Mutagenetix > Incidental Mutation

Incidental Mutation 'R0016:Marf1'

32725

Institutional Source

Beutler Lab

Gene Symbol

Marf1

Ensembl Gene

ENSMUSG00000060657

Gene Name

meiosis regulator and mRNA stability 1

Synonyms

4921513D23Rik

MMRRC Submission

038311-MU

Accession Numbers

Essential gene?

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

Stock #

R0016 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

13927030-13977157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 13970129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 197 (H197Y)

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: H197Y

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087770
Gene: ENSMUSG00000060657
AA Change: H197Y

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

Meta Mutation Damage Score

0.1866

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

100% (58/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,333,959 (GRCm39)	V1181G	probably benign	Het
Adamts12	A	T	15: 11,217,915 (GRCm39)	I291F	probably damaging	Het
Aspm	G	C	1: 139,407,282 (GRCm39)	Q2056H	probably benign	Het
C7	A	T	15: 5,076,406 (GRCm39)	V122E	probably benign	Het
Casp12	A	T	9: 5,352,844 (GRCm39)	Q152L	probably null	Het
Cdh16	T	A	8: 105,344,264 (GRCm39)	T92S	probably benign	Het
Chrd	G	C	16: 20,553,058 (GRCm39)	V162L	possibly damaging	Het
Cpne8	A	G	15: 90,385,608 (GRCm39)		probably benign	Het
Cspg4b	T	C	13: 113,502,639 (GRCm39)	Y115H	probably damaging	Het
Cyp2j7	T	A	4: 96,090,384 (GRCm39)	I347F	probably damaging	Het
Cyp4a10	A	T	4: 115,378,304 (GRCm39)	Q130L	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Dgkd	T	C	1: 87,845,674 (GRCm39)	S294P	probably benign	Het
Dnah8	A	G	17: 30,882,290 (GRCm39)	I621V	probably benign	Het
Dync2h1	A	G	9: 7,144,346 (GRCm39)		probably benign	Het
Echdc1	A	T	10: 29,198,417 (GRCm39)		probably benign	Het
Elovl3	T	A	19: 46,120,597 (GRCm39)	F30Y	probably damaging	Het
Fa2h	T	C	8: 112,120,146 (GRCm39)	Y80C	probably damaging	Het
Fgd3	C	T	13: 49,450,085 (GRCm39)	D55N	probably benign	Het
Fhod1	T	C	8: 106,058,287 (GRCm39)	E823G	possibly damaging	Het
Gapvd1	A	G	2: 34,589,925 (GRCm39)		probably benign	Het
Gm17067	A	T	7: 42,358,046 (GRCm39)	I152K	probably benign	Het
Gvin3	G	A	7: 106,202,453 (GRCm39)	L264F	probably benign	Het
Kif27	A	G	13: 58,502,528 (GRCm39)	V50A	probably damaging	Het
Kpna2	T	C	11: 106,881,912 (GRCm39)	T305A	probably benign	Het
Krtap22-2	A	G	16: 88,807,407 (GRCm39)		probably benign	Het
Lrp2bp	T	A	8: 46,465,068 (GRCm39)	F62L	probably damaging	Het
Mob3b	A	G	4: 35,083,947 (GRCm39)	F81L	probably benign	Het
Mon2	C	T	10: 122,871,451 (GRCm39)	V389M	probably damaging	Het
Myef2l	A	T	3: 10,154,379 (GRCm39)	M383L	possibly damaging	Het
Myh8	A	G	11: 67,189,351 (GRCm39)	K1176E	probably damaging	Het
Naf1	T	C	8: 67,341,707 (GRCm39)		probably benign	Het
Nckap1l	A	G	15: 103,384,063 (GRCm39)	T554A	probably benign	Het
Oog3	A	G	4: 143,884,641 (GRCm39)	Y432H	probably damaging	Het
Paxbp1	A	T	16: 90,832,924 (GRCm39)		probably benign	Het
Phf20	A	T	2: 156,109,114 (GRCm39)	K154*	probably null	Het
Pip4p1	C	T	14: 51,166,351 (GRCm39)	R213Q	probably damaging	Het
Plekhj1	T	C	10: 80,632,250 (GRCm39)	D74G	possibly damaging	Het
Plpp4	T	C	7: 128,925,148 (GRCm39)	C128R	probably damaging	Het
Rcan3	A	T	4: 135,145,689 (GRCm39)		probably null	Het
Sh3rf1	T	A	8: 61,827,172 (GRCm39)	M642K	probably benign	Het
Slc7a1	A	G	5: 148,271,393 (GRCm39)	V522A	probably benign	Het
Sorbs1	A	G	19: 40,303,182 (GRCm39)		probably benign	Het
Spry2	C	T	14: 106,130,731 (GRCm39)	V152M	probably benign	Het
Srgap2	A	G	1: 131,277,200 (GRCm39)	M349T	possibly damaging	Het
Stag3	A	G	5: 138,289,643 (GRCm39)	H271R	possibly damaging	Het
Stat4	T	C	1: 52,107,939 (GRCm39)	V136A	probably benign	Het
Stc2	A	T	11: 31,310,177 (GRCm39)	D286E	probably benign	Het
Stk31	T	C	6: 49,414,311 (GRCm39)	Y482H	probably damaging	Het
Tasor2	A	C	13: 3,635,170 (GRCm39)		probably null	Het
Ticrr	C	T	7: 79,343,540 (GRCm39)	P1135L	probably benign	Het
Trim27	A	T	13: 21,375,399 (GRCm39)	E310V	probably benign	Het
Uvrag	T	C	7: 98,641,188 (GRCm39)	K284R	probably benign	Het
Vmn1r78	A	C	7: 11,887,279 (GRCm39)	S297R	probably benign	Het
Xylt2	A	G	11: 94,560,466 (GRCm39)	S270P	probably damaging	Het
Zfhx3	T	C	8: 109,676,810 (GRCm39)	M2620T	probably benign	Het
Zkscan2	C	A	7: 123,099,219 (GRCm39)		probably benign	Het
Zwint	T	C	10: 72,493,030 (GRCm39)		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
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
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'- TGCACAAGTGAGGTGTAAGCTCTG -3'
(R):5'- TAAGCTGCTGTGCTCATTGCCC -3'

Sequencing Primer
(F):5'- TCTGAATGGGAAAGGCGCTC -3'
(R):5'- TCTGGGAGCTTGATTCACAC -3'

Posted On

2013-05-09