Incidental Mutation 'R6373:Syce1l'
ID 513630
Institutional Source Beutler Lab
Gene Symbol Syce1l
Ensembl Gene ENSMUSG00000033409
Gene Name synaptonemal complex central element protein 1 like
Synonyms 4930481F22Rik, mmrp2
MMRRC Submission 044523-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6373 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 114369845-114382165 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 114376143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 31 (M31K)
Ref Sequence ENSEMBL: ENSMUSP00000092796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034219] [ENSMUST00000035777] [ENSMUST00000095173] [ENSMUST00000212269]
AlphaFold Q5D525
Predicted Effect probably benign
Transcript: ENSMUST00000034219
AA Change: M31K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034219
Gene: ENSMUSG00000033409
AA Change: M31K

DomainStartEndE-ValueType
Pfam:SYCE1 45 135 4.4e-39 PFAM
low complexity region 139 154 N/A INTRINSIC
low complexity region 196 212 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000035777
SMART Domains Protein: ENSMUSP00000045089
Gene: ENSMUSG00000078908

DomainStartEndE-ValueType
Pfam:Mon1 105 533 5.5e-172 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095173
AA Change: M31K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092796
Gene: ENSMUSG00000033409
AA Change: M31K

DomainStartEndE-ValueType
Pfam:SYCE1 45 172 8.3e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212017
Predicted Effect probably benign
Transcript: ENSMUST00000212269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213038
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 95% (37/39)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T C 8: 10,038,240 (GRCm39) L279P probably damaging Het
Aldh16a1 C G 7: 44,795,695 (GRCm39) V373L probably benign Het
Btn2a2 T C 13: 23,665,999 (GRCm39) K278E probably benign Het
Carns1 G T 19: 4,216,515 (GRCm39) Q556K probably benign Het
Chd1 A T 17: 15,958,898 (GRCm39) E650V probably damaging Het
Cobl A G 11: 12,203,118 (GRCm39) S1195P probably damaging Het
Deup1 T C 9: 15,472,638 (GRCm39) H464R probably damaging Het
Eva1a T C 6: 82,068,847 (GRCm39) L58S probably damaging Het
Fign A C 2: 63,809,989 (GRCm39) M427R probably benign Het
Gm6309 A T 5: 146,107,085 (GRCm39) I87N probably damaging Het
H2ac7 A G 13: 23,759,027 (GRCm39) K128R probably benign Het
Helz A G 11: 107,486,010 (GRCm39) T140A probably benign Het
Helz2 C T 2: 180,875,260 (GRCm39) E1745K probably damaging Het
Kif16b A T 2: 142,541,618 (GRCm39) H1227Q possibly damaging Het
Mab21l1 A T 3: 55,690,505 (GRCm39) I31F possibly damaging Het
Mex3c T C 18: 73,723,065 (GRCm39) M386T probably benign Het
Myh11 T A 16: 14,022,994 (GRCm39) I1644F possibly damaging Het
Nav2 C T 7: 49,102,923 (GRCm39) P513S probably damaging Het
Ncoa3 C T 2: 165,901,267 (GRCm39) S953F possibly damaging Het
Nmt2 A G 2: 3,325,988 (GRCm39) T462A probably benign Het
Nrxn2 T C 19: 6,559,860 (GRCm39) I163T probably damaging Het
Nrxn3 G C 12: 89,943,237 (GRCm39) G122R probably damaging Het
Or1e26 A G 11: 73,479,724 (GRCm39) V280A probably benign Het
Or5d20-ps1 T C 2: 87,932,189 (GRCm39) I47M possibly damaging Het
Parg T G 14: 31,931,454 (GRCm39) probably null Het
Pcdhb7 T A 18: 37,475,264 (GRCm39) C133* probably null Het
Ppihl A G 5: 44,070,893 (GRCm39) T127A probably damaging Het
Rigi A G 4: 40,216,487 (GRCm39) Y504H possibly damaging Het
Rpe T C 1: 66,755,139 (GRCm39) F174L probably benign Het
Rxrb A G 17: 34,252,533 (GRCm39) N40S probably benign Het
Ryr3 C A 2: 112,486,889 (GRCm39) G3840W probably damaging Het
Smurf2 A G 11: 106,724,595 (GRCm39) L529P probably damaging Het
Sntg2 C T 12: 30,308,040 (GRCm39) R215H probably benign Het
Spata20 A G 11: 94,374,226 (GRCm39) V348A probably benign Het
Spink5 A G 18: 44,123,739 (GRCm39) E342G probably damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Ttn C T 2: 76,618,960 (GRCm39) V14394I probably damaging Het
Twnk G A 19: 44,997,820 (GRCm39) V450M probably damaging Het
Vangl1 T C 3: 102,065,764 (GRCm39) K407R probably benign Het
Vmn1r19 T C 6: 57,382,317 (GRCm39) I290T unknown Het
Other mutations in Syce1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Syce1l APN 8 114,376,134 (GRCm39) missense probably damaging 0.99
IGL00783:Syce1l APN 8 114,379,494 (GRCm39) missense probably benign 0.23
IGL00784:Syce1l APN 8 114,379,494 (GRCm39) missense probably benign 0.23
IGL02748:Syce1l APN 8 114,382,097 (GRCm39) utr 3 prime probably benign
IGL03003:Syce1l APN 8 114,380,699 (GRCm39) missense probably damaging 0.99
R0101:Syce1l UTSW 8 114,382,061 (GRCm39) missense probably benign 0.41
R0486:Syce1l UTSW 8 114,381,395 (GRCm39) critical splice acceptor site probably null
R0492:Syce1l UTSW 8 114,380,700 (GRCm39) missense possibly damaging 0.86
R1709:Syce1l UTSW 8 114,380,662 (GRCm39) critical splice acceptor site probably null
R1783:Syce1l UTSW 8 114,381,466 (GRCm39) missense possibly damaging 0.66
R2307:Syce1l UTSW 8 114,369,937 (GRCm39) critical splice donor site probably null
R3110:Syce1l UTSW 8 114,381,579 (GRCm39) missense probably benign
R3111:Syce1l UTSW 8 114,381,579 (GRCm39) missense probably benign
R3112:Syce1l UTSW 8 114,381,579 (GRCm39) missense probably benign
R3790:Syce1l UTSW 8 114,369,897 (GRCm39) missense possibly damaging 0.63
R5112:Syce1l UTSW 8 114,378,274 (GRCm39) missense probably damaging 0.99
R5398:Syce1l UTSW 8 114,379,145 (GRCm39) missense probably damaging 1.00
R7407:Syce1l UTSW 8 114,381,770 (GRCm39) nonsense probably null
R8296:Syce1l UTSW 8 114,380,721 (GRCm39) missense possibly damaging 0.78
R9262:Syce1l UTSW 8 114,380,738 (GRCm39) critical splice donor site probably null
R9475:Syce1l UTSW 8 114,381,735 (GRCm39) missense probably benign
R9600:Syce1l UTSW 8 114,381,750 (GRCm39) missense unknown
Z1176:Syce1l UTSW 8 114,382,049 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- TAGCAAAGCTAACTCATCCAGG -3'
(R):5'- TCTGTGCCCCTATAAGTGGAG -3'

Sequencing Primer
(F):5'- AACAGAGAGCTGGTTCCCC -3'
(R):5'- GCCCCTATAAGTGGAGGAAGATTTTC -3'
Posted On 2018-04-27