Mutagenetix > Incidental Mutations

Incidental Mutation 'R5615:Hemk1'

438199

Institutional Source

Beutler Lab

Gene Symbol

Hemk1

Ensembl Gene

ENSMUSG00000032579

Gene Name

HemK methyltransferase family member 1

Synonyms

2310008M14Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R5615 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107327084-107338350 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 107330824 bp (GRCm38)

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

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 null
Transcript: ENSMUST00000035196

SMART Domains

Protein: ENSMUSP00000035196
Gene: ENSMUSG00000032579

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8851:Hemk1	UTSW	9	107336213	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