Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00833:Sycp1'

14314

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sycp1

Ensembl Gene

ENSMUSG00000027855

Gene Name

synaptonemal complex protein 1

Synonyms

SCP1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.495) question?

Stock #

IGL00833

Quality Score

Status

Chromosome

Chromosomal Location

102725815-102843416 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 102783617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143651 (fasta)

Gene Model

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

AlphaFold

Q62209

Predicted Effect

probably null
Transcript: ENSMUST00000029448

SMART Domains

Protein: ENSMUSP00000029448
Gene: ENSMUSG00000027855

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196911

Predicted Effect

probably null
Transcript: ENSMUST00000196988

SMART Domains

Protein: ENSMUSP00000143651
Gene: ENSMUSG00000027855

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	A	G	11: 61,108,006 (GRCm39)	E350G	probably damaging	Het
Apob	T	C	12: 8,060,101 (GRCm39)	V2861A	probably benign	Het
Bpifb9a	C	T	2: 154,106,195 (GRCm39)	Q358*	probably null	Het
Cbfa2t2	T	A	2: 154,370,795 (GRCm39)	Y423N	probably damaging	Het
Cd209e	A	C	8: 3,902,800 (GRCm39)	M102R	probably benign	Het
Ddx42	T	A	11: 106,122,004 (GRCm39)	V173D	possibly damaging	Het
Dnah11	A	G	12: 118,143,315 (GRCm39)	F443L	probably damaging	Het
Exoc4	G	A	6: 33,948,859 (GRCm39)	E901K	probably damaging	Het
Gp5	T	C	16: 30,128,284 (GRCm39)	D130G	possibly damaging	Het
H2-T3	T	G	17: 36,497,933 (GRCm39)	S327R	probably benign	Het
Myo1e	T	C	9: 70,246,060 (GRCm39)	I417T	probably damaging	Het
Nasp	A	G	4: 116,459,933 (GRCm39)	V377A	probably damaging	Het
Nbn	A	G	4: 15,964,320 (GRCm39)	I132V	probably benign	Het
Nckap5	C	A	1: 125,954,889 (GRCm39)	K622N	probably damaging	Het
Nlrp4e	G	A	7: 23,039,896 (GRCm39)	V740I	probably benign	Het
Polr3gl	T	G	3: 96,485,876 (GRCm39)	D130A	probably damaging	Het
Ptprc	T	C	1: 138,006,230 (GRCm39)	K784R	possibly damaging	Het
Tg	C	T	15: 66,560,650 (GRCm39)	T1004I	probably benign	Het
Tmco5b	T	A	2: 113,127,194 (GRCm39)	I255N	probably damaging	Het
Ubr4	G	A	4: 139,120,470 (GRCm39)		probably null	Het
Zeb1	A	G	18: 5,767,774 (GRCm39)	T762A	probably benign	Het
Zfp345	T	C	2: 150,314,649 (GRCm39)	E296G	probably damaging	Het

