Incidental Mutation 'R1599:Kmt5c'
ID176025
Institutional Source Beutler Lab
Gene Symbol Kmt5c
Ensembl Gene ENSMUSG00000059851
Gene Namelysine methyltransferase 5C
SynonymsSuv4-20h2, Suv420h2
MMRRC Submission 039636-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1599 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location4740115-4747514 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 4741900 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 10 (E10G)
Ref Sequence ENSEMBL: ENSMUSP00000119323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098853] [ENSMUST00000108582] [ENSMUST00000108583] [ENSMUST00000128018] [ENSMUST00000130215] [ENSMUST00000160480]
Predicted Effect probably damaging
Transcript: ENSMUST00000098853
AA Change: E10G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096452
Gene: ENSMUSG00000059851
AA Change: E10G

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: E10G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104223
Gene: ENSMUSG00000059851
AA Change: E10G

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: E10G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104224
Gene: ENSMUSG00000059851
AA Change: E10G

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 probably damaging
Transcript: ENSMUST00000130215
AA Change: E10G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119323
Gene: ENSMUSG00000059851
AA Change: E10G

DomainStartEndE-ValueType
PDB:4AU7|B 1 164 1e-110 PDB
Blast:SET 32 133 5e-35 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135541
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157950
Predicted Effect possibly damaging
Transcript: ENSMUST00000160480
AA Change: E10G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124663
Gene: ENSMUSG00000059851
AA Change: E10G

