Incidental Mutation 'R5982:Kmt5c'
ID 481449
Institutional Source Beutler Lab
Gene Symbol Kmt5c
Ensembl Gene ENSMUSG00000059851
Gene Name lysine methyltransferase 5C
Synonyms Suv420h2, Suv4-20h2
MMRRC Submission 044163-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5982 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 4743114-4750513 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 4749790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 436 (K436T)
Ref Sequence ENSEMBL: ENSMUSP00000104224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098853] [ENSMUST00000108582] [ENSMUST00000108583] [ENSMUST00000128018] [ENSMUST00000160480] [ENSMUST00000130215]
AlphaFold Q6Q783
Predicted Effect probably damaging
Transcript: ENSMUST00000098853
AA Change: K436T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096452
Gene: ENSMUSG00000059851
AA Change: K436T

DomainStartEndE-ValueType
Blast:SET 6 50 1e-10 BLAST
SET 110 224 1.17e-14 SMART
low complexity region 268 281 N/A INTRINSIC
low complexity region 327 343 N/A INTRINSIC
low complexity region 411 427 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108582
AA Change: K436T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104223
Gene: ENSMUSG00000059851
AA Change: K436T

DomainStartEndE-ValueType
Blast:SET 6 50 1e-10 BLAST
SET 110 224 1.17e-14 SMART
low complexity region 268 281 N/A INTRINSIC
low complexity region 327 343 N/A INTRINSIC
low complexity region 411 427 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108583
AA Change: K436T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104224
Gene: ENSMUSG00000059851
AA Change: K436T

DomainStartEndE-ValueType
Blast:SET 6 50 1e-10 BLAST
SET 110 224 1.17e-14 SMART
low complexity region 268 281 N/A INTRINSIC
low complexity region 327 343 N/A INTRINSIC
low complexity region 411 427 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128018
SMART Domains Protein: ENSMUSP00000114445
Gene: ENSMUSG00000059851

DomainStartEndE-ValueType
Blast:SET 1 32 4e-15 BLAST
PDB:4AU7|B 1 54 5e-33 PDB
low complexity region 76 89 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129927
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130200
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135541
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152431
Predicted Effect probably benign
Transcript: ENSMUST00000160480
SMART Domains Protein: ENSMUSP00000124663
Gene: ENSMUSG00000059851

DomainStartEndE-ValueType
PDB:4AU7|B 1 36 2e-18 PDB
Blast:SET 6 36 3e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000130215
SMART Domains Protein: ENSMUSP00000119323
Gene: ENSMUSG00000059851

