Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01830:Meiob'

154758

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Meiob

Ensembl Gene

ENSMUSG00000024155

Gene Name

meiosis specific with OB domains

Synonyms

4930528F23Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01830

Quality Score

Status

Chromosome

Chromosomal Location

25023275-25058762 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25054105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 391 (C391S)

Ref Sequence

ENSEMBL: ENSMUSP00000024972 (fasta)

Gene Model

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

AlphaFold

Q9D513

Predicted Effect

probably benign
Transcript: ENSMUST00000024972
AA Change: C391S

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000024972
Gene: ENSMUSG00000024155
AA Change: C391S

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

Coding Region Coverage

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahsg	C	A	16: 22,717,779 (GRCm39)	P252Q	probably damaging	Het
Anks4b	T	A	7: 119,773,219 (GRCm39)	N26K	probably damaging	Het
Arrdc5	C	T	17: 56,601,652 (GRCm39)	V158I	probably damaging	Het
Catsper2	T	C	2: 121,237,843 (GRCm39)	D179G	probably damaging	Het
Cd44	T	C	2: 102,672,603 (GRCm39)		probably benign	Het
Ceacam3	T	A	7: 16,888,925 (GRCm39)	D231E	possibly damaging	Het
Cep57l1	C	T	10: 41,604,649 (GRCm39)	C160Y	probably benign	Het
Chek2	T	A	5: 111,021,374 (GRCm39)	L528Q	probably benign	Het
Ciita	T	C	16: 10,338,915 (GRCm39)	L973P	probably damaging	Het
Dock2	A	T	11: 34,582,744 (GRCm39)	L637*	probably null	Het
Fsip2	A	C	2: 82,815,273 (GRCm39)	I3669L	probably benign	Het
Gapvd1	A	G	2: 34,578,968 (GRCm39)	V1218A	probably benign	Het
Gip	T	C	11: 95,919,550 (GRCm39)	L91S	possibly damaging	Het
Gp2	T	C	7: 119,050,765 (GRCm39)	D322G	probably damaging	Het
Ift172	A	G	5: 31,442,636 (GRCm39)	V177A	probably damaging	Het
Kng2	T	C	16: 22,806,801 (GRCm39)	D466G	probably damaging	Het
Lpar5	G	A	6: 125,058,785 (GRCm39)	A169T	probably benign	Het
Med13	C	T	11: 86,179,754 (GRCm39)		probably benign	Het
Mgat5	A	G	1: 127,339,869 (GRCm39)	T417A	probably damaging	Het
Myo1b	A	T	1: 51,836,624 (GRCm39)	L279*	probably null	Het
Myo1g	T	A	11: 6,464,522 (GRCm39)	K513*	probably null	Het
Nxpe2	A	T	9: 48,237,794 (GRCm39)	S154T	probably damaging	Het
Ogn	C	T	13: 49,762,723 (GRCm39)	Q22*	probably null	Het
Or4c12	A	G	2: 89,773,775 (GRCm39)	L228S	probably benign	Het
Pacs2	A	T	12: 113,020,574 (GRCm39)	K316*	probably null	Het
Pelo	T	A	13: 115,225,131 (GRCm39)	I365F	probably damaging	Het
Phf3	G	A	1: 30,853,148 (GRCm39)	Q1021*	probably null	Het
Pik3r4	A	G	9: 105,522,154 (GRCm39)	D240G	probably damaging	Het
Pknox1	T	C	17: 31,814,284 (GRCm39)	M203T	probably benign	Het
Pld1	T	C	3: 28,102,153 (GRCm39)		probably benign	Het
Rabgef1	G	T	5: 130,240,907 (GRCm39)	C342F	possibly damaging	Het
Rbm19	A	C	5: 120,262,760 (GRCm39)	K307T	possibly damaging	Het
Sdcbp2	T	A	2: 151,431,494 (GRCm39)	I289N	probably damaging	Het
Slc5a12	G	A	2: 110,428,151 (GRCm39)	G69R	probably damaging	Het
Spag1	C	A	15: 36,221,705 (GRCm39)	S599R	probably benign	Het
Ubr4	A	T	4: 139,199,811 (GRCm39)	D4565V	probably damaging	Het
Usp34	G	A	11: 23,386,020 (GRCm39)	R2149H	probably damaging	Het
Vmn1r225	T	C	17: 20,722,717 (GRCm39)	S53P	probably damaging	Het
Xrcc1	T	A	7: 24,272,767 (GRCm39)		probably benign	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
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
R6524:Meiob	UTSW	17	25,051,491 (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

Posted On

2014-02-04