Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01775:Hemk1'

154095

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 #

IGL01775

Quality Score

Status

Chromosome

Chromosomal Location

107204283-107215549 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107207995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 215 (I215T)

Ref Sequence

ENSEMBL: ENSMUSP00000035196 (fasta)

Gene Model

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

AlphaFold

Q921L7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035196
AA Change: I215T

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035196
Gene: ENSMUSG00000032579
AA Change: I215T

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	A	T	11: 84,361,963 (GRCm39)	L333Q	probably damaging	Het
Ablim3	A	T	18: 61,949,989 (GRCm39)		probably benign	Het
Acsl6	T	C	11: 54,236,826 (GRCm39)		probably benign	Het
Adra1b	T	A	11: 43,726,128 (GRCm39)	D263V	probably damaging	Het
Aicda	G	A	6: 122,538,012 (GRCm39)	V57M	probably damaging	Het
C2cd3	T	C	7: 100,092,638 (GRCm39)	W494R	probably damaging	Het
Ccnb1	T	C	13: 100,920,017 (GRCm39)	S165G	probably benign	Het
Cnot4	A	T	6: 35,046,411 (GRCm39)		probably benign	Het
Dph6	A	T	2: 114,348,776 (GRCm39)		probably benign	Het
Emc3	A	G	6: 113,508,296 (GRCm39)	S50P	possibly damaging	Het
Fbxo45	A	C	16: 32,052,093 (GRCm39)		probably null	Het
Gm14496	A	T	2: 181,642,125 (GRCm39)	T599S	probably benign	Het
Gspt1	T	C	16: 11,041,159 (GRCm39)	I535V	possibly damaging	Het
Ighm	A	T	12: 113,386,087 (GRCm39)	C88S	unknown	Het
Itih2	A	C	2: 10,134,097 (GRCm39)	D38E	probably benign	Het
Lat	C	A	7: 125,967,261 (GRCm39)	V113L	probably benign	Het
Mical2	T	A	7: 111,981,269 (GRCm39)	F480L	possibly damaging	Het
Mki67	A	T	7: 135,300,005 (GRCm39)	S1676R	possibly damaging	Het
Msh2	A	T	17: 87,990,074 (GRCm39)	N254I	possibly damaging	Het
Naglu	T	C	11: 100,964,921 (GRCm39)	M336T	probably damaging	Het
Nhsl1	C	T	10: 18,400,222 (GRCm39)	R483C	probably damaging	Het
Nsmaf	C	T	4: 6,396,791 (GRCm39)	E899K	possibly damaging	Het
Nup85	T	C	11: 115,471,593 (GRCm39)	Y181H	probably damaging	Het
Or52n2	A	T	7: 104,542,499 (GRCm39)	M112K	possibly damaging	Het
Or5m5	T	C	2: 85,815,014 (GRCm39)	S277P	probably damaging	Het
Or7g35	A	T	9: 19,496,001 (GRCm39)	Q56L	probably benign	Het
Or8g23	C	A	9: 38,971,763 (GRCm39)	L66F	probably damaging	Het
P2rx3	C	T	2: 84,854,501 (GRCm39)	R91H	probably benign	Het
Plag1	T	C	4: 3,904,513 (GRCm39)	D226G	probably damaging	Het
Pofut1	T	A	2: 153,090,393 (GRCm39)	F96I	probably damaging	Het
Prim1	A	G	10: 127,865,112 (GRCm39)	N399S	probably benign	Het
Prkd3	G	T	17: 79,320,189 (GRCm39)	T51K	probably damaging	Het
Ptprc	T	C	1: 137,992,497 (GRCm39)	Y1210C	probably damaging	Het
Rbm43	A	T	2: 51,815,460 (GRCm39)	S254T	probably damaging	Het
Retsat	G	A	6: 72,584,300 (GRCm39)	R528Q	probably damaging	Het
Rlig1	A	T	10: 100,419,799 (GRCm39)	L94Q	probably benign	Het
Rps8	C	A	4: 117,012,249 (GRCm39)	R56L	probably benign	Het
Samhd1	A	T	2: 156,956,250 (GRCm39)		probably benign	Het
Sfxn1	T	C	13: 54,259,758 (GRCm39)		probably benign	Het
Stk33	T	A	7: 108,911,574 (GRCm39)	E396D	possibly damaging	Het
Tcaim	T	C	9: 122,647,890 (GRCm39)	V135A	probably damaging	Het
Thsd7b	A	G	1: 129,556,676 (GRCm39)	D421G	probably damaging	Het
Unc80	A	G	1: 66,640,215 (GRCm39)	D1374G	possibly damaging	Het
Wnk2	C	A	13: 49,224,586 (GRCm39)	D232Y	probably damaging	Het
Zfand1	T	C	3: 10,409,926 (GRCm39)	T145A	probably damaging	Het

Other mutations in Hemk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2014-02-04