Incidental Mutation 'IGL00784:Syce1l'
ID277954
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syce1l
Ensembl Gene ENSMUSG00000033409
Gene Namesynaptonemal complex central element protein 1 like
Synonyms4930481F22Rik, mmrp2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00784
Quality Score
Status
Chromosome8
Chromosomal Location113643213-113655533 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 113652862 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 120 (D120G)
Ref Sequence ENSEMBL: ENSMUSP00000092796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034219] [ENSMUST00000095173] [ENSMUST00000212269]
Predicted Effect probably benign
Transcript: ENSMUST00000034219
AA Change: D120G

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034219
Gene: ENSMUSG00000033409
AA Change: D120G

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: ENSMUST00000095173
AA Change: D120G

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000092796
Gene: ENSMUSG00000033409
AA Change: D120G

DomainStartEndE-ValueType
Pfam:SYCE1 45 172 8.3e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212017
Predicted Effect probably benign
Transcript: ENSMUST00000212269
AA Change: D99G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213038
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn A G 17: 13,849,263 probably benign Het
Arhgef33 A T 17: 80,368,230 I403L probably benign Het
Cd4 A G 6: 124,872,989 V121A possibly damaging Het
Cep89 T A 7: 35,405,707 V132E possibly damaging Het
Dock10 A G 1: 80,572,449 probably benign Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Hnrnpl T C 7: 28,820,642 F482L probably benign Het
Ift122 T A 6: 115,905,902 H659Q probably benign Het
Jhy T C 9: 40,922,752 T291A probably benign Het
Nbeal2 T C 9: 110,629,763 probably benign Het
Ncaph2 A G 15: 89,370,040 D367G probably damaging Het
Nmt2 T A 2: 3,314,809 F279I probably damaging Het
Oas2 A G 5: 120,738,363 F15S probably damaging Het
Pold2 T C 11: 5,872,412 E419G probably benign Het
Scn7a T G 2: 66,692,564 E932A probably damaging Het
Stradb T C 1: 58,988,529 S73P probably damaging Het
Unc80 G A 1: 66,608,437 G1512E probably benign Het
Vps13b G T 15: 35,846,900 D2610Y probably damaging Het
Other mutations in Syce1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Syce1l APN 8 113649502 missense probably damaging 0.99
IGL00783:Syce1l APN 8 113652862 missense probably benign 0.23
IGL02748:Syce1l APN 8 113655465 utr 3 prime probably benign
IGL03003:Syce1l APN 8 113654067 missense probably damaging 0.99
R0101:Syce1l UTSW 8 113655429 missense probably benign 0.41
R0486:Syce1l UTSW 8 113654763 critical splice acceptor site probably null
R0492:Syce1l UTSW 8 113654068 missense possibly damaging 0.86
R1709:Syce1l UTSW 8 113654030 critical splice acceptor site probably null
R1783:Syce1l UTSW 8 113654834 missense possibly damaging 0.66
R2307:Syce1l UTSW 8 113643305 critical splice donor site probably null
R3110:Syce1l UTSW 8 113654947 missense probably benign
R3111:Syce1l UTSW 8 113654947 missense probably benign
R3112:Syce1l UTSW 8 113654947 missense probably benign
R3790:Syce1l UTSW 8 113643265 missense possibly damaging 0.63
R5112:Syce1l UTSW 8 113651642 missense probably damaging 0.99
R5398:Syce1l UTSW 8 113652513 missense probably damaging 1.00
R6373:Syce1l UTSW 8 113649511 missense probably benign
Posted On2015-04-16