Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Mkrn2'

67550

Institutional Source

Beutler Lab

Gene Symbol

Mkrn2

Ensembl Gene

ENSMUSG00000000439

Gene Name

makorin, ring finger protein, 2

Synonyms

MMRRC Submission

038912-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0731 (G1)

Quality Score

115

Status

Validated

Chromosome

Chromosomal Location

115601902-115622624 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115614651 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 312 (N312Y)

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: N312Y

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000000449
Gene: ENSMUSG00000000439
AA Change: N312Y

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

noncoding transcript
Transcript: ENSMUST00000130528

Predicted Effect

probably benign
Transcript: ENSMUST00000203142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203276

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205248

Meta Mutation Damage Score

0.1260

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	T	C	10: 100,586,203	T66A	probably damaging	Het
4933406M09Rik	A	C	1: 134,389,975	M162L	probably benign	Het
Acsm3	A	T	7: 119,768,024	R27*	probably null	Het
Actg1	A	G	11: 120,346,949	F255S	probably damaging	Het
Ahdc1	T	A	4: 133,062,951	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,305,390	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,997,495		probably null	Het
Cacnb2	A	G	2: 14,985,706	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,579,143	K398N	probably damaging	Het
Cd79b	G	T	11: 106,312,433	S145R	probably damaging	Het
Cdh11	T	A	8: 102,668,019	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,901,597	D2892G	probably benign	Het
Chuk	A	G	19: 44,103,766		probably benign	Het
Clk3	T	C	9: 57,751,126		probably benign	Het
Dcaf8	A	T	1: 172,172,509	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,183,089	T87A	probably damaging	Het
Ddx50	T	C	10: 62,616,249	N732D	unknown	Het
Dnah5	A	T	15: 28,311,143	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,969,856	V858E	probably damaging	Het
Fer1l4	A	G	2: 156,024,070	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,113,854	I125V	probably benign	Het
Fuca2	C	T	10: 13,506,027	P228L	probably benign	Het
Galntl6	A	G	8: 58,535,984	F57L	probably benign	Het
Gigyf2	T	A	1: 87,407,727		probably benign	Het
Gm16505	A	T	13: 3,361,329		noncoding transcript	Het
Gm4781	T	C	10: 100,396,777		noncoding transcript	Het
Gm9956	T	A	10: 56,745,543	Y100*	probably null	Het
Gpr137c	T	A	14: 45,246,349	C178S	probably damaging	Het
Gpr83	A	G	9: 14,868,644	R331G	probably benign	Het
Hlcs	T	A	16: 94,131,852	H851L	probably damaging	Het
Kbtbd6	C	A	14: 79,451,884	Y6*	probably null	Het
Kif23	T	C	9: 61,925,032	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,105,733	T487I	probably damaging	Het
Klra5	A	C	6: 129,908,796	D133E	possibly damaging	Het
Klra6	T	C	6: 130,022,705	E100G	probably damaging	Het
Klre1	T	A	6: 129,585,568		probably benign	Het
Lancl1	C	T	1: 67,009,910		probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Man1b1	A	G	2: 25,338,155	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,874,264		probably benign	Het
Mast3	A	G	8: 70,781,321	S178P	probably damaging	Het
Mau2	A	G	8: 70,023,612		probably null	Het
Mrvi1	T	C	7: 110,876,900	S615G	probably benign	Het
Myh1	A	G	11: 67,202,533	E150G	probably damaging	Het
Myo7b	T	A	18: 31,961,825		probably null	Het
Nyap1	A	G	5: 137,735,298	V491A	probably damaging	Het
Olfr1284	A	G	2: 111,379,293	M98V	probably damaging	Het
Olfr484	T	C	7: 108,124,734	I176M	probably benign	Het
Olfr518	A	T	7: 108,881,533	N24K	probably damaging	Het
Olfr954	T	C	9: 39,461,532	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893	H385Q	probably damaging	Het
Pbld2	T	C	10: 63,056,811	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,029,305	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,351,541	H266Q	probably damaging	Het
Rbfox2	A	G	15: 77,099,279	S141P	probably benign	Het
Rdx	A	G	9: 52,068,218	T214A	probably benign	Het
Ripor2	A	T	13: 24,680,644	E219V	probably damaging	Het
Rufy2	G	A	10: 63,011,844		probably benign	Het
Slf2	T	A	19: 44,975,726		probably benign	Het
Snrnp200	G	T	2: 127,226,145		probably benign	Het
Snx7	T	A	3: 117,829,671		probably benign	Het
Stt3a	T	C	9: 36,735,512	I602V	probably damaging	Het
Tacr3	G	A	3: 134,855,000		probably null	Het
Tcerg1	C	T	18: 42,571,840	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,788,269	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,365,488	D860G	probably damaging	Het
Try4	T	C	6: 41,304,367	L81P	probably benign	Het
Ucp1	T	C	8: 83,297,847		probably benign	Het
Ugt2b38	G	A	5: 87,420,452	A328V	probably damaging	Het
Wfikkn1	T	A	17: 25,878,017	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,410,632	T875A	probably benign	Het
Zfp11	A	G	5: 129,657,264	S378P	probably damaging	Het
Zfp984	T	A	4: 147,756,232	N54I	probably damaging	Het

Other mutations in Mkrn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01301:Mkrn2	APN	6	115611789	nonsense	probably null
IGL02996:Mkrn2	APN	6	115611907	missense	probably benign	0.00
ANU18:Mkrn2	UTSW	6	115611789	nonsense	probably null
IGL03134:Mkrn2	UTSW	6	115613535	missense	probably damaging	1.00
R0086:Mkrn2	UTSW	6	115613335	missense	possibly damaging	0.87
R1740:Mkrn2	UTSW	6	115613369	missense	probably damaging	1.00
R1992:Mkrn2	UTSW	6	115609601	missense	probably damaging	1.00
R2036:Mkrn2	UTSW	6	115611914	missense	probably benign	0.28
R4291:Mkrn2	UTSW	6	115617434	missense	possibly damaging	0.73
R4723:Mkrn2	UTSW	6	115611850	missense	probably damaging	1.00
R6292:Mkrn2	UTSW	6	115613334	missense	probably damaging	1.00
R6816:Mkrn2	UTSW	6	115611728	missense	probably damaging	1.00
R7970:Mkrn2	UTSW	6	115617308	missense	probably damaging	1.00
R9010:Mkrn2	UTSW	6	115614622	missense	possibly damaging	0.94
R9035:Mkrn2	UTSW	6	115617720	missense	possibly damaging	0.51
R9282:Mkrn2	UTSW	6	115614573	critical splice acceptor site	probably null
R9525:Mkrn2	UTSW	6	115610525	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATGGTCACAGTTGCTTGGCCTC -3'
(R):5'- ACAACCTTGGCACGTAGGCATAG -3'

Sequencing Primer
(F):5'- GCCTTCCATAGTCACTGAAGATG -3'
(R):5'- GGCATAGGGCTCATCTTAGAACTC -3'

Posted On

2013-09-03