Incidental Mutation 'IGL00910:Serpina6'
ID28711
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina6
Ensembl Gene ENSMUSG00000060807
Gene Nameserine (or cysteine) peptidase inhibitor, clade A, member 6
SynonymsCbg
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL00910
Quality Score
Status
Chromosome12
Chromosomal Location103646630-103657212 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to T at 103651965 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044159] [ENSMUST00000152517]
Predicted Effect probably benign
Transcript: ENSMUST00000044159
SMART Domains Protein: ENSMUSP00000044033
Gene: ENSMUSG00000060807

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SERPIN 43 396 3.45e-160 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152517
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that belongs to the serpin (serine protease inhibitor) family. The encoded protein is an alpha-globulin with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors. [provided by RefSeq, Sep 2015]
PHENOTYPE: Null homozygotes exhibit reduced total plasma corticosterone, increased susceptibility to bacterial infection, attenuation of the stress-induced surge in free corticosterone, and enhanced behavioral response to intense or uncontrollable stress. They exhibit no locomotor sensitization to cocaine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A G 15: 84,955,819 L109P probably damaging Het
Aacs T A 5: 125,508,708 M316K probably benign Het
Adarb2 T C 13: 8,672,433 V375A probably damaging Het
Adgra2 C A 8: 27,085,983 A13E possibly damaging Het
Ankrd34c A T 9: 89,729,026 S421T probably benign Het
Bpifa6 A T 2: 153,990,466 M298L probably benign Het
Casq2 T C 3: 102,110,231 probably benign Het
Ckap5 A G 2: 91,576,050 T762A probably benign Het
Dhx38 A G 8: 109,559,034 V389A probably benign Het
Dnah7b A T 1: 46,066,729 probably benign Het
Dnajc7 A T 11: 100,599,191 F79L possibly damaging Het
Dyrk3 A G 1: 131,136,336 I3T possibly damaging Het
Fam84a T C 12: 14,150,526 S67G probably benign Het
Fchsd2 T C 7: 101,277,626 I641T probably benign Het
Furin A G 7: 80,390,996 V698A probably benign Het
Prl2c5 G A 13: 13,189,476 probably null Het
Ryr3 A T 2: 112,728,934 probably benign Het
Slc6a2 A G 8: 92,996,100 Y575C probably damaging Het
Trim9 T C 12: 70,347,113 E19G probably damaging Het
Tsfm G T 10: 127,028,359 probably benign Het
Other mutations in Serpina6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Serpina6 APN 12 103651903 missense probably damaging 1.00
IGL01512:Serpina6 APN 12 103654059 missense probably damaging 0.96
IGL02994:Serpina6 APN 12 103653951 missense probably benign 0.03
IGL03092:Serpina6 APN 12 103653895 critical splice donor site probably null
IGL03351:Serpina6 APN 12 103646913 missense probably damaging 1.00
R0178:Serpina6 UTSW 12 103646913 missense probably damaging 0.98
R0362:Serpina6 UTSW 12 103651949 missense probably damaging 0.98
R0530:Serpina6 UTSW 12 103651794 missense probably damaging 1.00
R1542:Serpina6 UTSW 12 103654473 missense probably benign 0.09
R1573:Serpina6 UTSW 12 103651753 missense probably damaging 1.00
R1764:Serpina6 UTSW 12 103653923 missense probably damaging 1.00
R2243:Serpina6 UTSW 12 103646928 missense probably benign 0.00
R2309:Serpina6 UTSW 12 103654179 missense probably benign 0.00
R2363:Serpina6 UTSW 12 103648609 missense probably benign 0.00
R3691:Serpina6 UTSW 12 103654409 missense probably benign 0.00
R4492:Serpina6 UTSW 12 103646887 missense probably damaging 1.00
R4498:Serpina6 UTSW 12 103654067 missense probably benign 0.02
R4953:Serpina6 UTSW 12 103651962 critical splice acceptor site probably null
R4985:Serpina6 UTSW 12 103653936 missense probably benign 0.00
R5022:Serpina6 UTSW 12 103651712 missense probably damaging 1.00
R5230:Serpina6 UTSW 12 103651898 missense probably benign 0.18
R5318:Serpina6 UTSW 12 103653962 missense possibly damaging 0.68
R5350:Serpina6 UTSW 12 103648579 missense possibly damaging 0.68
R5569:Serpina6 UTSW 12 103654460 missense possibly damaging 0.90
R5664:Serpina6 UTSW 12 103654467 missense probably damaging 0.97
R5882:Serpina6 UTSW 12 103654235 missense probably benign 0.00
R6275:Serpina6 UTSW 12 103648720 missense probably benign 0.01
R6364:Serpina6 UTSW 12 103654236 missense probably benign
R7173:Serpina6 UTSW 12 103646994 missense possibly damaging 0.78
R7181:Serpina6 UTSW 12 103646944 missense probably benign 0.00
R7725:Serpina6 UTSW 12 103648677 nonsense probably null
R7811:Serpina6 UTSW 12 103654136 missense probably damaging 1.00
R8418:Serpina6 UTSW 12 103646928 missense probably damaging 0.98
Posted On2013-04-17