Incidental Mutation 'IGL00236:Scg5'
ID 26790
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scg5
Ensembl Gene ENSMUSG00000023236
Gene Name secretogranin V
Synonyms 7B2, Sgne1, Sgne-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL00236
Quality Score
Status
Chromosome 2
Chromosomal Location 113606707-113659466 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 113657915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024005] [ENSMUST00000102545] [ENSMUST00000110948] [ENSMUST00000110949]
AlphaFold P12961
Predicted Effect probably benign
Transcript: ENSMUST00000024005
SMART Domains Protein: ENSMUSP00000024005
Gene: ENSMUSG00000023236

DomainStartEndE-ValueType
Pfam:Secretogranin_V 23 160 4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102545
SMART Domains Protein: ENSMUSP00000099604
Gene: ENSMUSG00000041219

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
RhoGAP 63 236 1.97e-47 SMART
Blast:RhoGAP 288 349 3e-20 BLAST
low complexity region 490 501 N/A INTRINSIC
low complexity region 719 738 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110948
SMART Domains Protein: ENSMUSP00000106573
Gene: ENSMUSG00000041219

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
RhoGAP 63 236 1.97e-47 SMART
Blast:RhoGAP 288 349 6e-21 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000110949
SMART Domains Protein: ENSMUSP00000106574
Gene: ENSMUSG00000041219

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
RhoGAP 63 236 1.97e-47 SMART
Blast:RhoGAP 288 349 3e-20 BLAST
low complexity region 490 501 N/A INTRINSIC
low complexity region 719 738 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139975
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted chaperone protein that prevents the aggregation of other secreted proteins, including proteins that are associated with neurodegenerative and metabolic disease. The encoded protein may be best known for its role in the trafficking and activation of prohormone convertase PC2 (encoded by Gene ID: 5126). Phosphorylation of the encoded protein has been shown to have an inhibitory effect on its chaperone function. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene often die before weaning and display a variety of metabolic defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh1 A G 12: 87,490,467 (GRCm39) V43A probably damaging Het
Ankrd17 A T 5: 90,381,787 (GRCm39) S2460T probably damaging Het
Ap4e1 T C 2: 126,870,201 (GRCm39) L176P probably damaging Het
Caprin2 A G 6: 148,744,569 (GRCm39) I952T probably damaging Het
Cdkl4 A T 17: 80,832,705 (GRCm39) probably benign Het
Cfap44 T C 16: 44,227,767 (GRCm39) L156P probably damaging Het
Dock9 A G 14: 121,905,880 (GRCm39) L90S probably benign Het
Efhb T C 17: 53,769,481 (GRCm39) D276G probably damaging Het
Ep300 A G 15: 81,525,619 (GRCm39) D1481G unknown Het
Fam83b T C 9: 76,398,260 (GRCm39) I948V probably benign Het
Fbxl5 G T 5: 43,922,678 (GRCm39) H247N probably damaging Het
Fn1 A G 1: 71,692,032 (GRCm39) I37T probably benign Het
Hfe C T 13: 23,889,835 (GRCm39) probably benign Het
Ighv1-36 A T 12: 114,843,770 (GRCm39) L29Q possibly damaging Het
Inpp5e G T 2: 26,298,533 (GRCm39) Q23K probably benign Het
L3mbtl1 T C 2: 162,808,983 (GRCm39) S619P probably damaging Het
Myh8 T C 11: 67,174,644 (GRCm39) I253T probably damaging Het
Ntrk1 C T 3: 87,698,745 (GRCm39) V99M possibly damaging Het
Or51s1 T C 7: 102,558,479 (GRCm39) H189R probably damaging Het
Or5b124 A T 19: 13,610,903 (GRCm39) I143F probably benign Het
Pard6a T C 8: 106,429,446 (GRCm39) S135P probably damaging Het
Prss43 G T 9: 110,658,538 (GRCm39) Q279H probably benign Het
Ptcd2 T C 13: 99,466,573 (GRCm39) N207D probably benign Het
Ros1 T C 10: 52,070,986 (GRCm39) I23V probably benign Het
Sh3bp5 T A 14: 31,101,347 (GRCm39) K212* probably null Het
Slc25a30 C T 14: 76,004,365 (GRCm39) G244D possibly damaging Het
Slc38a10 T C 11: 119,997,428 (GRCm39) R689G probably damaging Het
Spatc1 A G 15: 76,168,994 (GRCm39) D321G probably damaging Het
Stat4 A T 1: 52,142,037 (GRCm39) Y628F probably damaging Het
Wdr35 G A 12: 9,069,900 (GRCm39) V813I probably benign Het
Other mutations in Scg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02124:Scg5 APN 2 113,622,382 (GRCm39) splice site probably benign
R3928:Scg5 UTSW 2 113,622,230 (GRCm39) missense probably damaging 0.97
R5265:Scg5 UTSW 2 113,607,210 (GRCm39) nonsense probably null
R6378:Scg5 UTSW 2 113,657,737 (GRCm39) missense possibly damaging 0.74
Posted On 2013-04-17