Mutagenetix > Incidental Mutation

Incidental Mutation 'R7984:Meioc'

651385

Institutional Source

Beutler Lab

Gene Symbol

Meioc

Ensembl Gene

ENSMUSG00000051455

Gene Name

meiosis specific with coiled-coil domain

Synonyms

Gm1564, LOC380729, LOC268491

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R7984 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102663716-102682237 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102674606 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 293 (N293K)

Ref Sequence

ENSEMBL: ENSMUSP00000116246 (fasta)

Gene Model

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

AlphaFold

A2AG06

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100378
AA Change: N349K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: N349K

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

possibly damaging
Transcript: ENSMUST00000156590
AA Change: N293K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455
AA Change: N293K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (58/58)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1e1	G	T	13: 4,595,680	H226N	probably damaging	Het
Aldh1a7	T	C	19: 20,709,400	D283G	probably damaging	Het
Angel1	T	C	12: 86,720,294	D436G	probably benign	Het
Ank1	G	A	8: 23,088,966	R314Q	probably damaging	Het
Apbb2	T	C	5: 66,307,692	E629G	probably damaging	Het
Card9	T	G	2: 26,356,772	I355L	probably benign	Het
Cdon	C	T	9: 35,503,302	P1158S	probably benign	Het
Cpne7	T	G	8: 123,119,722	V91G	possibly damaging	Het
Dlc1	T	A	8: 36,938,318	T106S	possibly damaging	Het
Dnah1	A	T	14: 31,267,815	F3248Y	probably damaging	Het
Dnah7a	A	T	1: 53,504,218	D2264E	probably benign	Het
Dock7	A	T	4: 98,989,066	N1078K	unknown	Het
Emc1	T	A	4: 139,375,449	L973H	probably damaging	Het
Fer1l5	T	A	1: 36,408,621	L955Q	possibly damaging	Het
Fpr-rs7	T	C	17: 20,113,409	N273S	probably benign	Het
Gle1	T	A	2: 29,938,576	Y137N	probably damaging	Het
Grik4	G	A	9: 42,671,261	Q130*	probably null	Het
Hcn1	C	T	13: 117,976,073	Q858*	probably null	Het
Heg1	A	C	16: 33,763,575	S76R	possibly damaging	Het
Ikbke	T	A	1: 131,275,786	E50V	probably null	Het
Itga5	G	A	15: 103,355,952	P297S	probably damaging	Het
Kcng1	C	A	2: 168,262,486	R480L	possibly damaging	Het
Kdm3b	G	T	18: 34,823,699	E1236*	probably null	Het
Ldlrad4	G	T	18: 68,235,669	A66S	possibly damaging	Het
Lrp5	A	G	19: 3,612,342	F894L	probably damaging	Het
Lrrk1	T	C	7: 66,300,729		probably null	Het
Man2a2	T	G	7: 80,353,308	T1018P	probably damaging	Het
Mctp2	T	C	7: 72,103,189	Q772R	possibly damaging	Het
Mrps24	A	T	11: 5,707,495	C34S	possibly damaging	Het
Nek1	G	T	8: 61,121,053	E1112*	probably null	Het
Nt5dc2	A	G	14: 31,138,818	S317G	probably damaging	Het
Obscn	G	T	11: 59,106,325	Q1492K	possibly damaging	Het
Olfr1160	T	A	2: 88,006,625	N42I	probably damaging	Het
Olfr1413	A	G	1: 92,573,422	I84V	probably benign	Het
Olfr47	T	G	6: 43,235,796	S63A	probably damaging	Het
Olfr677	T	C	7: 105,056,432	F62S	probably damaging	Het
Olfr816	A	G	10: 129,912,072	F69L	probably benign	Het
Olfr883	A	G	9: 38,025,859	T18A	probably damaging	Het
P2ry12	T	A	3: 59,217,601	I218F	probably damaging	Het
Paip1	C	T	13: 119,430,162	Q11*	probably null	Het
Pcdhga3	C	A	18: 37,676,496	D667E	probably benign	Het
Pcnx2	T	G	8: 125,759,126	E1911A	probably benign	Het
Pibf1	T	C	14: 99,221,627	L678P	probably damaging	Het
Pira2	A	T	7: 3,841,697	F445Y	probably benign	Het
Prickle2	T	C	6: 92,410,874	T516A	probably benign	Het
Prl2c1	G	A	13: 27,855,327		probably null	Het
Rnf112	A	G	11: 61,449,480	V656A	possibly damaging	Het
Siglecf	A	C	7: 43,355,231		probably null	Het
Slc24a1	A	T	9: 64,949,529	L32*	probably null	Het
Slc7a1	A	G	5: 148,342,110	V284A	possibly damaging	Het
Slco5a1	T	A	1: 12,881,384	H565L	probably damaging	Het
Slit2	A	G	5: 48,176,123		probably benign	Het
Sulf1	A	G	1: 12,859,273	T255A	probably benign	Het
Tmem130	C	T	5: 144,755,427	G56R	possibly damaging	Het
Trmt1l	A	C	1: 151,435,738	Q116H	probably benign	Het
Ttn	A	T	2: 76,723,750	W30870R	probably damaging	Het
Unc13b	A	T	4: 43,173,973	L1600F	unknown	Het
Vmn1r233	C	T	17: 20,994,155	V178M	probably damaging	Het
Vmn2r18	G	A	5: 151,562,061	P656L	probably damaging	Het
Vmn2r33	A	T	7: 7,563,863	D83E	probably benign	Het
Vps13b	G	A	15: 35,879,913	V3045I	probably benign	Het
Wdr25	A	T	12: 109,011,057		probably null	Het
Xpo6	A	G	7: 126,120,444	V591A	probably benign	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
PIT4519001:Meioc	UTSW	11	102679957	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
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'- CTGGCCTGTCTGATATCATGAAAG -3'
(R):5'- GAATGCTGCTTCCTTTGCAAAC -3'

Sequencing Primer
(F):5'- CAGGAATTGATACTTATGCCTATGG -3'
(R):5'- GCAAACTGTTTTTCTGTCAGATG -3'

Posted On

2020-09-15