Mutagenetix > Incidental Mutation

Incidental Mutation 'R4384:Marf1'

326134

Institutional Source

Beutler Lab

Gene Symbol

Marf1

Ensembl Gene

ENSMUSG00000060657

Gene Name

meiosis regulator and mRNA stability 1

Synonyms

4921513D23Rik

MMRRC Submission

042002-MU

Accession Numbers

Essential gene?

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

Stock #

R4384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13927030-13977157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13960505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 513 (Y513F)

Ref Sequence

ENSEMBL: ENSMUSP00000087770 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090300
AA Change: Y513F

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000087770
Gene: ENSMUSG00000060657
AA Change: Y513F

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
AA Change: Y334F

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231032

Meta Mutation Damage Score

0.0659

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

97% (56/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,792,805 (GRCm39)	V27E	possibly damaging	Het
Adam23	T	C	1: 63,605,787 (GRCm39)	Y624H	probably damaging	Het
Arhgef10	T	A	8: 14,980,157 (GRCm39)	C132*	probably null	Het
Boc	A	T	16: 44,311,545 (GRCm39)	L726H	probably damaging	Het
Brip1	A	T	11: 86,039,255 (GRCm39)	D426E	possibly damaging	Het
Cadps2	T	A	6: 23,412,987 (GRCm39)	Q654L	probably benign	Het
Calr3	T	A	8: 73,182,008 (GRCm39)	D120V	probably damaging	Het
Cntnap3	A	G	13: 64,896,274 (GRCm39)	Y1067H	probably damaging	Het
Csnk1g1	T	C	9: 65,927,190 (GRCm39)	V119A	probably damaging	Het
Ddias	G	A	7: 92,507,431 (GRCm39)	T828I	probably damaging	Het
Dennd4c	A	G	4: 86,729,687 (GRCm39)	Y763C	probably damaging	Het
Dscam	T	A	16: 96,510,416 (GRCm39)	I948F	probably damaging	Het
E030018B13Rik	A	G	7: 63,569,141 (GRCm39)		probably benign	Het
E2f8	G	A	7: 48,516,847 (GRCm39)	T844I	possibly damaging	Het
Eps8	T	A	6: 137,476,590 (GRCm39)	H603L	probably benign	Het
Esrrg	G	A	1: 187,775,908 (GRCm39)	C122Y	probably damaging	Het
Frmd4a	C	T	2: 4,599,374 (GRCm39)	R467*	probably null	Het
Gad2	G	A	2: 22,575,422 (GRCm39)	V509I	probably benign	Het
Gpat4	A	G	8: 23,664,602 (GRCm39)	I446T	probably benign	Het
Klhl12	T	G	1: 134,415,392 (GRCm39)	D435E	probably damaging	Het
Luc7l	T	C	17: 26,498,936 (GRCm39)		probably benign	Het
Marchf2	C	A	17: 33,915,167 (GRCm39)	M142I	probably benign	Het
Mdm2	T	C	10: 117,532,344 (GRCm39)	D114G	possibly damaging	Het
Med1	G	A	11: 98,043,688 (GRCm39)		probably benign	Het
Meikin	C	T	11: 54,308,613 (GRCm39)	Q404*	probably null	Het
Myh9	A	T	15: 77,675,912 (GRCm39)		probably benign	Het
Mylip	T	C	13: 45,543,434 (GRCm39)	M1T	probably null	Het
Ncapg2	T	C	12: 116,403,497 (GRCm39)		probably null	Het
Nmd3	T	C	3: 69,631,731 (GRCm39)		probably benign	Het
Nwd2	T	A	5: 63,963,914 (GRCm39)	L1166H	probably damaging	Het
Or1j13	A	G	2: 36,370,010 (GRCm39)	L44P	probably damaging	Het
Or8b48	T	C	9: 38,493,349 (GRCm39)	Y259H	probably damaging	Het
Rubcn	A	G	16: 32,677,272 (GRCm39)	I71T	probably damaging	Het
Rwdd3	T	C	3: 120,952,406 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,620,119 (GRCm39)	E3826G	probably damaging	Het
Sdad1	T	C	5: 92,446,116 (GRCm39)	Q273R	probably benign	Het
Sdha	A	T	13: 74,475,104 (GRCm39)	I579K	possibly damaging	Het
Sema4d	A	G	13: 51,856,919 (GRCm39)	L771P	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc6a11	A	G	6: 114,224,688 (GRCm39)	E624G	possibly damaging	Het
Tada3	G	T	6: 113,347,340 (GRCm39)	R117S	probably damaging	Het
Tm9sf3	T	C	19: 41,236,372 (GRCm39)	M130V	probably damaging	Het
Trpc1	C	A	9: 95,614,161 (GRCm39)	M34I	probably benign	Het
Trpc4ap	A	G	2: 155,482,427 (GRCm39)	V521A	possibly damaging	Het
Trpm2	A	G	10: 77,753,559 (GRCm39)	V1315A	probably benign	Het
Tvp23a	A	G	16: 10,246,546 (GRCm39)	S80P	probably benign	Het
Usp54	A	T	14: 20,600,153 (GRCm39)		probably null	Het
Vmn2r27	A	G	6: 124,201,115 (GRCm39)	Y281H	probably benign	Het
Vwf	T	A	6: 125,632,079 (GRCm39)	I37N	unknown	Het
Zfp329	G	A	7: 12,545,584 (GRCm39)		probably benign	Het
Zfp616	G	T	11: 73,974,005 (GRCm39)	L91F	possibly 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
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
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'- CTATGTTTTGGAGTAAAGGACACG -3'
(R):5'- GCTGTGCCTAGCCGATTATTG -3'

Sequencing Primer
(F):5'- CGATGATCCTGTTGCCAAAG -3'
(R):5'- CCTAGCCGATTATTGGAAGCAGC -3'

Posted On

2015-07-06