Mutagenetix > Incidental Mutation

Incidental Mutation 'R3876:Mios'

276840

Institutional Source

Beutler Lab

Gene Symbol

Mios

Ensembl Gene

ENSMUSG00000042447

Gene Name

meiosis regulator for oocyte development

Synonyms

MMRRC Submission

041606-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R3876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8209222-8236274 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 8233189 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 779 (R779Q)

Ref Sequence

ENSEMBL: ENSMUSP00000039301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040017]

AlphaFold

Q8VE19

Predicted Effect

probably damaging
Transcript: ENSMUST00000040017
AA Change: R779Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039301
Gene: ENSMUSG00000042447
AA Change: R779Q

Domain	Start	End	E-Value	Type
Blast:WD40	49	91	2e-18	BLAST
WD40	101	146	2.05e1	SMART
WD40	174	212	3.55e1	SMART
WD40	214	252	2.45e2	SMART
WD40	256	297	6.42e-1	SMART
Blast:WD40	312	354	2e-13	BLAST
Pfam:zinc_ribbon_16	737	861	1.3e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160265

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161134

Meta Mutation Damage Score

0.1954

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	G	A	14: 54,591,400	R215*	probably null	Het
Brinp2	C	A	1: 158,246,846	L568F	probably damaging	Het
Brip1	T	C	11: 86,152,790	Y316C	probably damaging	Het
Cdk5rap2	ATGTG	ATG	4: 70,289,977		probably null	Het
Cfap69	G	T	5: 5,584,645		probably benign	Het
Chrnb4	T	C	9: 55,043,898	E27G	probably damaging	Het
Clec14a	A	G	12: 58,268,644	V64A	possibly damaging	Het
Crygs	A	G	16: 22,806,512	Y60H	probably damaging	Het
Dpp10	T	A	1: 123,353,487	Q611L	probably damaging	Het
Entpd1	T	C	19: 40,736,820	L450P	probably damaging	Het
Eogt	G	A	6: 97,120,190	S317L	probably damaging	Het
Exosc10	T	A	4: 148,572,919	S584T	probably benign	Het
Fam184a	C	T	10: 53,699,061	V151I	probably damaging	Het
Fbxo43	A	G	15: 36,152,112	V517A	probably damaging	Het
Flii	T	C	11: 60,719,872	T533A	possibly damaging	Het
Frmpd1	T	G	4: 45,284,093	H971Q	probably benign	Het
Gata3	A	T	2: 9,863,143	N333K	probably damaging	Het
Hectd1	A	G	12: 51,768,730	S1525P	probably damaging	Het
Ibtk	A	G	9: 85,718,426	I816T	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Krt34	T	C	11: 100,040,965	T143A	probably benign	Het
Lipn	G	T	19: 34,069,428	M43I	probably benign	Het
Lrp1b	A	G	2: 41,445,194	C779R	probably damaging	Het
Mme	A	T	3: 63,362,059		probably benign	Het
Ncstn	A	G	1: 172,070,073	S418P	probably benign	Het
Olfr1209	T	C	2: 88,909,608	T262A	possibly damaging	Het
Olfr1285	T	C	2: 111,408,622	V69A	possibly damaging	Het
Olfr5	G	A	7: 6,481,132	A8V	probably benign	Het
Olfr800	C	T	10: 129,660,274	P156L	probably benign	Het
Olfr934	T	A	9: 38,982,870	Y58F	probably damaging	Het
Oprk1	T	A	1: 5,602,661	C340*	probably null	Het
Pald1	T	A	10: 61,347,487	N323Y	probably damaging	Het
Pcdhac1	C	A	18: 37,091,892	A586E	probably damaging	Het
Pcnx2	C	T	8: 125,888,158	A185T	probably benign	Het
Pik3r1	G	A	13: 101,684,957	H430Y	probably benign	Het
Polr3b	G	A	10: 84,720,518		probably null	Het
Prl8a6	A	T	13: 27,433,032	L225*	probably null	Het
Psme4	T	C	11: 30,856,068	S89P	probably damaging	Het
Pygl	G	A	12: 70,201,339	T250I	probably damaging	Het
Rgs13	T	A	1: 144,140,790	K72*	probably null	Het
Ryr2	T	A	13: 11,588,159	I4514F	probably damaging	Het
Sept3	A	T	15: 82,285,801	D32V	probably damaging	Het
Sfrp2	C	T	3: 83,767,028	P163S	possibly damaging	Het
Spata31	A	G	13: 64,920,931	T298A	probably benign	Het
Stxbp2	T	C	8: 3,633,369		probably null	Het
Syne1	A	T	10: 5,052,345	M282K	possibly damaging	Het
Timd2	T	C	11: 46,671,020		probably null	Het
Tlr11	G	A	14: 50,363,154	V866I	probably benign	Het
Trappc10	T	C	10: 78,220,186		probably null	Het
Zfp512b	AG	AGG	2: 181,588,763		probably null	Het

