Mutagenetix > Incidental Mutation

Incidental Mutation 'R6533:Marf1'

520231

Institutional Source

Beutler Lab

Gene Symbol

Marf1

Ensembl Gene

ENSMUSG00000060657

Gene Name

meiosis regulator and mRNA stability 1

Synonyms

4921513D23Rik

MMRRC Submission

044659-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R6533 (G1)

Quality Score

222.009

Status

Validated

Chromosome

Chromosomal Location

13927030-13977157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13933663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1575 (D1575G)

Ref Sequence

ENSEMBL: ENSMUSP00000087770 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000090300
AA Change: D1575G

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000087770
Gene: ENSMUSG00000060657
AA Change: D1575G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010B08Rik	C	T	2: 173,561,628 (GRCm39)		probably benign	Het
4932414N04Rik	G	T	2: 68,546,662 (GRCm39)	E115*	probably null	Het
Abhd16a	G	A	17: 35,317,785 (GRCm39)		probably null	Het
Ankrd28	T	A	14: 31,454,041 (GRCm39)	I244L	possibly damaging	Het
Barx2	T	C	9: 31,824,275 (GRCm39)	Y38C	probably damaging	Het
Btn2a2	C	A	13: 23,665,951 (GRCm39)	E294*	probably null	Het
Ceacam2	C	G	7: 25,230,136 (GRCm39)	V157L	probably benign	Het
Ces2c	T	A	8: 105,578,725 (GRCm39)	F334L	possibly damaging	Het
Col7a1	T	C	9: 108,790,426 (GRCm39)	I958T	unknown	Het
Dcp2	T	A	18: 44,532,731 (GRCm39)	D82E	probably benign	Het
Dnah8	T	C	17: 30,965,964 (GRCm39)	L2432S	probably damaging	Het
Dst	A	G	1: 34,342,590 (GRCm39)	D7582G	probably benign	Het
Fat3	T	A	9: 15,910,195 (GRCm39)	I1936L	probably benign	Het
Gsdmc4	T	A	15: 63,763,909 (GRCm39)	N396I	probably damaging	Het
Lonrf2	A	C	1: 38,852,349 (GRCm39)	D167E	probably benign	Het
Med23	T	C	10: 24,769,518 (GRCm39)	L101P	probably damaging	Het
Myh3	A	G	11: 66,981,245 (GRCm39)	I703V	probably damaging	Het
Ncan	G	A	8: 70,549,007 (GRCm39)	A1257V	probably benign	Het
Nipal4	A	T	11: 46,041,234 (GRCm39)	Y320*	probably null	Het
Obox5	A	T	7: 15,491,532 (GRCm39)	Q24L	probably benign	Het
Orc1	T	C	4: 108,454,644 (GRCm39)	S345P	probably benign	Het
P4hb	A	T	11: 120,462,469 (GRCm39)	I79N	probably damaging	Het
Phf3	A	T	1: 30,845,399 (GRCm39)	I1262N	probably damaging	Het
Pigo	A	T	4: 43,022,697 (GRCm39)	N291K	probably benign	Het
Ppargc1b	C	T	18: 61,440,845 (GRCm39)	R691H	possibly damaging	Het
Ppm1m	T	C	9: 106,074,069 (GRCm39)		probably benign	Het
Ptprd	A	T	4: 76,046,765 (GRCm39)	D500E	probably damaging	Het
Rab3gap2	T	A	1: 184,965,151 (GRCm39)		probably null	Het
Rnf214	A	G	9: 45,811,361 (GRCm39)	S101P	probably benign	Het
Sdhc	A	G	1: 170,957,396 (GRCm39)	S162P	possibly damaging	Het
Spta1	C	T	1: 174,071,713 (GRCm39)	T2231I	probably damaging	Het
Stxbp2	T	A	8: 3,692,683 (GRCm39)	D578E	probably benign	Het
Tacc2	A	T	7: 130,224,567 (GRCm39)	E417D	possibly damaging	Het
Tas2r144	A	T	6: 42,192,280 (GRCm39)	N7Y	probably benign	Het
Tasp1	A	G	2: 139,676,277 (GRCm39)	*421R	probably null	Het
Tigd5	A	G	15: 75,782,039 (GRCm39)	I134V	possibly damaging	Het
Tmem95	A	T	11: 69,768,843 (GRCm39)	M1K	probably null	Het
Trappc10	T	C	10: 78,024,728 (GRCm39)	M1134V	probably damaging	Het
Unc45a	T	G	7: 79,983,817 (GRCm39)	K326N	probably damaging	Het
Vmn1r59	A	G	7: 5,457,463 (GRCm39)	V99A	probably benign	Het
Vmn2r4	T	C	3: 64,322,519 (GRCm39)	T67A	probably benign	Het
Vmn2r85	A	T	10: 130,262,529 (GRCm39)	M70K	probably benign	Het
Zftraf1	C	A	15: 76,531,930 (GRCm39)	E283*	probably null	Het
Zkscan8	A	G	13: 21,704,748 (GRCm39)	F325S	probably damaging	Het