DomainStartEndE-ValueType
PDB:4AU7|B 1 36 2e-18 PDB
Blast:SET 6 36 3e-10 BLAST
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.9%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,150,259 E202G probably damaging Het
9230110F15Rik T C 9: 35,839,037 N113S probably benign Het
Adam23 A G 1: 63,570,933 D698G possibly damaging Het
Adam3 T C 8: 24,725,361 D20G possibly damaging Het
Adamts12 T C 15: 11,071,711 S114P probably damaging Het
Adgrg6 T A 10: 14,467,313 R297* probably null Het
Ahdc1 A T 4: 133,064,936 S1163C possibly damaging Het
AI481877 A T 4: 59,072,349 N622K possibly damaging Het
Axl A G 7: 25,763,969 Y619H probably damaging Het
Bcl11a G T 11: 24,163,887 C410F probably damaging Het
Brca2 C A 5: 150,548,713 S2359* probably null Het
Calca A G 7: 114,634,472 S75P probably damaging Het
Ccpg1 T A 9: 72,999,125 Y54* probably null Het
Cfap161 A T 7: 83,776,079 M268K possibly damaging Het
Cfap61 T A 2: 146,012,163 V365E probably benign Het
Cgnl1 T C 9: 71,641,427 I1000V probably benign Het
Chd2 A T 7: 73,473,051 D978E probably benign Het
Ctgf A T 10: 24,597,399 R279W probably benign Het
Cyth1 G A 11: 118,177,221 T297M probably damaging Het
Dennd1b T G 1: 139,167,730 D505E probably benign Het
Dgkd A G 1: 87,881,886 T99A possibly damaging Het
Fam161a A T 11: 23,021,093 M180L probably benign Het
Gar1 G T 3: 129,830,604 R80S probably benign Het
Gm28042 T C 2: 120,036,463 S419P probably benign Het
Gm5591 A C 7: 38,520,370 C360G probably benign Het
Golga2 A G 2: 32,303,173 H427R probably benign Het
Gpt2 A G 8: 85,512,234 Y232C probably damaging Het
Hnrnpll T A 17: 80,053,625 H118L unknown Het
Ice2 T A 9: 69,411,442 C303S probably null Het
Ikzf3 C A 11: 98,467,093 G473C probably damaging Het
Kansl3 A T 1: 36,367,870 D38E probably damaging Het
Kcna6 A T 6: 126,739,319 D202E probably benign Het
Klhl21 G A 4: 152,012,300 G341D probably damaging Het
Klhl29 A T 12: 5,093,538 V497D probably damaging Het
Kmt2b G A 7: 30,570,575 L2449F probably damaging Het
Lama3 C T 18: 12,450,400 Q682* probably null Het
Lamb3 T C 1: 193,320,493 V82A probably damaging Het
Larp4b C T 13: 9,122,150 T2I probably damaging Het
Man2a1 T C 17: 64,679,831 Y613H possibly damaging Het
Mcm3 G A 1: 20,820,198 T4I probably benign Het
Mki67 C T 7: 135,699,934 A1124T probably benign Het
Mlh3 A T 12: 85,268,369 L348I probably damaging Het
Mmrn1 G A 6: 60,945,037 M159I probably benign Het
Muc5ac A T 7: 141,798,903 Q709L possibly damaging Het
Naip2 C T 13: 100,161,981 A516T possibly damaging Het
Nosip A G 7: 45,074,006 N32S probably benign Het
Npat T C 9: 53,562,404 Y499H possibly damaging Het
Nt5c1b T A 12: 10,390,024 I522N probably damaging Het
Olfr347 G T 2: 36,734,989 V223F probably benign Het
Olfr457 T A 6: 42,471,242 K312M probably damaging Het
Olfr653 A G 7: 104,579,648 M1V probably null Het
Olfr850 T A 9: 19,478,221 T7S probably damaging Het
Pappa2 A G 1: 158,857,172 F799S probably damaging Het
Pcdha1 C T 18: 37,185,237 T941M probably damaging Het
Pilrb2 A T 5: 137,868,597 F215I possibly damaging Het
Pkd1l3 G T 8: 109,636,384 M1092I probably benign Het
Ppp1r21 G T 17: 88,572,627 V491L probably benign Het
Prickle2 T C 6: 92,410,874 T516A probably benign Het
Prr27 G T 5: 87,843,225 R232L probably benign Het
Rab3gap2 C T 1: 185,251,026 T454I probably benign Het
Rgs11 C A 17: 26,208,249 H385N probably damaging Het
S1pr5 T A 9: 21,243,934 T399S probably benign Het
Sacs G A 14: 61,203,638 M1044I probably benign Het
Sec31b T A 19: 44,523,153 Q603L possibly damaging Het
Setx G A 2: 29,140,373 E275K probably benign Het
Sh3tc1 G A 5: 35,707,512 P444S probably benign Het
Strn3 T A 12: 51,652,766 N208Y possibly damaging Het
Tmem87a T C 2: 120,394,387 N131S probably damaging Het
Tmprss13 T A 9: 45,338,318 W318R probably damaging Het
Trabd2b T C 4: 114,408,981 V64A probably damaging Het
Trafd1 A T 5: 121,379,657 N24K probably damaging Het
Ttc41 T C 10: 86,776,573 S1237P probably benign Het
Ttll1 A G 15: 83,497,354 V238A probably benign Het
Vps50 T C 6: 3,565,537 S492P probably benign Het
Zic1 T C 9: 91,361,688 I409V probably benign Het
Other mutations in Kmt5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Kmt5c APN 7 4742141 nonsense probably null
R0010:Kmt5c UTSW 7 4746208 missense probably benign 0.09
R0349:Kmt5c UTSW 7 4746595 missense probably damaging 0.98
R0400:Kmt5c UTSW 7 4746244 missense probably benign 0.02
R1402:Kmt5c UTSW 7 4742253 missense possibly damaging 0.62
R1402:Kmt5c UTSW 7 4742253 missense possibly damaging 0.62
R1657:Kmt5c UTSW 7 4746454 nonsense probably null
R1799:Kmt5c UTSW 7 4742730 critical splice donor site probably null
R1892:Kmt5c UTSW 7 4742715 nonsense probably null
R3855:Kmt5c UTSW 7 4746256 missense probably damaging 1.00
R5982:Kmt5c UTSW 7 4746791 missense probably damaging 1.00
R6306:Kmt5c UTSW 7 4746481 missense probably benign 0.35
R6357:Kmt5c UTSW 7 4742205 missense possibly damaging 0.94
R6563:Kmt5c UTSW 7 4742629 missense probably damaging 1.00
R7106:Kmt5c UTSW 7 4742706 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGCTGACATTCGAGAAAGTGTCC -3'
(R):5'- CCGTTGCCTTAGGAAAGCTTCCAG -3'

Sequencing Primer
(F):5'- TCGAGAAAGTGTCCATGTCC -3'
(R):5'- TTCCAGGGACTTCCAGGC -3'
Posted On2014-04-24