Incidental Mutation 'R0412:Kcmf1'
ID 36709
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 038614-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R0412 (G1)
Quality Score 152
Status Validated
Chromosome 6
Chromosomal Location 72818097-72876962 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 72825224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 239 (Q239*)
Ref Sequence ENSEMBL: ENSMUSP00000144910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068697] [ENSMUST00000204598] [ENSMUST00000204708] [ENSMUST00000206378]
AlphaFold Q80UY2
Predicted Effect probably null
Transcript: ENSMUST00000068697
AA Change: Q290*
SMART Domains Protein: ENSMUSP00000064410
Gene: ENSMUSG00000055239
AA Change: Q290*

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
AA Change: Q239*
SMART Domains Protein: ENSMUSP00000144910
Gene: ENSMUSG00000055239
AA Change: Q239*

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: ENSMUST00000204708
Predicted Effect probably benign
Transcript: ENSMUST00000206378
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.2%
Validation Efficiency 94% (67/71)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap1 C A 7: 101,039,429 (GRCm39) A563D probably damaging Het
Arhgap28 G A 17: 68,203,253 (GRCm39) L67F probably damaging Het
Atp7b G T 8: 22,485,675 (GRCm39) probably null Het
Auts2 A G 5: 131,475,669 (GRCm39) F485L probably benign Het
Ccdc68 A G 18: 70,093,510 (GRCm39) E239G probably damaging Het
Cdc42bpg T G 19: 6,363,487 (GRCm39) L449R probably damaging Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Ddx41 G T 13: 55,678,421 (GRCm39) S630Y probably damaging Het
Dntt T C 19: 41,031,372 (GRCm39) L274P probably damaging Het
Fhl4 G T 10: 84,934,680 (GRCm39) H34N possibly damaging Het
Filip1 A T 9: 79,727,571 (GRCm39) N349K possibly damaging Het
Gm9894 C T 13: 67,913,145 (GRCm39) noncoding transcript Het
Gpr179 A G 11: 97,229,633 (GRCm39) S841P probably damaging Het
Gpr35 G T 1: 92,910,506 (GRCm39) V73L probably benign Het
Grik5 A G 7: 24,713,099 (GRCm39) V809A possibly damaging Het
H2-T13 T A 17: 36,392,413 (GRCm39) probably benign Het
Heatr5b T C 17: 79,128,283 (GRCm39) T451A probably benign Het
Hmcn2 G A 2: 31,278,259 (GRCm39) V1654M probably damaging Het
Htra3 G T 5: 35,828,409 (GRCm39) A157E probably damaging Het
Igf2r A T 17: 12,902,835 (GRCm39) V2405D probably damaging Het
Irs3 C A 5: 137,642,139 (GRCm39) R433L probably benign Het
Kcnk9 A G 15: 72,384,905 (GRCm39) probably benign Het
Kif28 A G 1: 179,530,091 (GRCm39) V622A probably benign Het
Klrb1f A T 6: 129,031,294 (GRCm39) I164F probably benign Het
Lama2 A G 10: 27,066,621 (GRCm39) S1087P possibly damaging Het
Mchr1 A T 15: 81,119,948 (GRCm39) probably benign Het
Mcidas A G 13: 113,135,677 (GRCm39) T367A probably damaging Het
Mphosph8 A C 14: 56,911,870 (GRCm39) K298Q probably damaging Het
Mroh2a G T 1: 88,162,938 (GRCm39) Q360H probably benign Het
Mst1 A C 9: 107,960,793 (GRCm39) D461A probably benign Het
Nckap1l A T 15: 103,373,079 (GRCm39) S311C probably benign Het
Or2y1 T A 11: 49,385,594 (GRCm39) V78E probably damaging Het
Or4c125 T A 2: 89,170,422 (GRCm39) M75L probably benign Het
Or5m9b C T 2: 85,905,435 (GRCm39) A117V probably benign Het
Or8c11 A C 9: 38,290,090 (GRCm39) K298N probably damaging Het
Pde3a T G 6: 141,444,410 (GRCm39) C1073G probably damaging Het
Pkhd1 T C 1: 20,188,012 (GRCm39) D3432G probably damaging Het
Ppargc1b G T 18: 61,448,932 (GRCm39) P130Q probably damaging Het
Ppp6r1 A G 7: 4,645,213 (GRCm39) I228T probably damaging Het
Pram1 A G 17: 33,860,480 (GRCm39) N349S probably benign Het
Ranbp6 C T 19: 29,789,483 (GRCm39) V290I possibly damaging Het
Rcan3 A T 4: 135,143,914 (GRCm39) probably null Het
Scn8a G C 15: 100,906,187 (GRCm39) probably benign Het
Slc12a5 C T 2: 164,835,982 (GRCm39) T900M probably benign Het
Srsf10 A G 4: 135,585,714 (GRCm39) Y55C probably damaging Het
Syt7 G T 19: 10,421,444 (GRCm39) E450* probably null Het
Tbrg4 T C 11: 6,573,832 (GRCm39) K130R probably benign Het
Tgm7 C A 2: 120,931,546 (GRCm39) V206F probably damaging Het
Tmem131l T C 3: 83,938,955 (GRCm39) D67G probably damaging Het
Ttc7 A G 17: 87,637,472 (GRCm39) K409R probably benign Het
Unc80 A T 1: 66,590,096 (GRCm39) probably benign Het
Vmn1r171 C T 7: 23,332,080 (GRCm39) L102F possibly damaging Het
Vmn2r59 A C 7: 41,695,916 (GRCm39) probably benign Het
Vsig2 A G 9: 37,453,986 (GRCm39) R191G probably damaging Het
Wdr86 T A 5: 24,923,232 (GRCm39) Q153H probably benign Het
Wdr87-ps C G 7: 29,229,995 (GRCm39) noncoding transcript Het
Xxylt1 T A 16: 30,826,616 (GRCm39) N233I probably damaging Het
Zfp160 A T 17: 21,247,139 (GRCm39) E563V probably damaging Het
Zfp345 T A 2: 150,315,323 (GRCm39) E71D probably benign Het
Zfp541 A G 7: 15,816,099 (GRCm39) D862G possibly damaging Het
Zfp639 A C 3: 32,571,259 (GRCm39) Q47P possibly 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
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
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'- GCAAGGCTCCAAGTTCTGAGTGAG -3'
(R):5'- TGGCACCAGGTTTTCCTGTCAAG -3'

Sequencing Primer
(F):5'- tttctcactaaacttgaaccttacc -3'
(R):5'- GGGGACAGCTTAACTCTTCAG -3'
Posted On 2013-05-09