Incidental Mutation 'R5070:Sycp1'
ID 388625
Institutional Source Beutler Lab
Gene Symbol Sycp1
Ensembl Gene ENSMUSG00000027855
Gene Name synaptonemal complex protein 1
Synonyms SCP1
MMRRC Submission 042660-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.539) question?
Stock # R5070 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 102725815-102843416 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102827881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 289 (S289T)
Ref Sequence ENSEMBL: ENSMUSP00000143651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029448] [ENSMUST00000196988] [ENSMUST00000199930]
AlphaFold Q62209
Predicted Effect probably damaging
Transcript: ENSMUST00000029448
AA Change: S289T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029448
Gene: ENSMUSG00000027855
AA Change: S289T

DomainStartEndE-ValueType
Pfam:SCP-1 28 809 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196988
AA Change: S289T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143651
Gene: ENSMUSG00000027855
AA Change: S289T

DomainStartEndE-ValueType
Pfam:SCP-1 28 809 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199930
SMART Domains Protein: ENSMUSP00000143493
Gene: ENSMUSG00000027855

DomainStartEndE-ValueType
Pfam:SCP-1 28 95 2e-33 PFAM
Pfam:SCP-1 93 182 9.8e-53 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.0%
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: 114 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,383,749 (GRCm39) S739P possibly damaging Het
Acacb T C 5: 114,384,089 (GRCm39) I2206T possibly damaging Het
Actn2 A G 13: 12,303,408 (GRCm39) I464T possibly damaging Het
AI987944 C T 7: 41,024,748 (GRCm39) G77D probably benign Het
Ankar T C 1: 72,719,369 (GRCm39) probably null Het
Armc9 A T 1: 86,184,959 (GRCm39) H670L probably benign Het
Arvcf A G 16: 18,217,736 (GRCm39) Y412C probably damaging Het
Baiap3 A T 17: 25,468,082 (GRCm39) C283S probably damaging Het
Bend3 A T 10: 43,369,681 (GRCm39) E11D probably damaging Het
Birc6 C T 17: 74,872,967 (GRCm39) R409C probably damaging Het
Cds2 T A 2: 132,144,008 (GRCm39) Y4* probably null Het
Celsr1 G T 15: 85,823,335 (GRCm39) P1691Q possibly damaging Het
Chmp1a A T 8: 123,933,054 (GRCm39) V133E probably benign Het
Cnbd2 T C 2: 156,177,318 (GRCm39) V92A probably damaging Het
Comp G A 8: 70,829,145 (GRCm39) G272S probably benign Het
Csnk1a1 T A 18: 61,688,852 (GRCm39) F11I probably benign Het
Ctse A G 1: 131,595,917 (GRCm39) D203G probably damaging Het
Cyp1b1 T A 17: 80,018,040 (GRCm39) M372L probably benign Het
Cyp2c66 T A 19: 39,151,914 (GRCm39) S210T probably benign Het
Dnah1 G A 14: 31,004,375 (GRCm39) P2385S probably benign Het
Dsp A C 13: 38,381,099 (GRCm39) T2615P possibly damaging Het
Eif4g3 A G 4: 137,873,610 (GRCm39) T682A probably benign Het
Enpp2 T C 15: 54,727,450 (GRCm39) Y513C probably damaging Het
