Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4519001:Meioc'

555129

Institutional Source

Beutler Lab

Gene Symbol

Meioc

Ensembl Gene

ENSMUSG00000051455

Gene Name

meiosis specific with coiled-coil domain

Synonyms

Gm1564, LOC380729, LOC268491

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

PIT4519001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102663716-102682237 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102679957 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 838 (E838V)

Ref Sequence

ENSEMBL: ENSMUSP00000097947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092569] [ENSMUST00000100378] [ENSMUST00000156590] [ENSMUST00000164506]

AlphaFold

A2AG06

Predicted Effect

probably benign
Transcript: ENSMUST00000092569

SMART Domains

Protein: ENSMUSP00000090230
Gene: ENSMUSG00000020925

Domain	Start	End	E-Value	Type
low complexity region	138	149	N/A	INTRINSIC
coiled coil region	172	217	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100378
AA Change: E838V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: E838V

Domain	Start	End	E-Value	Type
low complexity region	526	537	N/A	INTRINSIC
low complexity region	712	728	N/A	INTRINSIC
Pfam:DUF4582	757	922	5.1e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156590

SMART Domains

Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455

Domain	Start	End	E-Value	Type
low complexity region	470	481	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164506

SMART Domains

Protein: ENSMUSP00000127494
Gene: ENSMUSG00000020925

Domain	Start	End	E-Value	Type
low complexity region	134	149	N/A	INTRINSIC
coiled coil region	172	217	N/A	INTRINSIC

Coding Region Coverage

1x: 93.5%
3x: 90.9%
10x: 84.7%
20x: 70.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit infertility with small gonads, absent germ cells and arrested meiosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,170,666	M803K	probably benign	Het
4930590J08Rik	C	A	6: 91,917,057	N218K	probably damaging	Het
Abcc2	G	A	19: 43,819,397	V826M	possibly damaging	Het
Abcg2	T	C	6: 58,674,807	S395P	probably damaging	Het
Adam1b	C	T	5: 121,501,947	G345D	probably damaging	Het
Alx4	T	A	2: 93,675,428	C292S	probably benign	Het
Amd2	C	A	10: 35,710,631	C310F	possibly damaging	Het
BC051665	A	T	13: 60,784,175	S137T	possibly damaging	Het
Bmp1	A	G	14: 70,490,029	F705L	possibly damaging	Het
Coil	C	T	11: 88,972,726		probably benign	Het
Col6a6	G	A	9: 105,732,263	P1609S	probably benign	Het
Cpt1b	A	T	15: 89,418,863	F633I	probably damaging	Het
Dcun1d2	A	T	8: 13,261,406	D194E	probably benign	Het
Defb4	A	G	8: 19,198,736	R2G	possibly damaging	Het
Dll4	T	C	2: 119,332,416	V506A	probably benign	Het
Dopey2	A	G	16: 93,762,054	S563G	probably benign	Het
Dpp7	C	A	2: 25,352,448	G498W	probably damaging	Het
Fam210a	A	T	18: 68,275,949	S97T	possibly damaging	Het
Fastkd1	T	A	2: 69,690,157	D767V	probably damaging	Het
Fgg	A	T	3: 83,012,939	N342Y	probably damaging	Het
Gimap6	T	G	6: 48,708,061	R30S	probably benign	Het
Gm10840	T	C	11: 106,161,133	V95A	unknown	Het
Herc3	T	A	6: 58,876,811	I614N	probably damaging	Het
Kdr	A	T	5: 75,936,896	S1233R	possibly damaging	Het
Lrp1	C	G	10: 127,607,974	Q141H	possibly damaging	Het
Magi2	A	T	5: 20,661,346	K1078N	probably damaging	Het
Mmp20	A	G	9: 7,628,301	K17E	probably benign	Het
Mtor	C	T	4: 148,524,500	R1538W	probably damaging	Het
Notch2	C	T	3: 98,098,108	T296I	probably damaging	Het
Nup98	T	C	7: 102,134,964	S1054G	probably benign	Het
Olfr1463	A	C	19: 13,234,852	I201L	probably benign	Het
Olfr308	T	C	7: 86,321,733	Y73C	probably damaging	Het
Olfr446	T	C	6: 42,927,644	C138R	probably damaging	Het
Olfr455	T	C	6: 42,538,600	T141A	probably damaging	Het
Pipox	C	A	11: 77,883,175	W205L	probably damaging	Het
Plin4	T	G	17: 56,103,828	T1068P	probably benign	Het
Pou6f2	A	G	13: 18,239,564	S209P	unknown	Het
Ptpdc1	T	C	13: 48,583,156	T713A	probably benign	Het
Rgsl1	T	C	1: 153,825,970	Y246C	possibly damaging	Het
Rnf19b	C	T	4: 129,075,653	A354V	probably damaging	Het
Rsph4a	A	G	10: 33,909,130	T346A	probably benign	Het
Rsrc2	T	C	5: 123,745,072	T16A	unknown	Het
Scrn3	T	C	2: 73,318,424	V113A	possibly damaging	Het
Scrn3	T	A	2: 73,331,003	I311K	possibly damaging	Het
Sfmbt1	T	C	14: 30,784,191		probably null	Het
Sin3a	A	G	9: 57,095,456	I211V	possibly damaging	Het
Strn3	T	C	12: 51,633,708	T370A	probably benign	Het
Sulf1	T	G	1: 12,848,171	N786K	probably damaging	Het
Taf1b	T	A	12: 24,547,119	Y352*	probably null	Het
Tas2r120	T	A	6: 132,657,334	N126K	probably benign	Het
Tjap1	C	A	17: 46,261,506	R68L	probably benign	Het
Tnfsf12	C	T	11: 69,695,404	R66Q	probably benign	Het
Traj45	A	G	14: 54,172,846	D6G		Het
Trappc9	T	C	15: 72,953,094	T541A	probably benign	Het
Ttc29	A	C	8: 78,325,477	E329A	probably benign	Het
Vmn1r117	T	G	7: 20,883,235	D296A	possibly damaging	Het
Vmn1r203	A	G	13: 22,524,595	N182S	probably benign	Het
Vps53	C	A	11: 76,117,173	R287L	probably damaging	Het
Vwce	G	A	19: 10,664,582	E891K	possibly damaging	Het
Zfp608	T	C	18: 54,946,711	N334S	possibly damaging	Het
Zfp648	A	G	1: 154,204,941	H282R	probably damaging	Het

