Incidental Mutation 'IGL02928:Sycp1'
ID363996
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sycp1
Ensembl Gene ENSMUSG00000027855
Gene Namesynaptonemal complex protein 1
SynonymsSCP1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.514) question?
Stock #IGL02928
Quality Score
Status
Chromosome3
Chromosomal Location102818499-102936100 bp(-) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) T to A at 102818818 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029448] [ENSMUST00000196988]
Predicted Effect probably benign
Transcript: ENSMUST00000029448
SMART Domains Protein: ENSMUSP00000029448
Gene: ENSMUSG00000027855

DomainStartEndE-ValueType
Pfam:SCP-1 28 809 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196988
SMART Domains Protein: ENSMUSP00000143651
Gene: ENSMUSG00000027855

DomainStartEndE-ValueType
Pfam:SCP-1 28 809 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198651
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 145,043,517 Y92C probably damaging Het
9430007A20Rik A T 4: 144,529,232 L407F possibly damaging Het
Abcc3 G T 11: 94,361,306 T817K possibly damaging Het
Arhgap10 G A 8: 77,250,910 probably benign Het
Arhgef16 G T 4: 154,282,893 Q352K probably benign Het
Cep104 A G 4: 153,981,259 I68V probably benign Het
Col5a2 G A 1: 45,385,020 A1082V probably benign Het
Col6a1 A T 10: 76,709,666 Y991N possibly damaging Het
Ehmt2 T C 17: 34,910,822 I1021T probably damaging Het
Eif2ak4 G A 2: 118,472,687 probably null Het
Ern1 A G 11: 106,405,879 probably benign Het
Fgf18 A T 11: 33,124,674 I99N possibly damaging Het
Glp1r A G 17: 30,918,937 D114G probably benign Het
Gm10553 A G 1: 85,100,212 K17E possibly damaging Het
Gm5422 T A 10: 31,250,254 noncoding transcript Het
Gm7714 A T 5: 88,277,117 I14L probably benign Het
Gnb1 A C 4: 155,553,406 T196P probably benign Het
Ighv6-5 T A 12: 114,416,792 D35V probably benign Het
Il18r1 G A 1: 40,478,551 probably null Het
Ipo11 A T 13: 106,889,355 probably benign Het
Itih1 T A 14: 30,937,758 Q307L probably damaging Het
Mmp1b T A 9: 7,368,242 *464L probably null Het
Mrps7 C T 11: 115,605,084 Q113* probably null Het
Npat A C 9: 53,566,838 probably benign Het
Nrp2 A G 1: 62,815,446 I852V probably damaging Het
Olfr1338 A G 4: 118,754,500 F15L probably damaging Het
Olfr291 A G 7: 84,857,065 E232G probably benign Het
P2rx6 T A 16: 17,565,037 probably benign Het
Parp6 T A 9: 59,641,063 N466K possibly damaging Het
Prss12 A T 3: 123,487,156 N497Y possibly damaging Het
Psg22 T C 7: 18,719,533 V51A probably damaging Het
Ptgir T C 7: 16,908,998 S175P possibly damaging Het
Rd3l T C 12: 111,979,578 S156G probably benign Het
Reck C T 4: 43,912,078 H196Y possibly damaging Het
Rft1 T A 14: 30,663,115 V165D possibly damaging Het
Rin2 A G 2: 145,860,006 probably benign Het
Rufy4 A G 1: 74,129,082 probably benign Het
Scfd2 G A 5: 74,531,171 T150M probably damaging Het
Sgca A G 11: 94,972,303 W75R probably damaging Het
Sirt7 A T 11: 120,620,216 D318E probably benign Het
Snta1 C T 2: 154,381,039 A255T probably benign Het
Stxbp2 A G 8: 3,641,736 D485G probably damaging Het
Tenm2 A G 11: 36,027,170 V1922A possibly damaging Het
Ttc7b A T 12: 100,403,415 V365D probably damaging Het
Upk3b A G 5: 136,039,141 E62G probably benign Het
Wdr36 T C 18: 32,847,319 probably null Het
Yars2 T C 16: 16,303,546 F188S probably damaging Het
Other mutations in Sycp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Posted On2015-12-18