Incidental Mutation 'R8777-TAIL:Kmt5c'
ID 668111
Institutional Source Beutler Lab
Gene Symbol Kmt5c
Ensembl Gene ENSMUSG00000059851
Gene Name lysine methyltransferase 5C
Synonyms Suv420h2, Suv4-20h2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8777-TAIL
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 4743114-4750513 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4745712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 124 (V124A)
Ref Sequence ENSEMBL: ENSMUSP00000096452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098853] [ENSMUST00000108582] [ENSMUST00000108583] [ENSMUST00000128018] [ENSMUST00000130215] [ENSMUST00000160480]
AlphaFold Q6Q783
PDB Structure The structure of the Suv4-20h2 ternary complex with histone H4 [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000098853
AA Change: V124A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096452
Gene: ENSMUSG00000059851
AA Change: V124A

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 possibly damaging
Transcript: ENSMUST00000108582
AA Change: V124A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104223
Gene: ENSMUSG00000059851
AA Change: V124A

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 possibly damaging
Transcript: ENSMUST00000108583
AA Change: V124A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104224
Gene: ENSMUSG00000059851
AA Change: V124A

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 possibly damaging
Transcript: ENSMUST00000130215
AA Change: V124A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119323
Gene: ENSMUSG00000059851
AA Change: V124A

DomainStartEndE-ValueType
PDB:4AU7|B 1 164 1e-110 PDB
Blast:SET 32 133 5e-35 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000160480
AA Change: C69R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124663
Gene: ENSMUSG00000059851
AA Change: C69R

DomainStartEndE-ValueType
PDB:4AU7|B 1 36 2e-18 PDB
Blast:SET 6 36 3e-10 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,989,894 (GRCm39) T816S probably benign Het
Aff4 G A 11: 53,290,783 (GRCm39) S581N probably damaging Het
Aimp2 G A 5: 143,839,825 (GRCm39) A253V probably damaging Het
Arl6ip4 T G 5: 124,254,611 (GRCm39) S35A probably benign Het
Atp1a4 A T 1: 172,059,869 (GRCm39) Y787N probably damaging Het
Btbd8 T G 5: 107,658,293 (GRCm39) I1621R probably damaging Het
Ccdc169 T C 3: 55,058,334 (GRCm39) S13P probably damaging Het
Ccdc186 G A 19: 56,801,793 (GRCm39) S108F probably damaging Het
Ccdc39 G A 3: 33,893,282 (GRCm39) T101I probably benign Het
Cdh13 G T 8: 119,963,706 (GRCm39) probably null Het
Clec1b A T 6: 129,380,537 (GRCm39) E151V probably benign Het
Cplx1 T A 5: 108,673,435 (GRCm39) probably null Het
Diablo T A 5: 123,655,990 (GRCm39) I150F unknown Het
Esp31 T C 17: 38,955,582 (GRCm39) V75A probably benign Het
Gm49336 G A 14: 60,466,185 (GRCm39) L458F probably damaging Het
Grin3b A T 10: 79,808,972 (GRCm39) S241C possibly damaging Het
Gxylt2 A G 6: 100,727,432 (GRCm39) N182S probably damaging Het
Hephl1 T G 9: 14,972,090 (GRCm39) D950A probably benign Het
Hkdc1 A G 10: 62,234,612 (GRCm39) I556T possibly damaging Het
Ints4 C A 7: 97,134,227 (GRCm39) A53D probably damaging Het
Lrpprc T A 17: 85,058,657 (GRCm39) Q734H probably benign Het
Map1b T C 13: 99,567,304 (GRCm39) T1806A unknown Het
Mcmbp A T 7: 128,308,855 (GRCm39) F389I probably damaging Het
Mcrs1 C T 15: 99,141,237 (GRCm39) G422S probably damaging Het
Mgam A G 6: 40,632,185 (GRCm39) H173R probably damaging Het
Mib1 G A 18: 10,747,422 (GRCm39) G200S probably benign Het
Myh13 A T 11: 67,252,161 (GRCm39) Q1423L possibly damaging Het
Myh2 A G 11: 67,083,398 (GRCm39) R1454G possibly damaging Het
Mylk4 C T 13: 32,913,089 (GRCm39) V70I probably benign Het
Myof A G 19: 37,968,841 (GRCm39) V358A probably benign Het
Ncor1 T A 11: 62,324,492 (GRCm39) I48F probably benign Het
Ncor1 T A 11: 62,324,494 (GRCm39) H47L probably damaging Het
Neurog2 G T 3: 127,427,742 (GRCm39) R122L probably damaging Het
Npdc1 T A 2: 25,298,129 (GRCm39) L193Q probably damaging Het
Nrxn3 A G 12: 89,227,234 (GRCm39) N290D probably damaging Het
Nynrin T C 14: 56,109,120 (GRCm39) M1409T probably benign Het
Oas1h T C 5: 121,005,107 (GRCm39) L185P probably damaging Het
Or10x4 A T 1: 174,218,848 (GRCm39) Y71F probably damaging Het
Or2z2 C T 11: 58,346,757 (GRCm39) W6* probably null Het
Or6c3 T A 10: 129,309,374 (GRCm39) V271E possibly damaging Het
Osbpl8 T A 10: 111,128,974 (GRCm39) N853K probably benign Het
Pcsk4 G T 10: 80,159,557 (GRCm39) P405Q probably benign Het
Piwil4 A C 9: 14,650,685 (GRCm39) probably null Het
Pkhd1l1 T C 15: 44,361,967 (GRCm39) Y547H probably damaging Het
Prr36 TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC 8: 4,266,273 (GRCm39) probably benign Het
Rft1 T C 14: 30,382,156 (GRCm39) L51P probably damaging Het
Rufy2 T G 10: 62,833,660 (GRCm39) L241V possibly damaging Het
Slc5a5 T C 8: 71,343,934 (GRCm39) I155V possibly damaging Het
Slc7a2 T G 8: 41,351,991 (GRCm39) M18R probably damaging Het
Snapc4 A G 2: 26,259,375 (GRCm39) S592P probably benign Het
Strn4 T C 7: 16,550,533 (GRCm39) W86R probably damaging Het
Tenm4 A G 7: 96,545,244 (GRCm39) N2457S probably damaging Het
Tent4a T A 13: 69,658,824 (GRCm39) D337V probably damaging Het
Timd4 C A 11: 46,706,309 (GRCm39) T37N possibly damaging Het
Tmem268 T A 4: 63,496,076 (GRCm39) N172K probably damaging Het
Trrap T A 5: 144,773,949 (GRCm39) V2855D probably benign Het
Tubb6 A T 18: 67,534,598 (GRCm39) T166S probably damaging Het
Tufm A G 7: 126,088,034 (GRCm39) Y179C probably benign Het
Tut7 T C 13: 59,933,597 (GRCm39) N1302D probably benign Het
Ube2r2 C T 4: 41,190,715 (GRCm39) S203L possibly damaging Het
Vldlr G T 19: 27,217,946 (GRCm39) V465L probably benign Het
Vmn2r16 C T 5: 109,488,231 (GRCm39) T368M probably benign Het
Vmn2r42 A G 7: 8,195,692 (GRCm39) F485L 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
R5982:Kmt5c UTSW 7 4,749,790 (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
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
Posted On 2021-03-08