Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01898:Mios'

179457

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mios

Ensembl Gene

ENSMUSG00000042447

Gene Name

meiosis regulator for oocyte development

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

IGL01898

Quality Score

Status

Chromosome

Chromosomal Location

8209222-8236274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8222668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 534 (I534T)

Ref Sequence

ENSEMBL: ENSMUSP00000039301 (fasta)

Gene Model

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

AlphaFold

Q8VE19

Predicted Effect

probably benign
Transcript: ENSMUST00000040017
AA Change: I534T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000039301
Gene: ENSMUSG00000042447
AA Change: I534T

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	T	2: 154,394,633 (GRCm39)	D195V	probably damaging	Het
Aqp11	A	G	7: 97,375,870 (GRCm39)	W260R	probably benign	Het
Atp8a2	T	C	14: 60,260,962 (GRCm39)	T390A	probably damaging	Het
Atp8b4	T	C	2: 126,231,281 (GRCm39)	N431S	probably benign	Het
Ccdc110	T	G	8: 46,395,161 (GRCm39)	S351A	possibly damaging	Het
Cntnap4	T	C	8: 113,582,939 (GRCm39)	F1006L	possibly damaging	Het
Ddr2	A	G	1: 169,825,725 (GRCm39)	F292L	possibly damaging	Het
F830104G03Rik	G	A	3: 56,797,637 (GRCm39)	Q97*	probably null	Het
Fam171a2	T	C	11: 102,330,582 (GRCm39)	T267A	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Igkv5-43	T	A	6: 69,752,876 (GRCm39)	K69*	probably null	Het
Nus1	A	G	10: 52,306,163 (GRCm39)	D185G	probably benign	Het
Proc	A	G	18: 32,266,198 (GRCm39)		probably null	Het
Psma3	T	A	12: 71,031,448 (GRCm39)	H36Q	probably benign	Het
Sh3rf3	G	T	10: 58,885,352 (GRCm39)	A412S	probably damaging	Het
Smgc	A	T	15: 91,728,727 (GRCm39)		probably null	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Spta1	T	A	1: 174,041,428 (GRCm39)	S1297R	probably benign	Het
Steap3	T	C	1: 120,169,304 (GRCm39)	D293G	probably benign	Het
Tbx18	A	T	9: 87,589,912 (GRCm39)	M342K	possibly damaging	Het
Trip11	T	C	12: 101,851,935 (GRCm39)	M425V	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	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
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
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

Posted On

2014-05-07