Mutagenetix > Incidental Mutation

Incidental Mutation 'R7909:Sycp1'

610336

Institutional Source

Beutler Lab

Gene Symbol

Sycp1

Ensembl Gene

ENSMUSG00000027855

Gene Name

synaptonemal complex protein 1

Synonyms

SCP1

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.487) question?

Stock #

R7909 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102818499-102936100 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 102820626 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 890 (Y890*)

Ref Sequence

ENSEMBL: ENSMUSP00000029448 (fasta)

Gene Model

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

AlphaFold

Q62209

Predicted Effect

probably null
Transcript: ENSMUST00000029448
AA Change: Y890*

SMART Domains

Protein: ENSMUSP00000029448
Gene: ENSMUSG00000027855
AA Change: Y890*

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

Predicted Effect

probably null
Transcript: ENSMUST00000196988
AA Change: Y890*

SMART Domains

Protein: ENSMUSP00000143651
Gene: ENSMUSG00000027855
AA Change: Y890*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930412O13Rik	C	A	2: 9,883,857	P91Q	unknown	Het
Abhd4	C	T	14: 54,261,630	Q23*	probably null	Het
Acaca	T	A	11: 84,245,235	I472N	possibly damaging	Het
Angptl7	T	C	4: 148,496,210	N320S	probably benign	Het
Arrdc4	C	T	7: 68,745,176	E112K	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	GTGGTCACTGGTTCTGTGGTCACTGGTT	GTGGTCACTGGTTCTTTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,163		probably benign	Het
BC028528	TGGTCACTGGTTCTGTGGTCACTGGTT	TGGTCACTGGTTCTGGGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,164		probably benign	Het
BC028528	CACTGGTTCTGTGGT	CACTGGTTCTGTGGTGACTGGTTCTGTGGT	3: 95,888,168		probably benign	Het
BC028528	TGTGGTCACTGGTT	TGTGGTCACTGGTTCCGTGGTCACTGGTT	3: 95,888,177		probably benign	Het
Ccdc13	T	A	9: 121,833,860	M30L	probably benign	Het
Ceacam9	A	G	7: 16,723,868	Y102C	probably damaging	Het
Dennd4a	G	T	9: 64,872,993		probably null	Het
Dusp1	A	T	17: 26,507,612	S159T	probably benign	Het
Dyrk3	A	T	1: 131,129,587	V283E	probably damaging	Het
Fam208b	T	C	13: 3,573,765	I2062V	possibly damaging	Het
Fndc7	A	T	3: 108,862,916	S651T	probably benign	Het
Gcnt2	T	A	13: 40,860,450	H32Q	probably benign	Het
Gkn2	T	A	6: 87,375,894	H68Q	possibly damaging	Het
Gm11214	T	C	4: 63,662,687	K75R	probably damaging	Het
Gm15448	T	C	7: 3,821,709	K559R	unknown	Het
Gria4	G	T	9: 4,464,450	T504K	probably damaging	Het
Gstm4	T	A	3: 108,043,416	T90S	probably benign	Het
Hbs1l	G	A	10: 21,358,404		probably null	Het
Hdhd5	C	A	6: 120,531,191	R34S	probably benign	Het
Ighv10-1	A	T	12: 114,479,044	L107*	probably null	Het
Ints6	A	T	14: 62,759,330	H70Q	probably damaging	Het
K230010J24Rik	G	T	15: 76,046,841	R537L	possibly damaging	Het
Kcnc3	T	A	7: 44,595,687	I467N	probably damaging	Het
Klhl9	A	T	4: 88,721,001	D334E	probably benign	Het
Lama5	T	A	2: 180,192,276	N1427I	possibly damaging	Het
