Mutagenetix > Incidental Mutation

Incidental Mutation 'R8759:Mkrn1'

671782

Institutional Source

Beutler Lab

Gene Symbol

Mkrn1

Ensembl Gene

ENSMUSG00000029922

Gene Name

makorin, ring finger protein, 1

Synonyms

MMRRC Submission

068718-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8759 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39374738-39397396 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 39376344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 421 (E421*)

Ref Sequence

ENSEMBL: ENSMUSP00000031985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031985] [ENSMUST00000051671] [ENSMUST00000114823]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000031985
AA Change: E421*

SMART Domains

Protein: ENSMUSP00000031985
Gene: ENSMUSG00000029922
AA Change: E421*

Domain	Start	End	E-Value	Type
low complexity region	2	30	N/A	INTRINSIC
low complexity region	35	54	N/A	INTRINSIC
ZnF_C3H1	55	81	3.86e-7	SMART
ZnF_C3H1	85	110	8.27e-7	SMART
low complexity region	122	142	N/A	INTRINSIC
ZnF_C3H1	208	234	1.13e-4	SMART
RING	281	334	2.09e-7	SMART
low complexity region	349	363	N/A	INTRINSIC
ZnF_C3H1	366	392	2.53e-2	SMART
Pfam:MKRN1_C	400	479	9.1e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000051671

SMART Domains

Protein: ENSMUSP00000084244
Gene: ENSMUSG00000029922

Domain	Start	End	E-Value	Type
low complexity region	2	30	N/A	INTRINSIC
low complexity region	35	54	N/A	INTRINSIC
ZnF_C3H1	55	81	3.86e-7	SMART
ZnF_C3H1	85	110	8.27e-7	SMART
low complexity region	122	142	N/A	INTRINSIC
ZnF_C3H1	208	234	1.13e-4	SMART
RING	281	328	4.72e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114823
AA Change: E357*

SMART Domains

Protein: ENSMUSP00000110471
Gene: ENSMUSG00000029922
AA Change: E357*

Domain	Start	End	E-Value	Type
ZnF_C3H1	1	17	6.26e1	SMART
ZnF_C3H1	21	46	8.27e-7	SMART
low complexity region	58	78	N/A	INTRINSIC
ZnF_C3H1	144	170	1.13e-4	SMART
RING	217	270	2.09e-7	SMART
low complexity region	285	299	N/A	INTRINSIC
ZnF_C3H1	302	328	2.53e-2	SMART
low complexity region	378	395	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122996

SMART Domains

Protein: ENSMUSP00000115231
Gene: ENSMUSG00000029922

Domain	Start	End	E-Value	Type
low complexity region	1	15	N/A	INTRINSIC
ZnF_C3H1	75	96	4.11e-2	SMART
ZnF_C3H1	100	125	8.27e-7	SMART
low complexity region	137	157	N/A	INTRINSIC
ZnF_C3H1	223	249	1.13e-4	SMART
RING	296	343	4.72e-2	SMART

