Mutagenetix > Incidental Mutation

Incidental Mutation 'R7010:Marf1'

544981

Institutional Source

Beutler Lab

Gene Symbol

Marf1

Ensembl Gene

ENSMUSG00000060657

Gene Name

meiosis regulator and mRNA stability 1

Synonyms

4921513D23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R7010 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13927030-13977157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13954865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 884 (I884N)

Ref Sequence

ENSEMBL: ENSMUSP00000087770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090300] [ENSMUST00000229614]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000090300
AA Change: I884N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087770
Gene: ENSMUSG00000060657
AA Change: I884N

Domain	Start	End	E-Value	Type
low complexity region	116	127	N/A	INTRINSIC
low complexity region	290	305	N/A	INTRINSIC
Pfam:NYN	351	492	1.5e-21	PFAM
RRM	511	579	3.17e-1	SMART
low complexity region	599	610	N/A	INTRINSIC
RRM	790	864	4.47e-3	SMART
internal_repeat_2	871	914	1.57e-5	PROSPERO
low complexity region	944	960	N/A	INTRINSIC
Pfam:OST-HTH	1096	1167	1e-11	PFAM
low complexity region	1181	1186	N/A	INTRINSIC
Pfam:OST-HTH	1256	1328	1.2e-10	PFAM
Pfam:OST-HTH	1332	1404	2.4e-10	PFAM
Pfam:OST-HTH	1408	1480	6.8e-13	PFAM
Pfam:OST-HTH	1483	1555	3e-14	PFAM
low complexity region	1682	1701	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229614

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative peroxisomal protein that appears to be conserved across Euteleostomi. In humans, it may be autoantigenic. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit female infertility with abnormalities in oogenic processes including meiotic progression, genomic integrity and acquisition of developmental competence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AL592187.3	A	T	15: 77,486,797 (GRCm39)	Y58F	probably benign	Het
Ano10	T	C	9: 122,082,190 (GRCm39)	T494A	probably damaging	Het
Asah2	A	T	19: 32,031,954 (GRCm39)	F72I	probably benign	Het
Atat1	T	C	17: 36,219,522 (GRCm39)	D114G	probably damaging	Het
Atp6v1e2	C	T	17: 87,251,773 (GRCm39)	M208I	probably benign	Het
Bicd1	A	G	6: 149,396,113 (GRCm39)	Y161C	probably damaging	Het
Camk2g	T	C	14: 20,791,512 (GRCm39)	S410G	probably benign	Het
Car2	C	T	3: 14,965,113 (GRCm39)	P249L	possibly damaging	Het
Cdh23	T	G	10: 60,366,770 (GRCm39)	I237L	probably benign	Het
Dlat	T	A	9: 50,569,274 (GRCm39)	K176N	probably damaging	Het
Dnajc12	T	A	10: 63,233,059 (GRCm39)	C67S	probably benign	Het
Fat1	G	T	8: 45,406,386 (GRCm39)	E1046*	probably null	Het
Gmip	G	A	8: 70,264,050 (GRCm39)	A137T	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grk6	A	G	13: 55,598,113 (GRCm39)	I62V	possibly damaging	Het
Hook1	G	T	4: 95,903,048 (GRCm39)	L512F	probably damaging	Het
Ighe	T	C	12: 113,236,761 (GRCm39)	T36A		Het
Il17rc	A	G	6: 113,456,249 (GRCm39)	N338S	possibly damaging	Het
Itgb6	T	C	2: 60,480,322 (GRCm39)	Y338C	probably damaging	Het
Kcnd2	A	G	6: 21,216,707 (GRCm39)	Y137C	probably damaging	Het
L3mbtl3	T	A	10: 26,158,759 (GRCm39)		probably null	Het
Lcn3	T	C	2: 25,656,068 (GRCm39)	F41S	probably damaging	Het
Map3k8	T	C	18: 4,334,060 (GRCm39)	H344R	probably damaging	Het
Nalcn	G	A	14: 123,530,877 (GRCm39)	T1387I	probably damaging	Het
Nrros	T	C	16: 31,962,398 (GRCm39)	T540A	probably damaging	Het
Or5p63	A	T	7: 107,811,349 (GRCm39)	I129N	probably damaging	Het
Pank2	T	C	2: 131,122,293 (GRCm39)	Y273H	probably benign	Het
Pgrmc2	A	G	3: 41,037,068 (GRCm39)	V121A	probably damaging	Het
Phldb2	C	T	16: 45,571,868 (GRCm39)	V1175M	probably damaging	Het
Prss3b	A	C	6: 41,009,247 (GRCm39)	S196A	probably benign	Het
Ranbp2	A	G	10: 58,290,393 (GRCm39)		probably null	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Syt7	A	G	19: 10,395,354 (GRCm39)	T55A	probably benign	Het
Tfcp2l1	T	C	1: 118,581,457 (GRCm39)	S137P	probably damaging	Het
Tom1	T	A	8: 75,778,603 (GRCm39)	V140D	probably damaging	Het
Ttc23l	T	G	15: 10,515,224 (GRCm39)	I385L	probably damaging	Het
Vmn1r122	A	G	7: 20,867,896 (GRCm39)	V53A	probably damaging	Het
Vmn2r1	C	T	3: 64,012,146 (GRCm39)	T669I	probably benign	Het
Vmn2r86	A	G	10: 130,291,726 (GRCm39)	L13P	probably benign	Het
Zfp958	T	C	8: 4,678,377 (GRCm39)	I134T	probably benign	Het

