Mutagenetix > Incidental Mutation

Incidental Mutation 'R3430:Marf1'

268093

Institutional Source

Beutler Lab

Gene Symbol

Marf1

Ensembl Gene

ENSMUSG00000060657

Gene Name

meiosis regulator and mRNA stability 1

Synonyms

4921513D23Rik

MMRRC Submission

040648-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R3430 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14109173-14163351 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 14140177 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154869 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000229614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231032

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (67/67)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F07Rik	T	C	2: 173,528,273	Y114H	possibly damaging	Het
Afap1l2	C	A	19: 56,915,806	R683L	probably damaging	Het
Ahnak	A	G	19: 9,006,958	I1869V	probably benign	Het
Aoc1	A	T	6: 48,906,076	E295D	probably benign	Het
Arhgef19	T	C	4: 141,256,800	L777P	probably benign	Het
Atf7ip	A	G	6: 136,575,324		probably benign	Het
Bhmt	T	C	13: 93,627,347	E62G	probably damaging	Het
Bpifa6	A	G	2: 153,989,251	I246V	probably benign	Het
Btbd10	T	A	7: 113,351,809	R25*	probably null	Het
Ccdc88a	T	A	11: 29,448,033	D255E	probably damaging	Het
Chd7	T	C	4: 8,844,517	V1542A	probably damaging	Het
Col12a1	T	A	9: 79,680,311	T1183S	probably benign	Het
Col20a1	T	A	2: 181,013,285	L1145*	probably null	Het
Dchs1	A	G	7: 105,756,504	V2391A	possibly damaging	Het
Dgat2	A	G	7: 99,157,093	V299A	probably benign	Het
Dmxl2	T	A	9: 54,477,461	N94I	possibly damaging	Het
Dnah6	G	A	6: 73,121,814	S2034L	possibly damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Filip1	A	T	9: 79,853,670	M194K	probably damaging	Het
Fut1	T	C	7: 45,619,374	F196L	probably damaging	Het
Gm10323	A	C	13: 66,854,824	W17G	probably damaging	Het
Grin3a	C	A	4: 49,792,534	V400L	probably benign	Het
Htr3a	T	C	9: 48,907,388	N82S	probably benign	Het
Il23r	A	C	6: 67,452,474	S295A	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lama5	T	C	2: 180,196,317	K869E	probably benign	Het
Lce1d	A	T	3: 92,685,730		probably benign	Het
Lkaaear1	T	C	2: 181,697,531	D42G	probably benign	Het
Mapk8ip2	A	G	15: 89,457,282	E232G	possibly damaging	Het
Mpeg1	A	T	19: 12,463,128	H650L	probably benign	Het
Nfib	T	C	4: 82,498,295	I168V	possibly damaging	Het
Olfr1209	C	T	2: 88,909,466	R309Q	probably benign	Het
Olfr1507	A	G	14: 52,490,425	F180L	possibly damaging	Het
Olfr1535	A	T	13: 21,555,805	C72*	probably null	Het
Olfr389	A	T	11: 73,776,539	S263T	probably damaging	Het
Olfr918	A	T	9: 38,673,139	F102I	probably damaging	Het
Otx2	T	A	14: 48,658,797	K260M	probably damaging	Het
P2ry12	C	T	3: 59,218,027	D76N	probably damaging	Het
Parp3	A	T	9: 106,474,723	I150K	probably damaging	Het
Prex2	T	G	1: 11,149,854	I683S	possibly damaging	Het
Prss34	A	T	17: 25,299,104	K86I	probably benign	Het
Ptpn20	T	A	14: 33,614,528	V108D	possibly damaging	Het
Rlf	A	G	4: 121,150,532	L417P	probably benign	Het
Rsad2	T	C	12: 26,456,419	M1V	probably null	Het
S1pr5	A	G	9: 21,245,082	V16A	probably benign	Het
Scn7a	AT	ATT	2: 66,700,895		probably null	Het
Serpinb3b	A	T	1: 107,154,695	S280T	probably benign	Het
Sh3d21	A	G	4: 126,162,832	S66P	probably benign	Het
Sh3yl1	T	C	12: 30,959,842	S253P	probably benign	Het
Smarca2	A	G	19: 26,691,349	E916G	probably damaging	Het
Sptbn1	A	G	11: 30,219,686	I14T	possibly damaging	Het
Supt16	A	T	14: 52,175,359	M559K	probably benign	Het
Tas1r2	A	G	4: 139,669,575	T742A	probably damaging	Het
Tbc1d5	T	C	17: 50,800,128	K467E	probably damaging	Het
Tet3	A	G	6: 83,403,419	V589A	probably damaging	Het
Tmem131	A	G	1: 36,808,821		probably benign	Het
Tmtc3	A	G	10: 100,447,575	F706S	probably benign	Het
Tsku	T	C	7: 98,352,539	N195S	probably damaging	Het
Vmn2r85	T	A	10: 130,418,889	H642L	probably damaging	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Zfc3h1	A	G	10: 115,410,523		probably benign	Het

