 G A 5: 124,912,753 (GRCm39) Q259* probably null Het
Ccn4 T C 15: 66,763,489 (GRCm39) probably benign Het
Chfr C A 5: 110,291,475 (GRCm39) Q98K probably benign Het
Ciita T A 16: 10,338,823 (GRCm39) probably benign Het
Cnbd2 A T 2: 156,209,592 (GRCm39) I512F possibly damaging Het
Cpa2 A G 6: 30,557,726 (GRCm39) Y346C probably damaging Het
Cpxm1 A G 2: 130,235,109 (GRCm39) L570P probably damaging Het
Cylc1 G A X: 110,166,370 (GRCm39) G217D unknown Het
Dennd2a T C 6: 39,485,182 (GRCm39) I366V probably damaging Het
Dis3 A T 14: 99,327,426 (GRCm39) M359K possibly damaging Het
Dock10 T C 1: 80,545,088 (GRCm39) N848S probably damaging Het
Dyrk3 C T 1: 131,056,815 (GRCm39) V453I probably benign Het
Ercc5 A G 1: 44,206,161 (GRCm39) E358G probably damaging Het
Fam167b C A 4: 129,471,960 (GRCm39) C70F possibly damaging Het
Flt1 G T 5: 147,618,734 (GRCm39) Y200* probably null Het
Garin4 A T 1: 190,895,141 (GRCm39) S501T probably benign Het
Ggh T C 4: 20,065,770 (GRCm39) V288A probably benign Het
Glb1l2 T C 9: 26,717,586 (GRCm39) probably benign Het
Gm28042 A G 2: 119,862,637 (GRCm39) Y302C probably damaging Het
Gsta2 A G 9: 78,241,192 (GRCm39) probably benign Het
Idh3b T A 2: 130,126,321 (GRCm39) N6I probably benign Het
Irs4 A G X: 140,505,524 (GRCm39) S891P unknown Het
Kif26a G T 12: 112,142,208 (GRCm39) E821* probably null Het
L3mbtl1 A G 2: 162,809,303 (GRCm39) E670G probably damaging Het
Met A T 6: 17,558,765 (GRCm39) D1131V probably damaging Het
Neo1 T C 9: 58,785,342 (GRCm39) E1428G probably damaging Het
Odf2 A G 2: 29,813,657 (GRCm39) probably benign Het
Ogfod1 T A 8: 94,782,766 (GRCm39) L294H possibly damaging Het
Or8d1b G T 9: 38,887,514 (GRCm39) V181F probably benign Het
Pcdhb20 A T 18: 37,637,851 (GRCm39) I126L possibly damaging Het
Pcdhb9 A T 18: 37,534,330 (GRCm39) Q108L probably benign Het
Prdm10 G T 9: 31,260,481 (GRCm39) R645L probably damaging Het
Psmb11 T A 14: 54,863,236 (GRCm39) C151* probably null Het
Reep1 T A 6: 71,784,765 (GRCm39) probably benign Het
Reg3a G A 6: 78,358,939 (GRCm39) A46T possibly damaging Het
Rnf213 T A 11: 119,331,913 (GRCm39) I2374N probably damaging Het
Slc17a7 T C 7: 44,820,363 (GRCm39) Y273H probably damaging Het
Smg6 T A 11: 74,826,260 (GRCm39) Y238* probably null Het
Sorcs1 T A 19: 50,248,194 (GRCm39) K411* probably null Het
Spta1 G T 1: 174,008,624 (GRCm39) A243S probably benign Het
Tas2r135 A T 6: 42,378,061 (GRCm39) probably benign Het
Tbx18 T C 9: 87,612,882 (GRCm39) R6G probably damaging Het
Timp3 A G 10: 86,136,815 (GRCm39) D33G possibly damaging Het
Ttf1 A G 2: 28,961,357 (GRCm39) K582E probably damaging Het
Ubr5 C A 15: 38,041,150 (GRCm39) probably benign Het
Ugt2b1 A G 5: 87,074,200 (GRCm39) V53A possibly damaging Het
Ush2a G T 1: 188,530,035 (GRCm39) G3275W probably damaging Het
Usp19 G A 9: 108,376,329 (GRCm39) V1023M probably benign Het
Usp26 T C X: 50,846,135 (GRCm39) I47V possibly damaging Het
Vapa A G 17: 65,901,902 (GRCm39) V76A probably damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vps13a T C 19: 16,646,058 (GRCm39) N1993S probably damaging Het
Wdr59 G A 8: 112,202,750 (GRCm39) R598C probably damaging Het
Other mutations in Kcmf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02903:Kcmf1 APN 6 72,835,866 (GRCm39) missense possibly damaging 0.95
IGL03372:Kcmf1 APN 6 72,826,546 (GRCm39) missense probably damaging 0.99
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