Mutagenetix > Incidental Mutation

Incidental Mutation 'R5950:Mkrn3'

472382

Institutional Source

Beutler Lab

Gene Symbol

Mkrn3

Ensembl Gene

ENSMUSG00000070527

Gene Name

makorin, ring finger protein, 3

Synonyms

D7H15S9-1, Zfp127

MMRRC Submission

044140-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5950 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62067341-62069887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62069467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 108 (E108G)

Ref Sequence

ENSEMBL: ENSMUSP00000091898 (fasta)

Gene Model

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

AlphaFold

Q60764

Predicted Effect

probably damaging
Transcript: ENSMUST00000094340
AA Change: E108G

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

SMART Domains

Protein: ENSMUSP00000091898
Gene: ENSMUSG00000070527
AA Change: E108G

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

Meta Mutation Damage Score

0.2444

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

93% (75/81)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	G	A	7: 119,981,879 (GRCm39)	G1065R	probably damaging	Het
Acox2	A	T	14: 8,255,793 (GRCm38)	Y113N	probably benign	Het
Arid4b	T	A	13: 14,365,849 (GRCm39)		probably benign	Het
Atf6	C	T	1: 170,662,448 (GRCm39)	G271R	probably damaging	Het
Bnip5	T	A	17: 29,124,729 (GRCm39)	Q256L	possibly damaging	Het
Cct8l1	C	A	5: 25,722,741 (GRCm39)	F485L	probably benign	Het
Cdk5r2	A	G	1: 74,894,561 (GRCm39)	E102G	probably damaging	Het
Celsr1	A	T	15: 85,916,701 (GRCm39)	V424E	probably damaging	Het
Ces1h	T	C	8: 94,089,587 (GRCm39)	T271A	probably benign	Het
Cfap44	T	C	16: 44,300,210 (GRCm39)	I1738T	probably damaging	Het
Cntnap3	G	A	13: 64,935,583 (GRCm39)	L427F	probably damaging	Het
Crybg3	T	C	16: 59,313,934 (GRCm39)		probably benign	Het
Dis3l2	A	G	1: 86,948,830 (GRCm39)	D589G	probably damaging	Het
Dlg1	A	G	16: 31,484,401 (GRCm39)	R10G	probably damaging	Het
Dnajc1	A	C	2: 18,311,752 (GRCm39)		probably benign	Het
Dpy19l2	T	A	9: 24,492,430 (GRCm39)	T723S	probably benign	Het
Dsg3	A	T	18: 20,671,586 (GRCm39)	N764Y	probably damaging	Het
Dst	G	T	1: 34,301,141 (GRCm39)	R3654L	probably damaging	Het
Dynlt5	T	G	4: 102,861,447 (GRCm39)	L147R	probably damaging	Het
Evl	C	T	12: 108,641,812 (GRCm39)	T198I	probably benign	Het
Hectd2	A	G	19: 36,574,639 (GRCm39)		probably benign	Het
Hsp90b1	A	G	10: 86,537,609 (GRCm39)	V232A	possibly damaging	Het
Igsf5	T	C	16: 96,174,072 (GRCm39)	V34A	probably benign	Het
Ikzf2	A	T	1: 69,722,403 (GRCm39)	N41K	probably damaging	Het
Kif6	G	T	17: 50,022,116 (GRCm39)	A339S	probably damaging	Het
Klhl1	T	A	14: 96,477,790 (GRCm39)	D426V	probably damaging	Het
Knop1	A	C	7: 118,452,557 (GRCm39)	V54G	probably damaging	Het
