Mutagenetix > Incidental Mutation

Incidental Mutation 'R8099:Mkrn1'

630394

Institutional Source

Beutler Lab

Gene Symbol

Mkrn1

Ensembl Gene

ENSMUSG00000029922

Gene Name

makorin, ring finger protein, 1

Synonyms

MMRRC Submission

067531-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8099 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39374738-39397396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39387031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 102 (D102G)

Ref Sequence

ENSEMBL: ENSMUSP00000031985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031985] [ENSMUST00000051671] [ENSMUST00000114822] [ENSMUST00000114823] [ENSMUST00000146785]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031985
AA Change: D102G

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000031985
Gene: ENSMUSG00000029922
AA Change: D102G

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
AA Change: D102G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000084244
Gene: ENSMUSG00000029922
AA Change: D102G

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

possibly damaging
Transcript: ENSMUST00000114822
AA Change: D102G

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110470
Gene: ENSMUSG00000029922
AA Change: D102G

Domain	Start	End	E-Value	Type
SCOP:d1gkub1	2	30	3e-3	SMART
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

Predicted Effect

probably benign
Transcript: ENSMUST00000114823
AA Change: D38G

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110471
Gene: ENSMUSG00000029922
AA Change: D38G

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 damaging
Transcript: ENSMUST00000122996
AA Change: D116G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115231
Gene: ENSMUSG00000029922
AA Change: D116G

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

possibly damaging
Transcript: ENSMUST00000146785
AA Change: D80G

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123440
Gene: ENSMUSG00000029922
AA Change: D80G

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.1%

Validation Efficiency

97% (60/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	C	14: 70,394,969 (GRCm39)	R62G	probably benign	Het
Abcb9	A	G	5: 124,215,308 (GRCm39)	F478L	probably benign	Het
Abcc9	A	T	6: 142,621,257 (GRCm39)	N494K	probably damaging	Het
Atp11a	T	G	8: 12,911,973 (GRCm39)	M124R		Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccdc110	T	A	8: 46,395,130 (GRCm39)	H340Q	probably damaging	Het
Celsr1	A	G	15: 85,915,801 (GRCm39)	L724P	probably damaging	Het
Cfap74	A	G	4: 155,539,489 (GRCm39)	N938S	unknown	Het
Chil3	T	G	3: 106,055,984 (GRCm39)	D363A	probably damaging	Het
Ciart	G	A	3: 95,788,656 (GRCm39)	P61L	probably damaging	Het
Cpne3	A	G	4: 19,525,169 (GRCm39)	V442A	possibly damaging	Het
Ctsh	T	C	9: 89,946,300 (GRCm39)	V130A	probably damaging	Het
Cyp3a44	T	C	5: 145,725,212 (GRCm39)	K330E	probably benign	Het
Dgcr2	A	T	16: 17,667,633 (GRCm39)	D275E	probably damaging	Het
Dnah1	A	T	14: 31,024,321 (GRCm39)	D919E	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Entrep3	T	C	3: 89,091,250 (GRCm39)	F74L	probably damaging	Het
Epb41l3	T	A	17: 69,554,683 (GRCm39)	F261Y	possibly damaging	Het
Fbxo3	A	C	2: 103,885,280 (GRCm39)	H383P	probably damaging	Het
Foxp1	C	T	6: 98,922,510 (GRCm39)	V441M	unknown	Het
Gm29106	C	T	1: 118,126,521 (GRCm39)	S71F	probably benign	Het
Golga3	T	A	5: 110,336,573 (GRCm39)	L364*	probably null	Het
H1f1	C	T	13: 23,947,832 (GRCm39)	L45F	probably damaging	Het
Herc1	T	A	9: 66,279,422 (GRCm39)	L110H	probably damaging	Het
Igkv4-53	A	T	6: 69,625,898 (GRCm39)	S90T	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Kti12	G	T	4: 108,705,571 (GRCm39)	G162W	probably damaging	Het
Lama3	T	A	18: 12,667,120 (GRCm39)	I763N	probably damaging	Het
Macf1	A	T	4: 123,369,922 (GRCm39)	I1613K	probably benign	Het
Muc2	T	A	7: 141,299,175 (GRCm39)		probably null	Het
Nipal4	T	C	11: 46,052,848 (GRCm39)	E39G	probably benign	Het
Nr1h2	T	C	7: 44,199,746 (GRCm39)	Y391C	possibly damaging	Het
Odam	T	C	5: 88,040,299 (GRCm39)	I255T	possibly damaging	Het
Or11m3	A	G	15: 98,395,694 (GRCm39)	M114V	probably benign	Het
Or6c35	T	A	10: 129,168,996 (GRCm39)	I82K	probably damaging	Het
Or9m1	T	A	2: 87,733,852 (GRCm39)	H56L	probably damaging	Het
Per3	A	T	4: 151,097,014 (GRCm39)	M837K	possibly damaging	Het
Pitpnm3	T	A	11: 71,961,144 (GRCm39)	H357L	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plcb1	T	C	2: 135,093,654 (GRCm39)	Y156H	possibly damaging	Het
Ppm1d	C	T	11: 85,230,492 (GRCm39)	P370L	possibly damaging	Het
Prrc2b	T	C	2: 32,098,686 (GRCm39)	V666A	probably benign	Het
Ptpn3	A	T	4: 57,204,985 (GRCm39)	C725*	probably null	Het
Rapgefl1	T	C	11: 98,738,209 (GRCm39)	W437R	probably damaging	Het
Sema4g	T	C	19: 44,980,967 (GRCm39)	L5P	probably damaging	Het
Sipa1l1	C	T	12: 82,480,600 (GRCm39)	P1529L	probably benign	Het
Slc12a2	T	C	18: 58,032,464 (GRCm39)	L388P	probably damaging	Het
Sltm	T	A	9: 70,493,360 (GRCm39)	S786T	probably damaging	Het
Srsf1	T	C	11: 87,940,082 (GRCm39)	I198T	probably benign	Het
Ssh2	C	T	11: 77,345,755 (GRCm39)	R1247*	probably null	Het
Ssu2	T	C	6: 112,353,438 (GRCm39)	T229A	probably benign	Het
Stra6	T	A	9: 58,059,777 (GRCm39)	H579Q	probably damaging	Het
Tanc2	T	A	11: 105,754,833 (GRCm39)	V559E	probably benign	Het
Trp53bp1	A	G	2: 121,030,230 (GRCm39)	Y1762H	probably damaging	Het
Usp15	T	C	10: 122,982,826 (GRCm39)	Y263C	possibly damaging	Het
Usp17ld	A	T	7: 102,899,495 (GRCm39)	V479E	probably damaging	Het
Vmn2r15	A	T	5: 109,441,185 (GRCm39)	S224R	possibly damaging	Het
Vmn2r8	A	T	5: 108,949,700 (GRCm39)	N382K	probably benign	Het
Vmn2r94	T	C	17: 18,477,659 (GRCm39)	I251V	probably benign	Het
Wnt2b	A	T	3: 104,854,408 (GRCm39)	V350D	possibly 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
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
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'- TGTGGTGGTTTCAAATGCATCC -3'
(R):5'- ACTGGTGGTAATGAATTCTTCGAG -3'

Sequencing Primer
(F):5'- GACTCTGTCCAGATGTTAGTGAAAGC -3'
(R):5'- AATGAATTCTTCGAGAGTTGGC -3'

Posted On

2020-06-30