Mutagenetix > Incidental Mutation

Incidental Mutation 'R9440:Marf1'

713605

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 #

R9440 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14109173-14163351 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 14120332 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1433 (D1433E)

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: D1433E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000087770
Gene: ENSMUSG00000060657
AA Change: D1433E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	T	16: 90,929,944	V116E	probably benign	Het
Abca17	G	A	17: 24,280,478	T1359M	probably benign	Het
Acacb	T	A	5: 114,246,024	C2205S	possibly damaging	Het
Akap3	A	G	6: 126,864,628	E70G	probably benign	Het
Aldh1a3	C	A	7: 66,419,244		probably null	Het
Asb4	A	G	6: 5,429,817	I352M	probably benign	Het
Bach1	C	G	16: 87,719,715	S381R	probably benign	Het
BC034090	A	G	1: 155,226,215	L101P	probably benign	Het
Bms1	A	T	6: 118,405,256	D440E	probably benign	Het
Bpifb6	A	T	2: 153,905,994	D191V	probably benign	Het
Cfd	T	C	10: 79,890,982		probably null	Het
Cnot3	G	A	7: 3,653,561	E252K	probably damaging	Het
Col6a3	T	C	1: 90,779,346	D2622G	unknown	Het
Crybg2	T	C	4: 134,074,291	S612P	probably benign	Het
Cyp4b1	T	C	4: 115,636,384	K167R	probably damaging	Het
Gbp3	T	C	3: 142,566,574	V279A	possibly damaging	Het
Gipc2	T	C	3: 152,128,069	T192A	possibly damaging	Het
Gm3285	T	C	10: 77,862,077	V20A		Het
Gm35339	T	C	15: 76,360,864	S1176P		Het
Gorasp2	T	C	2: 70,711,125		probably null	Het
Gpr179	A	G	11: 97,338,489	S947P	probably benign	Het
Klra5	C	A	6: 129,906,723	W147L	possibly damaging	Het
Lrch4	G	A	5: 137,637,789	R368Q	probably damaging	Het
Mamdc4	A	G	2: 25,565,588	V876A	probably benign	Het
Mcm4	A	T	16: 15,635,311	C171*	probably null	Het
Micall1	C	T	15: 79,126,959	P510S		Het
Morc3	A	G	16: 93,853,087		probably null	Het
Mrpl28	G	T	17: 26,126,292	V229F	possibly damaging	Het
Mrps33	A	T	6: 39,805,430	Y52*	probably null	Het
Mybphl	T	C	3: 108,374,886	I144T	probably benign	Het
Myom1	A	G	17: 71,126,334	M1657V	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,057		probably benign	Het
Olfr492	A	G	7: 108,322,830	I282T	probably benign	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Plxna1	T	C	6: 89,341,930	K637R	probably benign	Het
Prob1	G	T	18: 35,653,165	L679I	possibly damaging	Het
Sgms2	C	A	3: 131,325,069	C255F	probably damaging	Het
Slc17a9	T	C	2: 180,741,297	C399R	probably benign	Het
Smc4	T	A	3: 69,008,122		probably null	Het
St14	A	G	9: 31,096,549	L578P	probably damaging	Het
Tcaf3	A	T	6: 42,596,972	L102*	probably null	Het
Tex15	A	G	8: 33,582,245	T2607A	possibly damaging	Het
Trav15-2-dv6-2	T	A	14: 53,649,475		probably benign	Het
Trip4	T	C	9: 65,852,952		probably null	Het
Ttf1	A	G	2: 29,065,697	I358V	probably benign	Het
Uroc1	C	A	6: 90,345,371	S292R	possibly damaging	Het
Vmn1r5	T	C	6: 56,985,430	I30T	possibly damaging	Het
Vps33a	A	T	5: 123,564,984	I192N	probably damaging	Het
Vps50	A	G	6: 3,516,724	I69V	probably benign	Het
Xirp1	G	A	9: 120,018,137	T560M	probably damaging	Het
Zfp512	A	T	5: 31,471,015	T266S	possibly 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
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
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'- CTATGGTAGACCTCACAGAACTCC -3'
(R):5'- CACTGCCGCTTGTGTGTAAG -3'

Sequencing Primer
(F):5'- CAGGCTGAGACACTTCCGATAATG -3'
(R):5'- TCCCAGTAGCTAGAATGGATGATCTG -3'

Posted On

2022-06-15