Lama4	T	A	10: 38,906,444 (GRCm39)	V270D	probably benign	Het
Lnx2	A	G	5: 146,961,160 (GRCm39)		probably null	Het
Lrp5	A	T	19: 3,652,333 (GRCm39)	V1179E	probably benign	Het
Lrpprc	T	G	17: 85,047,598 (GRCm39)	D878A	possibly damaging	Het
Lrrc14	A	T	15: 76,599,510 (GRCm39)		probably benign	Het
Ltbp1	A	T	17: 75,580,865 (GRCm39)	D660V	probably damaging	Het
Macf1	C	G	4: 123,333,229 (GRCm39)		probably null	Het
Map3k21	C	A	8: 126,668,499 (GRCm39)	T695K	possibly damaging	Het
Mcm3ap	T	A	10: 76,324,253 (GRCm39)	D895E	possibly damaging	Het
Mink1	T	A	11: 70,500,412 (GRCm39)	D779E	possibly damaging	Het
Mtcl3	T	C	10: 29,019,644 (GRCm39)		probably benign	Het
Nars1	A	G	18: 64,643,556 (GRCm39)	V141A	possibly damaging	Het
Or8g34	T	C	9: 39,373,633 (GRCm39)	V299A	probably benign	Het
Pard3b	T	A	1: 62,255,690 (GRCm39)	Y572N	probably benign	Het
Pcnx3	A	C	19: 5,717,186 (GRCm39)	M1599R	possibly damaging	Het
Pitx2	A	G	3: 129,012,169 (GRCm39)	S180G	probably damaging	Het
Pkd2l1	A	C	19: 44,140,529 (GRCm39)	V608G	probably benign	Het
Pkhd1l1	A	G	15: 44,396,361 (GRCm39)	D1961G	probably benign	Het
Pxylp1	T	C	9: 96,721,179 (GRCm39)	T109A	probably damaging	Het
Rai1	T	A	11: 60,078,419 (GRCm39)	C828S	probably damaging	Het
Ralgapa1	T	A	12: 55,785,050 (GRCm39)	T737S	possibly damaging	Het
Scn11a	A	G	9: 119,640,190 (GRCm39)	V235A	probably damaging	Het
Sfxn1	A	T	13: 54,245,306 (GRCm39)	T134S	probably benign	Het
Skint1	A	G	4: 111,876,532 (GRCm39)	Y151C	probably benign	Het
Slc11a1	G	T	1: 74,416,335 (GRCm39)	W54L	probably benign	Het
Slc49a3	A	T	5: 108,593,351 (GRCm39)	H162Q	probably damaging	Het
Synpo2l	T	A	14: 20,716,003 (GRCm39)	Q191L	probably benign	Het
Tank	A	G	2: 61,483,913 (GRCm39)		probably benign	Het
Terb1	A	T	8: 105,215,117 (GRCm39)		probably null	Het
Trdc	T	C	14: 54,381,768 (GRCm39)		probably benign	Het
Tsen34	A	G	7: 3,697,787 (GRCm39)	I63V	probably null	Het
Ust	T	C	10: 8,123,865 (GRCm39)	H257R	probably benign	Het
Vmn2r6	T	C	3: 64,472,652 (GRCm39)	Q23R	probably benign	Het
Wdr93	A	T	7: 79,423,179 (GRCm39)	H481L	probably damaging	Het
Xirp2	A	G	2: 67,341,664 (GRCm39)	T1302A	possibly damaging	Het
Zc3h6	C	A	2: 128,839,710 (GRCm39)	Y174*	probably null	Het
Zcchc7	T	G	4: 44,931,244 (GRCm39)	D144E	possibly damaging	Het
Zfp472	T	A	17: 33,196,481 (GRCm39)	H185Q	possibly damaging	Het
Zfp523	C	A	17: 28,421,532 (GRCm39)	P66H	probably benign	Het
Zfp712	A	T	13: 67,192,881 (GRCm39)	L57Q	probably damaging	Het
Zik1	G	A	7: 10,224,498 (GRCm39)	Q200*	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
R5932:Mkrn3	UTSW	7	62,068,655 (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'- CCAATCAGAGGCAAGGAGCTTG -3'
(R):5'- TCTACAGCTCCCATTGAGGC -3'

Sequencing Primer
(F):5'- CAAGGAGCTTGAGGATGCAGC -3'
(R):5'- TTCTGCGGGAGTCAGCTC -3'

Posted On

2017-03-31