Mutagenetix > Incidental Mutation

Incidental Mutation 'R0375:Marf1'

30713

Institutional Source

Beutler Lab

Gene Symbol

Marf1

Ensembl Gene

ENSMUSG00000060657

Gene Name

meiosis regulator and mRNA stability 1

Synonyms

4921513D23Rik

MMRRC Submission

038581-MU

Accession Numbers

Essential gene?

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

Stock #

R0375 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14109173-14163351 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 14151320 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

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 37,046,252	T4707I	probably damaging	Het
5730522E02Rik	T	A	11: 25,769,092	Y17F	unknown	Het
Aars2	A	G	17: 45,514,550	D313G	probably damaging	Het
Abca9	A	T	11: 110,115,447	D1277E	probably benign	Het
Adgrl1	G	T	8: 83,934,901	A981S	probably damaging	Het
Aff3	T	G	1: 38,204,940	K917Q	possibly damaging	Het
BC049715	A	T	6: 136,839,996	H78L	probably benign	Het
Cacna1g	C	A	11: 94,411,054	A2027S	possibly damaging	Het
Camk1g	G	A	1: 193,356,401		probably benign	Het
Carf	T	C	1: 60,144,002	V386A	probably damaging	Het
Cd46	A	G	1: 195,086,164	S82P	probably benign	Het
Clic5	A	G	17: 44,270,623	E180G	possibly damaging	Het
Col27a1	A	G	4: 63,225,661	T529A	probably benign	Het
Col7a1	C	T	9: 108,980,237	R2627C	unknown	Het
Cuzd1	G	A	7: 131,311,908		probably benign	Het
Cwc27	T	C	13: 104,807,823	D50G	possibly damaging	Het
Dhx38	A	G	8: 109,555,181	V735A	possibly damaging	Het
Dhx57	T	G	17: 80,258,121	E834A	probably damaging	Het
Dsg4	A	G	18: 20,470,879	D801G	probably damaging	Het
Dtx1	T	C	5: 120,681,399	E578G	probably damaging	Het
F830016B08Rik	A	T	18: 60,300,193	H116L	probably damaging	Het
Fam208b	A	G	13: 3,596,842	V61A	possibly damaging	Het
Fbxw18	T	C	9: 109,688,839	I360V	possibly damaging	Het
Fignl2	G	A	15: 101,054,093	P103S	probably benign	Het
Frmpd1	A	G	4: 45,284,196	T1006A	probably benign	Het
Ggnbp2	G	T	11: 84,836,374	C545*	probably null	Het
Gm3336	A	G	8: 70,718,645		probably benign	Het
Gpr37	T	C	6: 25,669,291	N518S	probably benign	Het
Hbs1l	T	A	10: 21,342,541	D312E	possibly damaging	Het
Hoxd10	C	A	2: 74,692,720	S247R	probably benign	Het
Ifnb1	A	T	4: 88,522,744	F11I	probably benign	Het
Myo1f	T	A	17: 33,601,956	V879E	probably benign	Het
Naip1	A	G	13: 100,409,148	F1291L	probably benign	Het
Nckap1l	A	G	15: 103,474,159	E529G	probably damaging	Het
Npm3	T	C	19: 45,748,229	E157G	probably damaging	Het
Olfr1200	T	A	2: 88,767,641	T225S	possibly damaging	Het
Olfr1240	G	T	2: 89,439,396	N294K	probably benign	Het
Olfr248	A	G	1: 174,391,209	T47A	probably damaging	Het
Pex16	G	A	2: 92,380,457	G312D	probably damaging	Het
Ppp6r1	A	G	7: 4,633,287	V768A	probably benign	Het
Prrc1	A	G	18: 57,362,492	T14A	probably damaging	Het
Ranbp2	T	C	10: 58,477,283	L1275P	probably damaging	Het
Rnf214	C	A	9: 45,899,823	V181F	probably damaging	Het
Ror2	T	C	13: 53,132,004	N58S	probably damaging	Het
Selplg	G	A	5: 113,820,008	T79I	probably damaging	Het
Setd1b	G	A	5: 123,157,437	G1023S	unknown	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Skint5	A	G	4: 113,705,596	V803A	unknown	Het
Slc25a46	T	C	18: 31,583,266	I394M	possibly damaging	Het
Snrnp27	A	T	6: 86,680,953	I101K	possibly damaging	Het
Spag17	C	A	3: 100,027,590	T704K	probably benign	Het
Tas2r144	T	A	6: 42,216,124	M266K	possibly damaging	Het
Tbc1d31	T	A	15: 57,955,350	L783H	probably benign	Het
Tbck	C	A	3: 132,751,232		probably benign	Het
Vcan	A	G	13: 89,691,275	V2050A	probably damaging	Het
Vmn1r70	T	A	7: 10,634,060	N158K	probably damaging	Het
Vmn2r103	T	A	17: 19,792,859	Y81N	probably benign	Het
Vmn2r103	A	G	17: 19,793,464	T173A	probably benign	Het
Ylpm1	T	G	12: 85,014,980	S552A	unknown	Het
Zdhhc17	A	T	10: 110,982,106	Y58*	probably null	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
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
R3430:Marf1	UTSW	16	14140177	unclassified	probably benign
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'- ACTGGTTGCCAACAACAATGAGGTC -3'
(R):5'- ACTTGAAACTCAGCTCCAGGCATAC -3'

Sequencing Primer
(F):5'- AGGTCTCCTTTTCCATGCC -3'
(R):5'- GTTCAAAGGAAAGCATTTCTGCC -3'

Posted On

2013-04-24