Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01365:Mios'

75909

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mios

Ensembl Gene

ENSMUSG00000042447

Gene Name

meiosis regulator for oocyte development

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.947) question?

Stock #

IGL01365

Quality Score

Status

Chromosome

Chromosomal Location

8209222-8236274 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 8216089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 428 (Y428*)

Ref Sequence

ENSEMBL: ENSMUSP00000039301 (fasta)

Gene Model

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

AlphaFold

Q8VE19

Predicted Effect

probably null
Transcript: ENSMUST00000040017
AA Change: Y428*

SMART Domains

Protein: ENSMUSP00000039301
Gene: ENSMUSG00000042447
AA Change: Y428*

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	G	T	8: 83,723,889		probably null	Het
Agtr1a	A	G	13: 30,381,828	Y292C	probably damaging	Het
Btbd11	T	C	10: 85,633,816	V867A	possibly damaging	Het
CK137956	A	G	4: 127,951,342	S203P	probably benign	Het
Cnbd1	C	T	4: 18,860,576	G390D	probably damaging	Het
Cttnbp2nl	T	C	3: 105,005,030	T513A	probably damaging	Het
Dppa2	A	G	16: 48,313,913	K67R	possibly damaging	Het
Kif3a	A	G	11: 53,593,523	K486E	possibly damaging	Het
Lmnb2	G	T	10: 80,904,984	Q151K	probably benign	Het
Lmtk3	T	A	7: 45,790,907	L223Q	probably damaging	Het
Lrrk1	A	G	7: 66,287,701	I901T	probably damaging	Het
Macf1	T	C	4: 123,391,169	Y3624C	probably damaging	Het
Myb	A	G	10: 21,152,502	I154T	probably benign	Het
Olfr294	T	C	7: 86,615,997	Y216C	probably damaging	Het
Parp9	C	T	16: 35,947,954	T168I	possibly damaging	Het
Pramel7	T	C	2: 87,491,413		probably benign	Het
Ptar1	T	A	19: 23,705,801	W140R	probably damaging	Het
Sec14l2	G	T	11: 4,098,317	D400E	probably benign	Het
Setd3	A	T	12: 108,157,906	Y175N	probably damaging	Het
Slc5a8	C	T	10: 88,892,097		probably benign	Het
Slc8a3	A	G	12: 81,315,376	V223A	probably damaging	Het
Srsf1	G	T	11: 88,049,181	R173L	possibly damaging	Het
Svep1	T	A	4: 58,100,878		probably null	Het
Tead2	T	A	7: 45,217,251	D11E	probably damaging	Het
Trappc12	T	A	12: 28,747,402	I44F	probably damaging	Het
Ttll9	T	C	2: 153,000,134	Y303H	possibly damaging	Het
Vmn1r28	T	A	6: 58,265,191	N6K	possibly 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
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
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
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

Posted On

2013-10-07