Mutagenetix > Incidental Mutation

Incidental Mutation 'R6524:Meiob'

521629

Institutional Source

Beutler Lab

Gene Symbol

Meiob

Ensembl Gene

ENSMUSG00000024155

Gene Name

meiosis specific with OB domains

Synonyms

4930528F23Rik

MMRRC Submission

044650-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R6524 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25023275-25058762 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25051491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 291 (V291I)

Ref Sequence

ENSEMBL: ENSMUSP00000024972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024972]

AlphaFold

Q9D513

Predicted Effect

probably benign
Transcript: ENSMUST00000024972
AA Change: V291I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000024972
Gene: ENSMUSG00000024155
AA Change: V291I

Domain	Start	End	E-Value	Type
SCOP:d1fgua2	167	271	2e-9	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

100% (44/44)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit male and female infertility associated with germ cell apoptosis, reduced gonads and impaired meiosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,435,641 (GRCm39)	R100G	possibly damaging	Het
Acin1	G	T	14: 54,882,740 (GRCm39)	D237E	probably damaging	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
C3	A	T	17: 57,524,264 (GRCm39)		probably null	Het
Dnaaf2	A	T	12: 69,237,159 (GRCm39)	C650S	probably benign	Het
Dsg2	T	G	18: 20,716,093 (GRCm39)	F315V	probably damaging	Het
Dyrk1a	C	T	16: 94,485,979 (GRCm39)	S404L	probably benign	Het
Eefsec	T	C	6: 88,274,902 (GRCm39)		probably null	Het
Esco1	T	G	18: 10,582,188 (GRCm39)		probably null	Het
Fam83a	T	C	15: 57,858,736 (GRCm39)		probably null	Het
Fat3	A	T	9: 15,903,552 (GRCm39)	V2981E	probably damaging	Het
H1f11-ps	G	A	19: 47,158,999 (GRCm39)	T192M	unknown	Het
Heatr5b	A	G	17: 79,121,535 (GRCm39)	L730P	possibly damaging	Het
Hgsnat	A	G	8: 26,435,260 (GRCm39)	S625P	probably damaging	Het
Itpr1	C	T	6: 108,340,644 (GRCm39)	T84I	probably damaging	Het
Itpr2	T	C	6: 146,246,709 (GRCm39)	N1070S	probably benign	Het
Itsn1	T	C	16: 91,708,883 (GRCm39)	F276L	probably damaging	Het
Krt84	A	G	15: 101,441,187 (GRCm39)	S2P	unknown	Het
Lbhd2	G	A	12: 111,376,724 (GRCm39)	R57H	probably damaging	Het
Lcmt2	T	C	2: 120,969,412 (GRCm39)	E337G	possibly damaging	Het
Lrp1b	T	C	2: 40,741,816 (GRCm39)	E3037G	possibly damaging	Het
Lrp2	T	C	2: 69,266,983 (GRCm39)	E4308G	possibly damaging	Het
Med13	A	G	11: 86,192,293 (GRCm39)	I824T	probably damaging	Het
Mtcl1	A	T	17: 66,655,280 (GRCm39)	D1343E	probably benign	Het
Mybl2	C	A	2: 162,916,450 (GRCm39)	P367Q	possibly damaging	Het
Nav3	T	C	10: 109,555,891 (GRCm39)	N1680S	probably damaging	Het
Nif3l1	T	C	1: 58,496,999 (GRCm39)	V308A	probably benign	Het
Or5h23	C	T	16: 58,906,640 (GRCm39)	V69M	possibly damaging	Het
Pclo	G	A	5: 14,768,883 (GRCm39)	R4366H	unknown	Het
Phax	T	A	18: 56,720,074 (GRCm39)	D338E	probably damaging	Het
Pnpla6	T	A	8: 3,584,519 (GRCm39)		probably null	Het
Rint1	A	T	5: 24,020,737 (GRCm39)	M529L	probably benign	Het
Scand1	C	T	2: 156,154,169 (GRCm39)		probably benign	Het
Six3	C	T	17: 85,929,398 (GRCm39)	T244I	probably damaging	Het
Slc4a4	T	C	5: 89,380,623 (GRCm39)	S1034P	probably benign	Het
Ssu72	T	G	4: 155,799,997 (GRCm39)	N53K	probably null	Het
Timm44	T	C	8: 4,317,988 (GRCm39)	D140G	possibly damaging	Het
Tspan8	T	C	10: 115,679,984 (GRCm39)	F200L	probably benign	Het
Tyw5	A	T	1: 57,427,890 (GRCm39)	V234D	possibly damaging	Het
Ubxn10	T	A	4: 138,448,194 (GRCm39)	R161*	probably null	Het
Vmn2r23	T	A	6: 123,690,384 (GRCm39)	L420Q	probably damaging	Het
Wdr1	A	T	5: 38,687,406 (GRCm39)	D208E	probably benign	Het
Yif1a	A	G	19: 5,142,204 (GRCm39)	Y230C	probably damaging	Het

