Incidental Mutation 'IGL02903:Kcmf1'
ID363686
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcmf1
Ensembl Gene ENSMUSG00000055239
Gene Namepotassium channel modulatory factor 1
Synonyms1700094M07Rik, clone DEBT-91, Pmcf
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.960) question?
Stock #IGL02903
Quality Score
Status
Chromosome6
Chromosomal Location72841114-72899979 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 72858883 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 21 (V21E)
Ref Sequence ENSEMBL: ENSMUSP00000144910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068697] [ENSMUST00000204598] [ENSMUST00000204708] [ENSMUST00000206378]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068697
AA Change: V72E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000064410
Gene: ENSMUSG00000055239
AA Change: V72E

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: ENSMUST00000203431
Predicted Effect possibly damaging
Transcript: ENSMUST00000204598
AA Change: V21E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144910
Gene: ENSMUSG00000055239
AA Change: V21E

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 possibly damaging
Transcript: ENSMUST00000206378
AA Change: V72E

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G T 15: 8,269,778 R3150M unknown Het
2410089E03Rik G T 15: 8,269,779 R3150S unknown Het
4931417E11Rik A G 6: 73,469,120 Y149H probably damaging Het
Alox5 T G 6: 116,420,335 N296T probably damaging Het
Anks6 C T 4: 47,045,004 E301K probably damaging Het
Astn1 A G 1: 158,688,550 S1237G probably damaging Het
Atf6 G A 1: 170,799,714 P394S probably benign Het
Atp4a G A 7: 30,715,919 M321I probably benign Het
C4bp G A 1: 130,655,985 T82I probably damaging Het
Cask A T X: 13,552,447 probably benign Het
Cenpf A T 1: 189,646,876 S2906T probably damaging Het
Cfl1 T C 19: 5,492,800 F103L probably benign Het
Chrnb3 A T 8: 27,386,806 T83S probably damaging Het
Cmtr2 A G 8: 110,222,878 T607A probably benign Het
Cts7 A T 13: 61,356,626 probably benign Het
Dgkz A T 2: 91,939,962 Y514N possibly damaging Het
Dmrtc1b T A X: 102,713,567 L206Q probably benign Het
Dus3l C T 17: 56,768,363 L397F probably damaging Het
Fam159b T A 13: 104,863,610 Y35F probably benign Het
Gm13089 A T 4: 143,699,166 M69K probably benign Het
Gm6356 C T 14: 6,973,735 G27E probably damaging Het
Hkdc1 C T 10: 62,400,191 probably null Het
Kcnh4 T A 11: 100,757,654 T75S possibly damaging Het
Lemd2 A G 17: 27,193,210 probably benign Het
Magee1 G T X: 105,123,339 R910L probably damaging Het
Mcm3ap T C 10: 76,471,258 probably benign Het
Mfsd4b3 T A 10: 39,947,643 E207V possibly damaging Het
Olfr1354 A G 10: 78,917,416 D192G probably damaging Het
Olfr697 A G 7: 106,741,710 S75P probably damaging Het
Pappa T C 4: 65,261,980 V1026A probably damaging Het
Paxip1 A G 5: 27,748,872 L942P probably damaging Het
Ppp1r12b A T 1: 134,955,649 L45Q probably benign Het
Ptprq T C 10: 107,666,586 T824A possibly damaging Het
Rfwd3 T C 8: 111,278,229 T574A probably benign Het
Rsbn1 T C 3: 103,928,569 S308P probably damaging Het
Smr2 A T 5: 88,108,630 I56F probably benign Het
Wdfy4 C T 14: 33,109,650 R873H probably damaging Het
Other mutations in Kcmf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03057:Kcmf1 APN 6 72843027 missense probably benign 0.02
IGL03372:Kcmf1 APN 6 72849563 missense probably damaging 0.99
IGL03098:Kcmf1 UTSW 6 72849584 start codon destroyed probably null
R0080:Kcmf1 UTSW 6 72850487 splice site probably null
R0082:Kcmf1 UTSW 6 72850487 splice site probably null
R0226:Kcmf1 UTSW 6 72842952 missense probably benign
R0402:Kcmf1 UTSW 6 72849585 start codon destroyed probably null
R0412:Kcmf1 UTSW 6 72848241 nonsense probably null
R0616:Kcmf1 UTSW 6 72850484 missense probably benign 0.08
R1087:Kcmf1 UTSW 6 72858880 missense probably damaging 1.00
R1383:Kcmf1 UTSW 6 72849582 missense possibly damaging 0.94
R1533:Kcmf1 UTSW 6 72843020 missense possibly damaging 0.49
R1544:Kcmf1 UTSW 6 72848229 missense probably benign
R2355:Kcmf1 UTSW 6 72850483 missense probably damaging 1.00
R2380:Kcmf1 UTSW 6 72858772 critical splice donor site probably null
R3103:Kcmf1 UTSW 6 72861847 missense probably damaging 1.00
R4533:Kcmf1 UTSW 6 72849591 missense probably damaging 1.00
R5450:Kcmf1 UTSW 6 72842930 nonsense probably null
R5927:Kcmf1 UTSW 6 72843005 missense possibly damaging 0.49
R6467:Kcmf1 UTSW 6 72843099 missense probably damaging 0.99
R7048:Kcmf1 UTSW 6 72849467 missense probably damaging 1.00
R7089:Kcmf1 UTSW 6 72842946 missense probably benign 0.26
R7089:Kcmf1 UTSW 6 72848306 missense probably benign 0.00
Posted On2015-12-18