Mutagenetix > Incidental Mutations

Incidental Mutation 'R8844:Sycp1'

674584

Institutional Source

Beutler Lab

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: 0.464) question?

Stock #

R8844 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102818499-102936100 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102865105 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 629 (K629I)

Ref Sequence

ENSEMBL: ENSMUSP00000029448 (fasta)

Gene Model

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

AlphaFold

Q62209

Predicted Effect

probably damaging
Transcript: ENSMUST00000029448
AA Change: K629I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029448
Gene: ENSMUSG00000027855
AA Change: K629I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000196988
AA Change: K629I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143651
Gene: ENSMUSG00000027855
AA Change: K629I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,701,218	H89L	possibly damaging	Het
Ahnak	T	C	19: 9,006,890	V1846A	probably damaging	Het
Arhgap9	A	T	10: 127,325,146	T181S	probably benign	Het
Bmp10	A	G	6: 87,433,699	Y158C	probably damaging	Het
Clec14a	A	G	12: 58,268,813	C8R	possibly damaging	Het
Cntln	A	G	4: 84,973,997	H373R	probably damaging	Het
Cpn2	A	G	16: 30,259,297	S529P	probably damaging	Het
Csmd3	T	C	15: 47,741,194	N1051S	probably damaging	Het
Csmd3	G	A	15: 48,673,419	T129M	probably damaging	Het
F12	T	C	13: 55,420,385	H432R	probably damaging	Het
Foxm1	T	C	6: 128,373,476	F595S	probably damaging	Het
Foxred2	A	T	15: 77,948,477	I410N	probably benign	Het
Fstl5	T	A	3: 76,429,847	F238I	possibly damaging	Het
Galnt3	A	G	2: 66,085,292	V575A	probably benign	Het
Gm13088	A	T	4: 143,654,406	F349Y	probably damaging	Het
Gpr149	T	A	3: 62,595,151	Y428F	probably benign	Het
Gtf2ird1	A	T	5: 134,361,025	Y970*	probably null	Het
Hint2	G	C	4: 43,654,343	Q157E	probably damaging	Het
Ighe	T	C	12: 113,271,386	T385A		Het
Kcnc4	G	A	3: 107,448,080	R351C	probably damaging	Het
Kif7	A	G	7: 79,707,532	L642S	possibly damaging	Het
Lilra5	T	A	7: 4,238,664	V154D	probably damaging	Het
Morc2b	A	G	17: 33,135,768	L1010P	probably damaging	Het
Mphosph10	C	A	7: 64,377,339	K575N	probably damaging	Het
Mup7	C	A	4: 60,067,537	E193*	probably null	Het
Nbea	T	C	3: 56,090,994	T131A	probably damaging	Het
Nostrin	T	C	2: 69,175,716	I248T	probably damaging	Het
Nrxn3	A	T	12: 89,187,150	I296F	possibly damaging	Het
Odam	A	G	5: 87,889,463	E172G	probably damaging	Het
Olfr198	G	C	16: 59,201,566	P287A	probably damaging	Het
Optn	A	G	2: 5,027,112		probably null	Het
Osbpl8	T	A	10: 111,276,475	Y484N	probably damaging	Het
Patj	A	G	4: 98,591,969	N1308D	probably damaging	Het
Pcdhb17	A	T	18: 37,485,748	E197V	probably benign	Het
Pcolce2	G	A	9: 95,681,572	D204N	possibly damaging	Het
Plxna4	T	G	6: 32,197,091	T1190P	probably benign	Het
Pzp	T	C	6: 128,523,987	Y136C	probably damaging	Het
Scn10a	A	T	9: 119,617,725	N1411K	probably damaging	Het
Scube1	A	G	15: 83,676,963	C143R	probably damaging	Het
Stau1	T	C	2: 166,951,346	T290A	probably benign	Het
Taf1d	A	G	9: 15,310,028	E210G	probably damaging	Het
Tecpr1	T	C	5: 144,216,299	E204G	possibly damaging	Het
Tmem229a	T	C	6: 24,955,188	D189G	probably benign	Het
Tmem269	G	A	4: 119,205,679	P254S	probably damaging	Het
Top1	T	A	2: 160,721,549	F767I	probably damaging	Het
Ube2q2	C	A	9: 55,195,473	A331D		Het
Usp1	A	G	4: 98,934,780	Y777C	probably damaging	Het
Usp29	A	G	7: 6,961,892	N245D	probably benign	Het
Vmn1r212	T	A	13: 22,883,356	Q269L	probably benign	Het
Wfdc11	T	A	2: 164,665,453	Y28F	probably benign	Het
Wwp2	A	T	8: 107,483,416	D142V	probably 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
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
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
R9020:Sycp1	UTSW	3	102876337	missense	probably benign	0.01
R9149:Sycp1	UTSW	3	102851628	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTTGTTTGATTTCTGCTGAACTC -3'
(R):5'- AGCTTGACCAAGAGGCATATTTTG -3'

Sequencing Primer
(F):5'- TGCCAATGGCTTACACT -3'
(R):5'- GCATATTTTGCCTGTAAGTTTA -3'

Posted On

2021-07-15