Incidental Mutation 'R3406:Hemk1'
ID259388
Institutional Source Beutler Lab
Gene Symbol Hemk1
Ensembl Gene ENSMUSG00000032579
Gene NameHemK methyltransferase family member 1
Synonyms2310008M14Rik
MMRRC Submission 040624-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.130) question?
Stock #R3406 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location107327084-107338350 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 107337216 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 6 (Q6*)
Ref Sequence ENSEMBL: ENSMUSP00000035196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035196] [ENSMUST00000042581] [ENSMUST00000118051]
Predicted Effect probably null
Transcript: ENSMUST00000035196
AA Change: Q6*
SMART Domains Protein: ENSMUSP00000035196
Gene: ENSMUSG00000032579
AA Change: Q6*

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Cons_hypoth95 114 267 9.9e-9 PFAM
Pfam:PrmA 137 265 4e-9 PFAM
Pfam:MTS 146 259 4.1e-13 PFAM
Pfam:Methyltransf_31 158 305 2.3e-14 PFAM
Pfam:Methyltransf_4 160 231 5.2e-7 PFAM
Pfam:Methyltransf_18 160 298 1.7e-11 PFAM
Pfam:Methyltransf_26 161 299 1.1e-10 PFAM
Pfam:Methyltransf_25 164 262 2.7e-9 PFAM
Pfam:Methyltransf_11 165 259 2.9e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042581
SMART Domains Protein: ENSMUSP00000047093
Gene: ENSMUSG00000037977

DomainStartEndE-ValueType
low complexity region 24 45 N/A INTRINSIC
transmembrane domain 62 84 N/A INTRINSIC
low complexity region 107 118 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118051
SMART Domains Protein: ENSMUSP00000112882
Gene: ENSMUSG00000032579

DomainStartEndE-ValueType
SCOP:d1g60a_ 9 82 9e-7 SMART
Blast:MeTrc 14 82 2e-6 BLAST
PDB:4DZR|A 15 118 2e-8 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148165
Meta Mutation Damage Score 0.6244 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.4%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,904,903 M1K probably null Het
Bdkrb2 T C 12: 105,592,496 V332A possibly damaging Het
Cdc27 T C 11: 104,507,200 E778G probably damaging Het
Chd4 C A 6: 125,122,007 T1586K probably benign Het
Cnga3 A G 1: 37,262,065 E622G probably benign Het
Dbh A G 2: 27,174,965 D396G possibly damaging Het
Dhodh G A 8: 109,603,475 R86* probably null Het
Dpt A C 1: 164,796,931 E67A probably damaging Het
Eif2ak2 A G 17: 78,858,639 probably benign Het
Esp4 T A 17: 40,602,445 L68M possibly damaging Het
Exo1 A G 1: 175,905,970 K787E possibly damaging Het
Fbxo38 T C 18: 62,514,843 T875A probably damaging Het
Gm5346 A T 8: 43,626,052 C378* probably null Het
Gsdma T C 11: 98,673,138 probably benign Het
Hmcn2 C T 2: 31,433,272 probably benign Het
Hook2 A G 8: 84,993,984 probably benign Het
Irx3 A G 8: 91,798,927 S507P unknown Het
Kazn C A 4: 142,239,195 probably benign Het
Kcne4 C T 1: 78,817,971 A112V possibly damaging Het
Lamb1 C T 12: 31,287,529 R372C probably damaging Het
Lrrc30 A G 17: 67,632,180 L135P probably damaging Het
Lyst T A 13: 13,635,230 M495K possibly damaging Het
Mab21l3 C A 3: 101,823,531 V131F probably damaging Het
Mki67 T A 7: 135,707,475 T416S probably benign Het
Mlst8 A T 17: 24,478,125 M56K probably benign Het
Mmp9 A G 2: 164,949,390 Y160C probably damaging Het
Mslnl A G 17: 25,746,181 Y507C probably damaging Het
Muc6 G A 7: 141,638,400 S2120F possibly damaging Het
Myl12a A T 17: 70,994,742 M130K probably benign Het
Ncdn C T 4: 126,748,595 R423Q probably benign Het
Ncf2 A G 1: 152,825,947 probably benign Het
Nek8 G T 11: 78,170,746 S319* probably null Het
Olfr553 T C 7: 102,614,786 M68V possibly damaging Het
Olfr740 G A 14: 50,453,196 C48Y probably benign Het
Pcdh17 T A 14: 84,446,622 D176E probably damaging Het
Pcdhb15 C A 18: 37,475,389 A558E probably benign Het
Plrg1 T A 3: 83,071,219 W431R probably damaging Het
Rbfox3 T A 11: 118,496,457 Q277L possibly damaging Het
Rpgrip1 G A 14: 52,145,209 D600N possibly damaging Het
Siah3 A G 14: 75,525,981 D224G probably damaging Het
Slc22a6 T C 19: 8,621,311 L244P probably damaging Het
Stap2 A T 17: 55,997,511 W374R probably benign Het
Tbck T A 3: 132,727,084 N418K probably benign Het
Tcp11x2 T C X: 135,654,984 N474S probably damaging Het
Tenm3 A C 8: 48,228,555 V2680G probably damaging Het
Thada A T 17: 84,230,785 probably benign Het
Tlr6 C T 5: 64,953,429 V712M probably damaging Het
Tmem28 A G X: 99,845,503 I325V probably benign Het
Uvssa G T 5: 33,389,818 G243C probably damaging Het
Vwa8 T A 14: 79,164,220 probably benign Het
Znrf2 A T 6: 54,884,791 N229I probably damaging Het
Other mutations in Hemk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Hemk1 APN 9 107330796 missense possibly damaging 0.89
IGL02164:Hemk1 APN 9 107331536 missense probably benign
IGL02811:Hemk1 APN 9 107331551 missense probably benign 0.01
R3404:Hemk1 UTSW 9 107337216 nonsense probably null
R3806:Hemk1 UTSW 9 107337030 missense probably damaging 0.99
R4277:Hemk1 UTSW 9 107328529 missense possibly damaging 0.95
R4820:Hemk1 UTSW 9 107328186 missense probably benign 0.18
R4857:Hemk1 UTSW 9 107329448 intron probably benign
R5172:Hemk1 UTSW 9 107329432 missense possibly damaging 0.84
R5615:Hemk1 UTSW 9 107330824 critical splice acceptor site probably null
R5624:Hemk1 UTSW 9 107331528 missense probably benign
Predicted Primers PCR Primer
(F):5'- ATGTACTCACTGGATTCCCGGG -3'
(R):5'- AAAGCACACCCTTTCCTGGC -3'

Sequencing Primer
(F):5'- TGGATTCCCGGGCCTCTG -3'
(R):5'- ACCCTTTCCTGGCACATTTTGAG -3'
Posted On2015-01-23