Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02811:Hemk1'

360580

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02811

Quality Score

Status

Chromosome

Chromosomal Location

107204283-107215549 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107208750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 149 (V149E)

Ref Sequence

ENSEMBL: ENSMUSP00000035196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035196] [ENSMUST00000118051]

AlphaFold

Q921L7

Predicted Effect

probably benign
Transcript: ENSMUST00000035196
AA Change: V149E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000035196
Gene: ENSMUSG00000032579
AA Change: V149E

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	C	T	13: 4,562,682 (GRCm39)	R90H	possibly damaging	Het
BC048679	A	T	7: 81,144,937 (GRCm39)		probably benign	Het
Chd6	T	C	2: 160,832,221 (GRCm39)	R984G	probably damaging	Het
Cobl	A	G	11: 12,203,285 (GRCm39)	I1139T	possibly damaging	Het
Coq3	A	G	4: 21,900,273 (GRCm39)	R167G	probably damaging	Het
Crim1	A	G	17: 78,658,130 (GRCm39)	K670E	possibly damaging	Het
Crtac1	T	C	19: 42,322,350 (GRCm39)	E130G	probably damaging	Het
Dcbld1	A	G	10: 52,196,069 (GRCm39)	T426A	probably benign	Het
Dimt1	T	C	13: 107,084,175 (GRCm39)		probably benign	Het
Dnal1	G	A	12: 84,178,166 (GRCm39)		probably null	Het
Fes	T	C	7: 80,029,589 (GRCm39)	Y631C	probably damaging	Het
Itga6	T	C	2: 71,657,076 (GRCm39)	V397A	probably damaging	Het
Kmt2c	A	T	5: 25,520,026 (GRCm39)	L2028*	probably null	Het
Krt33b	C	A	11: 99,920,395 (GRCm39)	C86F	probably benign	Het
Lmx1a	A	G	1: 167,618,943 (GRCm39)	I101V	probably benign	Het
Mlh1	A	G	9: 111,100,582 (GRCm39)	V4A	probably benign	Het
Mroh2b	A	G	15: 4,944,718 (GRCm39)	I440V	possibly damaging	Het
Mrpl35	A	G	6: 71,795,804 (GRCm39)	Y28H	probably benign	Het
Oas3	C	A	5: 120,902,387 (GRCm39)	E636D	unknown	Het
Olfm4	T	A	14: 80,259,113 (GRCm39)	S454T	probably damaging	Het
Or4l15	T	A	14: 50,197,590 (GRCm39)		probably benign	Het
Or52ab2	T	C	7: 102,970,140 (GRCm39)	I174T	probably benign	Het
Otoa	G	T	7: 120,717,878 (GRCm39)	G365V	possibly damaging	Het
Pdgfrl	G	T	8: 41,430,005 (GRCm39)	R124L	probably damaging	Het
Rcbtb2	T	A	14: 73,411,851 (GRCm39)	V380E	probably damaging	Het
Rufy2	A	G	10: 62,836,106 (GRCm39)	D345G	probably damaging	Het
Shq1	A	T	6: 100,607,945 (GRCm39)	I322N	probably damaging	Het
Skint4	C	A	4: 111,944,200 (GRCm39)	T4K	possibly damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tbc1d5	A	G	17: 51,107,149 (GRCm39)	I469T	probably damaging	Het
Thoc3	T	C	13: 54,607,988 (GRCm39)	R319G	probably benign	Het
Tmem63a	A	G	1: 180,793,348 (GRCm39)	I507M	probably damaging	Het
Usp40	A	T	1: 87,923,458 (GRCm39)	I271N	probably damaging	Het
Vps13d	T	C	4: 144,858,335 (GRCm39)	D2157G	possibly damaging	Het
Vwa8	T	A	14: 79,231,899 (GRCm39)	V586D	probably benign	Het

Other mutations in Hemk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R5615:Hemk1	UTSW	9	107,208,023 (GRCm39)	critical splice acceptor site	probably null
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

Posted On

2015-12-18