Mutagenetix > Incidental Mutation

Incidental Mutation 'R5532:Syce2'

436223

Institutional Source

Beutler Lab

Gene Symbol

Syce2

Ensembl Gene

ENSMUSG00000003824

Gene Name

synaptonemal complex central element protein 2

Synonyms

1700013H19Rik

MMRRC Submission

043090-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5532 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85598740-85614075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85610131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 73 (Q73L)

Ref Sequence

ENSEMBL: ENSMUSP00000131438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003907] [ENSMUST00000003922] [ENSMUST00000109745] [ENSMUST00000136026] [ENSMUST00000170296]

AlphaFold

Q505B8

Predicted Effect

probably benign
Transcript: ENSMUST00000003907

SMART Domains

Protein: ENSMUSP00000003907
Gene: ENSMUSG00000003809

Domain	Start	End	E-Value	Type
low complexity region	2	24	N/A	INTRINSIC
Pfam:Acyl-CoA_dh_N	61	172	1.5e-29	PFAM
Pfam:Acyl-CoA_dh_M	176	269	3.8e-22	PFAM
Pfam:Acyl-CoA_dh_1	287	429	2.9e-30	PFAM
Pfam:Acyl-CoA_dh_2	295	418	3.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000003922

Predicted Effect

probably benign
Transcript: ENSMUST00000109745

SMART Domains

Protein: ENSMUSP00000105367
Gene: ENSMUSG00000003809

Domain	Start	End	E-Value	Type
low complexity region	2	24	N/A	INTRINSIC
Pfam:Acyl-CoA_dh_N	61	172	8.2e-28	PFAM
Pfam:Acyl-CoA_dh_M	176	230	2.2e-21	PFAM
low complexity region	269	280	N/A	INTRINSIC
Pfam:Acyl-CoA_dh_1	287	429	2.6e-30	PFAM
Pfam:Acyl-CoA_dh_2	295	418	2.1e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000136026
AA Change: Q67L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122159
Gene: ENSMUSG00000003824
AA Change: Q67L

Domain	Start	End	E-Value	Type
coiled coil region	52	83	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144466

Predicted Effect

probably damaging
Transcript: ENSMUST00000170296
AA Change: Q73L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000131438
Gene: ENSMUSG00000003824
AA Change: Q73L

Domain	Start	End	E-Value	Type
coiled coil region	58	89	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the synaptonemal complex formed between homologous chromosomes during meiotic prophase. The encoded protein associates with SYCP1 and SYCE1 and is found only where chromosome cores are synapsed. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homogyzous for a null mutation are infertile with decreases in testis and ovary weights, arrest of spermatogenesis, and abnormal meiosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,530,293 (GRCm39)		probably null	Het
Adsl	C	G	15: 80,848,110 (GRCm39)	P118A	probably damaging	Het
Ano6	C	T	15: 95,860,122 (GRCm39)	P748L	probably damaging	Het
Arhgap10	A	T	8: 78,146,701 (GRCm39)	N234K	probably benign	Het
Arhgap18	T	A	10: 26,722,104 (GRCm39)	I25K	possibly damaging	Het
AW551984	T	C	9: 39,508,481 (GRCm39)	Y345C	probably damaging	Het
Ccdc146	A	G	5: 21,510,329 (GRCm39)	V561A	probably benign	Het
Cenpv	G	A	11: 62,418,398 (GRCm39)	T185M	probably damaging	Het
Fat2	T	A	11: 55,153,163 (GRCm39)	D3683V	probably damaging	Het
Galns	T	C	8: 123,311,765 (GRCm39)	D415G	possibly damaging	Het
Gatad2a	G	A	8: 70,369,070 (GRCm39)	T259M	probably damaging	Het
Gja8	T	C	3: 96,827,648 (GRCm39)	S5G	probably benign	Het
Ifi209	T	C	1: 173,466,542 (GRCm39)	S125P	probably damaging	Het
Iigp1c	A	G	18: 60,379,142 (GRCm39)	I226V	probably benign	Het
Il12rb2	G	A	6: 67,269,246 (GRCm39)	R856W	probably damaging	Het
Kcnq3	A	T	15: 65,869,622 (GRCm39)	Y605*	probably null	Het
Klk1b16	T	C	7: 43,790,950 (GRCm39)	S251P	probably benign	Het
Map2	A	G	1: 66,453,779 (GRCm39)	N890D	probably damaging	Het
Map4	T	A	9: 109,863,746 (GRCm39)	S324T	probably benign	Het
Mmp28	T	C	11: 83,333,684 (GRCm39)	D419G	probably damaging	Het
Mtnr1b	A	G	9: 15,774,210 (GRCm39)	L283P	probably benign	Het
Ndufb7	T	A	8: 84,298,063 (GRCm39)	Y95N	probably damaging	Het
Nfrkb	C	T	9: 31,309,075 (GRCm39)	R280W	probably damaging	Het
Npc1l1	A	G	11: 6,174,245 (GRCm39)	Y687H	probably damaging	Het
Or6f1	A	C	7: 85,970,879 (GRCm39)	F94V	possibly damaging	Het
Or8b40	C	T	9: 38,027,923 (GRCm39)	T277I	probably benign	Het
Or8g51	T	C	9: 38,608,943 (GRCm39)	T240A	probably damaging	Het
Or8h9	T	A	2: 86,788,924 (GRCm39)	R293*	probably null	Het
Pabpc4l	T	C	3: 46,401,044 (GRCm39)	D200G	probably benign	Het
Plekhg6	T	C	6: 125,349,514 (GRCm39)	E361G	possibly damaging	Het
Pramel31	A	T	4: 144,090,061 (GRCm39)	D367V	probably damaging	Het
Rictor	A	G	15: 6,819,046 (GRCm39)	Y1423C	probably damaging	Het
Rsf1	G	A	7: 97,329,902 (GRCm39)	D1143N	probably damaging	Het
Spsb4	C	T	9: 96,877,627 (GRCm39)		probably null	Het
Strada	G	T	11: 106,061,843 (GRCm39)	A136E	probably damaging	Het
Teddm2	A	T	1: 153,726,130 (GRCm39)	V195D	probably benign	Het
Tex36	A	T	7: 133,203,712 (GRCm39)	N12K	probably benign	Het
Ubtf	A	G	11: 102,199,785 (GRCm39)	S484P	probably benign	Het
Ufd1	T	G	16: 18,636,680 (GRCm39)	L66R	probably damaging	Het
Vmn2r74	C	T	7: 85,601,197 (GRCm39)	A814T	probably benign	Het
Vmn2r98	T	C	17: 19,287,645 (GRCm39)	S493P	possibly damaging	Het
Xrcc1	T	A	7: 24,267,353 (GRCm39)		probably null	Het
Zfp277	A	C	12: 40,385,308 (GRCm39)	C305G	probably damaging	Het
Zfp998	A	T	13: 66,579,740 (GRCm39)	C248S	probably damaging	Het

Other mutations in Syce2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1734:Syce2	UTSW	8	85,613,776 (GRCm39)	missense	probably benign	0.12
R6306:Syce2	UTSW	8	85,599,371 (GRCm39)	missense	possibly damaging	0.92
R8506:Syce2	UTSW	8	85,613,795 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCATATATTCTCCCACTGAGCTC -3'
(R):5'- GCAAAGTGCCTGCCTAACAG -3'

Sequencing Primer
(F):5'- CTGGGATTTGAACTCAGGACC -3'
(R):5'- CAGAGTGCCTGGAAGCTAAC -3'

Posted On

2016-10-24