Incidental Mutation 'R5615:Hemk1'
ID 438199
Institutional Source Beutler Lab
Gene Symbol Hemk1
Ensembl Gene ENSMUSG00000032579
Gene Name HemK methyltransferase family member 1
Synonyms 2310008M14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R5615 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 107204283-107215549 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 107208023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035196] [ENSMUST00000035196] [ENSMUST00000118051]
AlphaFold Q921L7
Predicted Effect probably null
Transcript: ENSMUST00000035196
SMART Domains Protein: ENSMUSP00000035196
Gene: ENSMUSG00000032579

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 null
Transcript: ENSMUST00000035196
SMART Domains Protein: ENSMUSP00000035196
Gene: ENSMUSG00000032579

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: 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194260
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194735
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,346,218 (GRCm39) L884H probably damaging Het
Ahr A G 12: 35,553,884 (GRCm39) V745A probably benign Het
Ankrd17 A T 5: 90,431,295 (GRCm39) S830T possibly damaging Het
Aox1 A G 1: 58,136,125 (GRCm39) T1123A probably benign Het
Arhgef11 T C 3: 87,629,792 (GRCm39) probably null Het
Bcas3 T A 11: 85,361,587 (GRCm39) C250S probably damaging Het
Bckdk T C 7: 127,506,489 (GRCm39) I272T probably damaging Het
Cacna1e T C 1: 154,287,916 (GRCm39) K1897E probably damaging Het
Cd180 A T 13: 102,842,711 (GRCm39) I586F probably benign Het
Cep290 A G 10: 100,367,012 (GRCm39) D1121G probably damaging Het
Clasrp A G 7: 19,320,372 (GRCm39) probably benign Het
Col27a1 G T 4: 63,199,351 (GRCm39) K912N probably damaging Het
Dock4 G T 12: 40,699,479 (GRCm39) R231L probably benign Het
Ell G A 8: 71,043,382 (GRCm39) S505N probably benign Het
Ephb6 A G 6: 41,596,225 (GRCm39) T833A probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hspa12a T C 19: 58,793,082 (GRCm39) I368V possibly damaging Het
Igkv3-3 A T 6: 70,664,214 (GRCm39) T19S probably benign Het
Itpr1 G A 6: 108,465,561 (GRCm39) A2158T possibly damaging Het
Lancl2 T C 6: 57,699,496 (GRCm39) Y104H probably damaging Het
Leng8 G T 7: 4,147,957 (GRCm39) E634* probably null Het
Lrrk1 A T 7: 65,937,363 (GRCm39) C930S probably damaging Het
Lvrn C T 18: 46,983,395 (GRCm39) S46L possibly damaging Het
Mcidas G A 13: 113,133,959 (GRCm39) V148I probably benign Het
Mprip A T 11: 59,649,313 (GRCm39) T1006S probably benign Het
Mrgprb3 T A 7: 48,293,234 (GRCm39) M106L probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mtor G A 4: 148,622,733 (GRCm39) V1938I possibly damaging Het
Muc2 A G 7: 141,277,446 (GRCm39) D46G probably damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or10ag52 T A 2: 87,044,083 (GRCm39) F282L probably benign Het
Or6c215 A T 10: 129,637,636 (GRCm39) C253S probably damaging Het
Osbp2 C T 11: 3,813,356 (GRCm39) G171D probably benign Het
Otud6b A T 4: 14,818,187 (GRCm39) M238K possibly damaging Het
Pcdhac2 G A 18: 37,279,476 (GRCm39) G819R probably benign Het
Pcdhac2 G T 18: 37,279,477 (GRCm39) G819V probably benign Het
Pcdhga12 T G 18: 37,901,132 (GRCm39) S655A probably damaging Het
Pkd1l3 A G 8: 110,356,842 (GRCm39) I756V probably benign Het
Plekhd1 T A 12: 80,767,364 (GRCm39) S251T probably damaging Het
Ppp2r1a A T 17: 21,179,249 (GRCm39) T96S probably benign Het
Qser1 A C 2: 104,620,039 (GRCm39) S258A possibly damaging Het
Rsph4a G A 10: 33,785,324 (GRCm39) A412T probably benign Het
Sanbr A T 11: 23,556,759 (GRCm39) L407H probably damaging Het
Sass6 T A 3: 116,401,135 (GRCm39) C159S probably benign Het
Scaf4 T C 16: 90,048,848 (GRCm39) Q322R unknown Het
Sema6d C T 2: 124,498,821 (GRCm39) H244Y probably damaging Het
Sigirr T G 7: 140,672,632 (GRCm39) L163F probably damaging Het
Spata31d1c C A 13: 65,183,078 (GRCm39) L207I possibly damaging Het
Tacstd2 A G 6: 67,512,033 (GRCm39) F220L probably damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tnxb C A 17: 34,902,392 (GRCm39) Q1082K probably damaging Het
Trim41 GCCTAGGCGCCCA G 11: 48,698,192 (GRCm39) probably benign Het
Trpm6 C T 19: 18,807,297 (GRCm39) R1014C probably damaging Het
Ugt1a10 TTCATCA TTCA 1: 88,143,880 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r61 T A 7: 41,916,677 (GRCm39) M430K probably benign Het
Vmn2r61 A G 7: 41,949,917 (GRCm39) E779G probably damaging Het
Zfp599 T C 9: 22,165,165 (GRCm39) D70G probably benign Het
Zmym1 A T 4: 126,943,191 (GRCm39) I301N probably damaging Het
Other mutations in Hemk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Hemk1 APN 9 107,207,995 (GRCm39) missense possibly damaging 0.89
IGL02164:Hemk1 APN 9 107,208,735 (GRCm39) missense probably benign
IGL02811:Hemk1 APN 9 107,208,750 (GRCm39) missense probably benign 0.01
R3404:Hemk1 UTSW 9 107,214,415 (GRCm39) nonsense probably null
R3406:Hemk1 UTSW 9 107,214,415 (GRCm39) nonsense probably null
R3806:Hemk1 UTSW 9 107,214,229 (GRCm39) missense probably damaging 0.99
R4277:Hemk1 UTSW 9 107,205,728 (GRCm39) missense possibly damaging 0.95
R4820:Hemk1 UTSW 9 107,205,385 (GRCm39) missense probably benign 0.18
R4857:Hemk1 UTSW 9 107,206,647 (GRCm39) intron probably benign
R5172:Hemk1 UTSW 9 107,206,631 (GRCm39) missense possibly damaging 0.84
R5624:Hemk1 UTSW 9 107,208,727 (GRCm39) missense probably benign
R7372:Hemk1 UTSW 9 107,214,267 (GRCm39) missense probably benign 0.01
R7468:Hemk1 UTSW 9 107,208,288 (GRCm39) critical splice donor site probably null
R7524:Hemk1 UTSW 9 107,205,484 (GRCm39) missense probably benign 0.27
R8851:Hemk1 UTSW 9 107,213,412 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGACACCAGCACCTTGTGAG -3'
(R):5'- TCTAGTACAAACCCACTAGTGTTTG -3'

Sequencing Primer
(F):5'- ACCTTGTGAGCCCGCAG -3'
(R):5'- CAAACCCACTAGTGTTTGACTTG -3'
Posted On 2016-10-26