DomainStartEndE-ValueType
PDB:4AU7|B 1 164 1e-110 PDB
Blast:SET 32 133 5e-35 BLAST
Meta Mutation Damage Score 0.2379 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 98% (81/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SUV420H2 and the related enzyme SUV420H1 (MIM 610881) function as histone methyltransferases that specifically trimethylate nucleosomal histone H4 (see MIM 602822) on lysine-20 (K20) (Schotta et al., 2004 [PubMed 15145825]).[supplied by OMIM, Dec 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no apparent defects and develop normally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,844,423 (GRCm39) E931D possibly damaging Het
Aebp1 C T 11: 5,817,911 (GRCm39) T62I possibly damaging Het
Babam2 A T 5: 31,977,964 (GRCm39) E139V possibly damaging Het
Bclaf1 C T 10: 20,198,809 (GRCm39) R67* probably null Het
Bcr C A 10: 75,012,248 (GRCm39) T51K probably benign Het
Best3 T A 10: 116,840,322 (GRCm39) C251S probably damaging Het
Birc6 A G 17: 74,955,153 (GRCm39) M3457V probably benign Het
C87436 C A 6: 86,422,957 (GRCm39) T177K possibly damaging Het
Cabin1 T A 10: 75,561,394 (GRCm39) T1036S probably benign Het
Catsperg2 C A 7: 29,412,442 (GRCm39) V383L possibly damaging Het
Ccdc182 C T 11: 88,185,165 (GRCm39) Q82* probably null Het
Ccl9 T C 11: 83,466,700 (GRCm39) T76A probably damaging Het
Cdc16 G T 8: 13,831,399 (GRCm39) C544F possibly damaging Het
Cdh18 A C 15: 23,474,302 (GRCm39) D724A possibly damaging Het
Cdip1 G A 16: 4,587,946 (GRCm39) P6S probably damaging Het
Col12a1 A G 9: 79,537,842 (GRCm39) V2542A probably damaging Het
Dnajc13 G T 9: 104,061,814 (GRCm39) T1380K possibly damaging Het
Dsg4 T A 18: 20,598,226 (GRCm39) S715T possibly damaging Het
Dync2h1 G T 9: 6,955,986 (GRCm39) T4132K probably benign Het
Egfem1 A T 3: 29,711,419 (GRCm39) probably null Het
Etl4 G T 2: 20,785,826 (GRCm39) V716L probably damaging Het
Exoc3l2 A G 7: 19,213,957 (GRCm39) E461G unknown Het
Fam135b A G 15: 71,320,518 (GRCm39) probably null Het
Flrt3 G T 2: 140,502,836 (GRCm39) P264Q possibly damaging Het
Fmn2 G C 1: 174,330,019 (GRCm39) E136D unknown Het
Fosl2 A G 5: 32,304,217 (GRCm39) I51V probably benign Het
Foxm1 A G 6: 128,347,998 (GRCm39) T307A probably damaging Het
Garem1 T C 18: 21,281,408 (GRCm39) D316G possibly damaging Het
Gm14403 A T 2: 177,200,345 (GRCm39) H97L probably damaging Het
Gm5616 A G 9: 48,361,890 (GRCm39) noncoding transcript Het
Hkdc1 T C 10: 62,229,589 (GRCm39) D696G probably benign Het
Igkv1-88 C A 6: 68,839,432 (GRCm39) W60L probably damaging Het
Iqgap3 G A 3: 87,998,899 (GRCm39) W333* probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnk3 G T 5: 30,780,014 (GRCm39) V355L probably benign Het
Lynx1 T C 15: 74,623,264 (GRCm39) Y56C possibly damaging Het
Lypd5 T C 7: 24,052,462 (GRCm39) S149P probably damaging Het
Map3k21 A T 8: 126,638,169 (GRCm39) N252Y probably damaging Het
Mgat2 T C 12: 69,232,454 (GRCm39) W343R probably damaging Het
Misp T G 10: 79,663,728 (GRCm39) Y567* probably null Het
Mrgprb1 A T 7: 48,097,568 (GRCm39) S115T probably benign Het
Muc16 A C 9: 18,558,442 (GRCm39) I2617R unknown Het
Myo19 T A 11: 84,790,226 (GRCm39) V394E probably damaging Het
Myo9b T A 8: 71,801,040 (GRCm39) L1065Q probably benign Het
Nap1l1 A G 10: 111,331,229 (GRCm39) D405G possibly damaging Het
Napb A T 2: 148,542,411 (GRCm39) probably null Het
Nbas A G 12: 13,443,431 (GRCm39) Y1162C probably benign Het
Nfam1 A T 15: 82,917,325 (GRCm39) L36Q probably damaging Het
Nrros T C 16: 31,963,411 (GRCm39) D202G probably damaging Het
Or51k1 T G 7: 103,661,117 (GRCm39) H264P probably damaging Het
