Incidental Mutation 'IGL01839:Kmt5a'
ID 155048
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kmt5a
Ensembl Gene ENSMUSG00000049327
Gene Name lysine methyltransferase 5A
Synonyms 2410195B05Rik, PR-SET7, Setd8
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01839
Quality Score
Status
Chromosome 5
Chromosomal Location 124577993-124600371 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124589417 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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 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 noncoding transcript
Transcript: ENSMUST00000147692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154031
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147969
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: 113,508,242 (GRCm39) L205Q probably benign Het
Cadps G T 14: 12,467,184 (GRCm38) probably benign Het
Cfap69 G A 5: 5,676,027 (GRCm39) Q223* probably null Het
Col11a2 G A 17: 34,283,056 (GRCm39) probably benign Het
Col3a1 T C 1: 45,350,990 (GRCm39) V28A unknown Het
Cyp17a1 A G 19: 46,659,110 (GRCm39) I177T possibly damaging Het
Exoc2 A G 13: 31,090,782 (GRCm39) L274P probably damaging Het
Fastkd3 A G 13: 68,732,971 (GRCm39) R431G probably benign Het
Fat3 T C 9: 15,909,168 (GRCm39) N2278S probably damaging Het
Ift172 G T 5: 31,423,694 (GRCm39) A756E probably damaging Het
Igf2r T C 17: 12,923,909 (GRCm39) Y1087C probably damaging Het
Khdrbs2 T C 1: 32,453,943 (GRCm39) probably benign Het
Lrrc45 A T 11: 120,607,975 (GRCm39) probably null Het
Ltbp2 T C 12: 84,840,432 (GRCm39) S1045G possibly damaging Het
Nfib T C 4: 82,228,607 (GRCm39) M505V probably benign Het
Oit3 C T 10: 59,265,318 (GRCm39) V316I probably damaging Het
Or1e1f T A 11: 73,855,437 (GRCm39) M1K probably null Het
Or5b119 T C 19: 13,456,804 (GRCm39) T253A probably benign Het
Pcdhb5 A T 18: 37,454,502 (GRCm39) N294I probably damaging Het
Pld4 A T 12: 112,731,513 (GRCm39) H222L probably damaging Het
Sacs T C 14: 61,421,394 (GRCm39) probably benign Het
Sgms2 T C 3: 131,135,751 (GRCm39) K41R possibly damaging Het
Slc22a4 A T 11: 53,886,903 (GRCm39) S280T probably damaging Het
Slc34a1 T C 13: 23,996,668 (GRCm39) S58P possibly damaging Het
Slc7a15 C T 12: 8,589,365 (GRCm39) G61S probably damaging Het
Trrap A G 5: 144,758,685 (GRCm39) K2190E probably damaging Het
Ttn C A 2: 76,644,702 (GRCm39) Q13017H probably damaging Het
Other mutations in Kmt5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Kmt5a APN 5 124,589,443 (GRCm39) splice site probably benign
R0540:Kmt5a UTSW 5 124,589,373 (GRCm39) missense probably damaging 1.00
R0743:Kmt5a UTSW 5 124,585,282 (GRCm39) missense probably damaging 1.00
R1470:Kmt5a UTSW 5 124,585,334 (GRCm39) missense probably damaging 0.97
R1470:Kmt5a UTSW 5 124,585,334 (GRCm39) missense probably damaging 0.97
R1496:Kmt5a UTSW 5 124,597,948 (GRCm39) frame shift probably null
R1676:Kmt5a UTSW 5 124,597,948 (GRCm39) frame shift probably null
R6596:Kmt5a UTSW 5 124,588,759 (GRCm39) missense probably benign 0.06
R7582:Kmt5a UTSW 5 124,597,982 (GRCm39) missense probably benign 0.04
R8534:Kmt5a UTSW 5 124,598,635 (GRCm39) missense probably benign 0.02
R8786:Kmt5a UTSW 5 124,584,074 (GRCm39) missense probably benign 0.00
R9201:Kmt5a UTSW 5 124,597,912 (GRCm39) missense probably damaging 1.00
R9377:Kmt5a UTSW 5 124,578,064 (GRCm39) start gained probably benign
R9655:Kmt5a UTSW 5 124,589,393 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04