Other mutations in Marf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Marf1	APN	16	13,933,606 (GRCm39)	missense	possibly damaging	0.49
IGL00933:Marf1	APN	16	13,935,221 (GRCm39)	missense	probably damaging	1.00
IGL01101:Marf1	APN	16	13,964,600 (GRCm39)	missense	possibly damaging	0.85
IGL02140:Marf1	APN	16	13,959,776 (GRCm39)	missense	probably damaging	0.99
IGL03196:Marf1	APN	16	13,958,123 (GRCm39)	missense	possibly damaging	0.64
PIT4283001:Marf1	UTSW	16	13,946,432 (GRCm39)	missense	probably benign	0.22
R0016:Marf1	UTSW	16	13,970,129 (GRCm39)	missense	probably damaging	0.99
R0016:Marf1	UTSW	16	13,970,129 (GRCm39)	missense	probably damaging	0.99
R0046:Marf1	UTSW	16	13,929,591 (GRCm39)	missense	possibly damaging	0.83
R0046:Marf1	UTSW	16	13,929,591 (GRCm39)	missense	possibly damaging	0.83
R0056:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0057:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0058:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0058:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0113:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0115:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0179:Marf1	UTSW	16	13,969,040 (GRCm39)	missense	probably damaging	1.00
R0238:Marf1	UTSW	16	13,969,147 (GRCm39)	missense	probably benign	0.00
R0238:Marf1	UTSW	16	13,969,147 (GRCm39)	missense	probably benign	0.00
R0294:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0295:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0316:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0318:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0375:Marf1	UTSW	16	13,969,184 (GRCm39)	splice site	probably benign
R0383:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0391:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0504:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0589:Marf1	UTSW	16	13,959,919 (GRCm39)	splice site	probably benign
R0603:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R0610:Marf1	UTSW	16	13,960,398 (GRCm39)	missense	probably damaging	1.00
R1240:Marf1	UTSW	16	13,964,626 (GRCm39)	missense	possibly damaging	0.48
R1445:Marf1	UTSW	16	13,933,688 (GRCm39)	missense	probably benign
R1716:Marf1	UTSW	16	13,960,450 (GRCm39)	missense	possibly damaging	0.95
R1921:Marf1	UTSW	16	13,946,465 (GRCm39)	missense	possibly damaging	0.63
R2098:Marf1	UTSW	16	13,932,064 (GRCm39)	missense	probably benign	0.00
R2155:Marf1	UTSW	16	13,950,293 (GRCm39)	missense	probably damaging	0.99
R2177:Marf1	UTSW	16	13,970,471 (GRCm39)	missense	probably benign	0.01
R2195:Marf1	UTSW	16	13,929,563 (GRCm39)	missense	probably benign
R2410:Marf1	UTSW	16	13,933,691 (GRCm39)	missense	probably benign	0.02
R2999:Marf1	UTSW	16	13,960,505 (GRCm39)	missense	possibly damaging	0.60
R3000:Marf1	UTSW	16	13,960,505 (GRCm39)	missense	possibly damaging	0.60
R3147:Marf1	UTSW	16	13,943,843 (GRCm39)	missense	possibly damaging	0.64
R3148:Marf1	UTSW	16	13,943,843 (GRCm39)	missense	possibly damaging	0.64
R3430:Marf1	UTSW	16	13,958,041 (GRCm39)	unclassified	probably benign
R3821:Marf1	UTSW	16	13,960,418 (GRCm39)	missense	probably damaging	1.00
R4383:Marf1	UTSW	16	13,960,505 (GRCm39)	missense	possibly damaging	0.60
