Mutagenetix > Incidental Mutation

Incidental Mutation 'R4698:Mios'

355829

Institutional Source

Beutler Lab

Gene Symbol

Mios

Ensembl Gene

ENSMUSG00000042447

Gene Name

meiosis regulator for oocyte development

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R4698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8209222-8236274 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8228113 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 677 (Y677H)

Ref Sequence

ENSEMBL: ENSMUSP00000039301 (fasta)

Gene Model

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

AlphaFold

Q8VE19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040017
AA Change: Y677H

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000039301
Gene: ENSMUSG00000042447
AA Change: Y677H

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	G	17: 48,038,240 (GRCm38)	V11A	possibly damaging	Het
6030452D12Rik	T	C	8: 106,504,347 (GRCm38)	I55T	unknown	Het
Aadacl2	A	G	3: 60,025,039 (GRCm38)	D325G	probably benign	Het
Adh1	A	G	3: 138,282,513 (GRCm38)	S113G	probably benign	Het
Agxt2	T	C	15: 10,392,044 (GRCm38)		probably null	Het
Aicda	C	T	6: 122,553,888 (GRCm38)		probably benign	Het
Aifm2	T	C	10: 61,727,756 (GRCm38)	M135T	probably benign	Het
Asah2	T	C	19: 32,054,471 (GRCm38)		probably null	Het
Btbd17	T	C	11: 114,791,717 (GRCm38)	R390G	probably damaging	Het
Cadps	T	C	14: 12,705,654 (GRCm38)	E247G	possibly damaging	Het
Cds2	T	C	2: 132,304,953 (GRCm38)	I383T	probably damaging	Het
Celf3	T	A	3: 94,484,867 (GRCm38)		probably null	Het
Crhr2	T	C	6: 55,102,867 (GRCm38)	S162G	possibly damaging	Het
Dapl1	A	T	2: 59,504,774 (GRCm38)	K91*	probably null	Het
Ddx60	A	C	8: 62,012,424 (GRCm38)	M1372L	probably benign	Het
Dnah2	A	T	11: 69,498,532 (GRCm38)	F845I	probably damaging	Het
Dscam	T	C	16: 96,610,324 (GRCm38)	D1784G	probably damaging	Het
Ech1	T	C	7: 28,832,053 (GRCm38)	V310A	probably benign	Het
Eef1g	A	G	19: 8,977,966 (GRCm38)	D393G	possibly damaging	Het
Eif3k	T	C	7: 28,972,544 (GRCm38)	I172V	possibly damaging	Het
Foxd4	A	G	19: 24,900,261 (GRCm38)	F192L	probably damaging	Het
Gpr153	T	A	4: 152,281,783 (GRCm38)	S268R	probably damaging	Het
Hist2h3b	C	A	3: 96,269,078 (GRCm38)	R129S	probably damaging	Het
Ivl	T	C	3: 92,571,391 (GRCm38)	K456E	unknown	Het
Kif20b	A	T	19: 34,951,544 (GRCm38)	D1190V	probably damaging	Het
Kif21a	T	A	15: 90,956,305 (GRCm38)	I1223L	possibly damaging	Het
Lmf1	T	C	17: 25,579,350 (GRCm38)	V55A	probably damaging	Het
Loxhd1	A	G	18: 77,372,291 (GRCm38)	E659G	possibly damaging	Het
Lrrc37a	T	C	11: 103,504,104 (GRCm38)	E165G	possibly damaging	Het
Mnx1	T	A	5: 29,474,059 (GRCm38)	K342M	unknown	Het
Mtpap	A	T	18: 4,375,724 (GRCm38)	T35S	possibly damaging	Het
Ndc1	C	G	4: 107,411,137 (GRCm38)	D623E	probably benign	Het
Nedd4l	A	G	18: 65,203,880 (GRCm38)	Y666C	probably damaging	Het
Olfr1022	A	G	2: 85,869,252 (GRCm38)	Y220C	possibly damaging	Het
Olfr1445	T	G	19: 12,884,621 (GRCm38)	F247V	probably benign	Het
Olfr204	T	C	16: 59,315,357 (GRCm38)	T17A	probably damaging	Het
Olfr605	T	A	7: 103,442,635 (GRCm38)	I163F	possibly damaging	Het
Papss1	G	T	3: 131,607,331 (GRCm38)	V369F	probably damaging	Het
Pcdhac2	T	A	18: 37,145,769 (GRCm38)	Y601N	probably damaging	Het
Pde7a	C	T	3: 19,310,931 (GRCm38)	R24Q	probably damaging	Het
Phf21a	A	G	2: 92,356,952 (GRCm38)	D445G	probably damaging	Het
Plekho1	T	A	3: 95,995,652 (GRCm38)	N15I	possibly damaging	Het
Pprc1	T	C	19: 46,069,195 (GRCm38)		probably benign	Het
Ralgapa1	A	T	12: 55,677,276 (GRCm38)		probably null	Het
Rrp12	T	C	19: 41,873,042 (GRCm38)	E942G	probably benign	Het
Skor1	T	C	9: 63,144,548 (GRCm38)	D685G	probably benign	Het
Smim23	A	T	11: 32,824,510 (GRCm38)	I3N	possibly damaging	Het
Spata7	A	T	12: 98,664,277 (GRCm38)	I333F	probably damaging	Het
Sppl2c	T	C	11: 104,188,315 (GRCm38)	I647T	probably benign	Het
Srgap1	C	A	10: 121,792,487 (GRCm38)	R837L	probably benign	Het
Stpg2	C	A	3: 139,309,229 (GRCm38)	P385H	probably damaging	Het
Tmem238	C	A	7: 4,789,017 (GRCm38)	E19*	probably null	Het
Top2b	A	T	14: 16,387,331 (GRCm38)	K140*	probably null	Het
Trp53	T	A	11: 69,588,422 (GRCm38)	L142*	probably null	Het
Tyro3	A	T	2: 119,803,270 (GRCm38)	D133V	probably damaging	Het
Virma	T	A	4: 11,528,636 (GRCm38)	I1291N	probably damaging	Het
Vmn1r213	A	G	13: 23,011,337 (GRCm38)		probably benign	Het
Zbtb10	T	C	3: 9,264,550 (GRCm38)	S323P	possibly damaging	Het
Zfp521	A	T	18: 13,845,603 (GRCm38)	N584K	probably damaging	Het
Zfp944	A	G	17: 22,339,199 (GRCm38)	C356R	probably damaging	Het