Lrch3	T	A	16: 33,009,293	F764L	probably benign	Het
Lyar	T	A	5: 38,224,728	V18E	probably damaging	Het
Maea	T	G	5: 33,370,474	F270C	possibly damaging	Het
Maea	C	T	5: 33,370,476	R271*	probably null	Het
Mttp	T	A	3: 138,118,417	K133*	probably null	Het
Nme6	T	A	9: 109,841,968	I92N	probably damaging	Het
Nqo2	T	A	13: 33,972,431	Y43N	probably damaging	Het
Nup153	C	T	13: 46,693,580	C791Y	probably damaging	Het
Ogdh	A	G	11: 6,313,965	I134V	possibly damaging	Het
Olfr703	G	A	7: 106,844,992	C127Y	probably benign	Het
Olfr777	G	T	10: 129,269,267	Q19K	probably benign	Het
Olfr875	T	C	9: 37,772,737	L26P	probably damaging	Het
Pde6b	A	T	5: 108,403,422	M191L	probably benign	Het
Plxdc1	A	T	11: 97,932,304	D370E	probably benign	Het
Pnldc1	C	A	17: 12,903,211	A187S	probably benign	Het
Psrc1	T	C	3: 108,385,251	V120A	probably damaging	Het
Rbpms	A	G	8: 33,864,359	S53P	probably damaging	Het
Rtl1	G	A	12: 109,590,177	L1743F	unknown	Het
Rtl1	T	A	12: 109,592,480	N975I	possibly damaging	Het
Rtn3	A	G	19: 7,456,462	S722P	possibly damaging	Het
Safb	A	G	17: 56,595,665	D187G	unknown	Het
Sept5	A	G	16: 18,624,622	V153A	probably damaging	Het
Sesn1	T	C	10: 41,811,116	V32A	probably benign	Het
Shank2	A	T	7: 144,411,394	H913L	probably damaging	Het
Slc19a1	T	A	10: 77,049,540	F425I	probably damaging	Het
Slc4a11	A	G	2: 130,692,300	M26T	probably benign	Het
Sybu	G	T	15: 44,673,037	S631*	probably null	Het
Tcaf3	A	G	6: 42,591,964	V583A	possibly damaging	Het
Tctn1	A	G	5: 122,261,410	V117A	probably damaging	Het
Tmem74	A	T	15: 43,867,399	S83T	probably benign	Het
Tmem91	T	C	7: 25,670,565	D94G	probably damaging	Het
Tnks	A	T	8: 34,940,704	V290D	probably damaging	Het
Tns4	A	G	11: 99,086,023	L24P	probably damaging	Het
Tnxb	A	G	17: 34,692,454	H1577R	probably benign	Het
Tpm2	A	T	4: 43,515,939	N279K	probably benign	Het
Trim34b	A	G	7: 104,330,524	T148A	probably benign	Het
Tro	TAAGCTGGTGCTAGTGCTGGGTGCACCACCAAAGCTAATGCTCGCTGTGCTAAAGCTGGTGCTAGTGCTGGGTGCACCACCAAAGCTAATGCT	TAAGCTGGTGCTAGTGCTGGGTGCACCACCAAAGCTAATGCT	X: 150,648,624		probably benign	Het
Ttf1	T	A	2: 29,065,459	S278R	probably benign	Het
Utp20	A	T	10: 88,775,330	V1375E	probably benign	Het
Vmn2r52	C	A	7: 10,162,950	V532L	probably benign	Het
Vps13a	G	A	19: 16,720,430	R774*	probably null	Het
Vsnl1	A	T	12: 11,326,454	D143E	probably benign	Het
Yme1l1	T	A	2: 23,194,757	N622K	probably benign	Het
Zfp106	A	G	2: 120,514,219	V1748A	probably damaging	Het
Zfp513	C	T	5: 31,200,562	V158M	possibly damaging	Het
Zfp607a	A	T	7: 27,879,094	I530F	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
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
R8844:Sycp1	UTSW	3	102865105	missense	probably damaging	1.00
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'- CTAGAATGTTACCGTTTGTCAGTACTG -3'
(R):5'- CCAGTTTCAAATTGCCTTCAAGTG -3'

Sequencing Primer
(F):5'- GACCCTTAATAACATATTTGGCTGTG -3'
(R):5'- GCCTTCAAGTGCATGAACTAG -3'

Posted On

2019-12-20