Mutagenetix > Incidental Mutation

Incidental Mutation 'R2002:Mkrn1'

223188

Institutional Source

Beutler Lab

Gene Symbol

Mkrn1

Ensembl Gene

ENSMUSG00000029922

Gene Name

makorin, ring finger protein, 1

Synonyms

MMRRC Submission

040012-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2002 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39374738-39397396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39382737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 158 (T158A)

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: T158A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031985
Gene: ENSMUSG00000029922
AA Change: T158A

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: T158A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000084244
Gene: ENSMUSG00000029922
AA Change: T158A

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
AA Change: T158A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110470
Gene: ENSMUSG00000029922
AA Change: T158A

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: T94A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110471
Gene: ENSMUSG00000029922
AA Change: T94A

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

noncoding transcript
Transcript: ENSMUST00000122874

Predicted Effect

unknown
Transcript: ENSMUST00000122996
AA Change: T172A

SMART Domains

Protein: ENSMUSP00000115231
Gene: ENSMUSG00000029922
AA Change: T172A

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
AA Change: T136A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123440
Gene: ENSMUSG00000029922
AA Change: T136A

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 benign
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

Meta Mutation Damage Score

0.0585

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.6%

Validation Efficiency

97% (72/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548G14Rik	T	C	15: 46,489,002 (GRCm39)		noncoding transcript	Het
Abcb4	T	A	5: 8,955,989 (GRCm39)	S98T	probably benign	Het
Acan	T	C	7: 78,750,541 (GRCm39)	S1771P	probably damaging	Het
Acvr1c	T	A	2: 58,205,987 (GRCm39)	Q41L	probably benign	Het
Ak2	T	A	4: 128,902,022 (GRCm39)	S232T	probably benign	Het
Akr1e1	T	A	13: 4,657,564 (GRCm39)		probably benign	Het
Ano7	T	C	1: 93,328,303 (GRCm39)		probably benign	Het
Aox1	T	A	1: 58,086,300 (GRCm39)	H68Q	possibly damaging	Het
Apaf1	A	G	10: 90,897,676 (GRCm39)	V269A	possibly damaging	Het
Apba2	A	T	7: 64,383,290 (GRCm39)	I368F	probably damaging	Het
Armc3	A	G	2: 19,293,747 (GRCm39)	M513V	probably benign	Het
Asb5	G	A	8: 55,036,655 (GRCm39)	V116M	probably damaging	Het
Atg16l2	A	G	7: 100,944,127 (GRCm39)	S280P	possibly damaging	Het
Atp6v0c	G	T	17: 24,383,835 (GRCm39)	T40K	probably damaging	Het
Cdk2ap2	A	G	19: 4,147,903 (GRCm39)	M57V	possibly damaging	Het
Cip2a	T	C	16: 48,826,214 (GRCm39)		probably benign	Het
Ctnnd1	T	C	2: 84,450,704 (GRCm39)	N172S	probably benign	Het
Ddx55	T	A	5: 124,704,503 (GRCm39)	V370E	probably damaging	Het
Ddx6	A	G	9: 44,518,831 (GRCm39)	T48A	probably benign	Het
Dnah10	C	T	5: 124,911,052 (GRCm39)	R4490W	probably damaging	Het
Dspp	T	A	5: 104,326,425 (GRCm39)	S929R	unknown	Het
Erbb3	T	C	10: 128,422,094 (GRCm39)	Y50C	probably benign	Het
Fam209	C	A	2: 172,314,689 (GRCm39)	N59K	probably benign	Het
Fgd3	T	C	13: 49,449,931 (GRCm39)	E106G	probably benign	Het
