Mutagenetix > Incidental Mutations

Incidental Mutation 'R5528:Mkrn3'

433528

Institutional Source

Beutler Lab

Gene Symbol

Mkrn3

Ensembl Gene

ENSMUSG00000070527

Gene Name

makorin, ring finger protein, 3

Synonyms

Zfp127, D7H15S9-1

MMRRC Submission

043086-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5528 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62417593-62420139 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62418987 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 352 (E352G)

Ref Sequence

ENSEMBL: ENSMUSP00000091898 (fasta)

Gene Model

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

AlphaFold

Q60764

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094340
AA Change: E352G

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091898
Gene: ENSMUSG00000070527
AA Change: E352G

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: 98.6%
3x: 97.4%
10x: 95.4%
20x: 91.4%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,066,499	L483P	probably benign	Het
1700025F22Rik	T	C	19: 11,141,635	S37G	possibly damaging	Het
3110043O21Rik	T	C	4: 35,213,556	D198G	probably benign	Het
4930519G04Rik	T	G	5: 114,874,354		probably null	Het
Ablim2	C	T	5: 35,856,166	Q148*	probably null	Het
Ap3s2	A	T	7: 79,880,486	*194R	probably null	Het
Arpp21	C	T	9: 112,149,353	A235T	probably benign	Het
Ccdc33	T	C	9: 58,028,795	D939G	probably benign	Het
Celsr2	A	T	3: 108,413,294	I734N	probably damaging	Het
Clcn1	C	A	6: 42,300,341	N455K	probably benign	Het
Cpne8	C	T	15: 90,619,690	V91I	possibly damaging	Het
Ddx1	A	G	12: 13,229,294	V448A	probably damaging	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Eif2a	G	T	3: 58,548,512	D311Y	probably damaging	Het
Eif2ak4	G	A	2: 118,427,938	E512K	probably damaging	Het
Esp15	A	T	17: 39,644,749	Y69F	probably benign	Het
Fam102a	G	A	2: 32,566,327	A334T	probably damaging	Het
Gm5689	A	G	18: 42,173,662		probably null	Het
Gucy1a1	A	T	3: 82,109,073	Y203N	probably damaging	Het
Hook3	T	C	8: 26,072,293	Q248R	probably damaging	Het
Ifit2	T	A	19: 34,573,537	V159E	possibly damaging	Het
Il17rd	T	C	14: 27,088,067	V20A	possibly damaging	Het
Kcnq3	T	A	15: 66,025,178	D291V	probably damaging	Het
Klf11	A	T	12: 24,654,930	M111L	probably benign	Het
Lama5	T	A	2: 180,194,563	H1165L	probably benign	Het
Lmo7	A	G	14: 101,902,086	N702S	probably damaging	Het
Lta4h	T	C	10: 93,471,874	V323A	probably damaging	Het
Mtf2	T	A	5: 108,094,157	L277Q	probably damaging	Het
Myo9b	A	G	8: 71,323,274	N370D	probably benign	Het
Nlrp4e	A	C	7: 23,336,891	K723T	probably benign	Het
Nsun3	A	G	16: 62,735,326	V279A	possibly damaging	Het
Pde6b	A	G	5: 108,423,558	D459G	probably benign	Het
Phgdh	T	C	3: 98,328,339	I121V	probably benign	Het
Pik3r5	T	C	11: 68,495,977	C811R	probably damaging	Het
Spaca6	A	C	17: 17,831,082	I27L	probably benign	Het
Trmt1l	G	A	1: 151,454,995	V588I	probably benign	Het
Tshr	A	G	12: 91,537,193	N302D	probably damaging	Het
Vmn2r23	A	G	6: 123,713,002	D279G	probably damaging	Het
Wnt3a	T	C	11: 59,275,280	N58S	probably damaging	Het
Zkscan8	A	G	13: 21,520,725	V276A	probably damaging	Het

Other mutations in Mkrn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0558:Mkrn3	UTSW	7	62418864	missense	probably benign	0.29
R1885:Mkrn3	UTSW	7	62418738	missense	probably benign	0.09
R1886:Mkrn3	UTSW	7	62418738	missense	probably benign	0.09
R2904:Mkrn3	UTSW	7	62418459	missense	probably benign	0.38
R3117:Mkrn3	UTSW	7	62419214	small deletion	probably benign
R3118:Mkrn3	UTSW	7	62419214	small deletion	probably benign
R4593:Mkrn3	UTSW	7	62418804	nonsense	probably null
R4654:Mkrn3	UTSW	7	62419704	missense	probably damaging	1.00
R4735:Mkrn3	UTSW	7	62419704	missense	probably damaging	1.00
R5932:Mkrn3	UTSW	7	62418907	missense	probably damaging	1.00
R5950:Mkrn3	UTSW	7	62419719	missense	probably damaging	1.00
R6120:Mkrn3	UTSW	7	62419534	missense	probably benign	0.00
R6618:Mkrn3	UTSW	7	62419033	missense	probably benign	0.25
R6951:Mkrn3	UTSW	7	62419133	missense	possibly damaging	0.68
R7009:Mkrn3	UTSW	7	62419618	missense	probably benign	0.05
R7227:Mkrn3	UTSW	7	62419667	missense	probably benign	0.03
R7228:Mkrn3	UTSW	7	62419667	missense	probably benign	0.03
R7286:Mkrn3	UTSW	7	62418927	missense	probably benign	0.15
R7339:Mkrn3	UTSW	7	62419782	missense	probably benign	0.22
R8268:Mkrn3	UTSW	7	62418522	missense	probably damaging	1.00
R8366:Mkrn3	UTSW	7	62419795	missense	probably benign	0.21
R9390:Mkrn3	UTSW	7	62419540	missense	probably benign	0.17
X0025:Mkrn3	UTSW	7	62419773	missense	probably damaging	1.00
Z1176:Mkrn3	UTSW	7	62419810	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TCACTAGGAATGACAAAGCCAG -3'
(R):5'- TGTTCCTGGACAGCCTTACC -3'

Sequencing Primer
(F):5'- AGAGGAGACCCTGCACTGTG -3'
(R):5'- TGCCAGTGCCAATGCCAATG -3'

Posted On

2016-10-06