Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03196:Marf1'

412810

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Marf1

Ensembl Gene

ENSMUSG00000060657

Gene Name

meiosis regulator and mRNA stability 1

Synonyms

4921513D23Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

IGL03196

Quality Score

Status

Chromosome

Chromosomal Location

14109173-14163351 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14140259 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 793 (V793A)

Ref Sequence

ENSEMBL: ENSMUSP00000087770 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090300
AA Change: V793A

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000087770
Gene: ENSMUSG00000060657
AA Change: V793A

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	C	6: 83,161,063	V57A	probably damaging	Het
2410089E03Rik	A	T	15: 8,201,342	K1034N	probably damaging	Het
Adck1	T	C	12: 88,431,115	V173A	probably damaging	Het
Adgrv1	C	A	13: 81,446,478	R4139L	probably benign	Het
Aqp4	T	G	18: 15,393,509	D305A	probably benign	Het
Cadm1	T	C	9: 47,799,377	S193P	possibly damaging	Het
Ccdc88a	T	C	11: 29,482,340	S377P	possibly damaging	Het
Clic5	C	A	17: 44,242,073	H71Q	possibly damaging	Het
Col20a1	G	A	2: 181,007,878		probably null	Het
Col5a1	A	G	2: 27,975,598	D759G	unknown	Het
Cpt1b	A	G	15: 89,424,395	V110A	probably benign	Het
Cts8	C	T	13: 61,253,458	G85S	probably benign	Het
Cul5	T	A	9: 53,625,880	M551L	probably damaging	Het
Eno1b	T	A	18: 48,047,491	D245E	probably damaging	Het
Fgf1	A	T	18: 38,841,975	Y140*	probably null	Het
Flt1	A	G	5: 147,615,127		probably null	Het
Fndc7	A	G	3: 108,883,444	Y89H	probably damaging	Het
Gm3127	A	T	14: 4,172,510	M254L	probably benign	Het
Gm5849	T	C	3: 90,777,782	E32G	probably damaging	Het
Gys1	T	C	7: 45,454,817		probably benign	Het
Hdgfl2	T	C	17: 56,093,607	V125A	probably benign	Het
Hypm	A	G	X: 9,847,110	Q27R	possibly damaging	Het
Igkv6-32	C	T	6: 70,074,058	V105I	probably benign	Het
Lmo3	T	C	6: 138,365,995	T140A	probably benign	Het
Mep1b	A	C	18: 21,095,064	I575L	probably benign	Het
Mtmr4	T	A	11: 87,600,783	I155N	possibly damaging	Het
Muc2	T	C	7: 141,747,630	F361L	probably damaging	Het
Ncoa7	T	A	10: 30,647,514		probably benign	Het
Nme6	C	T	9: 109,841,493	R71W	probably damaging	Het
Olfr1015	G	A	2: 85,786,021	G170D	possibly damaging	Het
Olfr1158	A	T	2: 87,990,482	I124F	possibly damaging	Het
Olfr504	T	C	7: 108,564,854	S314G	probably benign	Het
Osbpl9	C	T	4: 109,072,864	V357I	probably damaging	Het
Ppp4r3a	A	G	12: 101,049,654		probably benign	Het
Rnf216	T	C	5: 143,081,011	R474G	probably damaging	Het
Rpp25l	A	G	4: 41,712,541	V78A	possibly damaging	Het
Sh3bp2	C	A	5: 34,557,343	P245Q	probably damaging	Het
Slc33a1	A	G	3: 63,963,730	F154S	possibly damaging	Het
Wasf2	T	A	4: 133,194,421	S284T	unknown	Het
Wdtc1	T	C	4: 133,295,337	E566G	probably damaging	Het
Zcchc14	C	T	8: 121,609,138		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
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
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
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

Posted On

2016-08-02