Incidental Mutation 'IGL01839:Kmt5a'
ID155048
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kmt5a
Ensembl Gene ENSMUSG00000049327
Gene Namelysine methyltransferase 5A
SynonymsPR-SET7, Setd8, 2410195B05Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01839
Quality Score
Status
Chromosome5
Chromosomal Location124439930-124462308 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 124451354 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 205 (K205R)
Ref Sequence ENSEMBL: ENSMUSP00000098275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059580] [ENSMUST00000100709] [ENSMUST00000198451] [ENSMUST00000199798]
Predicted Effect probably benign
Transcript: ENSMUST00000059580
AA Change: K191R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000052953
Gene: ENSMUSG00000049327
AA Change: K191R

DomainStartEndE-ValueType
low complexity region 12 24 N/A INTRINSIC
Blast:SET 87 197 2e-44 BLAST
SET 214 341 1.4e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100709
AA Change: K205R

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000098275
Gene: ENSMUSG00000049327
AA Change: K205R

DomainStartEndE-ValueType
low complexity region 4 49 N/A INTRINSIC
Blast:SET 101 211 1e-44 BLAST
SET 228 355 1.4e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135667
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154031
Predicted Effect probably benign
Transcript: ENSMUST00000198451
AA Change: K136R

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143207
Gene: ENSMUSG00000049327
AA Change: K136R

DomainStartEndE-ValueType
Blast:SET 32 142 3e-45 BLAST
SET 159 286 9e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199798
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a protein-lysine N-methyltransferase that can monomethylate Lys-20 of histone H4 to effect transcriptional repression of some genes. The encoded protein is required for cell proliferation and plays a role in chromatin condensation. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality. Mice homozygous for an allele lacking exon 7 die prior to implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a T A 12: 113,544,622 L205Q probably benign Het
Cadps G T 14: 12,467,184 probably benign Het
Cfap69 G A 5: 5,626,027 Q223* probably null Het
Col11a2 G A 17: 34,064,082 probably benign Het
Col3a1 T C 1: 45,311,830 V28A unknown Het
Cyp17a1 A G 19: 46,670,671 I177T possibly damaging Het
Exoc2 A G 13: 30,906,799 L274P probably damaging Het
Fastkd3 A G 13: 68,584,852 R431G probably benign Het
Fat3 T C 9: 15,997,872 N2278S probably damaging Het
Ift172 G T 5: 31,266,350 A756E probably damaging Het
Igf2r T C 17: 12,705,022 Y1087C probably damaging Het
Khdrbs2 T C 1: 32,414,862 probably benign Het
Lrrc45 A T 11: 120,717,149 probably null Het
Ltbp2 T C 12: 84,793,658 S1045G possibly damaging Het
Nfib T C 4: 82,310,370 M505V probably benign Het
Oit3 C T 10: 59,429,496 V316I probably damaging Het
Olfr1475 T C 19: 13,479,440 T253A probably benign Het
Olfr397 T A 11: 73,964,611 M1K probably null Het
Pcdhb5 A T 18: 37,321,449 N294I probably damaging Het
Pld4 A T 12: 112,765,079 H222L probably damaging Het
Sacs T C 14: 61,183,945 probably benign Het
Sgms2 T C 3: 131,342,102 K41R possibly damaging Het
Slc17a2 T C 13: 23,812,685 S58P possibly damaging Het
Slc22a4 A T 11: 53,996,077 S280T probably damaging Het
Slc7a15 C T 12: 8,539,365 G61S probably damaging Het
Trrap A G 5: 144,821,875 K2190E probably damaging Het
Ttn C A 2: 76,814,358 Q13017H probably damaging Het
Other mutations in Kmt5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Kmt5a APN 5 124451380 splice site probably benign
R0540:Kmt5a UTSW 5 124451310 missense probably damaging 1.00
R0743:Kmt5a UTSW 5 124447219 missense probably damaging 1.00
R1470:Kmt5a UTSW 5 124447271 missense probably damaging 0.97
R1470:Kmt5a UTSW 5 124447271 missense probably damaging 0.97
R1496:Kmt5a UTSW 5 124459885 frame shift probably null
R1676:Kmt5a UTSW 5 124459885 frame shift probably null
R6596:Kmt5a UTSW 5 124450696 missense probably benign 0.06
R7582:Kmt5a UTSW 5 124459919 missense probably benign 0.04
Posted On2014-02-04