Mutagenetix > Incidental Mutation

Incidental Mutation 'R6954:Marf1'

541394

Institutional Source

Beutler Lab

Gene Symbol

Marf1

Ensembl Gene

ENSMUSG00000060657

Gene Name

meiosis regulator and mRNA stability 1

Synonyms

4921513D23Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R6954 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14109173-14163351 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14138520 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 819 (V819A)

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: V819A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087770
Gene: ENSMUSG00000060657
AA Change: V819A

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

98% (57/58)

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
2210407C18Rik	T	A	11: 58,608,488	Y168F	probably benign	Het
4930451I11Rik	A	T	7: 126,830,637		probably null	Het
Alox5	A	C	6: 116,420,280	Y314*	probably null	Het
Ap4e1	T	C	2: 127,064,951	S1044P	probably benign	Het
Ash2l	A	G	8: 25,822,768	V391A	possibly damaging	Het
B4galnt4	A	G	7: 141,067,232	T326A	probably benign	Het
Ccm2	T	A	11: 6,594,239	I345N	probably damaging	Het
Cntnap3	G	A	13: 64,748,559	H1034Y	probably benign	Het
Cpsf1	A	G	15: 76,599,496	L849S	probably damaging	Het
Ctrb1	A	G	8: 111,686,664	S239P	probably damaging	Het
D13Ertd608e	A	G	13: 119,846,130	D20G	possibly damaging	Het
Dennd1b	T	A	1: 139,168,945		probably benign	Het
Dnah17	A	G	11: 118,066,432	I2773T	probably damaging	Het
Eif2b2	T	A	12: 85,226,043	F267L	probably damaging	Het
Fcrls	A	G	3: 87,263,676		probably benign	Het
Furin	G	T	7: 80,396,964	D181E	possibly damaging	Het
Gm29106	T	A	1: 118,200,587	C670S	probably damaging	Het
Gm6309	A	T	5: 146,168,490	D204E	possibly damaging	Het
Hsf2	T	A	10: 57,504,643	I191N	probably damaging	Het
Hspa12a	T	C	19: 58,799,692	D566G	probably benign	Het
Igf1	G	C	10: 87,864,860	V49L	probably damaging	Het
Igfbpl1	C	T	4: 45,826,663	C44Y	probably damaging	Het
Letm1	G	A	5: 33,782,507	R16C	probably benign	Het
Mfsd4b4	A	T	10: 39,891,952	S428T	probably benign	Het
Myo1d	T	C	11: 80,674,957	I347M	probably benign	Het
Myo9b	A	G	8: 71,290,819	I175V	probably damaging	Het
Naip5	A	T	13: 100,223,414	V438E	probably damaging	Het
Nup205	T	A	6: 35,208,109	V768E	possibly damaging	Het
Olfr1015	T	A	2: 85,786,382	Y290*	probably null	Het
Olfr731	A	T	14: 50,238,110	Y258*	probably null	Het
Pcdh15	C	T	10: 74,645,989	H1651Y	possibly damaging	Het
Pdgfra	A	T	5: 75,173,394	Q376L	possibly damaging	Het
Pign	T	C	1: 105,553,897	I791M	probably benign	Het
Pik3c2b	T	G	1: 133,066,303	S2A	possibly damaging	Het
Pip5k1a	A	T	3: 95,068,247	I304K	probably damaging	Het
Pkdrej	A	T	15: 85,817,853	L1294*	probably null	Het
Pprc1	T	C	19: 46,064,433	S797P	probably damaging	Het
Prob1	A	G	18: 35,654,268	V311A	probably benign	Het
Prune2	C	A	19: 17,000,021	T40K	probably damaging	Het
Rif1	T	G	2: 52,112,691	D2052E	probably benign	Het
Sall1	A	G	8: 89,032,891	V195A	probably damaging	Het
Scfd1	T	C	12: 51,427,946		probably null	Het
Sidt2	A	T	9: 45,952,850	N123K	probably benign	Het
Slc22a6	G	A	19: 8,622,096	A320T	probably benign	Het
Slc25a10	A	G	11: 120,498,147	H279R	probably benign	Het
Slc35b4	A	G	6: 34,158,621	V252A	probably benign	Het
Slc46a3	T	C	5: 147,886,340	T231A	probably benign	Het
Stxbp1	T	A	2: 32,801,893	H429L	probably damaging	Het
Tas2r134	C	T	2: 51,627,770	T87I	probably benign	Het
Tdpoz2	A	T	3: 93,652,275	L130H	probably damaging	Het
Tmem69	T	C	4: 116,554,724		probably null	Het
Tmppe	G	A	9: 114,405,523	V297I	probably benign	Het
Ung	G	T	5: 114,131,337	A37S	probably benign	Het
Vdac1	T	C	11: 52,386,373	Y237H	probably damaging	Het
Vgll4	T	C	6: 114,921,367	Y11C	probably damaging	Het
Vmn1r24	A	G	6: 57,956,452	I27T	probably benign	Het
Zfp280b	T	A	10: 76,039,688	M467K	probably benign	Het
Zkscan4	A	G	13: 21,484,365	I329V	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
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
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'- AGAGTGACTTGTTGGCAGCTC -3'
(R):5'- AACCTGGTATTTTGCAGAGTTGTAG -3'

Sequencing Primer
(F):5'- TCCTGTGGAGAGTGAGACCAGTATC -3'
(R):5'- AACTTTGAGTTTGCCTCTGAGAG -3'

Posted On

2018-11-28