Mutagenetix > Incidental Mutation

Incidental Mutation 'R4568:Omt2b'

341949

Institutional Source

Beutler Lab

Gene Symbol

Omt2b

Ensembl Gene

ENSMUSG00000038750

Gene Name

oocyte maturation, beta

Synonyms

OM2b

MMRRC Submission

041792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R4568 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78235312-78236902 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 78235529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034902] [ENSMUST00000043734] [ENSMUST00000125479] [ENSMUST00000129247] [ENSMUST00000186336] [ENSMUST00000187667]

AlphaFold

D3YX29

Predicted Effect

probably benign
Transcript: ENSMUST00000034902

SMART Domains

Protein: ENSMUSP00000034902
Gene: ENSMUSG00000057933

Domain	Start	End	E-Value	Type
Pfam:GST_N	5	77	5.1e-23	PFAM
Pfam:GST_C	99	192	8.9e-21	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000043734
AA Change: V37D

SMART Domains

Protein: ENSMUSP00000036132
Gene: ENSMUSG00000038750
AA Change: V37D

Domain	Start	End	E-Value	Type
transmembrane domain	69	91	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125479

SMART Domains

Protein: ENSMUSP00000115517
Gene: ENSMUSG00000057933

Domain	Start	End	E-Value	Type
Pfam:GST_N	5	77	1.1e-21	PFAM
Pfam:GST_C	78	182	1.1e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129247

SMART Domains

Protein: ENSMUSP00000117101
Gene: ENSMUSG00000057933

Domain	Start	End	E-Value	Type
Pfam:GST_N	5	77	1.1e-21	PFAM
Pfam:GST_C	78	179	1.2e-13	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000186336
AA Change: V37D

Predicted Effect

unknown
Transcript: ENSMUST00000187667
AA Change: V37D

SMART Domains

Protein: ENSMUSP00000139767
Gene: ENSMUSG00000038750
AA Change: V37D

Domain	Start	End	E-Value	Type
transmembrane domain	69	91	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187890

Predicted Effect

unknown
Transcript: ENSMUST00000189243
AA Change: V22D

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	A	7: 119,162,740 (GRCm39)	W5R	probably benign	Het
Bik	T	C	15: 83,425,645 (GRCm39)		probably null	Het
Col6a1	A	T	10: 76,555,031 (GRCm39)		probably benign	Het
Crem	A	G	18: 3,299,175 (GRCm39)	I83T	probably damaging	Het
Csn1s1	G	A	5: 87,828,763 (GRCm39)	V276I	possibly damaging	Het
Ctnna3	C	T	10: 63,688,588 (GRCm39)	T344M	possibly damaging	Het
Dgcr8	G	A	16: 18,098,258 (GRCm39)	P378S	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Gpr139	C	T	7: 118,744,028 (GRCm39)	V186M	probably damaging	Het
Krba1	A	G	6: 48,386,657 (GRCm39)	T422A	probably damaging	Het
Lgals8	T	G	13: 12,468,254 (GRCm39)	Y125S	probably damaging	Het
Map4k1	G	A	7: 28,686,079 (GRCm39)	G107D	probably damaging	Het
Mfsd6	A	T	1: 52,702,448 (GRCm39)	Y599*	probably null	Het
Or1d2	A	G	11: 74,256,035 (GRCm39)	E180G	probably damaging	Het
Or9s15	A	T	1: 92,525,113 (GRCm39)	M291L	probably benign	Het
Pga5	A	G	19: 10,649,216 (GRCm39)	Y235H	probably damaging	Het
Phldb2	T	A	16: 45,598,081 (GRCm39)	K869*	probably null	Het
Pik3cb	T	C	9: 98,972,355 (GRCm39)	M268V	probably benign	Het
Pla2g4a	T	C	1: 149,717,977 (GRCm39)	D624G	probably benign	Het
Plxna4	T	A	6: 32,129,873 (GRCm39)	I1817F	probably damaging	Het
Psmg3	A	G	5: 139,812,004 (GRCm39)	I32T	probably damaging	Het
Ptpn4	T	C	1: 119,607,789 (GRCm39)	E757G	probably damaging	Het
Rasl2-9	AGG	A	7: 5,128,374 (GRCm39)		probably null	Het
Ripply3	T	A	16: 94,136,688 (GRCm39)	D116E	probably damaging	Het
Robo4	T	C	9: 37,316,118 (GRCm39)	V263A	possibly damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Spef2	T	C	15: 9,647,303 (GRCm39)	H1008R	probably damaging	Het
Stag1	T	C	9: 100,730,722 (GRCm39)	V379A	probably damaging	Het
Tasor	A	T	14: 27,198,658 (GRCm39)		probably null	Het
Tbc1d9	A	G	8: 83,997,806 (GRCm39)	E1121G	probably benign	Het
Tpr	T	C	1: 150,268,710 (GRCm39)		probably benign	Het
Trpv6	G	T	6: 41,603,503 (GRCm39)	P206H	probably damaging	Het
Vmn2r63	T	C	7: 42,583,250 (GRCm39)		probably null	Het
Vmn2r65	C	T	7: 84,596,677 (GRCm39)	C126Y	probably damaging	Het

Other mutations in Omt2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02325:Omt2b	APN	9	78,235,854 (GRCm39)	missense	possibly damaging	0.66
R0497:Omt2b	UTSW	9	78,235,513 (GRCm39)	unclassified	probably benign
R0789:Omt2b	UTSW	9	78,235,447 (GRCm39)	unclassified	probably benign
R1526:Omt2b	UTSW	9	78,235,420 (GRCm39)	unclassified	probably benign
R2191:Omt2b	UTSW	9	78,235,457 (GRCm39)	unclassified	probably benign
R2192:Omt2b	UTSW	9	78,235,457 (GRCm39)	unclassified	probably benign
R5884:Omt2b	UTSW	9	78,235,839 (GRCm39)	missense	probably benign	0.00
R6287:Omt2b	UTSW	9	78,235,543 (GRCm39)	missense	possibly damaging	0.92
R7409:Omt2b	UTSW	9	78,235,894 (GRCm39)	missense	probably benign	0.03
R9077:Omt2b	UTSW	9	78,235,548 (GRCm39)	critical splice donor site	probably null
Z1176:Omt2b	UTSW	9	78,236,612 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AACCATAGTGTGCCTTGGGG -3'
(R):5'- CGAGAGGCAATCTTAAGACTTGAAG -3'

Sequencing Primer
(F):5'- GCTTGGGGGTGGAGAGAC -3'
(R):5'- ATTCTGGGACTTTGGTAGC -3'

Posted On

2015-09-24