Mutagenetix > Incidental Mutation

Incidental Mutation 'R7970:Mkrn2'

650554

Institutional Source

Beutler Lab

Gene Symbol

Mkrn2

Ensembl Gene

ENSMUSG00000000439

Gene Name

makorin, ring finger protein, 2

Synonyms

2610002L04Rik

MMRRC Submission

046013-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7970 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115578844-115598647 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115594269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 327 (C327S)

Ref Sequence

ENSEMBL: ENSMUSP00000000449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000449] [ENSMUST00000000451] [ENSMUST00000112949] [ENSMUST00000203759]

AlphaFold

Q9ERV1

Predicted Effect

probably damaging
Transcript: ENSMUST00000000449
AA Change: C327S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000449
Gene: ENSMUSG00000000439
AA Change: C327S

Domain	Start	End	E-Value	Type
ZnF_C3H1	2	28	5.02e-6	SMART
ZnF_C3H1	32	57	1.75e-5	SMART
low complexity region	58	85	N/A	INTRINSIC
ZnF_C3H1	165	191	2.79e-4	SMART
RING	238	291	5.82e-6	SMART
ZnF_C3H1	322	349	5.5e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000000451

SMART Domains

Protein: ENSMUSP00000000451
Gene: ENSMUSG00000000441

Domain	Start	End	E-Value	Type
RBD	56	131	6.95e-35	SMART
C1	139	184	1.2e-13	SMART
low complexity region	283	301	N/A	INTRINSIC
Pfam:Pkinase	349	606	7.2e-61	PFAM
Pfam:Pkinase_Tyr	349	606	3.5e-65	PFAM
Pfam:Kinase-like	400	596	3.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112949

SMART Domains

Protein: ENSMUSP00000108571
Gene: ENSMUSG00000000441

Domain	Start	End	E-Value	Type
RBD	56	131	6.95e-35	SMART
C1	139	184	1.2e-13	SMART
low complexity region	283	301	N/A	INTRINSIC
Pfam:Pkinase_Tyr	349	606	3.4e-64	PFAM
Pfam:Pkinase	349	608	1.1e-61	PFAM
Pfam:Kinase-like	399	596	2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203142

Predicted Effect

probably benign
Transcript: ENSMUST00000203759

SMART Domains

Protein: ENSMUSP00000145520
Gene: ENSMUSG00000000441

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	58	1e-6	PFAM
Pfam:Pkinase	1	60	1e-7	PFAM