Predicted Effect

silent
Transcript: ENSMUST00000150575

SMART Domains

Protein: ENSMUSP00000121563
Gene: ENSMUSG00000029922

Domain	Start	End	E-Value	Type
RING	52	105	2.09e-7	SMART
low complexity region	170	191	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a novel class of zinc finger proteins. The encoded protein functions as a transcriptional co-regulator, and as an E3 ubiquitin ligase that promotes the ubiquitination and proteasomal degradation of target proteins. The protein encoded by this gene is thought to regulate RNA polymerase II-catalyzed transcription. Substrates for this protein's E3 ubiquitin ligase activity include the capsid protein of the West Nile virus and the catalytic subunit of the telomerase ribonucleoprotein. This protein controls cell cycle arrest and apoptosis by regulating p21, a cell cycle regulator, and the tumor suppressor protein p53. Pseudogenes of this gene are present on chromosomes 1, 3, 9, 12 and 20, and on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a gene-trapped allele are viable and fertile, and show normal kidney morphology, eyelid development, and skeletal morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,365,916 (GRCm39)	T276A	probably benign	Het
6030468B19Rik	T	C	11: 117,697,112 (GRCm39)	V237A	probably benign	Het
Abca15	G	A	7: 120,006,631 (GRCm39)	V1632M	probably damaging	Het
Adamts18	G	A	8: 114,433,624 (GRCm39)	P1037S	probably damaging	Het
Apol7e	T	C	15: 77,602,065 (GRCm39)	V221A	probably benign	Het
Aqp4	T	G	18: 15,533,048 (GRCm39)	H15P	probably benign	Het
Atp6v0d2	T	A	4: 19,910,649 (GRCm39)	R80S	probably benign	Het
Cdh15	A	G	8: 123,587,628 (GRCm39)	D184G	probably damaging	Het
Cers3	G	A	7: 66,435,850 (GRCm39)	V270M	probably damaging	Het
Ces3a	A	G	8: 105,784,129 (GRCm39)	H443R	probably damaging	Het
Cntn1	T	G	15: 92,153,801 (GRCm39)	F485V	possibly damaging	Het
Cog6	A	G	3: 52,897,465 (GRCm39)	L536P	probably damaging	Het
Copa	A	G	1: 171,947,081 (GRCm39)	I1068M	probably benign	Het
Ddx50	T	C	10: 62,452,021 (GRCm39)	D734G	unknown	Het
Dgkz	T	C	2: 91,775,922 (GRCm39)	T114A	probably benign	Het
Dock2	A	T	11: 34,586,067 (GRCm39)	D538E	probably benign	Het
Drg1	T	C	11: 3,204,633 (GRCm39)	S198G	probably benign	Het
Epn3	C	A	11: 94,386,848 (GRCm39)	G174V	possibly damaging	Het
Ficd	G	T	5: 113,876,575 (GRCm39)	R250L	probably damaging	Het
Fmo2	A	G	1: 162,708,005 (GRCm39)	S377P	probably benign	Het
Gm17027	T	C	14: 41,981,251 (GRCm39)	I202V		Het
H6pd	C	T	4: 150,066,758 (GRCm39)	V551I	probably benign	Het
Ighg1	A	T	12: 113,292,657 (GRCm39)	L304*	probably null	Het
Itga8	T	C	2: 12,266,940 (GRCm39)	D165G	probably damaging	Het
Lipt2	GGCGCCCGCGCGCG	GGCG	7: 99,808,888 (GRCm39)		probably null	Het
Lrrc37a	A	G	11: 103,348,766 (GRCm39)	V2643A	unknown	Het
Lyz3	T	A	10: 117,070,340 (GRCm39)	I146F	probably damaging	Het
Mast2	A	T	4: 116,292,757 (GRCm39)	F71Y	possibly damaging	Het
Myo3a	G	T	2: 22,448,319 (GRCm39)	K969N	possibly damaging	Het
Nr1d1	G	C	11: 98,660,073 (GRCm39)	R484G	probably damaging	Het
Nrg1	C	A	8: 32,308,103 (GRCm39)	A686S	probably damaging	Het
Or52e8	T	C	7: 104,624,325 (GRCm39)	N293S	probably damaging	Het
Plxna4	T	A	6: 32,169,276 (GRCm39)	D1307V	probably damaging	Het
Ppihl	A	T	5: 44,070,999 (GRCm39)	N119I	probably benign	Het
Ppp1r13l	G	T	7: 19,103,981 (GRCm39)	G154V	probably damaging	Het
Psmc5	A	G	11: 106,153,687 (GRCm39)	D382G	probably benign	Het
Ptch2	T	C	4: 116,967,630 (GRCm39)	L766P	probably damaging	Het
Rev1	A	C	1: 38,098,353 (GRCm39)	L730R	probably damaging	Het
Rin3	G	A	12: 102,339,861 (GRCm39)	V684I	probably damaging	Het
Secisbp2	G	A	13: 51,833,869 (GRCm39)	V670I	possibly damaging	Het
Sema6d	G	A	2: 124,497,134 (GRCm39)	C136Y	probably damaging	Het
Shprh	T	G	10: 11,032,908 (GRCm39)	V298G	possibly damaging	Het
Slc37a4	C	T	9: 44,313,632 (GRCm39)	T386I	probably benign	Het
Slc4a3	T	C	1: 75,531,282 (GRCm39)	I825T	probably damaging	Het
Spta1	C	T	1: 174,040,940 (GRCm39)	L1247F	probably damaging	Het
Tigar	A	T	6: 127,068,220 (GRCm39)	I66K	probably benign	Het
Tln2	T	C	9: 67,274,500 (GRCm39)	Y376C	probably damaging	Het
Tmem199	T	A	11: 78,398,633 (GRCm39)		probably benign	Het
Tnc	G	A	4: 63,924,501 (GRCm39)	R1066C	possibly damaging	Het
Ubqlnl	T	A	7: 103,799,206 (GRCm39)	H97L	probably damaging	Het
Vmn1r13	A	G	6: 57,187,524 (GRCm39)	T228A	probably damaging	Het
Xab2	T	C	8: 3,661,672 (GRCm39)	T594A	probably benign	Het
Zc3h18	A	G	8: 123,138,124 (GRCm39)	E687G	unknown	Het
Zfp831	A	G	2: 174,487,874 (GRCm39)	T850A	probably benign	Het

