Mutagenetix > Incidental Mutation

Incidental Mutation 'R6343:Meikin'

514015

Institutional Source

Beutler Lab

Gene Symbol

Meikin

Ensembl Gene

ENSMUSG00000020332

Gene Name

meiotic kinetochore factor

Synonyms

4930404A10Rik

MMRRC Submission

044497-MU

Accession Numbers

Essential gene?

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

Stock #

R6343 (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 54261592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 33 (L33P)

Ref Sequence

ENSEMBL: ENSMUSP00000091745 (fasta)

Gene Model

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

AlphaFold

Q5F2C3

Predicted Effect

probably damaging
Transcript: ENSMUST00000094193
AA Change: L33P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091745
Gene: ENSMUSG00000020332
AA Change: L33P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143919

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (51/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,205,378 (GRCm39)	L301Q	probably damaging	Het
Adgrl4	T	C	3: 151,223,443 (GRCm39)	L632P	probably damaging	Het
Cacna2d1	T	A	5: 16,527,562 (GRCm39)	I539N	probably benign	Het
Camta1	T	A	4: 151,164,306 (GRCm39)	H314L	probably damaging	Het
Car2	T	C	3: 14,953,025 (GRCm39)	S56P	probably damaging	Het
Chrm5	G	A	2: 112,309,793 (GRCm39)	A441V	probably damaging	Het
Ckap5	T	A	2: 91,426,819 (GRCm39)	N1380K	possibly damaging	Het
Cspg4	T	C	9: 56,799,976 (GRCm39)	V1580A	probably benign	Het
Dcc	A	G	18: 71,469,106 (GRCm39)	L1099P	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Epha5	A	T	5: 84,254,606 (GRCm39)	H644Q	probably damaging	Het
Eya3	T	C	4: 132,400,221 (GRCm39)	I80T	probably damaging	Het
Fdft1	A	T	14: 63,388,721 (GRCm39)	Y304N	probably damaging	Het
Fiz1	C	T	7: 5,011,400 (GRCm39)	A373T	possibly damaging	Het
Gpatch2l	T	A	12: 86,307,379 (GRCm39)	Y252*	probably null	Het
Hivep1	G	T	13: 42,313,147 (GRCm39)	G1796*	probably null	Het
Irf8	T	C	8: 121,480,446 (GRCm39)	V228A	probably damaging	Het
Islr	A	C	9: 58,064,379 (GRCm39)	V376G	probably damaging	Het
Kdm5a	T	C	6: 120,359,894 (GRCm39)	V230A	probably benign	Het
Lpgat1	A	G	1: 191,508,684 (GRCm39)		probably null	Het
Lrp8	T	C	4: 107,726,353 (GRCm39)		probably null	Het
Lyzl4	A	C	9: 121,407,150 (GRCm39)	S127A	possibly damaging	Het
Map4k1	T	C	7: 28,699,715 (GRCm39)	V606A	possibly damaging	Het
Mau2	T	A	8: 70,484,173 (GRCm39)	K138N	probably damaging	Het
Mrpl28	T	C	17: 26,345,252 (GRCm39)	V224A	probably benign	Het
Ncdn	T	C	4: 126,640,964 (GRCm39)	D512G	possibly damaging	Het
Nlrp2	T	A	7: 5,303,925 (GRCm39)	Q200L	possibly damaging	Het
Nup98	T	C	7: 101,843,957 (GRCm39)	N89S	possibly damaging	Het
Ogfrl1	T	G	1: 23,408,944 (GRCm39)	K427N	probably benign	Het
Or14a258	T	A	7: 86,035,059 (GRCm39)	R270*	probably null	Het
Or52p2	A	G	7: 102,237,753 (GRCm39)	C66R	probably damaging	Het
Or5b12	G	T	19: 12,896,946 (GRCm39)	H242Q	probably damaging	Het
Or6c201	A	T	10: 128,969,535 (GRCm39)	L34*	probably null	Het
Padi3	C	T	4: 140,530,819 (GRCm39)	V68I	possibly damaging	Het
Pign	A	T	1: 105,512,820 (GRCm39)	M621K	probably benign	Het
Pigv	C	T	4: 133,392,547 (GRCm39)	V208M	probably damaging	Het
Ripk4	A	G	16: 97,564,726 (GRCm39)		probably benign	Het
Rsf1	A	G	7: 97,310,124 (GRCm39)	K285E	probably benign	Het
Serpina3k	G	C	12: 104,311,562 (GRCm39)	G380A	probably benign	Het
Sorbs1	A	G	19: 40,365,426 (GRCm39)		probably null	Het
Srrd	G	C	5: 112,487,866 (GRCm39)	A104G	probably benign	Het
Tbp	T	A	17: 15,721,351 (GRCm39)		probably null	Het
Tecrl	G	A	5: 83,442,447 (GRCm39)	H209Y	probably damaging	Het
Tmprss11c	A	G	5: 86,404,204 (GRCm39)	L157P	probably damaging	Het
Tmprss13	A	T	9: 45,254,498 (GRCm39)	T422S	possibly damaging	Het
Ttll5	A	G	12: 86,003,473 (GRCm39)	H1103R	probably benign	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Vldlr	A	G	19: 27,223,049 (GRCm39)	Y699C	probably damaging	Het
Vmn1r22	T	G	6: 57,877,563 (GRCm39)	N138T	possibly 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
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
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'- TACTTGACAGGCCCAGAACG -3'
(R):5'- TGCTACCTGTGAGTCTGCTC -3'

Sequencing Primer
(F):5'- ATCTTCCCAGAAGCCCTCG -3'
(R):5'- GAGTCTGCTCAATTCCTTCTTCTCAG -3'

Posted On

2018-04-27