Other mutations in Mios

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Mios	APN	6	8234363	critical splice donor site	probably null
IGL01365:Mios	APN	6	8216089	nonsense	probably null
IGL01548:Mios	APN	6	8234252	missense	possibly damaging	0.90
IGL01898:Mios	APN	6	8222668	missense	probably benign	0.03
IGL02110:Mios	APN	6	8215565	missense	probably damaging	1.00
IGL02308:Mios	APN	6	8231269	missense	probably benign	0.06
IGL02375:Mios	APN	6	8222598	missense	probably benign	0.02
IGL02452:Mios	APN	6	8222492	missense	probably benign	0.01
IGL02670:Mios	APN	6	8235378	splice site	probably benign
IGL03083:Mios	APN	6	8215156	missense	probably damaging	1.00
R0462:Mios	UTSW	6	8215743	missense	probably benign	0.11
R0591:Mios	UTSW	6	8215470	missense	possibly damaging	0.52
R1351:Mios	UTSW	6	8228120	missense	possibly damaging	0.70
R1476:Mios	UTSW	6	8234237	missense	probably benign	0.01
R1802:Mios	UTSW	6	8216385	nonsense	probably null
R1959:Mios	UTSW	6	8215437	missense	probably benign	0.17
R1964:Mios	UTSW	6	8215798	missense	probably damaging	0.99
R2272:Mios	UTSW	6	8226865	missense	possibly damaging	0.71
R2915:Mios	UTSW	6	8214935	missense	possibly damaging	0.72
R3852:Mios	UTSW	6	8216453	missense	probably benign	0.09
R3948:Mios	UTSW	6	8215496	missense	probably benign
R4698:Mios	UTSW	6	8228113	missense	possibly damaging	0.60
R4785:Mios	UTSW	6	8222464	missense	probably benign
R4789:Mios	UTSW	6	8235429	missense	probably benign	0.06
R4866:Mios	UTSW	6	8214857	missense	probably damaging	1.00
R4878:Mios	UTSW	6	8215094	missense	probably benign	0.00
R4991:Mios	UTSW	6	8215847	missense	probably benign	0.00
R5479:Mios	UTSW	6	8215314	missense	probably benign	0.00
R5714:Mios	UTSW	6	8215434	missense	probably damaging	0.99
R6030:Mios	UTSW	6	8215704	missense	probably benign	0.11
R6030:Mios	UTSW	6	8215704	missense	probably benign	0.11
R6111:Mios	UTSW	6	8214836	missense	probably benign	0.01
R6455:Mios	UTSW	6	8231239	missense	probably benign	0.03
R7381:Mios	UTSW	6	8216064	missense	probably damaging	0.98
R8350:Mios	UTSW	6	8227998	missense	probably benign	0.00
R8708:Mios	UTSW	6	8234255	missense	probably benign	0.17
R8913:Mios	UTSW	6	8215924	missense	probably benign
R9062:Mios	UTSW	6	8233221	missense	probably benign	0.00
R9359:Mios	UTSW	6	8214894	missense	probably benign	0.17
R9521:Mios	UTSW	6	8233171	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- CCTAGTCAGATGGATTACTTTGCAATG -3'
(R):5'- TCTGAAATACCAGTAGGAGCCATG -3'

Sequencing Primer
(F):5'- CAGATGGATTACTTTGCAATGTAAAG -3'
(R):5'- TCAACTTTAAGTTAGCATCTGTGAG -3'

Posted On

2015-04-06