Other mutations in Mkrn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01921:Mkrn1	APN	6	39,382,847 (GRCm39)	missense	possibly damaging	0.80
IGL03235:Mkrn1	APN	6	39,378,264 (GRCm39)	missense	probably damaging	1.00
R0127:Mkrn1	UTSW	6	39,376,209 (GRCm39)	missense	probably benign	0.19
R0445:Mkrn1	UTSW	6	39,381,788 (GRCm39)	missense	probably benign	0.28
R1109:Mkrn1	UTSW	6	39,376,268 (GRCm39)	missense	probably damaging	1.00
R1366:Mkrn1	UTSW	6	39,382,851 (GRCm39)	missense	probably benign	0.02
R1783:Mkrn1	UTSW	6	39,377,390 (GRCm39)	missense	probably null
R2002:Mkrn1	UTSW	6	39,382,737 (GRCm39)	missense	probably benign	0.00
R4671:Mkrn1	UTSW	6	39,382,691 (GRCm39)	missense	probably damaging	1.00
R4889:Mkrn1	UTSW	6	39,396,939 (GRCm39)	unclassified	probably benign
R7948:Mkrn1	UTSW	6	39,377,344 (GRCm39)	missense	probably benign	0.17
R8099:Mkrn1	UTSW	6	39,387,031 (GRCm39)	missense	probably benign	0.40
R8192:Mkrn1	UTSW	6	39,376,289 (GRCm39)	missense	probably damaging	1.00
R9223:Mkrn1	UTSW	6	39,378,183 (GRCm39)	missense	possibly damaging	0.91
R9260:Mkrn1	UTSW	6	39,382,530 (GRCm39)	unclassified	probably benign
R9554:Mkrn1	UTSW	6	39,376,838 (GRCm39)	missense	probably benign	0.06
RF016:Mkrn1	UTSW	6	39,396,925 (GRCm39)	missense
Z1088:Mkrn1	UTSW	6	39,377,390 (GRCm39)	missense	probably null
Z1176:Mkrn1	UTSW	6	39,377,390 (GRCm39)	missense	probably null
Z1177:Mkrn1	UTSW	6	39,377,390 (GRCm39)	missense	probably null

Predicted Primers

PCR Primer
(F):5'- ATAAAAGTCCTCCAGCTCATCGTG -3'
(R):5'- ACAGTGTTCAAAAGCCCTAGCC -3'

Sequencing Primer
(F):5'- GCTCATCGTGAAACAAGTCC -3'
(R):5'- AGCCCTAGCCTAACATGTTGG -3'

Posted On

2021-04-30