Mutagenetix > Incidental Mutation

Incidental Mutation 'R2915:Mios'

254838

Institutional Source

Beutler Lab

Gene Symbol

Mios

Ensembl Gene

ENSMUSG00000042447

Gene Name

meiosis regulator for oocyte development

Synonyms

MMRRC Submission

040502-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R2915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8209222-8236274 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 8214935 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 44 (R44C)

Ref Sequence

ENSEMBL: ENSMUSP00000039301 (fasta)

Gene Model

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

AlphaFold

Q8VE19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040017
AA Change: R44C

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000039301
Gene: ENSMUSG00000042447
AA Change: R44C

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

Meta Mutation Damage Score

0.3804

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Arhgap11a	A	G	2: 113,833,508	V810A	probably damaging	Het
B3gnt6	T	C	7: 98,193,593	N387D	probably benign	Het
Col5a2	C	G	1: 45,413,496	G358R	probably damaging	Het
Cracr2a	A	G	6: 127,611,505	K209R	probably damaging	Het
Dmkn	A	G	7: 30,765,316	N32S	unknown	Het
Dusp13	T	A	14: 21,740,137	N47I	probably damaging	Het
Elmo2	A	G	2: 165,297,653		probably benign	Het
Ephb6	T	C	6: 41,614,238	F110L	probably damaging	Het
Gabrb2	T	A	11: 42,591,907	N197K	probably benign	Het
Gdnf	T	A	15: 7,815,649	V41E	possibly damaging	Het
Gm21915	A	G	9: 40,670,787	I59V	possibly damaging	Het
Gprin2	C	T	14: 34,195,081	G244D	possibly damaging	Het
Grin2d	T	C	7: 45,833,357		probably benign	Het
Ice2	A	G	9: 69,410,840	D241G	probably benign	Het
Nlrp5-ps	T	C	7: 14,586,711		noncoding transcript	Het
Nyap2	C	T	1: 81,087,471	R67*	probably null	Het
Olfr1031	T	A	2: 85,992,045	V76E	probably damaging	Het
Olfr1094	T	C	2: 86,829,226	I158T	probably benign	Het
Olfr1306	G	T	2: 111,912,719	D70E	probably damaging	Het
Olfr1428	G	A	19: 12,108,625	P81L	probably benign	Het
Olfr27	G	T	9: 39,144,466	R122L	possibly damaging	Het
Otop2	G	A	11: 115,329,146	A271T	probably benign	Het
Otulin	A	G	15: 27,619,630		probably benign	Het
Pax1	A	G	2: 147,368,428	Y361C	probably damaging	Het
Pcdhb12	A	T	18: 37,437,640	N613I	probably damaging	Het
Plekha5	A	G	6: 140,589,199	K173E	probably damaging	Het
Plin4	T	A	17: 56,104,389	T881S	probably damaging	Het
Poli	A	G	18: 70,522,700		probably null	Het
Prex2	T	A	1: 11,169,853	F898I	probably damaging	Het
Prr14l	A	T	5: 32,829,768	H794Q	probably benign	Het
Prss1	A	T	6: 41,462,611	I93F	probably benign	Het
Ptpro	C	T	6: 137,414,241		probably benign	Het
Rad1	T	C	15: 10,486,642	C42R	probably damaging	Het
Rnf20	A	G	4: 49,638,769	E197G	probably benign	Het
Setx	A	G	2: 29,172,324	E2260G	probably damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Six2	A	G	17: 85,685,188	S296P	probably damaging	Het
Smg1	T	A	7: 118,210,879		probably benign	Het
Spred2	T	C	11: 19,998,215	V41A	probably damaging	Het
Ssu2	A	T	6: 112,377,605	C219*	probably null	Het
Tbc1d9b	T	A	11: 50,149,736	V360D	possibly damaging	Het
Tdrd9	G	A	12: 112,040,461	D920N	probably damaging	Het
Tyrp1	A	G	4: 80,837,455	T154A	possibly damaging	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Wac	A	C	18: 7,926,131	M596L	possibly damaging	Het
Zfhx2	G	T	14: 55,064,557	P1990Q	probably damaging	Het
Zfp853	T	C	5: 143,289,577	E96G	unknown	Het
Zzef1	G	A	11: 72,910,326		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
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
R9521:Mios	UTSW	6	8233171	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- ACTTTTAGTGAATGGACCTGACTG -3'
(R):5'- TATTGCATTGGCGAGCATGC -3'

Sequencing Primer
(F):5'- GGACCTGACTGGACTTTTTAAGCC -3'
(R):5'- GCGAGCATGCTTTGGAAC -3'

Posted On

2014-12-29