Other mutations in Marf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Marf1	APN	16	14115742	missense	possibly damaging	0.49
IGL00933:Marf1	APN	16	14117357	missense	probably damaging	1.00
IGL01101:Marf1	APN	16	14146736	missense	possibly damaging	0.85
IGL02140:Marf1	APN	16	14141912	missense	probably damaging	0.99
IGL03196:Marf1	APN	16	14140259	missense	possibly damaging	0.64
PIT4283001:Marf1	UTSW	16	14128568	missense	probably benign	0.22
R0016:Marf1	UTSW	16	14152265	missense	probably damaging	0.99
R0016:Marf1	UTSW	16	14152265	missense	probably damaging	0.99
R0046:Marf1	UTSW	16	14111727	missense	possibly damaging	0.83
R0046:Marf1	UTSW	16	14111727	missense	possibly damaging	0.83
R0056:Marf1	UTSW	16	14142534	missense	probably damaging	1.00
R0057:Marf1	UTSW	16	14142534	missense	probably damaging	1.00
R0058:Marf1	UTSW	16	14142534	missense	probably damaging	1.00
R0058:Marf1	UTSW	16	14142534	missense	probably damaging	1.00
R0113:Marf1	UTSW	16	14142534	missense	probably damaging	1.00
R0115:Marf1	UTSW	16	14142534	missense	probably damaging	1.00
R0179:Marf1	UTSW	16	14151176	missense	probably damaging	1.00
R0238:Marf1	UTSW	16	14151283	missense	probably benign	0.00
R0238:Marf1	UTSW	16	14151283	missense	probably benign	0.00
R0294:Marf1	UTSW	16	14142534	missense	probably damaging	1.00
R0295:Marf1	UTSW	16	14142534	missense	probably damaging	1.00
R0316:Marf1	UTSW	16	14142534	missense	probably damaging	1.00
R0318:Marf1	UTSW	16	14142534	missense	probably damaging	1.00
R0375:Marf1	UTSW	16	14151320	splice site	probably benign
R0383:Marf1	UTSW	16	14142534	missense	probably damaging	1.00
R0391:Marf1	UTSW	16	14142534	missense	probably damaging	1.00
R0504:Marf1	UTSW	16	14142534	missense	probably damaging	1.00
R0589:Marf1	UTSW	16	14142055	splice site	probably benign
R0603:Marf1	UTSW	16	14142534	missense	probably damaging	1.00
R0610:Marf1	UTSW	16	14142534	missense	probably damaging	1.00
R1240:Marf1	UTSW	16	14146762	missense	possibly damaging	0.48
R1445:Marf1	UTSW	16	14115824	missense	probably benign
R1716:Marf1	UTSW	16	14142586	missense	possibly damaging	0.95
R1921:Marf1	UTSW	16	14128601	missense	possibly damaging	0.63
R2098:Marf1	UTSW	16	14114200	missense	probably benign	0.00
R2155:Marf1	UTSW	16	14132429	missense	probably damaging	0.99
R2177:Marf1	UTSW	16	14152607	missense	probably benign	0.01
R2195:Marf1	UTSW	16	14111699	missense	probably benign
R2410:Marf1	UTSW	16	14115827	missense	probably benign	0.02
R2999:Marf1	UTSW	16	14142641	missense	possibly damaging	0.60
R3000:Marf1	UTSW	16	14142641	missense	possibly damaging	0.60
R3147:Marf1	UTSW	16	14125979	missense	possibly damaging	0.64
R3148:Marf1	UTSW	16	14125979	missense	possibly damaging	0.64
R3821:Marf1	UTSW	16	14142554	missense	probably damaging	1.00
R4383:Marf1	UTSW	16	14142641	missense	possibly damaging	0.60
