Mutagenetix > Incidental Mutation

Incidental Mutation 'R9223:Mkrn1'

699592

Institutional Source

Beutler Lab

Gene Symbol

Mkrn1

Ensembl Gene

ENSMUSG00000029922

Gene Name

makorin, ring finger protein, 1

Synonyms

MMRRC Submission

068959-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39374738-39397396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39378183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 316 (K316R)

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

possibly damaging
Transcript: ENSMUST00000031985
AA Change: K316R

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031985
Gene: ENSMUSG00000029922
AA Change: K316R

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: K316R

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000084244
Gene: ENSMUSG00000029922
AA Change: K316R

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: ENSMUST00000114822

SMART Domains

Protein: ENSMUSP00000110470
Gene: ENSMUSG00000029922

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

possibly damaging
Transcript: ENSMUST00000114823
AA Change: K252R

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110471
Gene: ENSMUSG00000029922
AA Change: K252R

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

possibly damaging
Transcript: ENSMUST00000122996
AA Change: K330R

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115231
Gene: ENSMUSG00000029922
AA Change: K330R

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

probably damaging
Transcript: ENSMUST00000150575
AA Change: K86R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121563
Gene: ENSMUSG00000029922
AA Change: K86R

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: 100.0%
10x: 99.7%
20x: 99.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	C	A	9: 101,820,193 (GRCm39)	D204E	possibly damaging	Het
Aldh3a2	A	G	11: 61,156,037 (GRCm39)	S80P	probably benign	Het
Bcl6b	A	T	11: 70,117,400 (GRCm39)	Y407*	probably null	Het
Ccn2	T	C	10: 24,471,856 (GRCm39)	V49A	probably benign	Het
Cel	TTA	TTATA	2: 28,449,441 (GRCm39)		probably null	Het
Cerkl	A	T	2: 79,171,674 (GRCm39)	C395S	probably damaging	Het
Chst5	C	A	8: 112,617,492 (GRCm39)	V43L	probably benign	Het
Clip1	A	T	5: 123,784,337 (GRCm39)	F271I	probably damaging	Het
Clspn	A	G	4: 126,484,411 (GRCm39)	T1190A	possibly damaging	Het
Col20a1	A	T	2: 180,648,528 (GRCm39)	E938D	probably damaging	Het
Dmrta2	G	A	4: 109,839,779 (GRCm39)	V509M	probably damaging	Het
Dnah7b	T	A	1: 46,361,420 (GRCm39)	M3440K	probably benign	Het
Erlin1	A	G	19: 44,029,184 (GRCm39)		probably null	Het
Fam24b	A	G	7: 130,927,869 (GRCm39)	S107P	probably benign	Het
Fancm	T	A	12: 65,149,358 (GRCm39)	I708N	probably benign	Het
Fbxo11	A	T	17: 88,323,124 (GRCm39)	D12E		Het
Fbxw13	T	C	9: 109,024,116 (GRCm39)	D39G	probably damaging	Het
Gabrb3	T	G	7: 57,466,152 (GRCm39)	L322R	probably damaging	Het
Gm5239	A	T	18: 35,669,672 (GRCm39)	I13F	possibly damaging	Het
