Mutagenetix > Incidental Mutation

Incidental Mutation 'R8681:Syce1'

661748

Institutional Source

Beutler Lab

Gene Symbol

Syce1

Ensembl Gene

ENSMUSG00000025480

Gene Name

synaptonemal complex central element protein 1

Synonyms

4933406J07Rik

MMRRC Submission

068536-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8681 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140357142-140367765 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140361987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 32 (T32I)

Ref Sequence

ENSEMBL: ENSMUSP00000026553 (fasta)

Gene Model

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

AlphaFold

Q9D495

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026553
AA Change: T32I

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026553
Gene: ENSMUSG00000025480
AA Change: T32I

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: ENSMUST00000211616

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.0%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,231,908 (GRCm39)	V1347A	possibly damaging	Het
Adam32	G	A	8: 25,327,811 (GRCm39)	T750I	unknown	Het
Adcy1	T	C	11: 7,111,328 (GRCm39)	I873T	probably damaging	Het
Aebp1	A	G	11: 5,817,899 (GRCm39)	D438G	probably null	Het
Anks1b	T	A	10: 89,885,868 (GRCm39)	M188K	probably damaging	Het
Aopep	T	C	13: 63,338,373 (GRCm39)	F583S	probably damaging	Het
Arhgef18	A	G	8: 3,439,074 (GRCm39)	Y477C	unknown	Het
Cep112	T	C	11: 108,316,478 (GRCm39)		probably null	Het
Clu	T	C	14: 66,218,406 (GRCm39)	V422A	probably damaging	Het
Cntrl	T	C	2: 35,038,600 (GRCm39)	L1050P	probably damaging	Het
Col23a1	A	T	11: 51,458,756 (GRCm39)	T298S	possibly damaging	Het
Cyp26c1	A	T	19: 37,675,065 (GRCm39)	T129S	probably damaging	Het
Cyp2c38	A	C	19: 39,390,135 (GRCm39)	V355G	possibly damaging	Het
Cyp4a30b	G	A	4: 115,314,942 (GRCm39)	V175M	possibly damaging	Het
Cyp7a1	A	T	4: 6,271,207 (GRCm39)	N316K	probably benign	Het
Dcaf17	T	A	2: 70,886,913 (GRCm39)	Y67*	probably null	Het
Dll3	T	C	7: 27,994,270 (GRCm39)	D389G	probably damaging	Het
Fbxo33	A	G	12: 59,265,830 (GRCm39)	F146L	probably benign	Het
Gm10118	C	T	10: 63,762,756 (GRCm39)	V61M	unknown	Het
Gm9611	T	C	14: 42,118,026 (GRCm39)	D102G		Het
Grik5	G	A	7: 24,709,897 (GRCm39)	A946V	probably benign	Het
Il17c	A	G	8: 123,150,207 (GRCm39)	D150G	possibly damaging	Het
Ino80e	A	G	7: 126,460,893 (GRCm39)	L22P	probably damaging	Het
Kcnh2	G	T	5: 24,536,981 (GRCm39)	T201K	probably benign	Het
Klrb1	A	C	6: 128,687,012 (GRCm39)	N173K	possibly damaging	Het
Kmt2d	T	A	15: 98,743,948 (GRCm39)	Q3737H	unknown	Het
Lemd3	T	C	10: 120,767,728 (GRCm39)	D682G	possibly damaging	Het
Lilra5	T	C	7: 4,241,216 (GRCm39)	V51A	probably benign	Het
Lrrc25	G	A	8: 71,070,314 (GRCm39)	V32I	possibly damaging	Het
Mdh1b	T	A	1: 63,754,360 (GRCm39)	M403L	probably benign	Het
Mms19	G	A	19: 41,937,915 (GRCm39)	L765F	probably damaging	Het
Msx3	T	A	7: 139,628,900 (GRCm39)	T5S	probably benign	Het
Myh13	A	C	11: 67,242,960 (GRCm39)	I958L	possibly damaging	Het
Myo18b	T	A	5: 113,021,429 (GRCm39)		probably null	Het
Myo9a	G	A	9: 59,775,394 (GRCm39)	V1002I	probably benign	Het
Neb	T	C	2: 52,127,048 (GRCm39)	K379R	probably damaging	Het
Nsmce2	A	G	15: 59,473,208 (GRCm39)	S216G	probably benign	Het
Odad1	A	G	7: 45,591,263 (GRCm39)	E246G	probably damaging	Het
Or11h7	A	T	14: 50,890,801 (GRCm39)	M36L	probably benign	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Pkp2	A	T	16: 16,048,545 (GRCm39)	M317L	probably benign	Het
Pogz	T	A	3: 94,768,234 (GRCm39)	H137Q	probably damaging	Het
Prrx2	G	T	2: 30,735,519 (GRCm39)	D25Y	unknown	Het
Ptprf	T	C	4: 118,088,844 (GRCm39)	D653G	probably benign	Het
Rps6kl1	T	A	12: 85,194,629 (GRCm39)	E94V	probably damaging	Het
Slc44a1	A	T	4: 53,481,510 (GRCm39)	D27V	probably damaging	Het
Slc44a4	A	G	17: 35,147,253 (GRCm39)	I549V	possibly damaging	Het
Slc8a3	T	C	12: 81,361,914 (GRCm39)	T302A	probably benign	Het
Spic	T	A	10: 88,511,847 (GRCm39)	K136N	possibly damaging	Het
Stk36	T	C	1: 74,661,392 (GRCm39)	L473P	probably damaging	Het
Tars2	G	A	3: 95,658,199 (GRCm39)	Q209*	probably null	Het
Tmem9b	A	G	7: 109,344,527 (GRCm39)	V100A	probably benign	Het
Vmn1r67	A	G	7: 10,181,128 (GRCm39)	I131V	probably benign	Het
Vmn2r26	C	T	6: 124,001,877 (GRCm39)	T54I	probably benign	Het
Zfp142	T	C	1: 74,610,747 (GRCm39)	E1016G	probably damaging	Het
Zfp773	T	C	7: 7,139,482 (GRCm39)	T56A	possibly damaging	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
R1169:Syce1	UTSW	7	140,358,120 (GRCm39)	missense	probably benign	0.00
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
Y4338:Syce1	UTSW	7	140,359,809 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATCATGACTCCCTTTTAGTTCAAA -3'
(R):5'- GGAAGGGCCCAGTTCACT -3'

Sequencing Primer
(F):5'- GCATCAGATCTCCTAGAATTGGGC -3'
(R):5'- GGTCTGTCCTCAGCTAAT -3'

Posted On

2021-03-08