Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00513:Sycp1'

6805

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 #

IGL00513

Quality Score

Status

Chromosome

Chromosomal Location

102725815-102843416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102748278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 838 (I838K)

Ref Sequence

ENSEMBL: ENSMUSP00000143651 (fasta)

Gene Model

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

AlphaFold

Q62209

Predicted Effect

probably benign
Transcript: ENSMUST00000029448
AA Change: I838K

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

SMART Domains

Protein: ENSMUSP00000029448
Gene: ENSMUSG00000027855
AA Change: I838K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196988
AA Change: I838K

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

SMART Domains

Protein: ENSMUSP00000143651
Gene: ENSMUSG00000027855
AA Change: I838K

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

Meta Mutation Damage Score

0.0898

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,555,119 (GRCm39)	I157F	possibly damaging	Het
Adamts12	T	A	15: 11,257,047 (GRCm39)	S467T	probably benign	Het
Cacna1a	T	C	8: 85,279,685 (GRCm39)	I680T	probably damaging	Het
Dennd2d	A	T	3: 106,407,861 (GRCm39)	Q457L	possibly damaging	Het
Fndc1	T	C	17: 7,984,086 (GRCm39)	Y1280C	unknown	Het
Gtpbp10	A	T	5: 5,596,372 (GRCm39)	M112K	possibly damaging	Het
Kcnh7	C	T	2: 62,595,035 (GRCm39)	M678I	probably benign	Het
Kif20b	C	A	19: 34,925,060 (GRCm39)	T739K	possibly damaging	Het
Plk2	T	A	13: 110,535,298 (GRCm39)	M444K	probably benign	Het
Scn1a	T	G	2: 66,165,875 (GRCm39)		probably null	Het
Ugt2b36	T	C	5: 87,229,440 (GRCm39)	D341G	possibly damaging	Het
Vps13b	A	T	15: 35,794,030 (GRCm39)	L2235F	probably damaging	Het
Wdr7	T	A	18: 63,853,846 (GRCm39)	L60I	possibly damaging	Het

Other mutations in Sycp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Sycp1	APN	3	102,783,617 (GRCm39)	critical splice donor site	probably null
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

2012-04-20