Mutagenetix > Incidental Mutation

Incidental Mutation 'R5932:Mkrn3'

461927

Institutional Source

Beutler Lab

Gene Symbol

Mkrn3

Ensembl Gene

ENSMUSG00000070527

Gene Name

makorin, ring finger protein, 3

Synonyms

D7H15S9-1, Zfp127

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62067341-62069887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62068655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 379 (C379R)

Ref Sequence

ENSEMBL: ENSMUSP00000091898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094340]

AlphaFold

Q60764

Predicted Effect

probably damaging
Transcript: ENSMUST00000094340
AA Change: C379R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091898
Gene: ENSMUSG00000070527
AA Change: C379R

Domain	Start	End	E-Value	Type
low complexity region	9	25	N/A	INTRINSIC
low complexity region	36	46	N/A	INTRINSIC
ZnF_C3H1	92	118	7.31e-8	SMART
low complexity region	156	172	N/A	INTRINSIC
low complexity region	205	220	N/A	INTRINSIC
ZnF_C3H1	275	300	3.95e-4	SMART
RING	347	400	5.14e-7	SMART
low complexity region	415	422	N/A	INTRINSIC
ZnF_C3H1	432	458	1.16e-1	SMART
Pfam:MKRN1_C	467	542	1.3e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207232

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,870,518 (GRCm39)	S7T	possibly damaging	Het
Aatk	C	T	11: 119,912,359 (GRCm39)	G29S	probably damaging	Het
Akap1	A	G	11: 88,722,585 (GRCm39)	L890P	probably damaging	Het
Akap13	T	A	7: 75,259,932 (GRCm39)	M49K	probably damaging	Het
Ankrd17	A	T	5: 90,413,295 (GRCm39)	N1206K	probably damaging	Het
Bbs7	G	A	3: 36,636,847 (GRCm39)	T480I	probably benign	Het
Bbs9	A	G	9: 22,723,627 (GRCm39)	E769G	probably damaging	Het
Bpgm	T	A	6: 34,464,860 (GRCm39)	S192R	probably damaging	Het
Brinp1	C	A	4: 68,711,178 (GRCm39)	K343N	probably benign	Het
Cabyr	T	G	18: 12,887,407 (GRCm39)	V185G	probably damaging	Het
Cadm1	C	A	9: 47,710,749 (GRCm39)	D217E	probably damaging	Het
Camk1g	T	A	1: 193,036,347 (GRCm39)	E171V	probably benign	Het
Casz1	T	A	4: 149,023,570 (GRCm39)	M825K	possibly damaging	Het
Ccdc27	A	G	4: 154,111,231 (GRCm39)	V627A	probably benign	Het
Ccdc40	T	G	11: 119,141,838 (GRCm39)	I808R	probably damaging	Het
Cdh23	G	A	10: 60,228,763 (GRCm39)	R1140C	probably damaging	Het
Celsr1	A	G	15: 85,916,905 (GRCm39)	V356A	probably damaging	Het
Cep126	T	A	9: 8,103,509 (GRCm39)	D167V	probably damaging	Het
Chmp4b	C	T	2: 154,533,201 (GRCm39)	T147I	probably benign	Het
Clstn3	A	T	6: 124,415,291 (GRCm39)	M728K	probably benign	Het
Col7a1	A	T	9: 108,809,279 (GRCm39)	E2618V	unknown	Het
Cplane1	T	A	15: 8,274,079 (GRCm39)		probably null	Het
Crls1	T	A	2: 132,706,087 (GRCm39)	Y170*	probably null	Het
Dennd2b	G	A	7: 109,169,223 (GRCm39)	T24M	probably damaging	Het
Epas1	T	G	17: 87,135,074 (GRCm39)	I569S	possibly damaging	Het
Fhl3	T	C	4: 124,599,520 (GRCm39)	Y32H	probably damaging	Het
Fibp	G	A	19: 5,514,453 (GRCm39)	G333D	probably benign	Het
Frmd4a	C	T	2: 4,534,650 (GRCm39)	T156I	probably damaging	Het
Gcn1	T	C	5: 115,730,435 (GRCm39)	L873P	possibly damaging	Het
Gpr141b	C	A	13: 19,913,646 (GRCm39)		noncoding transcript	Het
Hectd3	G	A	4: 116,859,470 (GRCm39)	R698H	possibly damaging	Het
Il17a	T	C	1: 20,803,977 (GRCm39)	V124A	probably damaging	Het
Kif14	A	T	1: 136,444,128 (GRCm39)	E1373D	probably benign	Het
Klra4	C	T	6: 130,030,016 (GRCm39)	V190M	possibly damaging	Het
Kmt2a	T	C	9: 44,731,944 (GRCm39)		probably benign	Het
L3mbtl1	GGCCG	GG	2: 162,809,256 (GRCm39)		probably benign	Het
Lamb2	T	C	9: 108,357,810 (GRCm39)	I111T	probably damaging	Het
Lrch3	A	T	16: 32,796,106 (GRCm39)	D204V	probably damaging	Het
Mansc1	C	A	6: 134,587,478 (GRCm39)	R233L	possibly damaging	Het
Ncoa3	T	A	2: 165,912,045 (GRCm39)		probably null	Het
Neu3	A	T	7: 99,462,525 (GRCm39)	C399*	probably null	Het
Or10ad1	T	G	15: 98,105,296 (GRCm39)	*323S	probably null	Het
Or52e8	G	A	7: 104,624,862 (GRCm39)	T114M	probably damaging	Het
Pcare	T	C	17: 72,058,748 (GRCm39)	R310G	probably damaging	Het
Pde5a	T	C	3: 122,634,693 (GRCm39)	F713L	probably benign	Het
Pdk1	T	A	2: 71,713,760 (GRCm39)		probably null	Het
Plin4	A	G	17: 56,413,356 (GRCm39)	V423A	possibly damaging	Het
Pstpip1	T	A	9: 56,033,214 (GRCm39)	Y249N	probably damaging	Het
Ptprf	A	T	4: 118,068,964 (GRCm39)	C1673S	probably benign	Het
Pum1	A	G	4: 130,457,677 (GRCm39)	T230A	probably benign	Het
Qsox1	A	T	1: 155,665,079 (GRCm39)	D287E	probably benign	Het
Rad51ap2	A	G	12: 11,508,387 (GRCm39)	N770D	probably damaging	Het
Rtp3	T	A	9: 110,815,760 (GRCm39)	I202F	probably benign	Het
Slc26a4	C	T	12: 31,585,248 (GRCm39)		probably null	Het
Spmip7	A	G	11: 11,438,513 (GRCm39)		probably benign	Het
Sptbn1	C	G	11: 30,086,136 (GRCm39)	V1191L	probably damaging	Het
Tead2	T	C	7: 44,882,323 (GRCm39)	Y121H	probably benign	Het
Thsd7b	T	C	1: 129,358,575 (GRCm39)	L3P	probably benign	Het
Trim24	T	C	6: 37,934,010 (GRCm39)	I651T	probably damaging	Het
Usp2	A	G	9: 44,003,630 (GRCm39)	I481V	probably benign	Het
Vps13d	C	A	4: 144,771,611 (GRCm39)	V4056F	possibly damaging	Het
Yeats2	A	G	16: 20,011,913 (GRCm39)	E496G	probably benign	Het
Zap70	A	G	1: 36,820,227 (GRCm39)	K503E	probably damaging	Het
Zbtb46	A	G	2: 181,053,713 (GRCm39)	L333P	probably benign	Het
Zfc3h1	A	T	10: 115,236,815 (GRCm39)	T430S	probably benign	Het
Zfp618	C	T	4: 63,036,803 (GRCm39)	R368*	probably null	Het