Heatr1	A	G	13: 12,419,802 (GRCm39)	Y375C	probably benign	Het
Helq	A	T	5: 100,946,303 (GRCm39)	S13T	possibly damaging	Het
Helz	A	G	11: 107,509,918 (GRCm39)	T514A	probably benign	Het
Hook3	A	G	8: 26,522,552 (GRCm39)	V32A		Het
Htra4	A	G	8: 25,527,048 (GRCm39)	I249T	possibly damaging	Het
Htt	G	T	5: 35,062,692 (GRCm39)	V2809L	probably benign	Het
Ifi203	T	A	1: 173,765,437 (GRCm39)	I46F	probably benign	Het
Kcna2	A	T	3: 107,012,306 (GRCm39)	I296F	possibly damaging	Het
Kndc1	A	G	7: 139,501,357 (GRCm39)	E882G	possibly damaging	Het
Krtap16-1	A	T	11: 99,876,071 (GRCm39)	D444E	probably benign	Het
Lrrtm3	ATTTT	ATTTTT	10: 63,925,035 (GRCm39)		probably null	Het
Mdga2	C	T	12: 66,615,634 (GRCm39)	D658N	possibly damaging	Het
Mmd2	C	T	5: 142,553,666 (GRCm39)	C165Y	probably damaging	Het
Mpdz	A	G	4: 81,202,867 (GRCm39)	F1843L	probably damaging	Het
Mrc2	G	A	11: 105,220,093 (GRCm39)	R338Q	probably damaging	Het
Naip5	C	T	13: 100,364,184 (GRCm39)	R372H	probably benign	Het
Nav2	C	A	7: 49,202,599 (GRCm39)	S1461Y	probably damaging	Het
Nol8	T	A	13: 49,814,738 (GRCm39)	V282D	possibly damaging	Het
Nup98	C	A	7: 101,834,167 (GRCm39)	G265V	possibly damaging	Het
Or1ak2	T	C	2: 36,827,911 (GRCm39)	F260S	probably damaging	Het
Or2d3b	A	G	7: 106,513,980 (GRCm39)	T192A	possibly damaging	Het
Or2h15	C	T	17: 38,442,012 (GRCm39)	E24K	possibly damaging	Het
Or4f58	T	A	2: 111,851,517 (GRCm39)	K227N	possibly damaging	Het
Or4f62	T	A	2: 111,986,473 (GRCm39)	M59K	possibly damaging	Het
Or8k18	G	T	2: 86,085,544 (GRCm39)	F164L	possibly damaging	Het
Otogl	T	A	10: 107,690,205 (GRCm39)	E888D	probably damaging	Het
Pcdhgc4	A	G	18: 37,948,685 (GRCm39)	I34V	possibly damaging	Het
Ppp1r12b	T	C	1: 134,807,376 (GRCm39)	R417G	probably benign	Het
Rtn4	A	G	11: 29,656,778 (GRCm39)	S311G	probably benign	Het
Serinc3	A	G	2: 163,478,812 (GRCm39)	V105A	probably benign	Het
Serpina3f	A	G	12: 104,183,444 (GRCm39)	D102G	possibly damaging	Het
Sik3	A	G	9: 46,066,772 (GRCm39)	I184V	probably damaging	Het
Spopfm2	A	C	3: 94,082,950 (GRCm39)	L287R	probably damaging	Het
Tex35	A	T	1: 156,935,436 (GRCm39)	C21S	probably benign	Het
Tfap2b	T	C	1: 19,282,649 (GRCm39)		probably null	Het
Thbs4	C	T	13: 92,897,998 (GRCm39)	C607Y	probably damaging	Het
Tmem144	A	T	3: 79,734,964 (GRCm39)	N151K	probably benign	Het
Tomm70a	T	A	16: 56,963,166 (GRCm39)	M395K	probably benign	Het
Trim43b	A	C	9: 88,967,663 (GRCm39)	H324Q	probably benign	Het
Vmn2r116	A	T	17: 23,620,141 (GRCm39)	Y625F	probably damaging	Het
Yipf3	A	T	17: 46,559,798 (GRCm39)	N38I	probably damaging	Het
Zfp804b	T	A	5: 6,821,496 (GRCm39)	E522D	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
R8759:Mkrn1	UTSW	6	39,376,344 (GRCm39)	nonsense	probably null
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'- TGATACACAGGGTTTCCTCATTC -3'
(R):5'- CATTGAGGCCCATGAGAAGG -3'

Sequencing Primer
(F):5'- GGCTAGCTGAAGTACAAAGAAATCCC -3'
(R):5'- AAGGACATGGAGCTCTCTTTTGC -3'

Posted On

2022-02-07