R4384:Marf1	UTSW	16	13,960,505 (GRCm39)	missense	possibly damaging	0.60
R4520:Marf1	UTSW	16	13,950,530 (GRCm39)	missense	probably damaging	0.98
R4554:Marf1	UTSW	16	13,971,841 (GRCm39)	start gained	probably benign
R4557:Marf1	UTSW	16	13,971,841 (GRCm39)	start gained	probably benign
R4768:Marf1	UTSW	16	13,949,461 (GRCm39)	missense	possibly damaging	0.93
R4784:Marf1	UTSW	16	13,970,321 (GRCm39)	missense	probably benign
R4857:Marf1	UTSW	16	13,946,475 (GRCm39)	nonsense	probably null
R4863:Marf1	UTSW	16	13,950,529 (GRCm39)	missense	possibly damaging	0.60
R4994:Marf1	UTSW	16	13,932,095 (GRCm39)	missense	probably benign
R5191:Marf1	UTSW	16	13,963,942 (GRCm39)	missense	probably damaging	1.00
R5503:Marf1	UTSW	16	13,970,095 (GRCm39)	missense	probably damaging	0.99
R5813:Marf1	UTSW	16	13,970,449 (GRCm39)	missense	probably benign	0.35
R5905:Marf1	UTSW	16	13,945,113 (GRCm39)	missense	probably damaging	0.99
R5960:Marf1	UTSW	16	13,970,281 (GRCm39)	missense	probably damaging	0.98
R6104:Marf1	UTSW	16	13,935,319 (GRCm39)	missense	probably damaging	0.99
R6387:Marf1	UTSW	16	13,959,504 (GRCm39)	makesense	probably null
R6608:Marf1	UTSW	16	13,950,578 (GRCm39)	missense	probably damaging	1.00
R6642:Marf1	UTSW	16	13,950,611 (GRCm39)	missense	probably benign	0.02
R6954:Marf1	UTSW	16	13,956,384 (GRCm39)	missense	probably damaging	1.00
R6994:Marf1	UTSW	16	13,946,721 (GRCm39)	missense	probably damaging	1.00
R7010:Marf1	UTSW	16	13,954,865 (GRCm39)	missense	probably damaging	0.99
R7090:Marf1	UTSW	16	13,929,566 (GRCm39)	missense	possibly damaging	0.52
R7174:Marf1	UTSW	16	13,954,817 (GRCm39)	missense	probably damaging	1.00
R7221:Marf1	UTSW	16	13,960,349 (GRCm39)	missense	probably damaging	1.00
R7247:Marf1	UTSW	16	13,944,957 (GRCm39)	missense	probably damaging	1.00
R7557:Marf1	UTSW	16	13,950,560 (GRCm39)	missense	probably damaging	1.00
R7798:Marf1	UTSW	16	13,956,315 (GRCm39)	missense	probably benign	0.00
R7807:Marf1	UTSW	16	13,971,753 (GRCm39)	nonsense	probably null
R7855:Marf1	UTSW	16	13,932,065 (GRCm39)	missense	probably benign	0.27
R7867:Marf1	UTSW	16	13,946,470 (GRCm39)	missense	probably damaging	0.97
R7893:Marf1	UTSW	16	13,964,599 (GRCm39)	missense	probably damaging	1.00
R8291:Marf1	UTSW	16	13,950,432 (GRCm39)	critical splice donor site	probably null
R8746:Marf1	UTSW	16	13,935,168 (GRCm39)	missense	probably benign	0.18
R8842:Marf1	UTSW	16	13,935,169 (GRCm39)	missense	probably damaging	1.00
R9253:Marf1	UTSW	16	13,935,172 (GRCm39)	missense	probably damaging	1.00
R9350:Marf1	UTSW	16	13,963,789 (GRCm39)	missense	probably damaging	1.00
R9440:Marf1	UTSW	16	13,938,196 (GRCm39)	missense	probably benign	0.01
R9460:Marf1	UTSW	16	13,947,526 (GRCm39)	missense	probably damaging	1.00
R9658:Marf1	UTSW	16	13,958,087 (GRCm39)	missense	probably damaging	1.00
R9698:Marf1	UTSW	16	13,967,077 (GRCm39)	missense	probably benign	0.00
U24488:Marf1	UTSW	16	13,950,230 (GRCm39)	nonsense	probably null
X0025:Marf1	UTSW	16	13,932,142 (GRCm39)	missense	probably damaging	1.00
Z1176:Marf1	UTSW	16	13,933,641 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTTTAATGAAATTGCCCACTGTCC -3'
(R):5'- ACCAGGAGTATGTCTTGTGTGC -3'

Sequencing Primer
(F):5'- AATGAAATTGCCCACTGTCCTTTTC -3'
(R):5'- TGACATGAAAAGTAAGTAAGCTCCC -3'

Posted On

2018-06-06