Incidental Mutation 'R1657:Kmt5c'
ID186459
Institutional Source Beutler Lab
Gene Symbol Kmt5c
Ensembl Gene ENSMUSG00000059851
Gene Namelysine methyltransferase 5C
SynonymsSuv4-20h2, Suv420h2
MMRRC Submission 039693-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1657 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location4740115-4747514 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 4746454 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 324 (Q324*)
Ref Sequence ENSEMBL: ENSMUSP00000104224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098853] [ENSMUST00000108582] [ENSMUST00000108583] [ENSMUST00000128018] [ENSMUST00000130215] [ENSMUST00000160480]
Predicted Effect probably null
Transcript: ENSMUST00000098853
AA Change: Q324*
SMART Domains Protein: ENSMUSP00000096452
Gene: ENSMUSG00000059851
AA Change: Q324*

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 null
Transcript: ENSMUST00000108582
AA Change: Q324*
SMART Domains Protein: ENSMUSP00000104223
Gene: ENSMUSG00000059851
AA Change: Q324*

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 null
Transcript: ENSMUST00000108583
AA Change: Q324*
SMART Domains Protein: ENSMUSP00000104224
Gene: ENSMUSG00000059851
AA Change: Q324*

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 silent
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 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
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 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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009B22Rik T C 11: 51,685,678 Q131R probably benign Het
3632451O06Rik G C 14: 49,773,560 T230S probably damaging Het
Acaca T G 11: 84,264,084 D988E probably benign Het
Als2 A G 1: 59,180,601 V1185A probably damaging Het
Amdhd2 A G 17: 24,156,055 V391A probably damaging Het
Caprin1 A T 2: 103,769,506 V608E probably damaging Het
Celsr3 T A 9: 108,842,952 C2512* probably null Het
Cfl1 A T 19: 5,493,555 R187W probably damaging Het
Cgnl1 C T 9: 71,725,944 V42I probably damaging Het
Chd2 A G 7: 73,480,430 Y826H probably damaging Het
Col9a2 C A 4: 121,040,974 P28T unknown Het
Cyp3a44 G A 5: 145,779,743 P346S probably damaging Het
Dact2 A G 17: 14,197,990 V151A probably benign Het
Dhx29 T C 13: 112,952,843 I716T probably damaging Het
Esam T C 9: 37,537,621 S342P probably damaging Het
Fam189a2 C A 19: 23,975,635 C437F probably damaging Het
Fer1l4 A G 2: 156,035,598 V1053A possibly damaging Het
Grk3 A G 5: 112,966,982 F124S probably damaging Het
H2-DMa G A 17: 34,137,399 probably null Het
Hsd3b5 T A 3: 98,619,720 I137F possibly damaging Het
Itgav A T 2: 83,801,779 I902F probably benign Het
Itsn1 G T 16: 91,909,223 C179F probably damaging Het
Kcnh8 G A 17: 52,839,125 R347H probably damaging Het
Kif9 T C 9: 110,489,966 M166T possibly damaging Het
Lcn9 G A 2: 25,824,710 E154K probably benign Het
Mfge8 A T 7: 79,141,773 L227Q probably benign Het
Mroh2b A T 15: 4,931,043 R753* probably null Het
Mtif2 G A 11: 29,540,721 R475Q probably benign Het
Nln C T 13: 104,036,947 V584I possibly damaging Het
Nr2e3 T C 9: 59,948,767 E129G probably benign Het
Ocstamp T C 2: 165,397,516 D250G probably damaging Het
Olfr1065 A C 2: 86,445,218 L255V probably damaging Het
Olfr403 A T 11: 74,195,896 H131L probably damaging Het
Olfr503 T C 7: 108,545,377 I284T possibly damaging Het
Pld1 A T 3: 28,071,187 I417L probably benign Het
Polr1a A T 6: 71,941,535 K692N probably damaging Het
Qsox2 A T 2: 26,220,747 Y152* probably null Het
Rpap1 T C 2: 119,783,778 D46G possibly damaging Het
Rpe65 A G 3: 159,614,448 T246A probably damaging Het
Scn5a T C 9: 119,562,380 D82G probably damaging Het
Sema3d A G 5: 12,584,974 E669G possibly damaging Het
Serpinb6c T C 13: 33,880,226 N282S probably benign Het
Snap47 A T 11: 59,428,770 S181T probably benign Het
Snx9 A C 17: 5,918,436 T336P possibly damaging Het
Sphkap G A 1: 83,277,515 R838* probably null Het
Terb1 A T 8: 104,488,491 D284E possibly damaging Het
Tmem266 C T 9: 55,418,008 A153V probably damaging Het
Ttn T C 2: 76,742,804 E25915G possibly damaging Het
Tubal3 A G 13: 3,933,011 T264A possibly damaging Het
Vldlr G A 19: 27,245,670 R747Q probably benign Het
Zc3h8 G T 2: 128,929,957 probably benign Het
Zfp184 C T 13: 21,959,273 T383M probably damaging Het
Zfp455 T C 13: 67,198,639 F38S possibly damaging Het
Zfp746 A G 6: 48,082,174 V167A possibly damaging Het
Zfp985 T A 4: 147,584,110 N478K 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
R1599:Kmt5c UTSW 7 4741900 missense probably damaging 1.00
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'- TTCTGACCTGTCCAGAGGAAGAGC -3'
(R):5'- GATAGACTCTGCACTCCATTCCGC -3'

Sequencing Primer
(F):5'- AGCTGCACAGGTCCTGTTG -3'
(R):5'- TAGGCGGGTAAGTTCCACAC -3'
Posted On2014-05-09