Mutagenetix > Incidental Mutation

Incidental Mutation 'R7969:Meikin'

650513

Institutional Source

Beutler Lab

Gene Symbol

Meikin

Ensembl Gene

ENSMUSG00000020332

Gene Name

meiotic kinetochore factor

Synonyms

4930404A10Rik

MMRRC Submission

046012-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R7969 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54261478-54317616 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54300536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 338 (S338P)

Ref Sequence

ENSEMBL: ENSMUSP00000091745 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094193]

AlphaFold

Q5F2C3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094193
AA Change: S338P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091745
Gene: ENSMUSG00000020332
AA Change: S338P

Domain	Start	End	E-Value	Type
low complexity region	91	104	N/A	INTRINSIC
low complexity region	361	386	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display male and female infertility with defects in sister kinetochore pairing in meiosis I. [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
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Ahcyl2	T	A	6: 29,870,663 (GRCm39)	I193N	probably damaging	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Atf6b	A	T	17: 34,867,549 (GRCm39)		probably null	Het
Cacna1s	T	G	1: 136,004,470 (GRCm39)	F337C	probably damaging	Het
Cep85l	T	C	10: 53,174,280 (GRCm39)	I488V	probably damaging	Het
Cmas	T	A	6: 142,720,892 (GRCm39)	D375E	probably damaging	Het
Cnga4	T	C	7: 105,055,253 (GRCm39)	F279S	probably damaging	Het
Cyp4f37	T	C	17: 32,844,181 (GRCm39)	V95A	probably benign	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dlg2	T	C	7: 92,066,466 (GRCm39)	F235S	probably benign	Het
Dmxl2	T	C	9: 54,354,165 (GRCm39)	D427G	possibly damaging	Het
Efl1	T	C	7: 82,342,178 (GRCm39)	Y529H	probably benign	Het
Epx	C	T	11: 87,763,547 (GRCm39)	M224I	probably benign	Het
Fetub	A	G	16: 22,748,449 (GRCm39)	R101G	possibly damaging	Het
Fubp1	T	A	3: 151,927,883 (GRCm39)		probably null	Het
Impdh2	C	T	9: 108,439,505 (GRCm39)	R153*	probably null	Het
Kcnj12	C	T	11: 60,960,430 (GRCm39)	Q243*	probably null	Het
Lrrn1	T	A	6: 107,544,811 (GRCm39)	V203E	probably damaging	Het
Myl10	A	T	5: 136,729,707 (GRCm39)		probably null	Het
Nt5c3b	T	C	11: 100,325,567 (GRCm39)	K120E	possibly damaging	Het
Or10al2	T	A	17: 37,983,547 (GRCm39)	L211H	probably damaging	Het
Or2h1b	T	A	17: 37,462,077 (GRCm39)	N262I	possibly damaging	Het
Or6c1	G	A	10: 129,517,699 (GRCm39)	T303I	probably benign	Het
Or6c75	T	C	10: 129,337,716 (GRCm39)	L313S	probably benign	Het
Pdzd7	A	G	19: 45,024,664 (GRCm39)	S452P	probably benign	Het
Prune2	A	G	19: 17,179,034 (GRCm39)	I2982V	probably damaging	Het
Ptpdc1	G	A	13: 48,740,577 (GRCm39)	R285C	probably damaging	Het
Raf1	T	C	6: 115,597,249 (GRCm39)	D486G	probably damaging	Het
Rbm27	A	T	18: 42,408,545 (GRCm39)		probably benign	Het
Slit2	A	G	5: 48,461,378 (GRCm39)	Y1475C	possibly damaging	Het
Snx14	G	A	9: 88,295,613 (GRCm39)	T184M	probably damaging	Het
Tgm5	G	T	2: 120,905,650 (GRCm39)	N168K	probably damaging	Het
Ugt2b38	A	G	5: 87,571,891 (GRCm39)	V47A	probably benign	Het
Ush2a	A	G	1: 188,558,568 (GRCm39)	H3599R	probably benign	Het
Veph1	T	C	3: 66,122,896 (GRCm39)	E211G	possibly damaging	Het
Wapl	T	A	14: 34,452,604 (GRCm39)	H832Q	probably damaging	Het
Zfp281	T	A	1: 136,553,772 (GRCm39)	V250D	probably benign	Het
Zfp36l2	A	G	17: 84,493,252 (GRCm39)	S462P	unknown	Het

Other mutations in Meikin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Meikin	APN	11	54,289,320 (GRCm39)	missense	probably damaging	0.96
IGL02893:Meikin	APN	11	54,308,584 (GRCm39)	missense	possibly damaging	0.83
IGL03224:Meikin	APN	11	54,289,286 (GRCm39)	missense	probably benign	0.01
R0153:Meikin	UTSW	11	54,300,468 (GRCm39)	splice site	probably benign
R0634:Meikin	UTSW	11	54,281,309 (GRCm39)	missense	probably benign	0.22
R1374:Meikin	UTSW	11	54,289,270 (GRCm39)	splice site	probably benign
R1457:Meikin	UTSW	11	54,261,767 (GRCm39)	nonsense	probably null
R1659:Meikin	UTSW	11	54,281,392 (GRCm39)	nonsense	probably null
R1799:Meikin	UTSW	11	54,308,613 (GRCm39)	missense	probably benign	0.27
R2869:Meikin	UTSW	11	54,264,333 (GRCm39)	missense	possibly damaging	0.46
R2869:Meikin	UTSW	11	54,264,333 (GRCm39)	missense	possibly damaging	0.46
R3801:Meikin	UTSW	11	54,290,697 (GRCm39)	splice site	probably null
R4384:Meikin	UTSW	11	54,308,613 (GRCm39)	nonsense	probably null
R6343:Meikin	UTSW	11	54,261,592 (GRCm39)	missense	probably damaging	0.97
R6523:Meikin	UTSW	11	54,289,327 (GRCm39)	nonsense	probably null
R6878:Meikin	UTSW	11	54,302,712 (GRCm39)	missense	possibly damaging	0.83
R7214:Meikin	UTSW	11	54,302,738 (GRCm39)	missense	probably benign	0.40
R8462:Meikin	UTSW	11	54,290,666 (GRCm39)	missense	probably benign	0.01
R8680:Meikin	UTSW	11	54,317,477 (GRCm39)	missense	possibly damaging	0.46
R9136:Meikin	UTSW	11	54,285,464 (GRCm39)	missense	possibly damaging	0.82
R9169:Meikin	UTSW	11	54,285,517 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- CAGTTCAGAAAATTCTTCAGTTTCC -3'
(R):5'- AAAATTTGTGACCTGGCAAGTT -3'

Sequencing Primer
(F):5'- AAATTCTTCAGTTTCCTATCAGATGG -3'
(R):5'- CTCCTGCAAAGGACCTGAGTTTAG -3'

Posted On

2020-09-15