Other mutations in Sycp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Sycp1	APN	3	102,748,278 (GRCm39)	missense	probably benign
IGL01066:Sycp1	APN	3	102,827,950 (GRCm39)	missense	probably damaging	1.00
IGL01484:Sycp1	APN	3	102,823,183 (GRCm39)	missense	probably benign	0.01
IGL02139:Sycp1	APN	3	102,772,430 (GRCm39)	missense	probably benign	0.00
IGL02270:Sycp1	APN	3	102,803,259 (GRCm39)	missense	probably benign	0.12
IGL02347:Sycp1	APN	3	102,800,863 (GRCm39)	missense	probably benign	0.00
IGL02630:Sycp1	APN	3	102,786,080 (GRCm39)	splice site	probably benign
IGL02668:Sycp1	APN	3	102,727,847 (GRCm39)	splice site	probably benign
IGL02928:Sycp1	APN	3	102,726,134 (GRCm39)	utr 3 prime	probably benign
PIT4458001:Sycp1	UTSW	3	102,842,149 (GRCm39)	missense	probably benign	0.01
R0027:Sycp1	UTSW	3	102,803,226 (GRCm39)	missense	probably benign
R0282:Sycp1	UTSW	3	102,823,111 (GRCm39)	splice site	probably benign
R0462:Sycp1	UTSW	3	102,726,422 (GRCm39)	missense	possibly damaging	0.75
R0609:Sycp1	UTSW	3	102,806,165 (GRCm39)	splice site	probably null
R0837:Sycp1	UTSW	3	102,822,561 (GRCm39)	missense	probably benign	0.17
R1301:Sycp1	UTSW	3	102,827,938 (GRCm39)	missense	probably benign	0.02
R2408:Sycp1	UTSW	3	102,832,575 (GRCm39)	missense	probably damaging	1.00
R2449:Sycp1	UTSW	3	102,832,522 (GRCm39)	missense	probably benign	0.15
R2516:Sycp1	UTSW	3	102,752,382 (GRCm39)	missense	probably benign	0.09
R2880:Sycp1	UTSW	3	102,726,214 (GRCm39)	missense	probably damaging	0.99
R3410:Sycp1	UTSW	3	102,748,357 (GRCm39)	missense	possibly damaging	0.94
R3427:Sycp1	UTSW	3	102,783,666 (GRCm39)	missense	probably benign	0.00
R4538:Sycp1	UTSW	3	102,748,278 (GRCm39)	missense	probably benign
R4679:Sycp1	UTSW	3	102,829,778 (GRCm39)	critical splice acceptor site	probably null
R4707:Sycp1	UTSW	3	102,760,805 (GRCm39)	missense	possibly damaging	0.92
R4785:Sycp1	UTSW	3	102,760,805 (GRCm39)	missense	possibly damaging	0.92
R5017:Sycp1	UTSW	3	102,803,303 (GRCm39)	splice site	probably null
R5036:Sycp1	UTSW	3	102,727,916 (GRCm39)	missense	probably damaging	1.00
R5044:Sycp1	UTSW	3	102,752,370 (GRCm39)	missense	probably benign	0.03
R5070:Sycp1	UTSW	3	102,827,881 (GRCm39)	missense	probably damaging	0.97
R5079:Sycp1	UTSW	3	102,786,116 (GRCm39)	missense	possibly damaging	0.67
R5289:Sycp1	UTSW	3	102,841,569 (GRCm39)	missense	possibly damaging	0.85
R5393:Sycp1	UTSW	3	102,748,363 (GRCm39)	splice site	probably null
R5477:Sycp1	UTSW	3	102,726,206 (GRCm39)	missense	probably damaging	1.00
R5576:Sycp1	UTSW	3	102,726,218 (GRCm39)	missense	probably damaging	0.98
R5814:Sycp1	UTSW	3	102,803,213 (GRCm39)	missense	probably benign	0.03
R6291:Sycp1	UTSW	3	102,816,277 (GRCm39)	missense	probably damaging	1.00
R6460:Sycp1	UTSW	3	102,832,569 (GRCm39)	missense	probably damaging	1.00
R6527:Sycp1	UTSW	3	102,806,203 (GRCm39)	missense	probably benign	0.09
R6870:Sycp1	UTSW	3	102,842,919 (GRCm39)	missense	probably damaging	1.00
R6873:Sycp1	UTSW	3	102,748,296 (GRCm39)	missense	probably benign
R7037:Sycp1	UTSW	3	102,806,250 (GRCm39)	missense	possibly damaging	0.62
R7210:Sycp1	UTSW	3	102,760,808 (GRCm39)	missense	probably damaging	1.00
R7405:Sycp1	UTSW	3	102,832,543 (GRCm39)	missense	possibly damaging	0.72
R7604:Sycp1	UTSW	3	102,820,749 (GRCm39)	missense	probably damaging	0.98
R7733:Sycp1	UTSW	3	102,803,278 (GRCm39)	missense	probably benign	0.00
R7858:Sycp1	UTSW	3	102,806,273 (GRCm39)	missense	probably benign	0.09
R7909:Sycp1	UTSW	3	102,727,942 (GRCm39)	nonsense	probably null
R8109:Sycp1	UTSW	3	102,758,918 (GRCm39)	missense	probably benign	0.21
R8141:Sycp1	UTSW	3	102,842,885 (GRCm39)	missense	possibly damaging	0.73
R8289:Sycp1	UTSW	3	102,748,353 (GRCm39)	missense	probably benign	0.01
R8359:Sycp1	UTSW	3	102,727,909 (GRCm39)	missense	probably damaging	0.98
R8844:Sycp1	UTSW	3	102,772,421 (GRCm39)	missense	probably damaging	1.00
R9020:Sycp1	UTSW	3	102,783,653 (GRCm39)	missense	probably benign	0.01
R9149:Sycp1	UTSW	3	102,758,944 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06