Incidental Mutation 'R0082:Kcmf1'
ID 60625
Institutional Source Beutler Lab
Gene Symbol Kcmf1
Ensembl Gene ENSMUSG00000055239
Gene Name potassium channel modulatory factor 1
Synonyms 1700094M07Rik, Pmcf, clone DEBT-91
MMRRC Submission 038369-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R0082 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 72818097-72876962 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 72827470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068697] [ENSMUST00000204598] [ENSMUST00000204708] [ENSMUST00000206378]
AlphaFold Q80UY2
Predicted Effect probably null
Transcript: ENSMUST00000068697
SMART Domains Protein: ENSMUSP00000064410
Gene: ENSMUSG00000055239

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 null
Transcript: ENSMUST00000204598
SMART Domains Protein: ENSMUSP00000144910
Gene: ENSMUSG00000055239

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 null
Transcript: ENSMUST00000204708
Predicted Effect probably benign
Transcript: ENSMUST00000206378
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.3%
  • 10x: 91.7%
  • 20x: 73.7%
Validation Efficiency 94% (136/144)
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
Adam17 A C 12: 21,379,049 (GRCm39) probably benign Het
Adcy1 T C 11: 7,099,497 (GRCm39) probably benign Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Ankrd33b T C 15: 31,297,935 (GRCm39) N274S probably benign Het
Antkmt T C 17: 26,010,548 (GRCm39) I89V probably benign Het
Arhgef1 C T 7: 24,612,030 (GRCm39) Q100* probably null Het
Ccdc180 A G 4: 45,896,205 (GRCm39) D118G probably null Het
Cdh23 T C 10: 60,148,366 (GRCm39) D2667G probably damaging Het
Cdh4 A T 2: 179,535,981 (GRCm39) N844I possibly damaging Het
Cep57 T C 9: 13,722,172 (GRCm39) probably benign Het
Dnah7a A T 1: 53,557,867 (GRCm39) D2182E probably damaging Het
Dync1h1 A G 12: 110,602,880 (GRCm39) T2174A probably benign Het
Eef1akmt2 T A 7: 132,453,201 (GRCm39) R44* probably null Het
Evpl T A 11: 116,125,829 (GRCm39) I43F probably damaging Het
F13a1 G T 13: 37,172,927 (GRCm39) P151Q probably damaging Het
Galnt5 A T 2: 57,889,047 (GRCm39) I216F possibly damaging Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Gpr139 T A 7: 118,744,268 (GRCm39) T106S probably benign Het
Hoatz T C 9: 51,013,102 (GRCm39) T57A probably benign Het
Hoxb3 A G 11: 96,235,097 (GRCm39) D8G probably damaging Het
Hpse T C 5: 100,840,128 (GRCm39) K330E possibly damaging Het
Klra2 T C 6: 131,197,210 (GRCm39) N263S possibly damaging Het
Klra8 T C 6: 130,102,018 (GRCm39) D139G probably benign Het
Lrrc46 A C 11: 96,931,903 (GRCm39) probably benign Het
Ly86 A T 13: 37,602,513 (GRCm39) probably null Het
Mmp20 C T 9: 7,642,808 (GRCm39) T214M probably benign Het
Or4k5 A T 14: 50,385,512 (GRCm39) I273K probably damaging Het
Or52s1b G T 7: 102,822,409 (GRCm39) A145E probably benign Het
Or6c1b T C 10: 129,273,140 (GRCm39) I153T possibly damaging Het
Or6c209 G A 10: 129,483,522 (GRCm39) C175Y probably benign Het
Pigg A G 5: 108,460,751 (GRCm39) probably benign Het
Polq C A 16: 36,837,619 (GRCm39) T177K probably benign Het
Pomgnt2 A T 9: 121,811,326 (GRCm39) V485E probably damaging Het
Ppip5k2 A T 1: 97,687,057 (GRCm39) C49* probably null Het
Prkrip1 T C 5: 136,226,682 (GRCm39) N53D possibly damaging Het
Prrc2b T C 2: 32,102,310 (GRCm39) probably benign Het
Qprt T C 7: 126,707,358 (GRCm39) E246G probably damaging Het
Rpl9 A G 5: 65,545,995 (GRCm39) V167A probably benign Het
Rskr T C 11: 78,184,384 (GRCm39) S244P probably damaging Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sgsm1 T C 5: 113,436,702 (GRCm39) I43V probably benign Het
Slc38a7 A G 8: 96,567,109 (GRCm39) probably benign Het
Slc8b1 A G 5: 120,662,265 (GRCm39) probably benign Het
Sp2 T C 11: 96,852,525 (GRCm39) Y133C probably damaging Het
Spdye4b A T 5: 143,181,430 (GRCm39) D95V probably damaging Het
Srek1 T C 13: 103,880,194 (GRCm39) T455A unknown Het
Stox2 A T 8: 47,656,317 (GRCm39) probably benign Het
Synrg T A 11: 83,878,736 (GRCm39) probably benign Het
Tie1 T A 4: 118,341,550 (GRCm39) E254V probably damaging Het
Tmem97 G T 11: 78,433,414 (GRCm39) F160L probably damaging Het
Utp6 A T 11: 79,844,457 (GRCm39) H189Q possibly damaging Het
Vip T A 10: 5,594,953 (GRCm39) *172R probably null Het
Wdr91 T C 6: 34,883,620 (GRCm39) R132G possibly damaging Het
Wipi1 T C 11: 109,469,110 (GRCm39) probably benign Het
Zfp445 A G 9: 122,681,421 (GRCm39) V840A 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
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
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
Predicted Primers PCR Primer
(F):5'- ACCCTAAAGCACGGCACTGTATG -3'
(R):5'- TCAGCCCTACCGATAGACAACTCTG -3'

Sequencing Primer
(F):5'- CACGGCACTGTATGAAAAGGTC -3'
(R):5'- GATAGACAACTCTGCTGGAAATC -3'
Posted On 2013-07-24