Frmd4a	A	C	2: 4,577,176 (GRCm39)	K344T	probably damaging	Het
Gbe1	A	G	16: 70,325,814 (GRCm39)	E617G	probably damaging	Het
Gm5089	T	A	14: 122,673,686 (GRCm39)	I12F	unknown	Het
Gm7052	T	A	17: 22,258,920 (GRCm39)		probably benign	Het
Gria1	A	T	11: 56,902,930 (GRCm39)	N24I	possibly damaging	Het
Grin2b	T	C	6: 135,710,243 (GRCm39)	E1101G	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Kcnma1	A	C	14: 23,387,097 (GRCm39)	S982A	probably damaging	Het
Khdrbs3	T	A	15: 68,885,328 (GRCm39)		probably benign	Het
Kif23	A	T	9: 61,834,666 (GRCm39)	C426*	probably null	Het
Lmo7	G	T	14: 102,124,497 (GRCm39)	A319S	probably benign	Het
Ly6c1	T	A	15: 74,920,342 (GRCm39)	T7S	possibly damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Mamdc4	A	T	2: 25,457,244 (GRCm39)	W548R	probably damaging	Het
Mfsd2a	C	T	4: 122,850,609 (GRCm39)	R88Q	probably damaging	Het
Mroh2b	G	T	15: 4,955,166 (GRCm39)	D720Y	probably damaging	Het
Mycbp2	A	G	14: 103,485,839 (GRCm39)	V1041A	probably damaging	Het
Ncam2	A	T	16: 81,386,586 (GRCm39)	H655L	possibly damaging	Het
Npas2	T	C	1: 39,377,276 (GRCm39)	V546A	probably benign	Het
Nrxn3	G	A	12: 90,299,089 (GRCm39)	A400T	probably damaging	Het
Oog3	G	T	4: 143,884,675 (GRCm39)	H420Q	possibly damaging	Het
Or3a10	A	T	11: 73,935,865 (GRCm39)	S78R	possibly damaging	Het
Or5ap2	T	A	2: 85,680,744 (GRCm39)	V316E	probably benign	Het
Or8k28	T	C	2: 86,285,817 (GRCm39)	H266R	probably benign	Het
Pak5	T	A	2: 135,958,557 (GRCm39)	H177L	probably benign	Het
Pcca	A	G	14: 123,124,477 (GRCm39)	I683V	probably benign	Het
Pea15a	T	C	1: 172,026,252 (GRCm39)	I90V	probably benign	Het
Plagl1	C	A	10: 13,004,402 (GRCm39)		probably benign	Het
Prmt1	A	G	7: 44,628,148 (GRCm39)	V237A	probably damaging	Het
Ptprz1	T	A	6: 23,027,833 (GRCm39)	Y910*	probably null	Het
Rasal3	T	A	17: 32,612,585 (GRCm39)	T757S	probably damaging	Het
Rbbp8	T	C	18: 11,860,223 (GRCm39)		probably benign	Het
S1pr1	A	G	3: 115,506,544 (GRCm39)	S17P	probably benign	Het
Scel	G	A	14: 103,779,421 (GRCm39)	V131M	probably damaging	Het
Scn2a	G	A	2: 65,512,427 (GRCm39)	R188Q	probably null	Het
Snap29	T	A	16: 17,224,190 (GRCm39)	Y68*	probably null	Het
Spdl1	T	C	11: 34,713,473 (GRCm39)	T199A	probably benign	Het
Srbd1	T	C	17: 86,449,828 (GRCm39)	N14D	probably benign	Het
Ston1	G	A	17: 88,942,957 (GRCm39)	G121D	probably benign	Het
Syt16	G	A	12: 74,281,977 (GRCm39)	G367E	possibly damaging	Het
Tdpoz1	T	C	3: 93,578,710 (GRCm39)	T25A	possibly damaging	Het
Tmem182	T	A	1: 40,845,355 (GRCm39)	Y77N	probably damaging	Het
Tmprss11f	A	T	5: 86,687,627 (GRCm39)		probably benign	Het
Trp73	T	C	4: 154,165,902 (GRCm39)	T56A	probably damaging	Het
Trpm3	A	G	19: 22,959,947 (GRCm39)	K1194R	probably damaging	Het
Ttc39c	T	A	18: 12,830,935 (GRCm39)		probably null	Het
Ube4b	T	C	4: 149,468,254 (GRCm39)	D174G	probably benign	Het
Vmn1r211	A	T	13: 23,035,953 (GRCm39)	M238K	probably damaging	Het
Wsb2	T	A	5: 117,508,798 (GRCm39)	N77K	probably benign	Het
Xkr4	C	T	1: 3,741,318 (GRCm39)	R85Q	probably benign	Het
Zmynd11	T	A	13: 9,739,514 (GRCm39)		probably null	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
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
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'- CCAATCTAATGTGTTGACAGTAGG -3'
(R):5'- AAGAGTCTGGGAGCTCCATGTAG -3'

Sequencing Primer
(F):5'- GTGTTGACAGTAGGTTAAGCTCAAAC -3'
(R):5'- AGCTCCATGTAGCACGATTG -3'

Posted On

2014-08-25