Mutagenetix > Incidental Mutation

Incidental Mutation 'R6455:Mios'

519533

Institutional Source

Beutler Lab

Gene Symbol

Mios

Ensembl Gene

ENSMUSG00000042447

Gene Name

meiosis regulator for oocyte development

Synonyms

MMRRC Submission

044591-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R6455 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8209222-8236274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8231239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 708 (R708G)

Ref Sequence

ENSEMBL: ENSMUSP00000039301 (fasta)

Gene Model

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

AlphaFold

Q8VE19

Predicted Effect

probably benign
Transcript: ENSMUST00000040017
AA Change: R708G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000039301
Gene: ENSMUSG00000042447
AA Change: R708G

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,042,376 (GRCm39)	R1899G	probably damaging	Het
Abca6	C	T	11: 110,132,407 (GRCm39)	G296D	probably damaging	Het
Abcb5	A	T	12: 118,854,284 (GRCm39)		probably null	Het
Adam28	T	G	14: 68,870,657 (GRCm39)	T339P	probably damaging	Het
Adam34l	T	A	8: 44,079,189 (GRCm39)	H345L	probably damaging	Het
Adcy10	C	G	1: 165,345,943 (GRCm39)	Q331E	probably damaging	Het
Aldh1a2	A	T	9: 71,160,196 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,673,639 (GRCm39)	I3078N	probably damaging	Het
Amtn	A	T	5: 88,528,139 (GRCm39)	N71Y	probably damaging	Het
Arhgef18	A	T	8: 3,438,753 (GRCm39)	Y370F	probably benign	Het
Arid4a	T	C	12: 71,121,862 (GRCm39)	S748P	probably benign	Het
Atp2b1	C	A	10: 98,852,842 (GRCm39)	Q108K	possibly damaging	Het
Bcdin3d	T	C	15: 99,368,830 (GRCm39)	D123G	probably benign	Het
Capn15	A	G	17: 26,184,410 (GRCm39)	S24P	probably damaging	Het
Cc2d2a	T	A	5: 43,896,754 (GRCm39)	S1550R	possibly damaging	Het
Ccdc7a	C	T	8: 129,559,091 (GRCm39)	V1174M	probably damaging	Het
Cd22	T	A	7: 30,575,578 (GRCm39)	I155F	probably damaging	Het
Ceacam3	T	C	7: 16,895,863 (GRCm39)	I611T	possibly damaging	Het
Chrna1	C	T	2: 73,397,180 (GRCm39)	D370N	possibly damaging	Het
Dlg2	C	A	7: 92,093,716 (GRCm39)		probably null	Het
Dll4	A	T	2: 119,164,276 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,058,108 (GRCm39)	S137P	probably benign	Het
Epn2	A	T	11: 61,424,467 (GRCm39)	M250K	probably damaging	Het
Fat2	T	A	11: 55,161,283 (GRCm39)	Q3149L	probably damaging	Het
Fbxl13	G	A	5: 21,761,812 (GRCm39)	S341F	probably benign	Het
Gm5141	A	T	13: 62,922,597 (GRCm39)	C191S	probably damaging	Het
Gm5150	C	T	3: 16,044,815 (GRCm39)	G137S	probably damaging	Het
Gpr75	C	T	11: 30,841,529 (GRCm39)	R145W	probably damaging	Het
Heatr5b	G	A	17: 79,060,502 (GRCm39)	H2058Y	probably benign	Het