Ercc6 T C 14: 32,292,020 (GRCm39) V1128A probably benign Het
Fam136b-ps C T 15: 31,276,862 (GRCm39) probably benign Het
Fbxl7 T A 15: 26,789,640 (GRCm39) H29L probably benign Het
Fbxw22 A G 9: 109,214,183 (GRCm39) V211A probably benign Het
Frk A T 10: 34,360,280 (GRCm39) K94* probably null Het
G0s2 T A 1: 192,954,870 (GRCm39) E71D probably damaging Het
Gfpt1 A G 6: 87,030,727 (GRCm39) probably null Het
Gga1 A G 15: 78,776,217 (GRCm39) D420G possibly damaging Het
Gldc T C 19: 30,095,998 (GRCm39) Q671R possibly damaging Het
Gpc6 A G 14: 117,424,181 (GRCm39) T90A probably benign Het
Gucy2g C A 19: 55,218,219 (GRCm39) V410F probably damaging Het
Ifnlr1 T C 4: 135,431,509 (GRCm39) S233P probably benign Het
Ighv1-9 A T 12: 114,547,377 (GRCm39) W55R probably damaging Het
Igsf10 T A 3: 59,235,714 (GRCm39) H1489L probably benign Het
Il17re T C 6: 113,435,971 (GRCm39) L39P probably damaging Het
Irag1 A G 7: 110,524,519 (GRCm39) S208P probably benign Het
Kcna2 T A 3: 107,011,953 (GRCm39) V178D probably damaging Het
Kcnk3 A G 5: 30,779,730 (GRCm39) H260R possibly damaging Het
Kctd19 T C 8: 106,118,631 (GRCm39) Y287C probably damaging Het
Klhl28 A T 12: 65,004,486 (GRCm39) M9K probably benign Het
Lama2 A G 10: 27,226,247 (GRCm39) probably null Het
Lrrc27 A T 7: 138,794,715 (GRCm39) D26V probably damaging Het
Mcm4 A G 16: 15,443,434 (GRCm39) S830P probably damaging Het
Mei1 T A 15: 81,961,804 (GRCm39) C188S possibly damaging Het
Mettl13 C T 1: 162,373,468 (GRCm39) R261H possibly damaging Het
Mex3a A T 3: 88,443,694 (GRCm39) I257F probably damaging Het
Mib1 A G 18: 10,793,002 (GRCm39) E646G probably damaging Het
Mier2 T C 10: 79,385,411 (GRCm39) D139G probably benign Het
Mmp14 T A 14: 54,676,570 (GRCm39) Y372N probably damaging Het
Myh14 A G 7: 44,265,672 (GRCm39) V1569A possibly damaging Het
Myo18b T C 5: 112,909,212 (GRCm39) E1977G probably damaging Het
Myo3b T C 2: 70,083,456 (GRCm39) L675P probably damaging Het
N4bp1 A G 8: 87,587,165 (GRCm39) V591A probably damaging Het
Nedd9 C A 13: 41,470,074 (GRCm39) V360L probably benign Het
Oit3 C T 10: 59,259,849 (GRCm39) R518H probably damaging Het
Or10ag57 T G 2: 87,218,507 (GRCm39) C153G probably damaging Het
Or11g2 A G 14: 50,855,931 (GRCm39) N84S probably benign Het
Or11g2 T A 14: 50,856,197 (GRCm39) C173S probably damaging Het
Or11h4 C A 14: 50,974,531 (GRCm39) L29F probably benign Het
Or1j14 T A 2: 36,417,778 (GRCm39) M118K probably damaging Het
Or2aj6 A G 16: 19,443,742 (GRCm39) I36T possibly damaging Het
Or2j6 A G 7: 139,980,482 (GRCm39) V159A probably benign Het
Or9s23 T A 1: 92,501,135 (GRCm39) S81T probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pask A T 1: 93,258,596 (GRCm39) C251S probably damaging Het
Pdzk1 A T 3: 96,757,637 (GRCm39) D31V probably benign Het
Pmfbp1 A T 8: 110,256,787 (GRCm39) Q497L probably damaging Het
Pofut1 T C 2: 153,103,486 (GRCm39) probably benign Het
Polr2h A G 16: 20,540,716 (GRCm39) N95S probably damaging Het