Other mutations in Marf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Marf1	APN	16	13,933,606 (GRCm39)	missense	possibly damaging	0.49
IGL00933:Marf1	APN	16	13,935,221 (GRCm39)	missense	probably damaging	1.00
IGL01101:Marf1	APN	16	13,964,600 (GRCm39)	missense	possibly damaging	0.85
IGL02140:Marf1	APN	16	13,959,776 (GRCm39)	missense	probably damaging	0.99
IGL03196:Marf1	APN	16	13,958,123 (GRCm39)	missense	possibly damaging	0.64
PIT4283001:Marf1	UTSW	16	13,946,432 (GRCm39)	missense	probably benign	0.22
R0016:Marf1	UTSW	16	13,970,129 (GRCm39)	missense	probably damaging	0.99
R0016:Marf1	UTSW	16	13,970,129 (GRCm39)	missense	probably damaging	0.99
R0046:Marf1	UTSW	16	13,929,591 (GRCm39)	missense	possibly damaging	0.83
R0046:Marf1	UTSW	16	13,929,591 (GRCm39)	missense	possibly damaging	0.83
R0056:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0057:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0058:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0058:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0113:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0115:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0179:Marf1	UTSW	16	13,969,040 (GRCm39)	missense	probably damaging	1.00
R0238:Marf1	UTSW	16	13,969,147 (GRCm39)	missense	probably benign	0.00
R0238:Marf1	UTSW	16	13,969,147 (GRCm39)	missense	probably benign	0.00
R0294:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0295:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0316:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0318:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0375:Marf1	UTSW	16	13,969,184 (GRCm39)	splice site	probably benign
R0383:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0391:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0504:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0589:Marf1	UTSW	16	13,959,919 (GRCm39)	splice site	probably benign
R0603:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0610:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R1240:Marf1	UTSW	16	13,964,626 (GRCm39)	missense	possibly damaging	0.48
R1445:Marf1	UTSW	16	13,933,688 (GRCm39)	missense	probably benign
R1716:Marf1	UTSW	16	13,960,450 (GRCm39)	missense	possibly damaging	0.95
R1921:Marf1	UTSW	16	13,946,465 (GRCm39)	missense	possibly damaging	0.63
R2098:Marf1	UTSW	16	13,932,064 (GRCm39)	missense	probably benign	0.00
R2155:Marf1	UTSW	16	13,950,293 (GRCm39)	missense	probably damaging	0.99
R2177:Marf1	UTSW	16	13,970,471 (GRCm39)	missense	probably benign	0.01
R2195:Marf1	UTSW	16	13,929,563 (GRCm39)	missense	probably benign
R2410:Marf1	UTSW	16	13,933,691 (GRCm39)	missense	probably benign	0.02
R2999:Marf1	UTSW	16	13,960,505 (GRCm39)	missense	possibly damaging	0.60
R3000:Marf1	UTSW	16	13,960,505 (GRCm39)	missense	possibly damaging	0.60
R3147:Marf1	UTSW	16	13,943,843 (GRCm39)	missense	possibly damaging	0.64
R3148:Marf1	UTSW	16	13,943,843 (GRCm39)	missense	possibly damaging	0.64
R3430:Marf1	UTSW	16	13,958,041 (GRCm39)	unclassified	probably benign
R3821:Marf1	UTSW	16	13,960,418 (GRCm39)	missense	probably damaging	1.00
R4383:Marf1	UTSW	16	13,960,505 (GRCm39)	missense	possibly damaging	0.60