Or7a39 T G 10: 78,715,787 (GRCm39) Y260* probably null Het
Osgin2 T C 4: 15,998,908 (GRCm39) E238G probably benign Het
Papss2 A G 19: 32,616,636 (GRCm39) T221A probably benign Het
Pcdhga12 A C 18: 37,901,084 (GRCm39) K639Q probably damaging Het
Pkhd1l1 T A 15: 44,352,900 (GRCm39) probably null Het
Pmepa1 A G 2: 173,076,105 (GRCm39) S83P possibly damaging Het
Pnp G A 14: 51,188,000 (GRCm39) V118M probably damaging Het
Ppat T C 5: 77,063,112 (GRCm39) T500A probably benign Het
Pramel22 C A 4: 143,381,034 (GRCm39) V330F probably damaging Het
Rab11fip4 A G 11: 79,581,601 (GRCm39) N532S probably benign Het
Rbm25 A G 12: 83,718,725 (GRCm39) D499G probably damaging Het
Rnf139 A G 15: 58,770,687 (GRCm39) I237M possibly damaging Het
Rrp15 C T 1: 186,471,952 (GRCm39) S85N possibly damaging Het
Sidt1 T C 16: 44,082,071 (GRCm39) Y568C probably damaging Het
Slirp A G 12: 87,490,784 (GRCm39) T29A probably damaging Het
Sltm G C 9: 70,494,086 (GRCm39) E828Q probably damaging Het
Spindoc A G 19: 7,351,960 (GRCm39) I129T probably damaging Het
Spire1 T A 18: 67,630,386 (GRCm39) probably null Het
Styx A G 14: 45,605,909 (GRCm39) T138A probably benign Het
Sv2c A T 13: 96,112,571 (GRCm39) L642* probably null Het
Taf7 T C 18: 37,776,498 (GRCm39) E23G probably damaging Het
Tcp10a A T 17: 7,612,425 (GRCm39) T406S possibly damaging Het
Tnrc6b T A 15: 80,765,017 (GRCm39) S840T probably benign Het
Tns3 A G 11: 8,442,245 (GRCm39) I706T probably damaging Het
Tpsab1 A G 17: 25,564,346 (GRCm39) V36A probably benign Het
Trafd1 T A 5: 121,511,342 (GRCm39) D492V probably damaging Het
Trp53 A G 11: 69,478,244 (GRCm39) E51G probably benign Het
Vdr C T 15: 97,755,477 (GRCm39) A349T probably benign Het
Vmn2r59 T C 7: 41,695,491 (GRCm39) D307G probably benign Het
Zfp365 C A 10: 67,733,437 (GRCm39) V252F probably damaging Het
Zfp830 T A 11: 82,655,803 (GRCm39) N202K probably benign Het
Other mutations in Kmt5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Kmt5c APN 7 4,745,140 (GRCm39) nonsense probably null
R0010:Kmt5c UTSW 7 4,749,207 (GRCm39) missense probably benign 0.09
R0349:Kmt5c UTSW 7 4,749,594 (GRCm39) missense probably damaging 0.98
R0400:Kmt5c UTSW 7 4,749,243 (GRCm39) missense probably benign 0.02
R1402:Kmt5c UTSW 7 4,745,252 (GRCm39) missense possibly damaging 0.62
R1402:Kmt5c UTSW 7 4,745,252 (GRCm39) missense possibly damaging 0.62
R1599:Kmt5c UTSW 7 4,744,899 (GRCm39) missense probably damaging 1.00
R1657:Kmt5c UTSW 7 4,749,453 (GRCm39) nonsense probably null
R1799:Kmt5c UTSW 7 4,745,729 (GRCm39) critical splice donor site probably null
R1892:Kmt5c UTSW 7 4,745,714 (GRCm39) nonsense probably null
R3855:Kmt5c UTSW 7 4,749,255 (GRCm39) missense probably damaging 1.00
R6306:Kmt5c UTSW 7 4,749,480 (GRCm39) missense probably benign 0.35
R6357:Kmt5c UTSW 7 4,745,204 (GRCm39) missense possibly damaging 0.94
R6563:Kmt5c UTSW 7 4,745,628 (GRCm39) missense probably damaging 1.00
R7106:Kmt5c UTSW 7 4,745,705 (GRCm39) missense probably damaging 1.00
R7904:Kmt5c UTSW 7 4,749,158 (GRCm39) missense probably damaging 0.99
R8706:Kmt5c UTSW 7 4,749,153 (GRCm39) missense probably damaging 1.00
R8777:Kmt5c UTSW 7 4,745,712 (GRCm39) missense possibly damaging 0.93
R8777-TAIL:Kmt5c UTSW 7 4,745,712 (GRCm39) missense possibly damaging 0.93
R9050:Kmt5c UTSW 7 4,745,281 (GRCm39) missense probably benign 0.09
Z1177:Kmt5c UTSW 7 4,749,699 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGATTACTTGCCCCTTTGG -3'
(R):5'- TCAGCTCTCTAGGGATGTCC -3'

Sequencing Primer
(F):5'- AGGATCCGCCAGGCTTCATTG -3'
(R):5'- ATCAGACCTGGGTCAGCTCTC -3'
Posted On 2017-06-26