Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02270:Sycp1'

287110

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sycp1

Ensembl Gene

ENSMUSG00000027855

Gene Name

synaptonemal complex protein 1

Synonyms

SCP1

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.406) question?

Stock #

IGL02270

Quality Score

Status

Chromosome

Chromosomal Location

102818499-102936100 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 102895943 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 517 (C517F)

Ref Sequence

ENSEMBL: ENSMUSP00000143651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029448] [ENSMUST00000196988]

Predicted Effect

probably benign
Transcript: ENSMUST00000029448
AA Change: C517F

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000029448
Gene: ENSMUSG00000027855
AA Change: C517F

Domain	Start	End	E-Value	Type
Pfam:SCP-1	28	809	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196988
AA Change: C517F

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143651
Gene: ENSMUSG00000027855
AA Change: C517F

Domain	Start	End	E-Value	Type
Pfam:SCP-1	28	809	N/A	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display male and female infertility, azoospermia, small ovary, small testis and seminiferous tubules, absent ovarian follicles, and failure of synapse formation during meiosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,559,195		probably null	Het
Bmi1	T	A	2: 18,684,458	S318T	probably benign	Het
Cntnap5c	G	A	17: 58,034,853	V180I	probably benign	Het
Cyp2b10	A	G	7: 25,913,937	E186G	probably damaging	Het
Ddx25	G	T	9: 35,554,412		probably benign	Het
Dis3	A	G	14: 99,078,354	F901L	probably benign	Het
Dnah7a	T	A	1: 53,472,893	N3003I	possibly damaging	Het
Ebf2	A	G	14: 67,238,953	D124G	probably damaging	Het
Efcab5	A	T	11: 77,104,313	I1144N	probably damaging	Het
Exoc4	G	A	6: 33,580,026	V489I	possibly damaging	Het
Garem1	A	G	18: 21,148,450	V283A	probably damaging	Het
Gfra2	G	A	14: 70,925,907	R210H	possibly damaging	Het
Gli3	T	C	13: 15,726,786		probably benign	Het
Gm7247	A	T	14: 51,521,884	M107L	probably benign	Het
Map2k5	A	T	9: 63,322,197		probably null	Het
Mki67	C	T	7: 135,698,632	D1558N	probably damaging	Het
Mylk4	A	G	13: 32,729,066		probably benign	Het
Olfr1	A	G	11: 73,395,365	V219A	probably benign	Het
Olfr112	G	T	17: 37,563,580	H244N	possibly damaging	Het
Olfr2	A	T	7: 107,001,423	C146S	probably damaging	Het
Olfr669	A	G	7: 104,939,369	N281S	possibly damaging	Het
Plcd1	T	C	9: 119,084,641	T50A	probably damaging	Het
Rasgrp3	A	G	17: 75,516,373	R480G	probably benign	Het
Ripor3	T	C	2: 167,993,496	E185G	probably damaging	Het
S1pr3	T	C	13: 51,419,056	I91T	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc28a3	T	C	13: 58,580,584	T104A	probably benign	Het
Slc6a11	A	G	6: 114,238,396	D419G	probably damaging	Het
St3gal2	A	G	8: 110,957,766	I19V	probably benign	Het
Trav15-1-dv6-1	G	A	14: 53,559,998	E35K	possibly damaging	Het
Vmn1r121	T	C	7: 21,098,476	E13G	probably damaging	Het
Vmn1r199	T	A	13: 22,383,006	S114T	probably damaging	Het
Vmn2r-ps159	T	C	4: 156,334,655		noncoding transcript	Het

Other mutations in Sycp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Sycp1	APN	3	102840962	missense	probably benign
IGL00833:Sycp1	APN	3	102876301	critical splice donor site	probably null
IGL01066:Sycp1	APN	3	102920634	missense	probably damaging	1.00
IGL01484:Sycp1	APN	3	102915867	missense	probably benign	0.01
IGL02139:Sycp1	APN	3	102865114	missense	probably benign	0.00
IGL02347:Sycp1	APN	3	102893547	missense	probably benign	0.00
IGL02630:Sycp1	APN	3	102878764	splice site	probably benign
IGL02668:Sycp1	APN	3	102820531	splice site	probably benign
IGL02928:Sycp1	APN	3	102818818	utr 3 prime	probably benign
PIT4458001:Sycp1	UTSW	3	102934833	missense	probably benign	0.01
R0027:Sycp1	UTSW	3	102895910	missense	probably benign
R0282:Sycp1	UTSW	3	102915795	splice site	probably benign
R0462:Sycp1	UTSW	3	102819106	missense	possibly damaging	0.75
R0609:Sycp1	UTSW	3	102898849	splice site	probably null
R0837:Sycp1	UTSW	3	102915245	missense	probably benign	0.17
R1301:Sycp1	UTSW	3	102920622	missense	probably benign	0.02
R2408:Sycp1	UTSW	3	102925259	missense	probably damaging	1.00
R2449:Sycp1	UTSW	3	102925206	missense	probably benign	0.15
R2516:Sycp1	UTSW	3	102845066	missense	probably benign	0.09
R2880:Sycp1	UTSW	3	102818898	missense	probably damaging	0.99
R3410:Sycp1	UTSW	3	102841041	missense	possibly damaging	0.94
R3427:Sycp1	UTSW	3	102876350	missense	probably benign	0.00
R4538:Sycp1	UTSW	3	102840962	missense	probably benign
R4679:Sycp1	UTSW	3	102922462	critical splice acceptor site	probably null
R4707:Sycp1	UTSW	3	102853489	missense	possibly damaging	0.92
R4785:Sycp1	UTSW	3	102853489	missense	possibly damaging	0.92
R5017:Sycp1	UTSW	3	102895987	splice site	probably null
R5036:Sycp1	UTSW	3	102820600	missense	probably damaging	1.00
R5044:Sycp1	UTSW	3	102845054	missense	probably benign	0.03
R5070:Sycp1	UTSW	3	102920565	missense	probably damaging	0.97
R5079:Sycp1	UTSW	3	102878800	missense	possibly damaging	0.67
R5289:Sycp1	UTSW	3	102934253	missense	possibly damaging	0.85
R5393:Sycp1	UTSW	3	102841047	splice site	probably null
R5477:Sycp1	UTSW	3	102818890	missense	probably damaging	1.00
R5576:Sycp1	UTSW	3	102818902	missense	probably damaging	0.98
R5814:Sycp1	UTSW	3	102895897	missense	probably benign	0.03
R6291:Sycp1	UTSW	3	102908961	missense	probably damaging	1.00
R6460:Sycp1	UTSW	3	102925253	missense	probably damaging	1.00
R6527:Sycp1	UTSW	3	102898887	missense	probably benign	0.09
R6870:Sycp1	UTSW	3	102935603	missense	probably damaging	1.00
R6873:Sycp1	UTSW	3	102840980	missense	probably benign
R7037:Sycp1	UTSW	3	102898934	missense	possibly damaging	0.62
R7210:Sycp1	UTSW	3	102853492	missense	probably damaging	1.00
R7405:Sycp1	UTSW	3	102925227	missense	possibly damaging	0.72
R7604:Sycp1	UTSW	3	102913433	missense	probably damaging	0.98
R7733:Sycp1	UTSW	3	102895962	missense	probably benign	0.00

Posted On

2015-04-16