Mutagenetix > Incidental Mutation

Incidental Mutation 'R4991:Mios'

386186

Institutional Source

Beutler Lab

Gene Symbol

Mios

Ensembl Gene

ENSMUSG00000042447

Gene Name

meiosis regulator for oocyte development

Synonyms

MMRRC Submission

042585-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R4991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8209222-8236274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 8215847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 348 (S348A)

Ref Sequence

ENSEMBL: ENSMUSP00000039301 (fasta)

Gene Model

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

AlphaFold

Q8VE19

Predicted Effect

probably benign
Transcript: ENSMUST00000040017
AA Change: S348A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000039301
Gene: ENSMUSG00000042447
AA Change: S348A

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

0.0617

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.0%

Validation Efficiency

95% (73/77)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	G	T	14: 56,010,922 (GRCm39)	T665K	probably benign	Het
Adgrf3	C	T	5: 30,404,146 (GRCm39)	V369M	probably benign	Het
Als2	T	C	1: 59,246,927 (GRCm39)	K571E	probably benign	Het
Amer3	A	C	1: 34,627,822 (GRCm39)	D687A	probably benign	Het
Asb14	T	C	14: 26,637,015 (GRCm39)	S586P	probably damaging	Het
Catspere2	A	C	1: 177,925,987 (GRCm39)	I218L	probably benign	Het
Chmp4b	A	G	2: 154,534,545 (GRCm39)	E187G	probably benign	Het
Cox6b2	T	C	7: 4,755,160 (GRCm39)	D38G	probably damaging	Het
Cpm	G	A	10: 117,504,008 (GRCm39)	C138Y	probably damaging	Het
Csmd3	G	T	15: 47,864,874 (GRCm39)	P785Q	probably damaging	Het
Cstf1	A	G	2: 172,219,720 (GRCm39)	Y277C	probably damaging	Het
Cstf2t	T	A	19: 31,061,983 (GRCm39)	N506K	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Ebf2	A	T	14: 67,627,106 (GRCm39)	T265S	possibly damaging	Het
Elmo1	T	C	13: 20,526,689 (GRCm39)	F413S	probably damaging	Het
Fbp1	C	T	13: 63,012,888 (GRCm39)	V102I	probably benign	Het
Gm19684	A	G	17: 36,438,364 (GRCm39)		probably benign	Het
Gm29106	T	C	1: 118,106,121 (GRCm39)	M37T	probably benign	Het
Grem2	A	G	1: 174,664,379 (GRCm39)	C157R	probably damaging	Het
Hdac5	T	A	11: 102,096,450 (GRCm39)	E252D	probably damaging	Het
Ifitm3	A	T	7: 140,590,372 (GRCm39)	F63I	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Irx4	G	T	13: 73,413,626 (GRCm39)	R32L	probably benign	Het
Itgb1bp1	C	T	12: 21,324,849 (GRCm39)	G69D	probably damaging	Het
Kcnh3	A	G	15: 99,130,637 (GRCm39)	D418G	probably benign	Het
Kif1a	T	C	1: 93,006,530 (GRCm39)	T46A	probably benign	Het
Klk1b26	T	A	7: 43,665,673 (GRCm39)		probably null	Het
Lca5l	T	C	16: 95,960,932 (GRCm39)	E510G	possibly damaging	Het
Lrriq1	A	G	10: 103,036,420 (GRCm39)	I911T	probably damaging	Het
Mog	T	C	17: 37,328,381 (GRCm39)		probably null	Het
Mtmr7	A	G	8: 41,007,386 (GRCm39)	S516P	probably damaging	Het
Nat8f4	T	C	6: 85,878,122 (GRCm39)	K134E	probably benign	Het
Nbeal2	C	T	9: 110,467,835 (GRCm39)	C451Y	probably damaging	Het
Nkx2-1	T	C	12: 56,581,724 (GRCm39)	Y41C	possibly damaging	Het
Nmnat1	G	A	4: 149,553,584 (GRCm39)	T176M	possibly damaging	Het
Nrxn3	T	A	12: 89,227,244 (GRCm39)	I293N	probably damaging	Het
Or5af2	T	C	11: 58,708,544 (GRCm39)	S237P	probably damaging	Het
Or5b97	T	G	19: 12,878,815 (GRCm39)	T110P	probably damaging	Het
Or5m8	A	G	2: 85,822,631 (GRCm39)	M157V	probably damaging	Het
Osgin1	A	G	8: 120,172,028 (GRCm39)	E274G	probably damaging	Het
Otof	G	A	5: 30,551,525 (GRCm39)	R343W	probably damaging	Het
Pcdha9	A	T	18: 37,131,398 (GRCm39)	I156F	probably damaging	Het
Pcsk4	A	G	10: 80,161,215 (GRCm39)	I233T	possibly damaging	Het
Pira12	T	G	7: 3,898,571 (GRCm39)	Q292H	probably benign	Het
Samd4	A	T	14: 47,311,467 (GRCm39)	S262C	probably damaging	Het
Snap91	T	C	9: 86,672,207 (GRCm39)		probably null	Het
Spata31d1a	T	C	13: 59,850,965 (GRCm39)	N388D	probably benign	Het
St3gal4	A	G	9: 34,964,432 (GRCm39)	V190A	possibly damaging	Het
Sv2b	T	C	7: 74,767,470 (GRCm39)	N642S	possibly damaging	Het
Svil	T	A	18: 5,056,810 (GRCm39)	I561K	probably benign	Het
Tmem201	A	T	4: 149,812,612 (GRCm39)	Y235N	possibly damaging	Het
Tpx2	T	C	2: 152,711,644 (GRCm39)	S60P	probably benign	Het
Trpa1	T	C	1: 14,980,970 (GRCm39)	Y144C	probably benign	Het
U90926	G	A	5: 92,357,879 (GRCm39)	P91S	probably benign	Het
Utp20	G	T	10: 88,582,796 (GRCm39)	H2780Q	probably benign	Het
Vmn1r215	T	G	13: 23,260,697 (GRCm39)	F246V	probably damaging	Het
Vmn2r72	A	G	7: 85,400,338 (GRCm39)	L237S	probably damaging	Het
Washc5	A	G	15: 59,215,929 (GRCm39)	S817P	probably damaging	Het
Zbtb24	A	G	10: 41,332,614 (GRCm39)		probably null	Het
Zfp212	G	A	6: 47,903,796 (GRCm39)	R127H	probably damaging	Het
Zfp268	C	A	4: 145,348,904 (GRCm39)	Q114K	probably benign	Het
Zfp740	G	T	15: 102,116,714 (GRCm39)		probably null	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
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
R6455:Mios	UTSW	6	8,231,239 (GRCm39)	missense	probably benign	0.03
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'- AAGGTCGCATGGTGTCCAAC -3'
(R):5'- TCAAGTCCATACCTTGATAAAGCC -3'

Sequencing Primer
(F):5'- AGGCCTGCTTGCTACTTTAACAAG -3'
(R):5'- GTCCATACCTTGATAAAGCCCGAAG -3'

Posted On

2016-05-10