Mutagenetix > Incidental Mutation

Incidental Mutation 'R6387:Marf1'

514679

Institutional Source

Beutler Lab

Gene Symbol

Marf1

Ensembl Gene

ENSMUSG00000060657

Gene Name

meiosis regulator and mRNA stability 1

Synonyms

4921513D23Rik

MMRRC Submission

044536-MU

Accession Numbers

Essential gene?

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

Stock #

R6387 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13927030-13977157 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 13959504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Leucine at position 577 (*577L)

Ref Sequence

ENSEMBL: ENSMUSP00000154869 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000090300

SMART Domains

Protein: ENSMUSP00000087770
Gene: ENSMUSG00000060657

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 null
Transcript: ENSMUST00000229614
AA Change: *577L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231032

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (42/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,884,881 (GRCm39)	K326E	possibly damaging	Het
Acot1	A	G	12: 84,056,627 (GRCm39)	D115G	probably benign	Het
Adm	T	C	7: 110,227,502 (GRCm39)	I6T	possibly damaging	Het
Ahi1	A	G	10: 20,844,942 (GRCm39)	Y349C	probably damaging	Het
Aldh1a1	A	G	19: 20,595,323 (GRCm39)	E84G	probably damaging	Het
Ankrd31	A	G	13: 96,967,081 (GRCm39)	D520G	probably damaging	Het
Ano4	A	T	10: 88,807,267 (GRCm39)	Y736*	probably null	Het
Atp6v1a	A	G	16: 43,907,806 (GRCm39)	F612S	possibly damaging	Het
Bltp3b	C	T	10: 89,638,919 (GRCm39)	Q442*	probably null	Het
Calcb	G	A	7: 114,319,025 (GRCm39)	V17I	possibly damaging	Het
Cfap70	C	T	14: 20,498,643 (GRCm39)	V15M	probably damaging	Het
Chad	C	T	11: 94,458,663 (GRCm39)	H271Y	possibly damaging	Het
Csgalnact1	C	T	8: 68,811,365 (GRCm39)	G435D	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Eprs1	T	A	1: 185,119,281 (GRCm39)	M487K	possibly damaging	Het
Fat4	A	G	3: 39,037,934 (GRCm39)	E3862G	probably damaging	Het
Gdf10	T	A	14: 33,645,961 (GRCm39)	S37T	probably benign	Het
Hhatl	T	A	9: 121,619,467 (GRCm39)	H39L	probably benign	Het
Icam4	A	C	9: 20,941,505 (GRCm39)	S215R	possibly damaging	Het
Ighv1-18	T	C	12: 114,646,280 (GRCm39)	E108G	probably damaging	Het
Iqcd	T	C	5: 120,744,920 (GRCm39)	I416T	probably benign	Het
Mark2	A	G	19: 7,263,267 (GRCm39)	F167L	probably damaging	Het
Mpdz	T	C	4: 81,299,946 (GRCm39)	T351A	possibly damaging	Het
Mrps27	A	G	13: 99,536,825 (GRCm39)	I113V	possibly damaging	Het
Numbl	C	T	7: 26,976,115 (GRCm39)	T265I	probably damaging	Het
Obsl1	C	T	1: 75,468,006 (GRCm39)	A1296T	probably benign	Het
Or10g9	A	G	9: 39,912,148 (GRCm39)	I125T	probably damaging	Het
Pcdhb21	A	G	18: 37,648,385 (GRCm39)	I505V	probably benign	Het
Pfas	A	G	11: 68,891,291 (GRCm39)	F269L	probably damaging	Het
Prkdc	G	A	16: 15,516,679 (GRCm39)	V1018I	probably benign	Het
Prl4a1	T	A	13: 28,202,482 (GRCm39)	V19E	possibly damaging	Het
Ptpn22	A	G	3: 103,792,702 (GRCm39)	D327G	probably benign	Het
Smad3	G	T	9: 63,562,047 (GRCm39)	D310E	probably benign	Het
Sparcl1	T	A	5: 104,232,926 (GRCm39)	D625V	probably damaging	Het
Spta1	G	A	1: 174,058,899 (GRCm39)	A1945T	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Sympk	T	C	7: 18,786,423 (GRCm39)	Y1009H	possibly damaging	Het
Trio	A	G	15: 27,752,825 (GRCm39)	F1026L	probably damaging	Het
Unc5d	T	A	8: 29,365,554 (GRCm39)	K144*	probably null	Het
Unk	A	G	11: 115,945,766 (GRCm39)	N479S	possibly damaging	Het
Zfp710	T	C	7: 79,735,775 (GRCm39)	I514T	probably damaging	Het
Zfp993	A	G	4: 146,741,975 (GRCm39)	T100A	probably damaging	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
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
R7010:Marf1	UTSW	16	13,954,865 (GRCm39)	missense	probably damaging	0.99
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'- AACATTCTTCCCTGTTGGCG -3'
(R):5'- GTTGCTTCTCTGAAATTATGGAGACC -3'

Sequencing Primer
(F):5'- TGGCGTGGACTTACCTAGC -3'
(R):5'- ATGGAGACCTGTGACATTACTCTC -3'

Posted On

2018-05-04