Incidental Mutation 'IGL00423:Serpina6'
ID 4370
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina6
Ensembl Gene ENSMUSG00000060807
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 6
Synonyms Cbg
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL00423
Quality Score
Status
Chromosome 12
Chromosomal Location 103612889-103623471 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103618162 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q06770
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
Acan A G 7: 78,747,572 (GRCm39) E781G probably benign Het
Acp7 T C 7: 28,314,122 (GRCm39) T358A possibly damaging Het
Adamtsl2 C A 2: 26,975,100 (GRCm39) T199K probably damaging Het
Ap4e1 T A 2: 126,870,209 (GRCm39) S179T probably damaging Het
BC048671 A G 6: 90,280,200 (GRCm39) T39A probably benign Het
Cfap20dc G A 14: 8,473,370 (GRCm38) P600S possibly damaging Het
Cnr1 G A 4: 33,944,116 (GRCm39) S168N probably damaging Het
Cp T C 3: 20,039,826 (GRCm39) V881A possibly damaging Het
Cyp4x1 T C 4: 114,979,145 (GRCm39) T151A probably benign Het
Drd2 T C 9: 49,307,058 (GRCm39) I48T probably damaging Het
Gemin5 A T 11: 58,054,643 (GRCm39) I253N probably damaging Het
Herc3 T A 6: 58,845,700 (GRCm39) I407K probably damaging Het
Ighmbp2 G T 19: 3,318,704 (GRCm39) H457Q probably benign Het
Mboat1 A G 13: 30,379,776 (GRCm39) probably benign Het
Myh2 T C 11: 67,088,171 (GRCm39) V1929A probably benign Het
Nucb2 T A 7: 116,121,066 (GRCm39) probably benign Het
Pcsk5 T C 19: 17,619,923 (GRCm39) N383S probably benign Het
Pde1a A G 2: 79,696,014 (GRCm39) L443P probably damaging Het
Prph2 A T 17: 47,230,704 (GRCm39) N199I probably damaging Het
Rab27b A G 18: 70,129,138 (GRCm39) probably null Het
Ranbp3 G A 17: 57,016,238 (GRCm39) D336N probably damaging Het
Rangap1 T C 15: 81,606,194 (GRCm39) D49G probably benign Het
Rasa3 G A 8: 13,645,410 (GRCm39) probably benign Het
Sorbs2 A G 8: 46,252,743 (GRCm39) probably null Het
Spire1 A G 18: 67,662,085 (GRCm39) V116A probably damaging Het
Tdrd1 T C 19: 56,839,896 (GRCm39) V652A possibly damaging Het
Tmprss11g T C 5: 86,640,050 (GRCm39) E193G probably benign Het
Zfp451 A T 1: 33,816,660 (GRCm39) V213D probably benign Het
Other mutations in Serpina6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00910:Serpina6 APN 12 103,618,224 (GRCm39) unclassified probably benign
IGL01512:Serpina6 APN 12 103,620,318 (GRCm39) missense probably damaging 0.96
IGL02994:Serpina6 APN 12 103,620,210 (GRCm39) missense probably benign 0.03
IGL03092:Serpina6 APN 12 103,620,154 (GRCm39) critical splice donor site probably null
IGL03351:Serpina6 APN 12 103,613,172 (GRCm39) missense probably damaging 1.00
R0178:Serpina6 UTSW 12 103,613,172 (GRCm39) missense probably damaging 0.98
R0362:Serpina6 UTSW 12 103,618,208 (GRCm39) missense probably damaging 0.98
R0530:Serpina6 UTSW 12 103,618,053 (GRCm39) missense probably damaging 1.00
R1542:Serpina6 UTSW 12 103,620,732 (GRCm39) missense probably benign 0.09
R1573:Serpina6 UTSW 12 103,618,012 (GRCm39) missense probably damaging 1.00
R1764:Serpina6 UTSW 12 103,620,182 (GRCm39) missense probably damaging 1.00
R2243:Serpina6 UTSW 12 103,613,187 (GRCm39) missense probably benign 0.00
R2309:Serpina6 UTSW 12 103,620,438 (GRCm39) missense probably benign 0.00
R2363:Serpina6 UTSW 12 103,614,868 (GRCm39) missense probably benign 0.00
R3691:Serpina6 UTSW 12 103,620,668 (GRCm39) missense probably benign 0.00
R4492:Serpina6 UTSW 12 103,613,146 (GRCm39) missense probably damaging 1.00
R4498:Serpina6 UTSW 12 103,620,326 (GRCm39) missense probably benign 0.02
R4953:Serpina6 UTSW 12 103,618,221 (GRCm39) critical splice acceptor site probably null
R4985:Serpina6 UTSW 12 103,620,195 (GRCm39) missense probably benign 0.00
R5022:Serpina6 UTSW 12 103,617,971 (GRCm39) missense probably damaging 1.00
R5230:Serpina6 UTSW 12 103,618,157 (GRCm39) missense probably benign 0.18
R5318:Serpina6 UTSW 12 103,620,221 (GRCm39) missense possibly damaging 0.68
R5350:Serpina6 UTSW 12 103,614,838 (GRCm39) missense possibly damaging 0.68
R5569:Serpina6 UTSW 12 103,620,719 (GRCm39) missense possibly damaging 0.90
R5664:Serpina6 UTSW 12 103,620,726 (GRCm39) missense probably damaging 0.97
R5882:Serpina6 UTSW 12 103,620,494 (GRCm39) missense probably benign 0.00
R6275:Serpina6 UTSW 12 103,614,979 (GRCm39) missense probably benign 0.01
R6364:Serpina6 UTSW 12 103,620,495 (GRCm39) missense probably benign
R7173:Serpina6 UTSW 12 103,613,253 (GRCm39) missense possibly damaging 0.78
R7181:Serpina6 UTSW 12 103,613,203 (GRCm39) missense probably benign 0.00
R7725:Serpina6 UTSW 12 103,614,936 (GRCm39) nonsense probably null
R7811:Serpina6 UTSW 12 103,620,395 (GRCm39) missense probably damaging 1.00
R8418:Serpina6 UTSW 12 103,613,187 (GRCm39) missense probably damaging 0.98
R8770:Serpina6 UTSW 12 103,620,198 (GRCm39) missense probably benign 0.28
R8998:Serpina6 UTSW 12 103,617,988 (GRCm39) missense probably damaging 1.00
R8999:Serpina6 UTSW 12 103,617,988 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20