Mutagenetix > Incidental Mutation

Incidental Mutation 'R7339:Mkrn3'

569706

Institutional Source

Beutler Lab

Gene Symbol

Mkrn3

Ensembl Gene

ENSMUSG00000070527

Gene Name

makorin, ring finger protein, 3

Synonyms

D7H15S9-1, Zfp127

MMRRC Submission

045429-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7339 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62067341-62069887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62069530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 87 (R87H)

Ref Sequence

ENSEMBL: ENSMUSP00000091898 (fasta)

Gene Model

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

AlphaFold

Q60764

Predicted Effect

probably benign
Transcript: ENSMUST00000094340
AA Change: R87H

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000091898
Gene: ENSMUSG00000070527
AA Change: R87H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,330,938 (GRCm39)	D1092G	probably benign	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Ahnak	A	T	19: 8,985,529 (GRCm39)	N2271I	possibly damaging	Het
Amz1	A	G	5: 140,727,306 (GRCm39)	S90G	probably benign	Het
Arhgap5	A	G	12: 52,564,481 (GRCm39)	E484G	possibly damaging	Het
Arid3c	A	G	4: 41,729,883 (GRCm39)		probably null	Het
Atp1a1	T	C	3: 101,497,188 (GRCm39)	I373V	probably benign	Het
Barhl1	T	C	2: 28,799,899 (GRCm39)	E242G	probably damaging	Het
Bltp2	G	A	11: 78,163,210 (GRCm39)		probably null	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Casz1	T	A	4: 149,036,202 (GRCm39)	V1488E	probably damaging	Het
Ccdc175	C	A	12: 72,182,815 (GRCm39)	Q401H	probably damaging	Het
Cfap36	T	C	11: 29,175,925 (GRCm39)	Y191C	probably benign	Het
Chmp2b	G	A	16: 65,342,232 (GRCm39)	Q119*	probably null	Het
Cps1	T	A	1: 67,236,174 (GRCm39)	I969N	possibly damaging	Het
Dennd5a	A	G	7: 109,500,366 (GRCm39)	F920L	probably damaging	Het
Dnah12	A	T	14: 26,594,277 (GRCm39)	T3410S	probably benign	Het
Fbxo42	T	G	4: 140,927,455 (GRCm39)	S578R	possibly damaging	Het
Fcgr1	C	T	3: 96,191,615 (GRCm39)	G398R	not run	Het
Foxa3	A	T	7: 18,748,794 (GRCm39)	Y111N	probably damaging	Het
Gabbr2	T	C	4: 46,846,340 (GRCm39)	K190E	probably benign	Het
Gbp10	T	C	5: 105,367,964 (GRCm39)	Y403C	possibly damaging	Het
Hsd3b5	A	G	3: 98,529,390 (GRCm39)	I80T	probably damaging	Het
Kri1	T	G	9: 21,197,883 (GRCm39)	Q89P		Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Metap1	T	C	3: 138,171,898 (GRCm39)		probably null	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myh6	T	C	14: 55,199,025 (GRCm39)		probably null	Het
Naip6	G	T	13: 100,452,527 (GRCm39)	P178Q	probably damaging	Het
Ncapg2	A	G	12: 116,378,454 (GRCm39)	E160G	probably damaging	Het
Nek6	G	A	2: 38,450,977 (GRCm39)	A127T	probably damaging	Het
Nell1	T	C	7: 49,929,297 (GRCm39)	V264A	probably benign	Het
Nlrp2	T	A	7: 5,330,627 (GRCm39)	I590F	possibly damaging	Het
Or13j1	C	T	4: 43,706,080 (GRCm39)	A163T	probably benign	Het
Or2y17	G	A	11: 49,231,875 (GRCm39)	R172Q	not run	Het
Or4f57	A	T	2: 111,790,956 (GRCm39)	M154K	probably benign	Het
Or4f6	A	G	2: 111,838,820 (GRCm39)	L237P	probably damaging	Het
Or52n4b	A	C	7: 108,144,107 (GRCm39)	D125A	probably damaging	Het
Otop3	T	A	11: 115,237,204 (GRCm39)	L556Q	probably damaging	Het
Padi1	T	C	4: 140,556,545 (GRCm39)	D190G	probably null	Het
Pald1	T	C	10: 61,159,110 (GRCm39)	S774G	possibly damaging	Het
Pde10a	C	T	17: 8,975,860 (GRCm39)	T55I	probably benign	Het
Pla2g4d	T	C	2: 120,109,459 (GRCm39)	M197V	probably benign	Het
Prom1	C	A	5: 44,258,995 (GRCm39)		probably benign	Het
Ptdss1	A	G	13: 67,111,426 (GRCm39)	H164R	possibly damaging	Het
Rrh	A	T	3: 129,604,262 (GRCm39)	I313N	probably damaging	Het
Slc35b4	A	G	6: 34,144,591 (GRCm39)	I88T	probably damaging	Het
Slc38a11	C	T	2: 65,156,914 (GRCm39)	V353I	probably benign	Het
Spata31e3	A	T	13: 50,401,204 (GRCm39)	I374N	possibly damaging	Het
Spdef	T	A	17: 27,939,219 (GRCm39)	E42D	probably benign	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tmx1	A	G	12: 70,505,624 (GRCm39)	D129G	probably benign	Het
Trav13n-4	A	T	14: 53,601,435 (GRCm39)	Y68F	probably benign	Het
Trp53	T	C	11: 69,480,015 (GRCm39)	S238P	probably damaging	Het
Trp53bp1	T	C	2: 121,066,950 (GRCm39)	D592G	probably benign	Het
Ttll5	T	C	12: 85,904,238 (GRCm39)		probably null	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn2r43	A	T	7: 8,258,306 (GRCm39)	Y302*	probably null	Het
Vps13d	C	T	4: 144,847,938 (GRCm39)	V2478I		Het
Vps35l	A	T	7: 118,409,194 (GRCm39)	I612F	probably damaging	Het
Wsb1	A	G	11: 79,131,184 (GRCm39)	V404A	probably damaging	Het
Zfc3h1	A	G	10: 115,239,205 (GRCm39)	D539G	probably damaging	Het
Zfp318	T	C	17: 46,722,173 (GRCm39)	V1392A	probably damaging	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
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
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'- TTTCAGCAGCCGAGCCAATC -3'
(R):5'- GAGTCTACAGCTCCCATTGAGG -3'

Sequencing Primer
(F):5'- CAGCCGAGCCAATCAGAGG -3'
(R):5'- AGGGTGTGTCTGTTCCCCC -3'

Posted On

2019-09-13