Mutagenetix > Incidental Mutations

Incidental Mutation 'R1802:Mios'

203207

Institutional Source

Beutler Lab

Gene Symbol

Mios

Ensembl Gene

ENSMUSG00000042447

Gene Name

meiosis regulator for oocyte development

Synonyms

MMRRC Submission

039832-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R1802 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8209222-8236274 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 8216385 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 436 (Y436*)

Ref Sequence

ENSEMBL: ENSMUSP00000039301 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000040017
AA Change: Y436*

SMART Domains

Protein: ENSMUSP00000039301
Gene: ENSMUSG00000042447
AA Change: Y436*

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	T	A	11: 101,988,476	Y25N	possibly damaging	Het
Abcd2	G	T	15: 91,163,102	R583S	probably benign	Het
Ago2	A	T	15: 73,121,180	F492Y	probably damaging	Het
Ano4	T	A	10: 88,981,016	D610V	probably damaging	Het
Atp6v0d2	A	G	4: 19,922,366		probably null	Het
Atxn7	T	G	14: 14,089,419	S312A	probably benign	Het
Azgp1	A	G	5: 137,985,231	Y56C	probably damaging	Het
Bcan	A	G	3: 87,993,108	V606A	possibly damaging	Het
Btnl9	T	A	11: 49,175,790	I335F	probably benign	Het
Ccdc63	T	C	5: 122,129,877	R9G	probably damaging	Het
Cdyl	T	A	13: 35,872,636	L534*	probably null	Het
Celf2	T	C	2: 6,549,933	E445G	probably damaging	Het
Cnot8	T	C	11: 58,117,535	C276R	probably benign	Het
Dock4	A	G	12: 40,794,598	I1135V	possibly damaging	Het
Edc3	A	G	9: 57,727,315	D205G	probably damaging	Het
Emilin1	C	T	5: 30,917,738	P441L	possibly damaging	Het
Fancl	T	G	11: 26,459,709	S188R	probably benign	Het
Fbn2	T	A	18: 58,052,976	K1767*	probably null	Het
Glrb	A	T	3: 80,861,957	H154Q	probably damaging	Het
Gm19965	C	T	1: 116,820,903	R105*	probably null	Het
Grhpr	C	A	4: 44,988,950	Y202*	probably null	Het
Herc2	A	G	7: 56,184,332	E3095G	probably damaging	Het
Il22ra2	A	T	10: 19,626,699	N89Y	probably damaging	Het
Itgb6	T	C	2: 60,653,281	D261G	probably benign	Het
Jmjd7	C	T	2: 120,030,108	L39F	probably damaging	Het
Kif1a	T	A	1: 93,066,149	I360F	probably damaging	Het
Kmt2d	T	C	15: 98,862,985	Q828R	unknown	Het
March10	C	A	11: 105,389,915	A515S	probably benign	Het
Mprip	C	T	11: 59,755,041	L684F	probably damaging	Het
Mybpc2	T	A	7: 44,512,470	N519Y	possibly damaging	Het
Naga	C	T	15: 82,337,468	R24Q	probably benign	Het
Nr2c1	G	A	10: 94,163,786	V103M	possibly damaging	Het
Oca2	A	G	7: 56,254,980	S65G	possibly damaging	Het
Olfr1299	G	T	2: 111,664,754	S176I	probably damaging	Het
Olfr598	A	G	7: 103,328,647	I54V	probably benign	Het
Phyhipl	A	T	10: 70,599,025	I28N	probably benign	Het
Pifo	T	A	3: 106,014,550	Q19L	possibly damaging	Het
Pik3cb	C	A	9: 99,101,289	E89*	probably null	Het
Plekhm2	A	T	4: 141,634,347	S262T	probably benign	Het
Ppm1a	T	A	12: 72,793,707		probably null	Het
Relt	T	C	7: 100,850,194	I173V	probably damaging	Het
Rfx7	T	A	9: 72,619,637	S1370T	possibly damaging	Het
Rps7	G	A	12: 28,634,259	R81C	probably benign	Het
Saa3	T	C	7: 46,712,126	*123W	probably null	Het
Serpina3b	C	A	12: 104,138,637	H357Q	probably damaging	Het
Slc9c1	T	A	16: 45,558,281	N493K	probably benign	Het
Spata31	T	C	13: 64,922,383	Y782H	probably benign	Het
Tfap2a	T	C	13: 40,725,170	D166G	probably damaging	Het
Thada	A	T	17: 84,464,407	M9K	probably benign	Het
Tmem269	A	T	4: 119,210,873		probably null	Het
Tnxb	C	A	17: 34,703,889	P2482Q	probably damaging	Het
Vit	T	C	17: 78,605,511	V291A	possibly damaging	Het
Zfp930	G	T	8: 69,226,394	A18S	possibly damaging	Het
Zufsp	A	T	10: 33,943,718	V200D	probably damaging	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
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
R3876:Mios	UTSW	6	8233189	missense	probably damaging	0.98
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

Predicted Primers

PCR Primer
(F):5'- AGGCAAATTGGGTAGCATGC -3'
(R):5'- TGACATTTCTGTACAGTCCTGAAC -3'

Sequencing Primer
(F):5'- GCAAATTGGGTAGCATGCTAAATG -3'
(R):5'- GGAATTTTCTTACCCAAAGATG -3'

Posted On

2014-06-23