Incidental Mutation 'R5615:Hemk1'
ID438199
Institutional Source Beutler Lab
Gene Symbol Hemk1
Ensembl Gene ENSMUSG00000032579
Gene NameHemK methyltransferase family member 1
Synonyms2310008M14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock #R5615 (G1)
Quality Score225
Status Not validated
Chromosome9
Chromosomal Location107327084-107338350 bp(-) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) T to A at 107330824 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035196] [ENSMUST00000035196] [ENSMUST00000118051]
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
0610010F05Rik A T 11: 23,606,759 L407H probably damaging Het
Abca12 A T 1: 71,307,059 L884H probably damaging Het
Ahr A G 12: 35,503,885 V745A probably benign Het
Ankrd17 A T 5: 90,283,436 S830T possibly damaging Het
Aox1 A G 1: 58,096,966 T1123A probably benign Het
Arhgef11 T C 3: 87,722,485 probably null Het
Bcas3 T A 11: 85,470,761 C250S probably damaging Het
Bckdk T C 7: 127,907,317 I272T probably damaging Het
Cacna1e T C 1: 154,412,170 K1897E probably damaging Het
Cd180 A T 13: 102,706,203 I586F probably benign Het
Cep290 A G 10: 100,531,150 D1121G probably damaging Het
Clasrp A G 7: 19,586,447 probably benign Het
Col27a1 G T 4: 63,281,114 K912N probably damaging Het
Dock4 G T 12: 40,649,480 R231L probably benign Het
Ell G A 8: 70,590,732 S505N probably benign Het
Ephb6 A G 6: 41,619,291 T833A probably benign Het
Hjurp GT GTT 1: 88,266,524 probably null Het
Hspa12a T C 19: 58,804,650 I368V possibly damaging Het
Igkv3-3 A T 6: 70,687,230 T19S probably benign Het
Itpr1 G A 6: 108,488,600 A2158T possibly damaging Het
Lancl2 T C 6: 57,722,511 Y104H probably damaging Het
Leng8 G T 7: 4,144,958 E634* probably null Het
Lrrk1 A T 7: 66,287,615 C930S probably damaging Het
Lvrn C T 18: 46,850,328 S46L possibly damaging Het
Mcidas G A 13: 112,997,425 V148I probably benign Het
Mprip A T 11: 59,758,487 T1006S probably benign Het
Mrgprb3 T A 7: 48,643,486 M106L probably benign Het
Mroh2a GCCC GC 1: 88,232,257 probably null Het
Mtor G A 4: 148,538,276 V1938I possibly damaging Het
Muc2 A G 7: 141,691,203 D46G probably damaging Het
Nfkb2 G T 19: 46,307,567 E170D probably benign Het
Olfr1113 T A 2: 87,213,739 F282L probably benign Het
Olfr811 A T 10: 129,801,767 C253S probably damaging Het
Osbp2 C T 11: 3,863,356 G171D probably benign Het
Otud6b A T 4: 14,818,187 M238K possibly damaging Het
Pcdhac2 G A 18: 37,146,423 G819R probably benign Het
Pcdhac2 G T 18: 37,146,424 G819V probably benign Het
Pcdhga12 T G 18: 37,768,079 S655A probably damaging Het
Pkd1l3 A G 8: 109,630,210 I756V probably benign Het
Plekhd1 T A 12: 80,720,590 S251T probably damaging Het
Ppp2r1a A T 17: 20,958,987 T96S probably benign Het
Qser1 A C 2: 104,789,694 S258A possibly damaging Het
Rsph4a G A 10: 33,909,328 A412T probably benign Het
Sass6 T A 3: 116,607,486 C159S probably benign Het
Scaf4 T C 16: 90,251,960 Q322R unknown Het
Sema6d C T 2: 124,656,901 H244Y probably damaging Het
Sigirr T G 7: 141,092,719 L163F probably damaging Het
Spata31d1c C A 13: 65,035,264 L207I possibly damaging Het
Tacstd2 A G 6: 67,535,049 F220L probably damaging Het
Tdpoz4 A T 3: 93,797,499 T368S probably benign Het
Tnxb C A 17: 34,683,418 Q1082K probably damaging Het
Trim41 GCCTAGGCGCCCA G 11: 48,807,365 probably benign Het
Trpm6 C T 19: 18,829,933 R1014C probably damaging Het
Ugt1a10 TTCATCA TTCA 1: 88,216,158 probably benign Het
Vmn2r114 ATTT ATT 17: 23,290,932 probably null Het
Vmn2r61 A G 7: 42,300,493 E779G probably damaging Het
Vmn2r61 T A 7: 42,267,253 M430K probably benign Het
Zfp599 T C 9: 22,253,869 D70G probably benign Het
Zmym1 A T 4: 127,049,398 I301N 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
R3406: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
R5624:Hemk1 UTSW 9 107331528 missense probably benign
R7372:Hemk1 UTSW 9 107337068 missense probably benign 0.01
R7468:Hemk1 UTSW 9 107331089 critical splice donor site probably null
R7524:Hemk1 UTSW 9 107328285 missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- AGACACCAGCACCTTGTGAG -3'
(R):5'- TCTAGTACAAACCCACTAGTGTTTG -3'

Sequencing Primer
(F):5'- ACCTTGTGAGCCCGCAG -3'
(R):5'- CAAACCCACTAGTGTTTGACTTG -3'
Posted On2016-10-26