Mutagenetix > Incidental Mutation

Incidental Mutation 'R0318:Marf1'

65266

Institutional Source

Beutler Lab

Gene Symbol

Marf1

Ensembl Gene

ENSMUSG00000060657

Gene Name

meiosis regulator and mRNA stability 1

Synonyms

4921513D23Rik

MMRRC Submission

038528-MU

Accession Numbers

Essential gene?

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

Stock #

R0318 (G1)

Quality Score

193

Status

Not validated

Chromosome

Chromosomal Location

13927030-13977157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13960398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 549 (A549T)

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: A549T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087770
Gene: ENSMUSG00000060657
AA Change: A549T

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 damaging
Transcript: ENSMUST00000229614
AA Change: A370T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231032

Meta Mutation Damage Score

0.5302

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.4%
20x: 86.5%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,892,370 (GRCm39)	L79Q	probably damaging	Het
Add1	T	C	5: 34,782,684 (GRCm39)	V130A	probably damaging	Het
Ankrd23	G	T	1: 36,573,153 (GRCm39)	T73K	probably benign	Het
Blk	A	G	14: 63,611,646 (GRCm39)	Y430H	probably damaging	Het
C3	C	T	17: 57,531,709 (GRCm39)	V272M	probably damaging	Het
Cerk	C	T	15: 86,035,766 (GRCm39)	A254T	possibly damaging	Het
Ces2a	G	A	8: 105,467,456 (GRCm39)	A494T	probably damaging	Het
Cfap46	T	C	7: 139,234,482 (GRCm39)	Y258C	probably damaging	Het
Chaf1a	C	T	17: 56,369,227 (GRCm39)	T486I	possibly damaging	Het
Colec12	A	G	18: 9,848,446 (GRCm39)	N208S	possibly damaging	Het
Coro7	T	A	16: 4,493,671 (GRCm39)	H63L	probably benign	Het
Cps1	T	A	1: 67,216,173 (GRCm39)	W833R	probably damaging	Het
Csmd3	A	T	15: 47,522,549 (GRCm39)	W2707R	probably damaging	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Ddx50	A	T	10: 62,478,616 (GRCm39)	I190K	probably damaging	Het
Dnmt3l	G	A	10: 77,890,889 (GRCm39)	V264M	probably damaging	Het
Dnpep	A	G	1: 75,293,270 (GRCm39)	V33A	probably damaging	Het
Fam163a	A	G	1: 155,955,715 (GRCm39)	C26R	probably damaging	Het
Fam83h	A	G	15: 75,875,478 (GRCm39)	S620P	probably benign	Het
Fcna	A	G	2: 25,515,071 (GRCm39)	S263P	probably benign	Het
Fnip2	A	T	3: 79,419,685 (GRCm39)	S165R	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,410 (GRCm39)	T244A	probably benign	Het
Gpr152	T	C	19: 4,193,541 (GRCm39)	S361P	possibly damaging	Het
Grm5	A	T	7: 87,252,175 (GRCm39)	I142L	probably damaging	Het
Gucy2g	A	G	19: 55,226,230 (GRCm39)	S229P	probably benign	Het
Htr7	C	T	19: 35,946,886 (GRCm39)	G376D	probably damaging	Het
Irgc	T	C	7: 24,131,896 (GRCm39)	D307G	probably benign	Het
Irs1	A	T	1: 82,266,381 (GRCm39)	S612T	probably benign	Het
Maml2	C	T	9: 13,531,890 (GRCm39)	T368I	probably damaging	Het
Mapkapk2	A	G	1: 131,025,072 (GRCm39)	V64A	probably damaging	Het
Nptx1	C	T	11: 119,433,367 (GRCm39)	E411K	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5ak25	C	A	2: 85,268,581 (GRCm39)	R307M	possibly damaging	Het
Pcgf5	A	T	19: 36,389,590 (GRCm39)	K22N	possibly damaging	Het
Psmd9	C	A	5: 123,372,712 (GRCm39)	A65E	possibly damaging	Het
Sh3bp1	A	G	15: 78,795,907 (GRCm39)	T679A	probably damaging	Het
Sipa1l2	G	A	8: 126,174,436 (GRCm39)	P1281S	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc25a24	A	G	3: 109,064,316 (GRCm39)	M222V	probably benign	Het
Smg9	T	C	7: 24,120,313 (GRCm39)	F429S	possibly damaging	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Sorl1	T	A	9: 41,993,250 (GRCm39)	Y258F	probably damaging	Het
Srp72	C	T	5: 77,132,047 (GRCm39)	T242I	probably benign	Het
Stc1	A	T	14: 69,275,867 (GRCm39)	Q220L	probably damaging	Het
Tas2r122	T	C	6: 132,688,795 (GRCm39)	T33A	possibly damaging	Het
Tbc1d10b	A	G	7: 126,798,206 (GRCm39)	L645P	probably damaging	Het
Thoc2l	T	C	5: 104,665,619 (GRCm39)	F47S	probably benign	Het
Timd4	T	A	11: 46,727,898 (GRCm39)	H272Q	probably benign	Het
Ttll5	T	G	12: 85,923,368 (GRCm39)		probably null	Het
Veph1	G	T	3: 65,964,680 (GRCm39)	S783Y	probably damaging	Het
Vmn1r230	T	C	17: 21,067,078 (GRCm39)	L89S	possibly damaging	Het
Xcr1	A	G	9: 123,685,219 (GRCm39)	V165A	possibly damaging	Het
Zfp286	T	C	11: 62,675,788 (GRCm39)	D58G	probably damaging	Het
Zfyve26	C	T	12: 79,323,055 (GRCm39)	R897H	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
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
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

Posted On

2013-08-08