Mutagenetix > Incidental Mutations

Incidental Mutation 'R0027:Sycp1'

44500

Institutional Source

Beutler Lab

Gene Symbol

Sycp1

Ensembl Gene

ENSMUSG00000027855

Gene Name

synaptonemal complex protein 1

Synonyms

SCP1

MMRRC Submission

038322-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.514) question?

Stock #

R0027 (G1) of strain 730

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102818499-102936100 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102895910 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 528 (V528A)

Ref Sequence

ENSEMBL: ENSMUSP00000143651 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029448
AA Change: V528A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029448
Gene: ENSMUSG00000027855
AA Change: V528A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196988
AA Change: V528A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143651
Gene: ENSMUSG00000027855
AA Change: V528A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

98% (65/66)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	T	15: 11,285,873	I723F	probably damaging	Het
Anapc1	G	T	2: 128,641,511	D1221E	possibly damaging	Het
Arhgef28	T	A	13: 97,945,696	E1201V	possibly damaging	Het
Capn12	T	A	7: 28,881,960	H79Q	probably benign	Het
Caprin1	A	T	2: 103,775,580		probably benign	Het
Carmil3	T	A	14: 55,494,403	F196Y	probably damaging	Het
Casp8ap2	A	G	4: 32,643,810	H961R	probably benign	Het
Cdkl3	C	T	11: 52,032,349		probably benign	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Col13a1	A	G	10: 61,850,161	L684P	unknown	Het
D10Wsu102e	G	A	10: 83,364,529		probably benign	Het
D430041D05Rik	A	T	2: 104,255,044	F1053L	probably benign	Het
Dab1	T	C	4: 104,704,199		probably benign	Het
Dmxl1	A	T	18: 49,957,295		probably benign	Het
Dst	C	T	1: 34,189,119	P1606L	probably damaging	Het
E130309D02Rik	G	A	5: 143,308,062	T220I	probably damaging	Het
Eml1	T	C	12: 108,536,298	C708R	possibly damaging	Het
Fam131b	T	A	6: 42,318,248	M304L	probably benign	Het
Foxk1	A	T	5: 142,450,340	I321F	probably damaging	Het
Gm10306	C	T	4: 94,556,790		probably benign	Het
Gm10985	TA	TANA	3: 53,845,256		probably null	Het
Gse1	T	C	8: 120,566,546		probably benign	Het
Hcn3	A	G	3: 89,159,825	S79P	probably damaging	Het
Hspa4	T	A	11: 53,283,585	M203L	probably benign	Het
Kctd7	G	A	5: 130,152,573	R279H	probably damaging	Het
Kif11	C	T	19: 37,406,983		probably benign	Het
Klf13	T	C	7: 63,891,761	N206S	probably benign	Het
Kpna7	A	T	5: 144,989,697	Y482N	probably damaging	Het
Lamc1	T	C	1: 153,262,583	Y175C	probably damaging	Het
Lrpprc	G	A	17: 84,767,007	R491*	probably null	Het
Madd	T	A	2: 91,152,549	I1350F	probably damaging	Het
Mbtd1	T	C	11: 93,924,549	V321A	possibly damaging	Het
Mon2	G	A	10: 123,036,048	S357L	possibly damaging	Het
Ndst3	A	G	3: 123,671,513	V270A	probably damaging	Het
Nlrp2	T	C	7: 5,322,448	T742A	probably damaging	Het
Olfr214	T	C	6: 116,556,949	S175P	probably damaging	Het
Papola	A	C	12: 105,833,136	S675R	probably benign	Het
Pcdh9	T	A	14: 93,888,645	I30F	probably null	Het
Prl6a1	T	A	13: 27,318,028	L126Q	probably damaging	Het
Prr29	A	G	11: 106,376,276	E89G	possibly damaging	Het
Psmd1	T	C	1: 86,094,265		probably benign	Het
Rad9b	A	G	5: 122,351,723		probably benign	Het
Rest	T	C	5: 77,282,551	V939A	probably benign	Het
Rnf135	T	A	11: 80,193,942	S180R	probably benign	Het
Sarm1	C	A	11: 78,488,091	R376L	probably damaging	Het
Scap	C	A	9: 110,379,730	P613Q	probably benign	Het
Scube3	C	T	17: 28,164,357	R374*	probably null	Het
Setx	T	G	2: 29,139,221	V167G	probably damaging	Het
Snrnp40	T	A	4: 130,368,273	H151Q	probably damaging	Het
Sox21	G	T	14: 118,235,617	H7N	probably benign	Het
Stard9	A	T	2: 120,703,501	Q3413L	probably benign	Het
Tcl1b3	A	T	12: 105,191,239	S47C	probably damaging	Het
Treml4	T	C	17: 48,264,934	S122P	possibly damaging	Het
Trip11	C	T	12: 101,885,169	A879T	probably benign	Het
Ubr4	C	A	4: 139,400,393	N567K	probably damaging	Het
Zan	T	C	5: 137,406,519		probably benign	Het
Zfp804a	G	A	2: 82,257,200	D458N	probably damaging	Het
Zic2	T	C	14: 122,476,343	M223T	possibly damaging	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
IGL02270:Sycp1	APN	3	102895943	missense	probably benign	0.12
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
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
R7858:Sycp1	UTSW	3	102898957	missense	probably benign	0.09
R7909:Sycp1	UTSW	3	102820626	nonsense	probably null
R8109:Sycp1	UTSW	3	102851602	missense	probably benign	0.21
R8141:Sycp1	UTSW	3	102935569	missense	possibly damaging	0.73
R8289:Sycp1	UTSW	3	102841037	missense	probably benign	0.01
R8359:Sycp1	UTSW	3	102820593	missense	probably damaging	0.98

Predicted Primers

Posted On

2013-06-11