Other mutations in Mkrn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0558:Mkrn3	UTSW	7	62,068,612 (GRCm39)	missense	probably benign	0.29
R1885:Mkrn3	UTSW	7	62,068,486 (GRCm39)	missense	probably benign	0.09
R1886:Mkrn3	UTSW	7	62,068,486 (GRCm39)	missense	probably benign	0.09
R2904:Mkrn3	UTSW	7	62,068,207 (GRCm39)	missense	probably benign	0.38
R3117:Mkrn3	UTSW	7	62,068,962 (GRCm39)	small deletion	probably benign
R3118:Mkrn3	UTSW	7	62,068,962 (GRCm39)	small deletion	probably benign
R4593:Mkrn3	UTSW	7	62,068,552 (GRCm39)	nonsense	probably null
R4654:Mkrn3	UTSW	7	62,069,452 (GRCm39)	missense	probably damaging	1.00
R4735:Mkrn3	UTSW	7	62,069,452 (GRCm39)	missense	probably damaging	1.00
R5528:Mkrn3	UTSW	7	62,068,735 (GRCm39)	missense	possibly damaging	0.95
R5950:Mkrn3	UTSW	7	62,069,467 (GRCm39)	missense	probably damaging	1.00
R6120:Mkrn3	UTSW	7	62,069,282 (GRCm39)	missense	probably benign	0.00
R6618:Mkrn3	UTSW	7	62,068,781 (GRCm39)	missense	probably benign	0.25
R6951:Mkrn3	UTSW	7	62,068,881 (GRCm39)	missense	possibly damaging	0.68
R7009:Mkrn3	UTSW	7	62,069,366 (GRCm39)	missense	probably benign	0.05
R7227:Mkrn3	UTSW	7	62,069,415 (GRCm39)	missense	probably benign	0.03
R7228:Mkrn3	UTSW	7	62,069,415 (GRCm39)	missense	probably benign	0.03
R7286:Mkrn3	UTSW	7	62,068,675 (GRCm39)	missense	probably benign	0.15
R7339:Mkrn3	UTSW	7	62,069,530 (GRCm39)	missense	probably benign	0.22
R8268:Mkrn3	UTSW	7	62,068,270 (GRCm39)	missense	probably damaging	1.00
R8366:Mkrn3	UTSW	7	62,069,543 (GRCm39)	missense	probably benign	0.21
R9390:Mkrn3	UTSW	7	62,069,288 (GRCm39)	missense	probably benign	0.17
X0025:Mkrn3	UTSW	7	62,069,521 (GRCm39)	missense	probably damaging	1.00
Z1176:Mkrn3	UTSW	7	62,069,558 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AGAATTCTCCAAATGGGCAGTG -3'
(R):5'- GAAGCTCATAGAAGGGCCTG -3'

Sequencing Primer
(F):5'- TTCTCCAAATGGGCAGTGACCTAG -3'
(R):5'- CTCATAGAAGGGCCTGCGTTG -3'

Posted On

2017-02-28