Mutagenetix > Incidental Mutation

Incidental Mutation 'R1169:Syce1'

101493

Institutional Source

Beutler Lab

Gene Symbol

Syce1

Ensembl Gene

ENSMUSG00000025480

Gene Name

synaptonemal complex central element protein 1

Synonyms

4933406J07Rik

MMRRC Submission

039242-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140357142-140367765 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140358120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 255 (F255S)

Ref Sequence

ENSEMBL: ENSMUSP00000026553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026552] [ENSMUST00000026553] [ENSMUST00000209253] [ENSMUST00000210235] [ENSMUST00000211616]

AlphaFold

Q9D495

Predicted Effect

probably benign
Transcript: ENSMUST00000026552

SMART Domains

Protein: ENSMUSP00000026552
Gene: ENSMUSG00000025479

Domain	Start	End	E-Value	Type
transmembrane domain	2	23	N/A	INTRINSIC
Pfam:p450	33	489	1.4e-147	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026553
AA Change: F255S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000026553
Gene: ENSMUSG00000025480
AA Change: F255S

Domain	Start	End	E-Value	Type
Pfam:SYCE1	49	200	5.5e-66	PFAM
coiled coil region	237	294	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209253

Predicted Effect

probably benign
Transcript: ENSMUST00000210235

Predicted Effect

probably benign
Transcript: ENSMUST00000211616

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the synaptonemal complex, which links homologous chromosomes during prophase I of meiosis. The tripartite structure of the complex is highly conserved amongst metazoans. It consists of two lateral elements and a central region formed by transverse elements and a central element. The protein encoded by this gene localizes to the central element and is required for initiation and elongation of the synapsis. Allelic variants of this gene have been associated with premature ovarian failure and spermatogenic failure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit small ovaries and small testes, severe defects in gametogenesis, and infertility in both sexes. Meiosis is arrested, homologous chromosomes fail to synapse, and meiotic double-strand breaks are formed but are notefficiently repaired. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	T	C	10: 80,419,781 (GRCm39)	E275G	probably damaging	Het
Adam10	T	A	9: 70,653,574 (GRCm39)	I123N	probably damaging	Het
Adam8	A	T	7: 139,563,842 (GRCm39)	L715Q	probably benign	Het
Adcyap1r1	T	A	6: 55,471,101 (GRCm39)	F418L	probably damaging	Het
Ankrd50	A	T	3: 38,508,401 (GRCm39)	I1322K	probably damaging	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
Atxn7	T	C	14: 14,095,468 (GRCm38)	S389P	possibly damaging	Het
C4b	A	T	17: 34,961,946 (GRCm39)	L100Q	probably benign	Het
Cacul1	G	A	19: 60,568,846 (GRCm39)	A104V	probably damaging	Het
Camsap3	T	C	8: 3,653,866 (GRCm39)	F512S	probably damaging	Het
Casp1	T	C	9: 5,299,454 (GRCm39)	V61A	possibly damaging	Het
Cfap251	GGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGA	5: 123,392,673 (GRCm39)		probably benign	Het
Chd1	T	A	17: 15,955,994 (GRCm39)	F531Y	probably damaging	Het
Clec2h	C	T	6: 128,651,758 (GRCm39)	Q156*	probably null	Het
Clip2	T	A	5: 134,521,104 (GRCm39)	E978V	probably benign	Het
Cnpy2	T	G	10: 128,159,465 (GRCm39)	L34R	probably damaging	Het
Cog6	A	T	3: 52,921,265 (GRCm39)	C114S	probably benign	Het
Col6a3	A	T	1: 90,749,736 (GRCm39)	V366E	possibly damaging	Het
Col6a5	A	G	9: 105,774,173 (GRCm39)		probably null	Het