R4384:Marf1	UTSW	16	14142641	missense	possibly damaging	0.60
R4520:Marf1	UTSW	16	14132666	missense	probably damaging	0.98
R4554:Marf1	UTSW	16	14153977	start gained	probably benign
R4557:Marf1	UTSW	16	14153977	start gained	probably benign
R4768:Marf1	UTSW	16	14131597	missense	possibly damaging	0.93
R4784:Marf1	UTSW	16	14152457	missense	probably benign
R4857:Marf1	UTSW	16	14128611	nonsense	probably null
R4863:Marf1	UTSW	16	14132665	missense	possibly damaging	0.60
R4994:Marf1	UTSW	16	14114231	missense	probably benign
R5191:Marf1	UTSW	16	14146078	missense	probably damaging	1.00
R5503:Marf1	UTSW	16	14152231	missense	probably damaging	0.99
R5813:Marf1	UTSW	16	14152585	missense	probably benign	0.35
R5905:Marf1	UTSW	16	14127249	missense	probably damaging	0.99
R5960:Marf1	UTSW	16	14152417	missense	probably damaging	0.98
R6104:Marf1	UTSW	16	14117455	missense	probably damaging	0.99
R6387:Marf1	UTSW	16	14141640	makesense	probably null
R6533:Marf1	UTSW	16	14115799	missense	probably benign	0.16
R6608:Marf1	UTSW	16	14132714	missense	probably damaging	1.00
R6642:Marf1	UTSW	16	14132747	missense	probably benign	0.02
R6954:Marf1	UTSW	16	14138520	missense	probably damaging	1.00
R6994:Marf1	UTSW	16	14128857	missense	probably damaging	1.00
R7010:Marf1	UTSW	16	14137001	missense	probably damaging	0.99
R7090:Marf1	UTSW	16	14111702	missense	possibly damaging	0.52
R7174:Marf1	UTSW	16	14136953	missense	probably damaging	1.00
R7221:Marf1	UTSW	16	14142485	missense	probably damaging	1.00
R7247:Marf1	UTSW	16	14127093	missense	probably damaging	1.00
R7557:Marf1	UTSW	16	14132696	missense	probably damaging	1.00
R7798:Marf1	UTSW	16	14138451	missense	probably benign	0.00
R7807:Marf1	UTSW	16	14153889	nonsense	probably null
R7855:Marf1	UTSW	16	14114201	missense	probably benign	0.27
R7867:Marf1	UTSW	16	14128606	missense	probably damaging	0.97
R7893:Marf1	UTSW	16	14146735	missense	probably damaging	1.00
R8291:Marf1	UTSW	16	14132568	critical splice donor site	probably null
R8746:Marf1	UTSW	16	14117304	missense	probably benign	0.18
R8842:Marf1	UTSW	16	14117305	missense	probably damaging	1.00
R9253:Marf1	UTSW	16	14117308	missense	probably damaging	1.00
R9350:Marf1	UTSW	16	14145925	missense	probably damaging	1.00
R9440:Marf1	UTSW	16	14120332	missense	probably benign	0.01
R9460:Marf1	UTSW	16	14129662	missense	probably damaging	1.00
R9658:Marf1	UTSW	16	14140223	missense	probably damaging	1.00
R9698:Marf1	UTSW	16	14149213	missense	probably benign	0.00
U24488:Marf1	UTSW	16	14132366	nonsense	probably null
X0025:Marf1	UTSW	16	14114278	missense	probably damaging	1.00
Z1176:Marf1	UTSW	16	14115777	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATACCTCAGTACAGGGGAACGC -3'
(R):5'- TGAATAGAGCCTCACCACTTG -3'

Sequencing Primer
(F):5'- CTTTTGGGGTAGCATTGGAAATGAAG -3'
(R):5'- GAATAGAGCCTCACCACTTGCTTTC -3'

Posted On

2015-02-18