Ina	G	A	19: 47,012,000 (GRCm39)	E473K	probably benign	Het
Irx6	T	C	8: 93,402,700 (GRCm39)	S22P	probably benign	Het
Itpr1	T	A	6: 108,394,933 (GRCm39)	M32K	probably damaging	Het
Jmjd1c	T	A	10: 67,061,795 (GRCm39)	S1383T	probably benign	Het
Lclat1	T	A	17: 73,468,828 (GRCm39)	S3T	probably damaging	Het
Llgl1	G	A	11: 60,600,486 (GRCm39)	V612M	probably damaging	Het
Mphosph8	T	C	14: 56,925,943 (GRCm39)	L636P	probably damaging	Het
Mrgpra2b	T	A	7: 47,113,893 (GRCm39)	N254Y	probably damaging	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Myog	G	A	1: 134,218,226 (GRCm39)	D145N	probably benign	Het
Nat10	T	A	2: 103,570,231 (GRCm39)	I371F	possibly damaging	Het
Neb	A	T	2: 52,057,656 (GRCm39)	Y229*	probably null	Het
Nlrp6	T	A	7: 140,507,422 (GRCm39)	I896K	possibly damaging	Het
Or11g7	A	T	14: 50,691,042 (GRCm39)	I178L	possibly damaging	Het
Or52p2	G	A	7: 102,237,878 (GRCm39)	A24V	probably benign	Het
Or5an11	T	C	19: 12,246,070 (GRCm39)	S159P	probably damaging	Het
Pate5	T	A	9: 35,755,351 (GRCm39)	K3*	probably null	Het
Pcdhgc5	A	C	18: 37,954,301 (GRCm39)	E525A	probably damaging	Het
Pira1	T	A	7: 3,741,930 (GRCm39)	Y150F	probably benign	Het
Pkd2	C	A	5: 104,607,790 (GRCm39)	D96E	probably benign	Het
Prtg	A	G	9: 72,815,138 (GRCm39)	D1022G	probably damaging	Het
Ptpn13	T	C	5: 103,689,150 (GRCm39)	M981T	probably benign	Het
Rc3h2	C	A	2: 37,299,482 (GRCm39)	A183S	probably damaging	Het
Rorb	A	T	19: 18,937,856 (GRCm39)	I270N	probably damaging	Het
Rpgrip1	C	T	14: 52,378,646 (GRCm39)	R524W	probably damaging	Het
Slc25a10	T	C	11: 120,386,031 (GRCm39)	V124A	probably damaging	Het
Slc40a1	T	A	1: 45,958,107 (GRCm39)	I109F	probably damaging	Het
Spen	G	A	4: 141,202,820 (GRCm39)	R1936W	probably damaging	Het
St6gal2	T	A	17: 55,789,514 (GRCm39)	Y183N	probably benign	Het
Svil	A	G	18: 5,056,629 (GRCm39)	K588E	possibly damaging	Het
Tas2r122	C	T	6: 132,688,626 (GRCm39)	W89*	probably null	Het
Tbxas1	T	A	6: 38,929,079 (GRCm39)		probably benign	Het
Tia1	T	A	6: 86,397,360 (GRCm39)	I111N	probably damaging	Het
Tlr9	T	A	9: 106,101,198 (GRCm39)	L163H	probably damaging	Het
Tnn	C	T	1: 159,942,289 (GRCm39)	V806M	probably damaging	Het
Traf5	G	A	1: 191,731,887 (GRCm39)	A318V	probably benign	Het
Ttc3	T	A	16: 94,219,482 (GRCm39)	M1K	probably null	Het
Utp25	G	T	1: 192,810,684 (GRCm39)	D106E	probably benign	Het
Vmn1r192	T	A	13: 22,372,000 (GRCm39)	R73S	probably benign	Het
Vmn1r71	T	C	7: 10,482,331 (GRCm39)	Y53C	probably benign	Het
Vmn2r34	T	A	7: 7,686,582 (GRCm39)	N372Y	probably damaging	Het
Wbp2	A	T	11: 115,970,579 (GRCm39)	S229R	probably damaging	Het
Wdr18	C	T	10: 79,801,115 (GRCm39)	T176I	probably damaging	Het