Cplx3	T	C	9: 57,517,278 (GRCm39)	T369A	probably damaging	Het
Dmbt1	G	A	7: 130,676,254 (GRCm39)		probably null	Het
Dok1	A	G	6: 83,009,029 (GRCm39)	F218L	possibly damaging	Het
Dph7	T	A	2: 24,856,583 (GRCm39)	N178K	probably benign	Het
Enam	A	T	5: 88,651,117 (GRCm39)	E800D	probably damaging	Het
Fads3	A	T	19: 10,031,463 (GRCm39)	Q205L	possibly damaging	Het
Fbxo44	T	C	4: 148,240,433 (GRCm39)	H265R	probably benign	Het
Gli1	T	A	10: 127,174,320 (GRCm39)	S24C	probably damaging	Het
Gm4894	T	A	9: 49,185,526 (GRCm39)	C43*	probably null	Het
Gpbp1l1	C	T	4: 116,431,563 (GRCm39)	H74Y	possibly damaging	Het
H2-Eb2	T	A	17: 34,552,331 (GRCm39)	F59I	possibly damaging	Het
Hspa14	T	C	2: 3,499,161 (GRCm39)	N211S	possibly damaging	Het
Ifnlr1	T	G	4: 135,432,419 (GRCm39)	F285C	probably benign	Het
Igf1r	G	T	7: 67,814,875 (GRCm39)	V259L	probably benign	Het
Igf2bp2	A	T	16: 21,897,480 (GRCm39)	Y244*	probably null	Het
Ighg2c	A	T	12: 113,249,572 (GRCm39)		probably benign	Het
Ighv8-14	A	T	12: 115,772,075 (GRCm39)		probably null	Het
Iqsec2	A	G	X: 150,927,727 (GRCm39)	S87G	probably benign	Het
Itsn2	A	G	12: 4,689,694 (GRCm39)	K589R	probably damaging	Het
Khdc1a	A	C	1: 21,420,495 (GRCm39)	E38D	possibly damaging	Het
Krt42	T	G	11: 100,154,171 (GRCm39)		probably null	Het
Lpo	T	C	11: 87,708,143 (GRCm39)	N183S	possibly damaging	Het
Lrrc3	T	A	10: 77,736,764 (GRCm39)	Y224F	probably damaging	Het
Ly6g6f	T	A	17: 35,302,240 (GRCm39)	D99V	probably damaging	Het
Lyplal1	T	C	1: 185,846,531 (GRCm39)	I42V	probably benign	Het
Mis18bp1	G	A	12: 65,190,057 (GRCm39)	Q793*	probably null	Het
Myh10	T	G	11: 68,653,667 (GRCm39)	M346R	probably damaging	Het
Nav1	G	T	1: 135,382,943 (GRCm39)	H1256Q	probably damaging	Het
Nbea	A	G	3: 55,875,744 (GRCm39)	V1642A	probably benign	Het
Or4d6	C	T	19: 12,086,853 (GRCm39)	R19H	probably benign	Het
Or8b12i	T	C	9: 20,082,354 (GRCm39)	N171S	probably benign	Het
Or8i2	A	G	2: 86,852,061 (GRCm39)	F276L	probably damaging	Het
Or8k28	A	G	2: 86,285,931 (GRCm39)	I228T	possibly damaging	Het
Orm3	G	A	4: 63,276,085 (GRCm39)	V166M	probably damaging	Het
Oxct1	T	A	15: 4,120,708 (GRCm39)	I264N	probably damaging	Het
Paox	G	A	7: 139,706,244 (GRCm39)	V55I	probably benign	Het
Pde4d	C	A	13: 110,087,462 (GRCm39)		probably null	Het
Pnliprp1	A	G	19: 58,723,383 (GRCm39)	N258S	probably damaging	Het
Potegl	A	G	2: 23,146,994 (GRCm39)	K275E	possibly damaging	Het
Prl7b1	C	A	13: 27,790,887 (GRCm39)	R66L	possibly damaging	Het
Ptpre	G	T	7: 135,269,341 (GRCm39)	C261F	probably benign	Het
Rho	C	G	6: 115,909,199 (GRCm39)	N78K	probably damaging	Het
Rnf17	A	G	14: 56,751,622 (GRCm39)	N1487D	possibly damaging	Het
Ryr3	G	A	2: 112,563,359 (GRCm39)	T2922I	probably benign	Het
Saxo2	A	C	7: 82,284,379 (GRCm39)	F160V	possibly damaging	Het
Sbf2	A	T	7: 109,909,391 (GRCm39)	Y1786N	probably benign	Het
Sdad1	A	T	5: 92,446,092 (GRCm39)	V280E	probably benign	Het
Sgsm1	T	C	5: 113,427,351 (GRCm39)	D90G	probably damaging	Het
Siglec1	A	T	2: 130,916,747 (GRCm39)	D1169E	probably damaging	Het
Sim1	T	A	10: 50,857,618 (GRCm39)	V456E	probably benign	Het
Skint8	T	A	4: 111,785,710 (GRCm39)	I52N	possibly damaging	Het
Slc27a1	C	A	8: 72,033,297 (GRCm39)	R280S	probably benign	Het
Slc9a3	G	A	13: 74,298,862 (GRCm39)	V94I	probably damaging	Het
Sorcs2	C	A	5: 36,185,269 (GRCm39)	V936L	possibly damaging	Het
Tmc7	G	A	7: 118,150,483 (GRCm39)	S350L	probably benign	Het
Tmem200a	T	A	10: 25,870,246 (GRCm39)	I8F	probably damaging	Het
Trip6	T	C	5: 137,310,182 (GRCm39)	H322R	probably benign	Het
Vmn2r72	A	T	7: 85,400,517 (GRCm39)	N177K	probably benign	Het

