Mutagenetix > Incidental Mutation

Incidental Mutation 'R1734:Syce2'

199574

Institutional Source

Beutler Lab

Gene Symbol

Syce2

Ensembl Gene

ENSMUSG00000003824

Gene Name

synaptonemal complex central element protein 2

Synonyms

1700013H19Rik

MMRRC Submission

039766-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85598740-85614075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85613776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 168 (E168K)

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 benign
Transcript: ENSMUST00000136026
AA Change: E162K

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122159
Gene: ENSMUSG00000003824
AA Change: E162K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136462

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144466

Predicted Effect

probably benign
Transcript: ENSMUST00000170296
AA Change: E168K

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000131438
Gene: ENSMUSG00000003824
AA Change: E168K

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

Meta Mutation Damage Score

0.0934

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (59/60)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	T	4: 144,396,596 (GRCm39)	C379S	probably benign	Het
Abca13	T	C	11: 9,535,460 (GRCm39)	C4695R	probably benign	Het
Actr10	T	A	12: 71,008,770 (GRCm39)	V401E	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Aimp1	A	T	3: 132,380,557 (GRCm39)	I59K	probably damaging	Het
Alms1	T	A	6: 85,618,532 (GRCm39)		probably null	Het
Anln	A	T	9: 22,262,251 (GRCm39)	S947T	possibly damaging	Het
Atp2c1	T	C	9: 105,291,854 (GRCm39)	T733A	probably damaging	Het
BC049715	C	T	6: 136,817,306 (GRCm39)	P182L	probably damaging	Het
Cblb	T	C	16: 52,006,603 (GRCm39)		probably benign	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Chac1	A	T	2: 119,183,939 (GRCm39)	L180F	probably damaging	Het
Cherp	A	T	8: 73,223,932 (GRCm39)		probably null	Het
Ckap4	A	G	10: 84,363,738 (GRCm39)	S442P	probably benign	Het
Clstn3	G	A	6: 124,413,773 (GRCm39)		probably benign	Het
Crb2	T	A	2: 37,683,668 (GRCm39)	C1057S	probably damaging	Het
Dact2	T	C	17: 14,416,901 (GRCm39)	D433G	probably benign	Het
Dnah6	G	A	6: 73,021,744 (GRCm39)	T3526M	probably damaging	Het
Ethe1	A	G	7: 24,307,809 (GRCm39)	T210A	probably benign	Het
Fat2	A	G	11: 55,172,197 (GRCm39)	S2839P	probably benign	Het
Fbxl7	T	C	15: 26,543,735 (GRCm39)	Y304C	probably damaging	Het
Gad1-ps	A	T	10: 99,281,637 (GRCm39)		noncoding transcript	Het
Grm3	C	T	5: 9,639,742 (GRCm39)	R101K	probably benign	Het
Hspa12b	A	G	2: 130,980,456 (GRCm39)	Y125C	possibly damaging	Het
Il10ra	T	C	9: 45,167,241 (GRCm39)	T437A	probably benign	Het
Itprid2	G	A	2: 79,488,166 (GRCm39)	V750M	probably damaging	Het
Jcad	T	C	18: 4,674,526 (GRCm39)	F763L	probably damaging	Het
Map3k10	T	C	7: 27,357,540 (GRCm39)	D746G	probably damaging	Het
Mettl9	T	A	7: 120,647,064 (GRCm39)	Y57N	probably damaging	Het
Nav2	G	A	7: 49,225,468 (GRCm39)	E1803K	probably damaging	Het
Nol11	G	A	11: 107,066,449 (GRCm39)	S447L	possibly damaging	Het
Or14a256	C	T	7: 86,265,425 (GRCm39)	V143M	probably benign	Het
Osbpl1a	T	C	18: 12,921,373 (GRCm39)		probably null	Het
Pde6a	A	G	18: 61,419,036 (GRCm39)	N804S	probably damaging	Het
Pepd	A	T	7: 34,730,851 (GRCm39)	D301V	probably benign	Het
Piwil2	A	T	14: 70,663,954 (GRCm39)		probably null	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prrc2a	A	G	17: 35,369,683 (GRCm39)	S1877P	possibly damaging	Het
Retreg2	G	T	1: 75,119,630 (GRCm39)		probably null	Het
Slc7a11	G	A	3: 50,326,795 (GRCm39)	Q489*	probably null	Het
Sned1	G	A	1: 93,187,490 (GRCm39)	D256N	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Spmip9	T	A	6: 70,890,645 (GRCm39)	Q49L	probably benign	Het
Tmem260	G	T	14: 48,746,550 (GRCm39)	V609L	probably benign	Het
Trim35	A	G	14: 66,546,778 (GRCm39)	D515G	probably damaging	Het
Tspan5	T	C	3: 138,603,901 (GRCm39)	Y131H	probably damaging	Het
Ttbk2	T	C	2: 120,586,319 (GRCm39)	I466V	probably benign	Het
Ttn	T	C	2: 76,576,157 (GRCm39)	D24912G	probably damaging	Het
Utp20	A	T	10: 88,603,323 (GRCm39)	N1843K	probably damaging	Het
Vmn1r20	A	G	6: 57,409,285 (GRCm39)	R204G	probably damaging	Het
Vps18	A	T	2: 119,124,423 (GRCm39)	Q450L	probably benign	Het
Zbtb4	A	G	11: 69,667,289 (GRCm39)	E198G	probably benign	Het

Other mutations in Syce2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5532:Syce2	UTSW	8	85,610,131 (GRCm39)	missense	probably damaging	1.00
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'- TCACTTGCCAACCGTGAATGCC -3'
(R):5'- TGCCCCAATGACAGGATTTGAACC -3'

Sequencing Primer
(F):5'- CGTGAATGCCTGAATCCCAG -3'
(R):5'- AAGGACCAGCCATGTTTTTGC -3'

Posted On

2014-05-23