Other mutations in Mios

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Mios	APN	6	8,234,363 (GRCm39)	critical splice donor site	probably null
IGL01365:Mios	APN	6	8,216,089 (GRCm39)	nonsense	probably null
IGL01548:Mios	APN	6	8,234,252 (GRCm39)	missense	possibly damaging	0.90
IGL01898:Mios	APN	6	8,222,668 (GRCm39)	missense	probably benign	0.03
IGL02110:Mios	APN	6	8,215,565 (GRCm39)	missense	probably damaging	1.00
IGL02308:Mios	APN	6	8,231,269 (GRCm39)	missense	probably benign	0.06
IGL02375:Mios	APN	6	8,222,598 (GRCm39)	missense	probably benign	0.02
IGL02452:Mios	APN	6	8,222,492 (GRCm39)	missense	probably benign	0.01
IGL02670:Mios	APN	6	8,235,378 (GRCm39)	splice site	probably benign
IGL03083:Mios	APN	6	8,215,156 (GRCm39)	missense	probably damaging	1.00
R0462:Mios	UTSW	6	8,215,743 (GRCm39)	missense	probably benign	0.11
R0591:Mios	UTSW	6	8,215,470 (GRCm39)	missense	possibly damaging	0.52
R1351:Mios	UTSW	6	8,228,120 (GRCm39)	missense	possibly damaging	0.70
R1476:Mios	UTSW	6	8,234,237 (GRCm39)	missense	probably benign	0.01
R1802:Mios	UTSW	6	8,216,385 (GRCm39)	nonsense	probably null
R1959:Mios	UTSW	6	8,215,437 (GRCm39)	missense	probably benign	0.17
R1964:Mios	UTSW	6	8,215,798 (GRCm39)	missense	probably damaging	0.99
R2272:Mios	UTSW	6	8,226,865 (GRCm39)	missense	possibly damaging	0.71
R2915:Mios	UTSW	6	8,214,935 (GRCm39)	missense	possibly damaging	0.72
R3852:Mios	UTSW	6	8,216,453 (GRCm39)	missense	probably benign	0.09
R3876:Mios	UTSW	6	8,233,189 (GRCm39)	missense	probably damaging	0.98
R3948:Mios	UTSW	6	8,215,496 (GRCm39)	missense	probably benign
R4698:Mios	UTSW	6	8,228,113 (GRCm39)	missense	possibly damaging	0.60
R4785:Mios	UTSW	6	8,222,464 (GRCm39)	missense	probably benign
R4789:Mios	UTSW	6	8,235,429 (GRCm39)	missense	probably benign	0.06
R4866:Mios	UTSW	6	8,214,857 (GRCm39)	missense	probably damaging	1.00
R4878:Mios	UTSW	6	8,215,094 (GRCm39)	missense	probably benign	0.00
R4991:Mios	UTSW	6	8,215,847 (GRCm39)	missense	probably benign	0.00
R5479:Mios	UTSW	6	8,215,314 (GRCm39)	missense	probably benign	0.00
R5714:Mios	UTSW	6	8,215,434 (GRCm39)	missense	probably damaging	0.99
R6030:Mios	UTSW	6	8,215,704 (GRCm39)	missense	probably benign	0.11
R6030:Mios	UTSW	6	8,215,704 (GRCm39)	missense	probably benign	0.11
R6111:Mios	UTSW	6	8,214,836 (GRCm39)	missense	probably benign	0.01
R7381:Mios	UTSW	6	8,216,064 (GRCm39)	missense	probably damaging	0.98
R8350:Mios	UTSW	6	8,227,998 (GRCm39)	missense	probably benign	0.00
R8708:Mios	UTSW	6	8,234,255 (GRCm39)	missense	probably benign	0.17
R8913:Mios	UTSW	6	8,215,924 (GRCm39)	missense	probably benign
R9062:Mios	UTSW	6	8,233,221 (GRCm39)	missense	probably benign	0.00
R9359:Mios	UTSW	6	8,214,894 (GRCm39)	missense	probably benign	0.17
R9521:Mios	UTSW	6	8,233,171 (GRCm39)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- GATTCGCCAGGCTTTCATTG -3'
(R):5'- AGATCATCTGGGCCTGCTATC -3'

Sequencing Primer
(F):5'- GTTTCTAGCCAGAATCCTCTC -3'
(R):5'- ATCTGGGCCTGCTATCCTTTG -3'

Posted On

2018-05-24