Other mutations in Mios

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Mios	APN	6	8,234,363 (GRCm38)	critical splice donor site	probably null
IGL01365:Mios	APN	6	8,216,089 (GRCm38)	nonsense	probably null
IGL01548:Mios	APN	6	8,234,252 (GRCm38)	missense	possibly damaging	0.90
IGL01898:Mios	APN	6	8,222,668 (GRCm38)	missense	probably benign	0.03
IGL02110:Mios	APN	6	8,215,565 (GRCm38)	missense	probably damaging	1.00
IGL02308:Mios	APN	6	8,231,269 (GRCm38)	missense	probably benign	0.06
IGL02375:Mios	APN	6	8,222,598 (GRCm38)	missense	probably benign	0.02
IGL02452:Mios	APN	6	8,222,492 (GRCm38)	missense	probably benign	0.01
IGL02670:Mios	APN	6	8,235,378 (GRCm38)	splice site	probably benign
IGL03083:Mios	APN	6	8,215,156 (GRCm38)	missense	probably damaging	1.00
R0462:Mios	UTSW	6	8,215,743 (GRCm38)	missense	probably benign	0.11
R0591:Mios	UTSW	6	8,215,470 (GRCm38)	missense	possibly damaging	0.52
R1351:Mios	UTSW	6	8,228,120 (GRCm38)	missense	possibly damaging	0.70
R1476:Mios	UTSW	6	8,234,237 (GRCm38)	missense	probably benign	0.01
R1802:Mios	UTSW	6	8,216,385 (GRCm38)	nonsense	probably null
R1959:Mios	UTSW	6	8,215,437 (GRCm38)	missense	probably benign	0.17
R1964:Mios	UTSW	6	8,215,798 (GRCm38)	missense	probably damaging	0.99
R2272:Mios	UTSW	6	8,226,865 (GRCm38)	missense	possibly damaging	0.71
R2915:Mios	UTSW	6	8,214,935 (GRCm38)	missense	possibly damaging	0.72
R3852:Mios	UTSW	6	8,216,453 (GRCm38)	missense	probably benign	0.09
R3876:Mios	UTSW	6	8,233,189 (GRCm38)	missense	probably damaging	0.98
R3948:Mios	UTSW	6	8,215,496 (GRCm38)	missense	probably benign
R4785:Mios	UTSW	6	8,222,464 (GRCm38)	missense	probably benign
R4789:Mios	UTSW	6	8,235,429 (GRCm38)	missense	probably benign	0.06
R4866:Mios	UTSW	6	8,214,857 (GRCm38)	missense	probably damaging	1.00
R4878:Mios	UTSW	6	8,215,094 (GRCm38)	missense	probably benign	0.00
R4991:Mios	UTSW	6	8,215,847 (GRCm38)	missense	probably benign	0.00
R5479:Mios	UTSW	6	8,215,314 (GRCm38)	missense	probably benign	0.00
R5714:Mios	UTSW	6	8,215,434 (GRCm38)	missense	probably damaging	0.99
R6030:Mios	UTSW	6	8,215,704 (GRCm38)	missense	probably benign	0.11
R6030:Mios	UTSW	6	8,215,704 (GRCm38)	missense	probably benign	0.11
R6111:Mios	UTSW	6	8,214,836 (GRCm38)	missense	probably benign	0.01
R6455:Mios	UTSW	6	8,231,239 (GRCm38)	missense	probably benign	0.03
R7381:Mios	UTSW	6	8,216,064 (GRCm38)	missense	probably damaging	0.98
R8350:Mios	UTSW	6	8,227,998 (GRCm38)	missense	probably benign	0.00
R8708:Mios	UTSW	6	8,234,255 (GRCm38)	missense	probably benign	0.17
R8913:Mios	UTSW	6	8,215,924 (GRCm38)	missense	probably benign
R9062:Mios	UTSW	6	8,233,221 (GRCm38)	missense	probably benign	0.00
R9359:Mios	UTSW	6	8,214,894 (GRCm38)	missense	probably benign	0.17
R9521:Mios	UTSW	6	8,233,171 (GRCm38)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- GGCAAGGGATTTTGACTTAAAATG -3'
(R):5'- GCAAATGACGTGATTAGGGC -3'

Sequencing Primer
(F):5'- GAAACAGATTGTATCGAAAAACTCAC -3'
(R):5'- TGACGTGATTAGGGCCAGTAAG -3'

Posted On

2015-10-21