Mutagenetix > Incidental Mutation

Incidental Mutation 'R9554:Mkrn1'

720653

Institutional Source

Beutler Lab

Gene Symbol

Mkrn1

Ensembl Gene

ENSMUSG00000029922

Gene Name

makorin, ring finger protein, 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9554 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39374738-39397396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 39376838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 377 (R377H)

Ref Sequence

ENSEMBL: ENSMUSP00000031985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031985] [ENSMUST00000051671] [ENSMUST00000114823] [ENSMUST00000146785]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031985
AA Change: R377H

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000031985
Gene: ENSMUSG00000029922
AA Change: R377H

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 benign
Transcript: ENSMUST00000114823
AA Change: R313H

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110471
Gene: ENSMUSG00000029922
AA Change: R313H

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

probably benign
Transcript: ENSMUST00000146785

SMART Domains

Protein: ENSMUSP00000123440
Gene: ENSMUSG00000029922

Domain	Start	End	E-Value	Type
ZnF_C3H1	34	59	1.56e-2	SMART
ZnF_C3H1	63	88	8.27e-7	SMART
low complexity region	100	120	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000121563
Gene: ENSMUSG00000029922
AA Change: V125M

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: 99.6%
20x: 98.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,029,107 (GRCm39)	E817G	probably benign	Het
Abhd12b	A	G	12: 70,215,988 (GRCm39)	T182A	probably benign	Het
Allc	A	T	12: 28,607,414 (GRCm39)	C279*	probably null	Het
Ang	A	G	14: 51,338,976 (GRCm39)	D39G	probably damaging	Het
Atp8b3	G	A	10: 80,360,197 (GRCm39)	T958M	probably damaging	Het
Ccn4	G	A	15: 66,784,900 (GRCm39)	R191K	probably benign	Het
Ccnyl1	A	G	1: 64,753,750 (GRCm39)	Y187C	probably damaging	Het
Cfhr4	A	T	1: 139,668,169 (GRCm39)	S321R	probably benign	Het
Chd3	A	T	11: 69,251,015 (GRCm39)	W616R	probably damaging	Het
Cyp17a1	C	T	19: 46,657,165 (GRCm39)	R361H	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dcp1a	A	G	14: 30,201,691 (GRCm39)	Q38R	probably benign	Het
Ddias	T	C	7: 92,507,560 (GRCm39)	N785S	probably benign	Het
Depdc5	A	G	5: 33,122,076 (GRCm39)	N1133S	probably benign	Het
Dhx8	T	A	11: 101,645,614 (GRCm39)	Y877*	probably null	Het
Dlk1	G	A	12: 109,420,889 (GRCm39)	V15I	unknown	Het
Fam120b	G	A	17: 15,626,020 (GRCm39)	A458T	possibly damaging	Het
Fgd4	G	A	16: 16,308,353 (GRCm39)	T9I	probably benign	Het
Fhip1b	C	A	7: 105,038,915 (GRCm39)	R108L	probably damaging	Het
Gfpt1	C	T	6: 87,062,323 (GRCm39)	R561W	probably damaging	Het
Gm5773	A	G	3: 93,680,340 (GRCm39)	D4G	probably benign	Het
Helz2	T	A	2: 180,882,470 (GRCm39)	T108S	probably damaging	Het
Hivep1	G	A	13: 42,308,251 (GRCm39)	D164N	possibly damaging	Het
Kif15	G	T	9: 122,828,585 (GRCm39)	L902F	probably damaging	Het
Lrp2	T	A	2: 69,261,497 (GRCm39)	R4481S	probably damaging	Het
Mcm3ap	T	C	10: 76,332,310 (GRCm39)	V1209A	probably damaging	Het
Ms4a4a	G	A	19: 11,367,708 (GRCm39)	M191I	probably benign	Het
Myh11	T	A	16: 14,018,580 (GRCm39)	N1922I		Het
Nbeal1	C	T	1: 60,290,287 (GRCm39)	Q998*	probably null	Het
Neil3	C	A	8: 54,061,770 (GRCm39)	G204C	probably damaging	Het
Nsmce1	T	C	7: 125,066,994 (GRCm39)	E262G	possibly damaging	Het
Oc90	G	A	15: 65,761,437 (GRCm39)	P194S	probably benign	Het
Oplah	A	G	15: 76,193,787 (GRCm39)	S57P	probably benign	Het
Or10u4	A	T	10: 129,802,181 (GRCm39)	F123L	probably benign	Het
Or1x6	T	A	11: 50,939,223 (GRCm39)	Y96*	probably null	Het
Or2aj4	T	A	16: 19,384,722 (GRCm39)	I304F	possibly damaging	Het
Or4a73	C	A	2: 89,420,710 (GRCm39)	V250F	probably damaging	Het
Or4d5	T	A	9: 40,012,160 (GRCm39)	M209L	probably benign	Het
Or51g1	A	T	7: 102,633,774 (GRCm39)	I199N	probably damaging	Het
Or5p70	A	G	7: 107,994,365 (GRCm39)	T13A	probably benign	Het
Or8g28	A	C	9: 39,169,756 (GRCm39)	F71V	possibly damaging	Het
Pdzd8	A	T	19: 59,333,574 (GRCm39)	L149Q	probably damaging	Het
Pid1	A	G	1: 84,137,032 (GRCm39)	V33A	probably benign	Het
Polr3gl	A	G	3: 96,489,037 (GRCm39)	V60A	possibly damaging	Het
Prdm1	A	G	10: 44,317,242 (GRCm39)	V527A	probably benign	Het
Sbf2	T	C	7: 110,040,671 (GRCm39)	I385M	probably damaging	Het
Setbp1	C	T	18: 78,826,599 (GRCm39)	S1338N	probably benign	Het
Sh2b2	T	C	5: 136,253,006 (GRCm39)	T389A	probably benign	Het
Skint9	A	T	4: 112,248,915 (GRCm39)	M171K	probably benign	Het
Slx4	C	A	16: 3,805,820 (GRCm39)	M577I	probably benign	Het
Srcap	T	C	7: 127,151,577 (GRCm39)	S2092P	probably damaging	Het
Traf6	T	A	2: 101,518,953 (GRCm39)	H147Q	probably benign	Het
Ttn	T	A	2: 76,547,693 (GRCm39)	E32159V	possibly damaging	Het
Ubn1	T	C	16: 4,888,492 (GRCm39)	S154P	unknown	Het
Uchl1	T	A	5: 66,833,649 (GRCm39)	M6K	probably damaging	Het
Vmn1r193	A	T	13: 22,403,989 (GRCm39)	M1K	probably null	Het
Zfp429	T	A	13: 67,538,531 (GRCm39)	K304N	probably benign	Het
Zfp607b	T	A	7: 27,402,464 (GRCm39)	S307T	probably damaging	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
R8759:Mkrn1	UTSW	6	39,376,344 (GRCm39)	nonsense	probably null
R9223:Mkrn1	UTSW	6	39,378,183 (GRCm39)	missense	possibly damaging	0.91
R9260:Mkrn1	UTSW	6	39,382,530 (GRCm39)	unclassified	probably benign
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'- GTGCAGGTCTCAACTGACAG -3'
(R):5'- CCAGGTCATGAGAGTCAAGG -3'

Sequencing Primer
(F):5'- AGGTCTCAACTGACAGTGTGC -3'
(R):5'- TAAGCAGAGACGTTTCTAGTCAGTG -3'

Posted On

2022-08-09