Mutagenetix > Incidental Mutations

Incidental Mutation 'R2857:Sycp3'

252499

Institutional Source

Beutler Lab

Gene Symbol

Sycp3

Ensembl Gene

ENSMUSG00000020059

Gene Name

synaptonemal complex protein 3

Synonyms

Scp3, Cor1

MMRRC Submission

040447-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.416) question?

Stock #

R2857 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88459569-88473236 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88467372 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 166 (E166G)

Ref Sequence

ENSEMBL: ENSMUSP00000137800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020252] [ENSMUST00000117440] [ENSMUST00000123244] [ENSMUST00000125612] [ENSMUST00000148899]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020252
AA Change: E166G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020252
Gene: ENSMUSG00000020059
AA Change: E166G

Domain	Start	End	E-Value	Type
low complexity region	42	53	N/A	INTRINSIC
Pfam:Cor1	101	229	6.1e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117440

SMART Domains

Protein: ENSMUSP00000112708
Gene: ENSMUSG00000060002

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
Pfam:CDP-OH_P_transf	61	136	8.8e-18	PFAM
transmembrane domain	159	181	N/A	INTRINSIC
transmembrane domain	191	213	N/A	INTRINSIC
transmembrane domain	226	248	N/A	INTRINSIC
transmembrane domain	263	282	N/A	INTRINSIC
transmembrane domain	295	317	N/A	INTRINSIC
transmembrane domain	349	371	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123244

SMART Domains

Protein: ENSMUSP00000137704
Gene: ENSMUSG00000020059

Domain	Start	End	E-Value	Type
low complexity region	42	53	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000125612
AA Change: E166G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137800
Gene: ENSMUSG00000020059
AA Change: E166G

Domain	Start	End	E-Value	Type
low complexity region	42	53	N/A	INTRINSIC
Pfam:Cor1	100	229	7.6e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134318

SMART Domains

Protein: ENSMUSP00000122428
Gene: ENSMUSG00000060002

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	109	131	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148899

SMART Domains

Protein: ENSMUSP00000120167
Gene: ENSMUSG00000060002

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC

Meta Mutation Damage Score

0.36

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and segregation of meiotic chromosomes. Mutations in this gene are associated with azoospermia in males and susceptibility to pregnancy loss in females. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutants are male infertile and female sub-fertile. Reduced litter size in females is due to achiasmatic oocytes, resulting in aneuploidy and embryonic death. Meiosis in males blocks at early prophase with lack of synaptonemal complexes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330087D11Rik	A	T	7: 29,573,878		noncoding transcript	Het
Amfr	A	T	8: 94,005,214	N11K	probably damaging	Het
Bpifa6	G	A	2: 153,989,274	M253I	probably benign	Het
C330018D20Rik	A	G	18: 56,962,459	L18P	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdh23	C	T	10: 60,382,653		probably null	Het
Ceacam1	T	A	7: 25,474,017	I249F	probably damaging	Het
Cfap54	C	T	10: 93,045,282	R348Q	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Cuzd1	C	T	7: 131,316,134	V246M	probably damaging	Het
Ehd2	A	T	7: 15,964,129	V61E	probably damaging	Het
Erich5	C	T	15: 34,471,414	T263I	probably damaging	Het
Fam71b	T	C	11: 46,405,212	I137T	probably damaging	Het
Fbxo36	A	G	1: 84,896,595	K104R	probably benign	Het
Fibin	C	T	2: 110,362,197	R200H	probably damaging	Het
Gad2	A	C	2: 22,673,975	M397L	probably benign	Het
Gm5724	A	G	6: 141,744,538	V163A	probably benign	Het
Iqgap3	C	A	3: 88,107,596	S873*	probably null	Het
Kcnh8	A	G	17: 52,977,933	D977G	probably benign	Het
Maats1	A	C	16: 38,302,713	L651R	probably damaging	Het
Mau2	T	C	8: 70,019,824	M570V	probably benign	Het
Mrgprb4	T	A	7: 48,198,336	R281S	possibly damaging	Het
Mthfd1	T	C	12: 76,288,925	Y258H	probably damaging	Het
Nexn	C	T	3: 152,248,043	E247K	probably damaging	Het
Olfr139	C	T	11: 74,044,827	G149D	possibly damaging	Het
Olfr311	T	A	11: 58,841,882	V256E	probably benign	Het
Olfr743	T	A	14: 50,533,440	N9K	probably benign	Het
Phrf1	T	A	7: 141,259,680		probably benign	Het
Prc1	A	G	7: 80,312,221	N52S	probably damaging	Het
Psd	G	C	19: 46,324,420	S170R	probably benign	Het
Riok1	T	C	13: 38,049,077	F229L	probably damaging	Het
Stat2	A	G	10: 128,276,901		probably null	Het
Szt2	G	A	4: 118,369,402	T510I	probably damaging	Het
Trank1	A	T	9: 111,366,933	T1342S	probably benign	Het
Trav3-1	C	A	14: 52,581,058	A63E	probably benign	Het
Trim34b	A	T	7: 104,336,232	N358I	probably benign	Het
Trmt11	G	C	10: 30,547,748	P387R	probably damaging	Het
Vmn2r82	T	A	10: 79,381,256	I474N	probably damaging	Het
Vrk2	C	A	11: 26,483,324	S286I	possibly damaging	Het
Wdfy3	A	T	5: 101,875,930	I2451N	probably benign	Het
Zfp326	G	A	5: 105,888,529	R102H	probably benign	Het

Other mutations in Sycp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02103:Sycp3	APN	10	88466472	missense	possibly damaging	0.65
IGL02402:Sycp3	APN	10	88466563	intron	probably benign
R1468:Sycp3	UTSW	10	88469592	missense	possibly damaging	0.75
R1468:Sycp3	UTSW	10	88469592	missense	possibly damaging	0.75
R2858:Sycp3	UTSW	10	88467372	missense	probably damaging	1.00
R2897:Sycp3	UTSW	10	88472682	missense	possibly damaging	0.92
R2898:Sycp3	UTSW	10	88472682	missense	possibly damaging	0.92
R4194:Sycp3	UTSW	10	88463375	missense	probably benign	0.01
R5683:Sycp3	UTSW	10	88472935	missense	probably damaging	1.00
R6882:Sycp3	UTSW	10	88472929	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCATGTGAGAAGACATCTGTTAAG -3'
(R):5'- ATGTACCTATACTTCTGGGGTTTACC -3'

Sequencing Primer
(F):5'- GAAATTTGACAGGATTCACTGT -3'
(R):5'- ATACTTCTGGGGTTTACCATTTGGC -3'

Posted On

2014-12-04