Other mutations in Meioc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Meioc	APN	11	102674287	missense	probably benign	0.33
IGL01952:Meioc	APN	11	102672185	missense	possibly damaging	0.79
IGL02006:Meioc	APN	11	102674266	missense	probably damaging	1.00
IGL02195:Meioc	APN	11	102674857	missense	possibly damaging	0.91
IGL02339:Meioc	APN	11	102668448	missense	probably benign	0.18
IGL02935:Meioc	APN	11	102672191	missense	probably benign	0.06
IGL03294:Meioc	APN	11	102680669	missense	probably damaging	1.00
R0285:Meioc	UTSW	11	102672191	missense	probably benign	0.06
R0964:Meioc	UTSW	11	102680031	missense	probably damaging	1.00
R1074:Meioc	UTSW	11	102675393	missense	probably damaging	1.00
R2024:Meioc	UTSW	11	102675358	missense	probably benign	0.00
R4012:Meioc	UTSW	11	102675828	missense	probably damaging	0.99
R4429:Meioc	UTSW	11	102675720	missense	probably damaging	1.00
R4491:Meioc	UTSW	11	102674920	missense	possibly damaging	0.84
R4594:Meioc	UTSW	11	102674166	missense	probably damaging	1.00
R4752:Meioc	UTSW	11	102674433	missense	probably benign	0.00
R5301:Meioc	UTSW	11	102680045	missense	probably damaging	1.00
R5352:Meioc	UTSW	11	102675313	missense	probably benign	0.03
R5646:Meioc	UTSW	11	102675257	missense	possibly damaging	0.94
R5958:Meioc	UTSW	11	102675153	missense	probably benign	0.41
R5968:Meioc	UTSW	11	102675831	missense	probably damaging	0.99
R6157:Meioc	UTSW	11	102668401	missense	probably damaging	1.00
R6410:Meioc	UTSW	11	102675034	missense	probably benign	0.00
R6644:Meioc	UTSW	11	102668460	critical splice donor site	probably null
R7285:Meioc	UTSW	11	102666342	missense	probably benign	0.00
R7440:Meioc	UTSW	11	102674237	missense	possibly damaging	0.67
R7815:Meioc	UTSW	11	102675588	missense	probably damaging	1.00
R7984:Meioc	UTSW	11	102674606	missense	possibly damaging	0.94
R8009:Meioc	UTSW	11	102676743	missense	probably damaging	1.00
R8078:Meioc	UTSW	11	102668400	nonsense	probably null
R8195:Meioc	UTSW	11	102675067	nonsense	probably null
R8429:Meioc	UTSW	11	102674206	missense	probably benign	0.06
R8797:Meioc	UTSW	11	102676860	nonsense	probably null
R8854:Meioc	UTSW	11	102675763	missense	probably damaging	0.98
R8891:Meioc	UTSW	11	102668420	missense	probably benign	0.43
R9081:Meioc	UTSW	11	102674175	missense	probably benign	0.00
R9360:Meioc	UTSW	11	102674953	missense	probably benign	0.13
R9539:Meioc	UTSW	11	102674680	missense	probably damaging	0.99
R9549:Meioc	UTSW	11	102665724	intron	probably benign
R9751:Meioc	UTSW	11	102675593	nonsense	probably null
Z1177:Meioc	UTSW	11	102666364	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CCCAGTATCAGATCTTAGCACTG -3'
(R):5'- GCTGTTGCTACCAAATGATCAAACATG -3'

Sequencing Primer
(F):5'- GTATCAGATCTTAGCACTGTCAATG -3'
(R):5'- TCTTTTAATCCCAGAATCTGA -3'

Posted On

2019-06-07