Incidental Mutation 'IGL00423:Serpina6'
ID4370
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: 0.077) question?
Stock #IGL00423
Quality Score
Status
Chromosome12
Chromosomal Location103646630-103657212 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 103651903 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 217 (N217I)
Ref Sequence ENSEMBL: ENSMUSP00000044033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044159] [ENSMUST00000152517]
Predicted Effect probably damaging
Transcript: ENSMUST00000044159
AA Change: N217I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000044033
Gene: ENSMUSG00000060807
AA Change: N217I

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik G A 14: 8,473,370 P600S possibly damaging Het
Acan A G 7: 79,097,824 E781G probably benign Het
Acp7 T C 7: 28,614,697 T358A possibly damaging Het
Adamtsl2 C A 2: 27,085,088 T199K probably damaging Het
Ap4e1 T A 2: 127,028,289 S179T probably damaging Het
BC048671 A G 6: 90,303,218 T39A probably benign Het
Cnr1 G A 4: 33,944,116 S168N probably damaging Het
Cp T C 3: 19,985,662 V881A possibly damaging Het
Cyp4x1 T C 4: 115,121,948 T151A probably benign Het
Drd2 T C 9: 49,395,758 I48T probably damaging Het
Gemin5 A T 11: 58,163,817 I253N probably damaging Het
Herc3 T A 6: 58,868,715 I407K probably damaging Het
Ighmbp2 G T 19: 3,268,704 H457Q probably benign Het
Mboat1 A G 13: 30,195,793 probably benign Het
Myh2 T C 11: 67,197,345 V1929A probably benign Het
Nucb2 T A 7: 116,521,831 probably benign Het
Pcsk5 T C 19: 17,642,559 N383S probably benign Het
Pde1a A G 2: 79,865,670 L443P probably damaging Het
Prph2 A T 17: 46,919,778 N199I probably damaging Het
Rab27b A G 18: 69,996,067 probably null Het
Ranbp3 G A 17: 56,709,238 D336N probably damaging Het
Rangap1 T C 15: 81,721,993 D49G probably benign Het
Rasa3 G A 8: 13,595,410 probably benign Het
Sorbs2 A G 8: 45,799,706 probably null Het
Spire1 A G 18: 67,529,015 V116A probably damaging Het
Tdrd1 T C 19: 56,851,464 V652A possibly damaging Het
Tmprss11g T C 5: 86,492,191 E193G probably benign Het
Zfp451 A T 1: 33,777,579 V213D probably benign Het
Other mutations in Serpina6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00910:Serpina6 APN 12 103651965 unclassified probably benign
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
Posted On2012-04-20