Mutagenetix > Incidental Mutation

Incidental Mutation 'R4557:Marf1'

341925

Institutional Source

Beutler Lab

Gene Symbol

Marf1

Ensembl Gene

ENSMUSG00000060657

Gene Name

meiosis regulator and mRNA stability 1

Synonyms

4921513D23Rik

MMRRC Submission

041784-MU

Accession Numbers

Essential gene?

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

Stock #

R4557 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14109173-14163351 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

T to C at 14153977 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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (49/50)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830005F24Rik	T	C	13: 48,514,461		probably benign	Het
Acad11	T	C	9: 104,082,839	F219L	probably benign	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Adamts17	A	T	7: 67,027,893	E518D	probably damaging	Het
Adamts3	A	G	5: 89,700,487	Y659H	probably benign	Het
Adgrb3	T	C	1: 25,084,279	R1414G	probably damaging	Het
Apba1	T	A	19: 23,917,592	I464N	probably damaging	Het
Bahcc1	A	G	11: 120,275,088	T1057A	probably damaging	Het
Bcl11a	A	G	11: 24,164,004	E449G	probably damaging	Het
Ccdc162	T	A	10: 41,587,388	I1453L	probably benign	Het
Ccdc175	T	A	12: 72,128,306	E531V	probably benign	Het
Cep68	A	T	11: 20,239,113		probably benign	Het
Dlgap1	C	A	17: 70,516,689	T223K	probably benign	Het
Exoc1	G	A	5: 76,561,443	V24M	probably damaging	Het
Fbxo4	A	G	15: 3,965,705	*386R	probably null	Het
Gm10100	G	A	10: 77,726,531		probably benign	Het
Gpr149	A	G	3: 62,530,870	V622A	probably damaging	Het
Gpr149	A	C	3: 62,604,497	M27R	probably benign	Het
Ighv3-6	T	C	12: 114,288,198	N101D	probably benign	Het
Igkv4-78	A	G	6: 69,059,771	S93P	possibly damaging	Het
Kmt2c	A	T	5: 25,300,315	W3332R	probably damaging	Het
Mcrs1	A	G	15: 99,243,147	I459T	probably benign	Het
Mdn1	G	T	4: 32,754,437	C4646F	probably damaging	Het
Med17	T	C	9: 15,271,697	K351E	possibly damaging	Het
Nalcn	T	C	14: 123,321,235		probably benign	Het
Olfr389	G	A	11: 73,776,481	T282I	possibly damaging	Het
Olfr398	A	T	11: 73,984,599	V3E	probably benign	Het
Olfr761	C	A	17: 37,952,251	A258S	probably benign	Het
Olfr816	A	G	10: 129,911,529	Y250H	probably damaging	Het
Phrf1	C	T	7: 141,258,929		probably benign	Het
Pitpnm1	A	G	19: 4,103,085	Q135R	probably benign	Het
Prdm16	T	A	4: 154,528,827	M48L	probably benign	Het
Ptpn13	A	G	5: 103,541,110	E923G	probably damaging	Het
Rp1	A	T	1: 4,344,663	S2075R	possibly damaging	Het
Sft2d2	A	G	1: 165,183,984	C114R	probably damaging	Het
Sipa1l2	T	G	8: 125,464,415	R945S	probably damaging	Het
Slc12a1	A	G	2: 125,186,641	N517S	probably damaging	Het
Slc44a2	T	G	9: 21,346,783	L443R	possibly damaging	Het
Smok4a	T	C	17: 13,526,381		noncoding transcript	Het
Snx18	A	G	13: 113,617,828	S190P	probably damaging	Het
Thap12	A	G	7: 98,715,845	N407D	probably benign	Het
Tmc5	T	C	7: 118,670,733	I902T	probably benign	Het
Ttc27	T	G	17: 74,829,549	S584A	probably benign	Het
Ttn	A	T	2: 76,949,015	Y1174N	probably damaging	Het
Zbtb44	T	G	9: 31,064,248	S391R	probably damaging	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
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
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

Posted On

2015-09-24