Mutagenetix > Incidental Mutation

Incidental Mutation 'R2036:Mkrn2'

224631

Institutional Source

Beutler Lab

Gene Symbol

Mkrn2

Ensembl Gene

ENSMUSG00000000439

Gene Name

makorin, ring finger protein, 2

Synonyms

2610002L04Rik

MMRRC Submission

040043-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2036 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115578844-115598647 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115588875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 206 (P206Q)

Ref Sequence

ENSEMBL: ENSMUSP00000000449 (fasta)

Gene Model

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

AlphaFold

Q9ERV1

Predicted Effect

probably benign
Transcript: ENSMUST00000000449
AA Change: P206Q

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000000449
Gene: ENSMUSG00000000439
AA Change: P206Q

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

noncoding transcript
Transcript: ENSMUST00000204409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205248

Meta Mutation Damage Score

0.0794

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

100% (58/58)

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
4930415H17Rik	C	T	11: 99,576,358 (GRCm39)	C3Y	unknown	Het
Abr	G	T	11: 76,343,176 (GRCm39)	T547K	probably benign	Het
Akr1c21	T	C	13: 4,626,305 (GRCm39)	Y110H	probably damaging	Het
Ankar	T	A	1: 72,705,689 (GRCm39)	K556*	probably null	Het
Anks1b	T	C	10: 90,805,715 (GRCm39)	V431A	probably damaging	Het
Ap5b1	T	C	19: 5,618,897 (GRCm39)	S106P	possibly damaging	Het
Arhgap17	T	C	7: 122,917,717 (GRCm39)	N156D	possibly damaging	Het
Arhgap35	T	C	7: 16,297,058 (GRCm39)	E669G	probably damaging	Het
Arhgap44	T	C	11: 64,932,318 (GRCm39)	M201V	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atg4c	C	T	4: 99,106,376 (GRCm39)	T112M	possibly damaging	Het
Bcl11a	A	T	11: 24,114,087 (GRCm39)	N477Y	possibly damaging	Het
Brinp3	A	T	1: 146,577,579 (GRCm39)	I205F	possibly damaging	Het
Capza2	T	C	6: 17,660,777 (GRCm39)	F159S	probably damaging	Het
Cd40	T	C	2: 164,904,221 (GRCm39)	C61R	probably benign	Het
Cdc25c	G	C	18: 34,871,292 (GRCm39)	L275V	probably damaging	Het
Cdh23	A	G	10: 60,301,822 (GRCm39)	I415T	possibly damaging	Het
Clnk	A	T	5: 38,910,143 (GRCm39)		probably null	Het
Ctcfl	C	T	2: 172,943,778 (GRCm39)	R524Q	possibly damaging	Het
Cyb5r4	T	G	9: 86,924,932 (GRCm39)		probably benign	Het
Ddb1	T	A	19: 10,588,186 (GRCm39)		probably benign	Het
Ddx51	C	A	5: 110,804,491 (GRCm39)	Q526K	probably benign	Het
Dennd6a	A	T	14: 26,329,274 (GRCm39)	Q56L	probably damaging	Het
Dhdds	T	C	4: 133,698,410 (GRCm39)	E142G	probably damaging	Het
Dnai1	A	G	4: 41,632,225 (GRCm39)	H553R	probably damaging	Het
Fryl	T	C	5: 73,179,887 (GRCm39)	N2908S	probably benign	Het
Fryl	C	A	5: 73,265,305 (GRCm39)		probably null	Het
Fut9	A	G	4: 25,620,322 (GRCm39)	I164T	probably damaging	Het
Gba2	G	A	4: 43,568,118 (GRCm39)		probably benign	Het
Gm11627	C	T	11: 102,467,580 (GRCm39)	V33I	unknown	Het
Helz2	T	A	2: 180,879,272 (GRCm39)	H782L	probably benign	Het
Kcnmb3	A	G	3: 32,526,531 (GRCm39)	V220A	probably damaging	Het
Kif20a	T	C	18: 34,761,515 (GRCm39)	S303P	possibly damaging	Het
Kif22	A	T	7: 126,630,126 (GRCm39)	V470E	possibly damaging	Het
Majin	C	T	19: 6,263,342 (GRCm39)	T132M	probably benign	Het
Mboat7	A	G	7: 3,688,671 (GRCm39)		probably null	Het
Mphosph9	G	A	5: 124,442,274 (GRCm39)	T358M	probably damaging	Het
Nkd1	A	G	8: 89,318,305 (GRCm39)	D210G	probably damaging	Het
Or4c110	C	T	2: 88,831,976 (GRCm39)	V219I	probably damaging	Het
Or4k41	T	A	2: 111,279,971 (GRCm39)	L162Q	possibly damaging	Het
Or5ae2	G	T	7: 84,505,566 (GRCm39)		probably benign	Het
Or5b95	G	C	19: 12,658,165 (GRCm39)	G231A	probably damaging	Het
Or5p69	T	A	7: 107,966,947 (GRCm39)	N83K	probably benign	Het
Or6c35	G	A	10: 129,169,541 (GRCm39)	D264N	probably benign	Het
Or9s15	A	T	1: 92,524,328 (GRCm39)	E29V	probably benign	Het
Pi4ka	A	G	16: 17,120,976 (GRCm39)	Y63H	probably damaging	Het
Plekha1	A	G	7: 130,503,922 (GRCm39)	R210G	probably damaging	Het
Ppp2r2c	C	T	5: 37,109,748 (GRCm39)	T369I	possibly damaging	Het
Relch	A	G	1: 105,670,979 (GRCm39)	D1029G	probably damaging	Het
Rmnd1	T	C	10: 4,357,884 (GRCm39)	D12G	probably damaging	Het
Rtn2	A	G	7: 19,027,664 (GRCm39)	K120E	probably damaging	Het
Sh3tc1	A	G	5: 35,873,508 (GRCm39)	S30P	probably benign	Het
Tln2	T	C	9: 67,179,986 (GRCm39)	E795G	possibly damaging	Het
Tmprss11d	T	A	5: 86,457,128 (GRCm39)	Y177F	probably damaging	Het
Trrap	C	A	5: 144,765,372 (GRCm39)	D2529E	probably benign	Het
Vmn2r58	A	G	7: 41,513,417 (GRCm39)	Y409H	probably benign	Het
Wdr72	T	A	9: 74,058,876 (GRCm39)	V323D	probably 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
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
R7970:Mkrn2	UTSW	6	115,594,269 (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'- TAGATGCCATCAGGACTGGC -3'
(R):5'- CTGCTGTATCCTAACTACAGAGAC -3'

Sequencing Primer
(F):5'- CCTGGATGACTTGGAGGC -3'
(R):5'- GGCTCAACAAGTGCTCTTAACTGG -3'

Posted On

2014-08-25