Meta Mutation Damage Score

0.9189

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a probable E3 ubiquitin ligase containing several zinc finger domains, that is a member of the makorin RING zinc-finger protein family. This gene overlaps the v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) gene in an antisense orientation and may have a co-regulatory function with RAF1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	A	G	4: 49,449,266 (GRCm39)	F167L	probably damaging	Het
Acsbg2	A	G	17: 57,156,728 (GRCm39)	Y437H	probably benign	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Anapc2	T	C	2: 25,163,299 (GRCm39)	S179P	possibly damaging	Het
Aopep	A	G	13: 63,180,974 (GRCm39)	N312S	probably benign	Het
Arhgef1	G	A	7: 24,616,306 (GRCm39)	D317N	probably damaging	Het
Arrdc4	G	A	7: 68,390,820 (GRCm39)	P307S	probably damaging	Het
B3gnt2	T	C	11: 22,786,255 (GRCm39)	Y311C	probably damaging	Het
Brf1	T	C	12: 112,927,820 (GRCm39)	D453G	probably damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dst	G	T	1: 34,221,828 (GRCm39)	C2544F	possibly damaging	Het
Efhc1	C	T	1: 21,022,019 (GRCm39)	T21M	probably benign	Het
Efs	A	G	14: 55,157,960 (GRCm39)		probably null	Het
Elp1	A	T	4: 56,771,466 (GRCm39)	Y944N	probably damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Fam171a2	A	T	11: 102,328,692 (GRCm39)	V689E	possibly damaging	Het
Fam184a	T	C	10: 53,575,421 (GRCm39)	T63A	probably damaging	Het
Fam186a	T	C	15: 99,831,467 (GRCm39)	D2897G	unknown	Het
Fbxw11	T	G	11: 32,672,101 (GRCm39)	S224A	probably benign	Het
Flnc	G	T	6: 29,447,525 (GRCm39)	E1109D	possibly damaging	Het
Foxn4	A	G	5: 114,401,068 (GRCm39)		probably null	Het
Gm19410	A	G	8: 36,282,801 (GRCm39)	E2009G	probably benign	Het
Gm9958	A	G	5: 90,515,568 (GRCm39)		probably benign	Het
Gprin3	C	T	6: 59,330,150 (GRCm39)	R719Q	possibly damaging	Het
Grip2	A	T	6: 91,763,513 (GRCm39)	I147N	probably benign	Het
H2-DMb2	A	G	17: 34,369,572 (GRCm39)	R239G	probably benign	Het
Hydin	A	C	8: 111,035,723 (GRCm39)	D138A	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lgr6	A	G	1: 134,921,723 (GRCm39)	I484T	probably benign	Het
Mnt	C	T	11: 74,733,036 (GRCm39)	A288V	probably damaging	Het
Nckap5	T	A	1: 125,952,758 (GRCm39)	K1265*	probably null	Het
Ncoa3	A	T	2: 165,893,277 (GRCm39)	H194L	probably benign	Het
Ogn	A	T	13: 49,762,742 (GRCm39)	H28L	probably benign	Het
Or56a41	C	A	7: 104,740,556 (GRCm39)	V97L	probably benign	Het
Or5b101	T	A	19: 13,005,058 (GRCm39)	I212F	probably damaging	Het
Or9m1b	A	T	2: 87,836,169 (GRCm39)	F309I	probably benign	Het
Pclo	T	C	5: 14,764,492 (GRCm39)	S1037P		Het
Phlpp1	T	A	1: 106,101,015 (GRCm39)	Y428N	probably damaging	Het
Ptpre	A	G	7: 135,280,048 (GRCm39)	T591A	possibly damaging	Het
Rtn1	A	T	12: 72,355,648 (GRCm39)	D99E	probably benign	Het
Scn7a	A	T	2: 66,506,173 (GRCm39)	I1572N	probably damaging	Het
Sema3a	T	A	5: 13,649,375 (GRCm39)	M708K	possibly damaging	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
Slc9a2	T	C	1: 40,765,374 (GRCm39)	Y255H	probably damaging	Het
Spock3	T	C	8: 63,798,749 (GRCm39)	F254L	probably damaging	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
St6galnac2	T	C	11: 116,581,169 (GRCm39)	D51G	probably benign	Het
Stard13	T	A	5: 150,986,726 (GRCm39)	K261N	possibly damaging	Het
Tlk1	T	C	2: 70,582,644 (GRCm39)	R162G	possibly damaging	Het
Tlr2	T	C	3: 83,745,201 (GRCm39)	D294G	probably benign	Het
Tnks	A	G	8: 35,323,080 (GRCm39)		probably null	Het
Trip4	A	G	9: 65,746,298 (GRCm39)	S533P	probably damaging	Het
Ttc3	T	A	16: 94,258,223 (GRCm39)	W1674R	probably damaging	Het
Tut4	G	A	4: 108,343,651 (GRCm39)	S221N	probably benign	Het
Vmn2r114	T	C	17: 23,530,186 (GRCm39)	N74D	probably benign	Het
Zdbf2	T	C	1: 63,343,330 (GRCm39)	Y570H	possibly damaging	Het

Other mutations in Mkrn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01301:Mkrn2	APN	6	115,588,750 (GRCm39)	nonsense	probably null
IGL02996:Mkrn2	APN	6	115,588,868 (GRCm39)	missense	probably benign	0.00
ANU18:Mkrn2	UTSW	6	115,588,750 (GRCm39)	nonsense	probably null
IGL03134:Mkrn2	UTSW	6	115,590,496 (GRCm39)	missense	probably damaging	1.00
R0086:Mkrn2	UTSW	6	115,590,296 (GRCm39)	missense	possibly damaging	0.87
R0731:Mkrn2	UTSW	6	115,591,612 (GRCm39)	missense	probably damaging	0.96
R1740:Mkrn2	UTSW	6	115,590,330 (GRCm39)	missense	probably damaging	1.00
R1992:Mkrn2	UTSW	6	115,586,562 (GRCm39)	missense	probably damaging	1.00
R2036:Mkrn2	UTSW	6	115,588,875 (GRCm39)	missense	probably benign	0.28
R4291:Mkrn2	UTSW	6	115,594,395 (GRCm39)	missense	possibly damaging	0.73
R4723:Mkrn2	UTSW	6	115,588,811 (GRCm39)	missense	probably damaging	1.00
R6292:Mkrn2	UTSW	6	115,590,295 (GRCm39)	missense	probably damaging	1.00
R6816:Mkrn2	UTSW	6	115,588,689 (GRCm39)	missense	probably damaging	1.00
R9010:Mkrn2	UTSW	6	115,591,583 (GRCm39)	missense	possibly damaging	0.94
R9035:Mkrn2	UTSW	6	115,594,681 (GRCm39)	missense	possibly damaging	0.51
R9282:Mkrn2	UTSW	6	115,591,534 (GRCm39)	critical splice acceptor site	probably null
R9525:Mkrn2	UTSW	6	115,587,486 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGTGCATCCCAGCAGCTTTG -3'
(R):5'- AGTGCCAGCTTGTATTTTGC -3'

Sequencing Primer
(F):5'- TGCCTAGCTTGAGAATCAGAGTACC -3'
(R):5'- TGCCAAAGCTACTAGGAGCCTG -3'

Posted On

2020-09-15