Other mutations in Syce1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02112:Syce1	APN	7	140,359,545 (GRCm39)	missense	probably benign
IGL03304:Syce1	APN	7	140,357,623 (GRCm39)	missense	possibly damaging	0.67
R0918:Syce1	UTSW	7	140,360,436 (GRCm39)	missense	probably damaging	1.00
R1106:Syce1	UTSW	7	140,359,809 (GRCm39)	missense	probably damaging	1.00
R1430:Syce1	UTSW	7	140,359,351 (GRCm39)	unclassified	probably benign
R1436:Syce1	UTSW	7	140,357,593 (GRCm39)	missense	possibly damaging	0.84
R1650:Syce1	UTSW	7	140,358,300 (GRCm39)	missense	possibly damaging	0.62
R2081:Syce1	UTSW	7	140,359,809 (GRCm39)	missense	probably damaging	1.00
R2082:Syce1	UTSW	7	140,359,809 (GRCm39)	missense	probably damaging	1.00
R3890:Syce1	UTSW	7	140,359,809 (GRCm39)	missense	probably damaging	1.00
R3891:Syce1	UTSW	7	140,359,809 (GRCm39)	missense	probably damaging	1.00
R4006:Syce1	UTSW	7	140,359,809 (GRCm39)	missense	probably damaging	1.00
R4007:Syce1	UTSW	7	140,359,809 (GRCm39)	missense	probably damaging	1.00
R4077:Syce1	UTSW	7	140,359,809 (GRCm39)	missense	probably damaging	1.00
R4078:Syce1	UTSW	7	140,359,809 (GRCm39)	missense	probably damaging	1.00
R4079:Syce1	UTSW	7	140,359,809 (GRCm39)	missense	probably damaging	1.00
R4817:Syce1	UTSW	7	140,358,336 (GRCm39)	missense	probably benign	0.00
R4824:Syce1	UTSW	7	140,359,809 (GRCm39)	missense	probably damaging	1.00
R5040:Syce1	UTSW	7	140,358,978 (GRCm39)	missense	probably damaging	1.00
R5766:Syce1	UTSW	7	140,357,894 (GRCm39)	missense	probably damaging	1.00
R6380:Syce1	UTSW	7	140,358,978 (GRCm39)	missense	probably damaging	1.00
R7048:Syce1	UTSW	7	140,359,281 (GRCm39)	missense	possibly damaging	0.73
R8681:Syce1	UTSW	7	140,361,987 (GRCm39)	missense	possibly damaging	0.58
Y4338:Syce1	UTSW	7	140,359,809 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15