Pou2f3 A G 9: 43,056,578 (GRCm39) V93A possibly damaging Het
Ppfia1 G A 7: 144,068,210 (GRCm39) Q446* probably null Het
Prkd1 A T 12: 50,441,405 (GRCm39) L327* probably null Het
Prrt4 T C 6: 29,177,511 (GRCm39) E86G probably benign Het
Psen2 T C 1: 180,056,422 (GRCm39) I393V probably benign Het
Psma2 G A 13: 14,790,613 (GRCm39) V20I probably benign Het
Qser1 C T 2: 104,617,627 (GRCm39) V1062I possibly damaging Het
Rab11b G T 17: 33,967,855 (GRCm39) A114D probably damaging Het
Rag1 A T 2: 101,472,656 (GRCm39) W829R probably damaging Het
Rgl3 A G 9: 21,899,340 (GRCm39) probably null Het
Rgs8 C T 1: 153,541,650 (GRCm39) T3I probably damaging Het
Rnf17 T C 14: 56,743,385 (GRCm39) V1317A probably damaging Het
Rps6kb2 A T 19: 4,213,227 (GRCm39) D6E probably damaging Het
Shisal1 G T 15: 84,304,364 (GRCm39) A14E possibly damaging Het
Skint5 T A 4: 113,652,735 (GRCm39) I630F unknown Het
Skint7 T C 4: 111,841,331 (GRCm39) L257P probably damaging Het
Slc11a1 G A 1: 74,424,343 (GRCm39) A434T probably damaging Het
Slc5a8 A T 10: 88,722,460 (GRCm39) I98F possibly damaging Het
Sorl1 T C 9: 41,943,114 (GRCm39) K921E possibly damaging Het
Stub1 A G 17: 26,051,112 (GRCm39) L90P probably damaging Het
Taar7b T G 10: 23,876,359 (GRCm39) S175A probably benign Het
Tead3 T C 17: 28,560,451 (GRCm39) K51R probably benign Het
Tmed11 T A 5: 108,943,089 (GRCm39) I30L probably benign Het
Tmem131 A G 1: 36,893,986 (GRCm39) I139T probably damaging Het
Tmem191 A G 16: 17,095,559 (GRCm39) Q206R probably null Het
Tph2 T A 10: 114,987,079 (GRCm39) Y237F probably benign Het
Trim35 C T 14: 66,546,421 (GRCm39) probably benign Het
Tsc22d1 T C 14: 76,655,750 (GRCm39) I661T probably benign Het
Ttc27 T A 17: 75,106,337 (GRCm39) H541Q probably damaging Het
Uqcrq A G 11: 53,320,954 (GRCm39) probably null Het
Vmn1r215 T A 13: 23,260,666 (GRCm39) S235R probably benign Het
Vmn1r70 T C 7: 10,368,325 (GRCm39) V271A probably benign Het
Vps13a G A 19: 16,631,848 (GRCm39) R2596C probably benign Het
Vwa7 G A 17: 35,243,166 (GRCm39) V615I probably benign Het
Wdr90 T C 17: 26,065,307 (GRCm39) T1650A probably damaging Het
Zbtb32 T A 7: 30,290,891 (GRCm39) M135L probably benign Het
Zc2hc1c A G 12: 85,337,288 (GRCm39) D315G probably benign Het
Zfc3h1 T A 10: 115,254,688 (GRCm39) C1427* probably null Het
Zfp30 A G 7: 29,485,691 (GRCm39) probably benign Het
Zfp428 T A 7: 24,214,550 (GRCm39) D55E probably damaging Het
Zfyve26 A T 12: 79,302,135 (GRCm39) N1820K probably damaging Het
Zw10 C A 9: 48,988,759 (GRCm39) S675* probably null Het
Other mutations in Sycp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00513:Sycp1 APN 3 102,748,278 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CCAAGTGATTCAATTATGCCCTC -3'
(R):5'- CAACGTTAACAATTTCTGGTGC -3'

Sequencing Primer
(F):5'- TCCTTCAACTGATCCAAACAAAGTG -3'
(R):5'- GTATCCAGGTTTACTCATTCATT -3'
Posted On 2016-06-06