Mutagenetix > Incidental Mutation

Incidental Mutation 'R8289:Sycp1'

638558

Institutional Source

Beutler Lab

Gene Symbol

Sycp1

Ensembl Gene

ENSMUSG00000027855

Gene Name

synaptonemal complex protein 1

Synonyms

SCP1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.477) question?

Stock #

R8289 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102818499-102936100 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102841037 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 813 (I813T)

Ref Sequence

ENSEMBL: ENSMUSP00000029448 (fasta)

Gene Model

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

AlphaFold

Q62209

Predicted Effect

probably benign
Transcript: ENSMUST00000029448
AA Change: I813T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000029448
Gene: ENSMUSG00000027855
AA Change: I813T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196988
AA Change: I813T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000143651
Gene: ENSMUSG00000027855
AA Change: I813T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	C	11: 110,036,689		probably benign	Het
Adamts3	C	A	5: 89,775,423	D175Y	possibly damaging	Het
Adra1b	G	A	11: 43,835,488	P201S	probably damaging	Het
Ahnak2	A	G	12: 112,775,808	V610A	possibly damaging	Het
Ap5s1	A	C	2: 131,212,459	H62P	probably benign	Het
Apeh	A	G	9: 108,086,245	S593P	probably damaging	Het
Arhgap24	T	C	5: 102,880,826	V289A	possibly damaging	Het
Atoh1	A	G	6: 64,729,909	E196G	probably damaging	Het
Atp1b3	G	A	9: 96,333,549	S271L	probably benign	Het
Atp6v0a1	A	G	11: 101,034,105	R339G	probably damaging	Het
Calb2	T	C	8: 110,168,058	H27R	possibly damaging	Het
Camkk2	A	C	5: 122,756,626	L201R	probably damaging	Het
Car15	A	G	16: 17,836,716		probably null	Het
Cecr2	A	G	6: 120,758,116	N771S	probably benign	Het
Cecr6	A	T	6: 120,492,761	S332T	possibly damaging	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Csmd1	T	A	8: 16,058,702	I1896F	probably damaging	Het
Cubn	C	T	2: 13,486,802	V145I	probably benign	Het
Cuedc1	G	A	11: 88,182,555	S182N	probably benign	Het
Cux1	T	A	5: 136,308,504	E718V	probably damaging	Het
Cyp7a1	G	A	4: 6,268,295	P477S	probably damaging	Het
Dcaf17	T	A	2: 71,055,374	W16R		Het
Dhx8	T	A	11: 101,740,745	M388K	probably benign	Het
Dnah14	T	A	1: 181,716,215	Y2453*	probably null	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
F830016B08Rik	G	A	18: 60,300,288	E148K	probably benign	Het
Gm15800	A	G	5: 121,266,361	T434A	possibly damaging	Het
Gm4955	T	C	1: 173,480,466	I655V		Het
Ide	A	G	19: 37,313,553	L368P		Het
Ide	G	C	19: 37,313,554	L368V	probably null	Het
Insrr	A	G	3: 87,814,194	M1136V	probably damaging	Het
Kcne2	A	G	16: 92,296,819	E78G	probably damaging	Het
Lrrc23	A	T	6: 124,778,304	L90H	probably damaging	Het
Magel2	A	C	7: 62,379,127	Q593P	unknown	Het
Mrgpra3	G	A	7: 47,589,720	H153Y	possibly damaging	Het
Msln	A	G	17: 25,748,906	V595A	possibly damaging	Het
Mvb12a	T	C	8: 71,543,059		probably null	Het
Myo7a	T	G	7: 98,077,169	M966L	probably benign	Het
Ncoa5	C	T	2: 165,013,062	D47N	possibly damaging	Het
Neurl4	T	A	11: 69,909,380		probably null	Het
Olfr389	T	A	11: 73,777,013	M105L	probably benign	Het
Olfr464	T	C	11: 87,914,763	T48A	probably benign	Het
Olfr501-ps1	T	A	7: 108,508,918	H287Q	unknown	Het
Olfr884	T	A	9: 38,047,704	C161S	probably benign	Het
Osbpl7	T	A	11: 97,056,579	S480T	probably benign	Het
Podnl1	T	C	8: 84,131,923	L484P		Het
Polr3gl	G	T	3: 96,581,912		probably benign	Het
Prkaa1	G	T	15: 5,177,082	V438L	possibly damaging	Het
Prune2	A	T	19: 17,123,009	H1959L	probably benign	Het
Rad50	A	T	11: 53,698,858	L172*	probably null	Het
Samsn1	C	A	16: 75,888,796	G25W	probably damaging	Het
Sbno1	T	G	5: 124,404,005	L362F	probably damaging	Het
Slc26a6	G	A	9: 108,856,031	R43H	probably benign	Het
Slc35f5	T	G	1: 125,562,515	Y49*	probably null	Het
Slc41a2	T	C	10: 83,301,180	I288V	probably benign	Het
Slc9c1	A	G	16: 45,582,981	M804V	probably benign	Het
Smc6	T	A	12: 11,274,051	S66T	probably benign	Het
Ssh1	T	C	5: 113,942,384	D995G	probably benign	Het
Stk11	G	T	10: 80,125,906		probably benign	Het
Treml4	A	C	17: 48,274,428	I244L	probably benign	Het
Unc13b	T	A	4: 43,172,524	C1117*	probably null	Het
Wdr35	A	G	12: 9,008,020	I526V	probably benign	Het
Zap70	T	C	1: 36,781,137	W500R	probably damaging	Het
Zfr	G	T	15: 12,135,271	V49F	noncoding transcript	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
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'- TTCATGCTGAAAGGTCTTTGC -3'
(R):5'- CTCACAATTGGAGCAGATGCC -3'

Sequencing Primer
(F):5'- TGCCCGCAGATTATCTCT -3'
(R):5'- GAGCAGATGCCCATTTTTCAG -3'

Posted On

2020-07-28