Mutagenetix > Incidental Mutation

Incidental Mutation 'R8462:Meikin'

656618

Institutional Source

Beutler Lab

Gene Symbol

Meikin

Ensembl Gene

ENSMUSG00000020332

Gene Name

meiotic kinetochore factor

Synonyms

4930404A10Rik

MMRRC Submission

067906-MU

Accession Numbers

Essential gene?

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

Stock #

R8462 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54261478-54317616 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54290666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 249 (V249A)

Ref Sequence

ENSEMBL: ENSMUSP00000091745 (fasta)

Gene Model

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

AlphaFold

Q5F2C3

Predicted Effect

probably benign
Transcript: ENSMUST00000094193
AA Change: V249A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000091745
Gene: ENSMUSG00000020332
AA Change: V249A

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

100% (40/40)

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
4930544G11Rik	T	C	6: 65,930,074 (GRCm39)	V103A	possibly damaging	Het
Abcb11	T	C	2: 69,104,499 (GRCm39)	N729S	probably benign	Het
Ap2a2	T	A	7: 141,210,394 (GRCm39)	N883K	probably damaging	Het
Atr	T	C	9: 95,749,579 (GRCm39)	I464T	probably benign	Het
Atrn	T	A	2: 130,777,504 (GRCm39)	H184Q	probably damaging	Het
Bmp5	A	G	9: 75,746,874 (GRCm39)	D244G	probably benign	Het
Celsr2	C	A	3: 108,320,167 (GRCm39)	E882*	probably null	Het
Cfap58	T	A	19: 47,972,089 (GRCm39)	V673E	possibly damaging	Het
Chl1	A	G	6: 103,706,130 (GRCm39)	N1155S	probably benign	Het
Colgalt2	C	A	1: 152,378,823 (GRCm39)	H416Q	probably damaging	Het
Dab1	C	T	4: 104,561,404 (GRCm39)	L230F	probably benign	Het
Dixdc1	G	T	9: 50,622,079 (GRCm39)	S84*	probably null	Het
Dnah8	A	G	17: 30,875,603 (GRCm39)	D475G	probably damaging	Het
Egr2	T	A	10: 67,374,173 (GRCm39)	N54K	probably null	Het
Grm3	T	C	5: 9,562,365 (GRCm39)	D495G	probably benign	Het
Kif1b	G	A	4: 149,266,797 (GRCm39)	T1629I	probably benign	Het
Klf2	A	T	8: 73,073,373 (GRCm39)	N59I	probably benign	Het
Krt86	T	C	15: 101,377,284 (GRCm39)	V436A	probably benign	Het
Lrrk2	T	C	15: 91,615,680 (GRCm39)	V838A	probably benign	Het
Ltbp1	T	C	17: 75,620,069 (GRCm39)	S786P	probably damaging	Het
Matk	C	G	10: 81,097,859 (GRCm39)	R315G	probably damaging	Het
Mrnip	A	G	11: 50,090,654 (GRCm39)	R273G	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nsd1	T	A	13: 55,446,189 (GRCm39)		probably null	Het
Pitpnm1	A	T	19: 4,155,135 (GRCm39)	H321L	probably benign	Het
Plekhm2	T	C	4: 141,367,130 (GRCm39)	Y170C	probably damaging	Het
Ralgapa1	T	C	12: 55,723,303 (GRCm39)	D2197G	possibly damaging	Het
Rmdn2	C	T	17: 79,978,053 (GRCm39)	T338M	probably damaging	Het
Rps10	A	G	17: 27,853,208 (GRCm39)	S54P	probably damaging	Het
S100a11	T	C	3: 93,433,422 (GRCm39)	S89P	probably benign	Het
Sh3yl1	T	C	12: 30,992,072 (GRCm39)	Y176H	probably damaging	Het
Sppl2c	G	T	11: 104,077,532 (GRCm39)	A111S	possibly damaging	Het
Stab2	T	C	10: 86,803,598 (GRCm39)	E317G	possibly damaging	Het
Stim1	A	G	7: 102,076,324 (GRCm39)	E425G	probably damaging	Het
Stxbp1	C	T	2: 32,707,293 (GRCm39)		probably null	Het
Traf6	G	A	2: 101,527,801 (GRCm39)	R517Q	probably damaging	Het
Ttn	A	G	2: 76,804,387 (GRCm39)	V295A	probably damaging	Het
Vps45	A	T	3: 95,941,091 (GRCm39)	D383E	possibly damaging	Het
Zfp984	A	G	4: 147,839,796 (GRCm39)	C352R	probably damaging	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
R7969:Meikin	UTSW	11	54,300,536 (GRCm39)	missense	possibly damaging	0.83
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'- GGCGAGTGAGATTATTCAACACAC -3'
(R):5'- TCACTGCAATCGTCAGCATG -3'

Sequencing Primer
(F):5'- AACACACATTAAGTTTTCCCTTCTG -3'
(R):5'- CGTCAGCATGAAATGTCACTCTGG -3'

Posted On

2021-01-18