R4384:Marf1	UTSW	16	13,960,505 (GRCm39)	missense	possibly damaging	0.60
R4520:Marf1	UTSW	16	13,950,530 (GRCm39)	missense	probably damaging	0.98
R4554:Marf1	UTSW	16	13,971,841 (GRCm39)	start gained	probably benign
R4557:Marf1	UTSW	16	13,971,841 (GRCm39)	start gained	probably benign
R4768:Marf1	UTSW	16	13,949,461 (GRCm39)	missense	possibly damaging	0.93
R4784:Marf1	UTSW	16	13,970,321 (GRCm39)	missense	probably benign
R4857:Marf1	UTSW	16	13,946,475 (GRCm39)	nonsense	probably null
R4863:Marf1	UTSW	16	13,950,529 (GRCm39)	missense	possibly damaging	0.60
R4994:Marf1	UTSW	16	13,932,095 (GRCm39)	missense	probably benign
R5191:Marf1	UTSW	16	13,963,942 (GRCm39)	missense	probably damaging	1.00
R5503:Marf1	UTSW	16	13,970,095 (GRCm39)	missense	probably damaging	0.99
R5813:Marf1	UTSW	16	13,970,449 (GRCm39)	missense	probably benign	0.35
R5905:Marf1	UTSW	16	13,945,113 (GRCm39)	missense	probably damaging	0.99
R5960:Marf1	UTSW	16	13,970,281 (GRCm39)	missense	probably damaging	0.98
R6104:Marf1	UTSW	16	13,935,319 (GRCm39)	missense	probably damaging	0.99
R6387:Marf1	UTSW	16	13,959,504 (GRCm39)	makesense	probably null
R6533:Marf1	UTSW	16	13,933,663 (GRCm39)	missense	probably benign	0.16
R6608:Marf1	UTSW	16	13,950,578 (GRCm39)	missense	probably damaging	1.00
R6642:Marf1	UTSW	16	13,950,611 (GRCm39)	missense	probably benign	0.02
R6954:Marf1	UTSW	16	13,956,384 (GRCm39)	missense	probably damaging	1.00
R6994:Marf1	UTSW	16	13,946,721 (GRCm39)	missense	probably damaging	1.00
R7090:Marf1	UTSW	16	13,929,566 (GRCm39)	missense	possibly damaging	0.52
R7174:Marf1	UTSW	16	13,954,817 (GRCm39)	missense	probably damaging	1.00
R7221:Marf1	UTSW	16	13,960,349 (GRCm39)	missense	probably damaging	1.00
R7247:Marf1	UTSW	16	13,944,957 (GRCm39)	missense	probably damaging	1.00
R7557:Marf1	UTSW	16	13,950,560 (GRCm39)	missense	probably damaging	1.00
R7798:Marf1	UTSW	16	13,956,315 (GRCm39)	missense	probably benign	0.00
R7807:Marf1	UTSW	16	13,971,753 (GRCm39)	nonsense	probably null
R7855:Marf1	UTSW	16	13,932,065 (GRCm39)	missense	probably benign	0.27
R7867:Marf1	UTSW	16	13,946,470 (GRCm39)	missense	probably damaging	0.97
R7893:Marf1	UTSW	16	13,964,599 (GRCm39)	missense	probably damaging	1.00
R8291:Marf1	UTSW	16	13,950,432 (GRCm39)	critical splice donor site	probably null
R8746:Marf1	UTSW	16	13,935,168 (GRCm39)	missense	probably benign	0.18
R8842:Marf1	UTSW	16	13,935,169 (GRCm39)	missense	probably damaging	1.00
R9253:Marf1	UTSW	16	13,935,172 (GRCm39)	missense	probably damaging	1.00
R9350:Marf1	UTSW	16	13,963,789 (GRCm39)	missense	probably damaging	1.00
R9440:Marf1	UTSW	16	13,938,196 (GRCm39)	missense	probably benign	0.01
R9460:Marf1	UTSW	16	13,947,526 (GRCm39)	missense	probably damaging	1.00
R9658:Marf1	UTSW	16	13,958,087 (GRCm39)	missense	probably damaging	1.00
R9698:Marf1	UTSW	16	13,967,077 (GRCm39)	missense	probably benign	0.00
U24488:Marf1	UTSW	16	13,950,230 (GRCm39)	nonsense	probably null
X0025:Marf1	UTSW	16	13,932,142 (GRCm39)	missense	probably damaging	1.00
Z1176:Marf1	UTSW	16	13,933,641 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACAGCACAATCCGCTTTGTC -3'
(R):5'- CTGAGTCCTAGAGAATCCAGGG -3'

Sequencing Primer
(F):5'- CTGTCTTCCCTGGTGAGAAG -3'
(R):5'- CCAGGGAATGAATTGATCAGTTTTC -3'

Posted On

2019-05-13