Other mutations in Meiob

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Meiob	APN	17	25,042,603 (GRCm39)	missense	probably benign	0.00
IGL01830:Meiob	APN	17	25,054,105 (GRCm39)	missense	probably benign	0.45
IGL01838:Meiob	APN	17	25,042,643 (GRCm39)	missense	possibly damaging	0.68
R0165:Meiob	UTSW	17	25,054,135 (GRCm39)	missense	probably benign	0.00
R0605:Meiob	UTSW	17	25,037,236 (GRCm39)	splice site	probably benign
R1170:Meiob	UTSW	17	25,055,458 (GRCm39)	missense	probably damaging	1.00
R1496:Meiob	UTSW	17	25,032,026 (GRCm39)	missense	possibly damaging	0.93
R1721:Meiob	UTSW	17	25,053,021 (GRCm39)	missense	probably damaging	1.00
R1857:Meiob	UTSW	17	25,042,544 (GRCm39)	missense	probably damaging	1.00
R1858:Meiob	UTSW	17	25,042,544 (GRCm39)	missense	probably damaging	1.00
R1937:Meiob	UTSW	17	25,037,305 (GRCm39)	missense	probably benign	0.34
R2066:Meiob	UTSW	17	25,037,290 (GRCm39)	missense	probably damaging	1.00
R2510:Meiob	UTSW	17	25,035,571 (GRCm39)	splice site	probably benign
R3433:Meiob	UTSW	17	25,035,571 (GRCm39)	splice site	probably benign
R3906:Meiob	UTSW	17	25,046,922 (GRCm39)	missense	probably benign	0.00
R4967:Meiob	UTSW	17	25,037,353 (GRCm39)	missense	probably damaging	1.00
R5707:Meiob	UTSW	17	25,054,025 (GRCm39)	missense	probably benign
R6109:Meiob	UTSW	17	25,031,993 (GRCm39)	missense	probably benign
R6756:Meiob	UTSW	17	25,058,506 (GRCm39)	missense	possibly damaging	0.94
R7167:Meiob	UTSW	17	25,055,419 (GRCm39)	missense	probably damaging	1.00
R8382:Meiob	UTSW	17	25,046,913 (GRCm39)	missense	possibly damaging	0.79
R8440:Meiob	UTSW	17	25,037,302 (GRCm39)	missense	probably benign
R8751:Meiob	UTSW	17	25,047,008 (GRCm39)	critical splice donor site	probably null
R9000:Meiob	UTSW	17	25,047,916 (GRCm39)	splice site	probably benign
R9799:Meiob	UTSW	17	25,042,574 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCGTTGAATTGCCTTCTTTTGTA -3'
(R):5'- TTGATCATTATTAATATGAGCTTCCCC -3'

Sequencing Primer
(F):5'- AATTGCCTTCTTTTGTAGTGTTTTG -3'
(R):5'- GTCCAGTTCTAGGGAATTCAACGC -3'

Posted On

2018-06-06