Incidental Mutation 'IGL00847:Svs6'
ID278005
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Svs6
Ensembl Gene ENSMUSG00000017000
Gene Nameseminal vesicle secretory protein 6
SynonymsSvp6, SVS VI, MSVSP99
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL00847
Quality Score
Status
Chromosome2
Chromosomal Location164316751-164318453 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 164317587 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Threonine at position 90 (K90T)
Ref Sequence ENSEMBL: ENSMUSP00000017144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017144]
Predicted Effect possibly damaging
Transcript: ENSMUST00000017144
AA Change: K90T

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000017144
Gene: ENSMUSG00000017000
AA Change: K90T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 33 41 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T C 19: 57,152,290 E142G possibly damaging Het
Arid4a C T 12: 71,075,718 P958S probably damaging Het
BC049730 A G 7: 24,714,248 T230A probably benign Het
Cct5 T C 15: 31,590,927 probably benign Het
Cntnap4 C T 8: 112,767,619 probably benign Het
Col4a3 C T 1: 82,717,869 L1597F probably damaging Het
Gla C A X: 134,595,198 V179L probably benign Het
Gm20422 A T 8: 69,742,992 C212* probably null Het
Hace1 T A 10: 45,672,357 Y14* probably null Het
Hcfc2 T A 10: 82,741,278 probably null Het
Helz2 T C 2: 181,232,245 D2152G possibly damaging Het
Mcm8 T G 2: 132,819,674 L74V probably benign Het
Myo18b A G 5: 112,830,389 probably benign Het
Ptprg A T 14: 12,215,265 N1084I probably damaging Het
Rad21l C A 2: 151,660,715 A192S probably benign Het
Scn2a A G 2: 65,670,734 D80G probably damaging Het
Serpinb3c A G 1: 107,276,260 probably null Het
Sgip1 A G 4: 102,928,921 probably benign Het
Slc25a41 G T 17: 57,034,957 probably null Het
Snx14 C A 9: 88,420,329 R140S probably damaging Het
Tlcd1 T A 11: 78,180,088 Y168N probably damaging Het
Vps13d A G 4: 145,085,408 I3312T probably benign Het
Zfp11 A G 5: 129,657,914 V161A probably benign Het
Other mutations in Svs6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Svs6 APN 2 164317587 missense possibly damaging 0.85
IGL02000:Svs6 APN 2 164317432 splice site probably benign
R1108:Svs6 UTSW 2 164317660 critical splice donor site probably null
R1422:Svs6 UTSW 2 164317660 critical splice donor site probably null
R1733:Svs6 UTSW 2 164317657 splice site probably benign
R6225:Svs6 UTSW 2 164317485 missense possibly damaging 0.85
Posted On2015-04-16