Incidental Mutation 'IGL03351:Serpina6'
ID 419713
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
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL03351
Quality Score
Status
Chromosome 12
Chromosomal Location 103646630-103657212 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103646913 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 376 (I376N)
Ref Sequence ENSEMBL: ENSMUSP00000044033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044159]
AlphaFold Q06770
Predicted Effect probably damaging
Transcript: ENSMUST00000044159
AA Change: I376N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044033
Gene: ENSMUSG00000060807
AA Change: I376N

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SERPIN 43 396 3.45e-160 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185363
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550L24Rik G A X: 58,918,937 V19I probably benign Het
4932414N04Rik T A 2: 68,731,083 D251E probably benign Het
4932415D10Rik T C 10: 82,283,567 probably benign Het
5730460C07Rik C T 3: 153,789,958 noncoding transcript Het
Coch G A 12: 51,603,206 R326Q probably benign Het
Cpa3 A G 3: 20,215,962 V366A probably benign Het
Csf1r C T 18: 61,117,108 Q382* probably null Het
Csta1 C A 16: 36,131,041 G4* probably null Het
Cts7 T C 13: 61,356,603 R49G probably damaging Het
Dlg5 A G 14: 24,170,454 V575A probably benign Het
Ero1l G T 14: 45,294,533 N227K probably benign Het
Faap24 G T 7: 35,395,309 C58* probably null Het
Gm13089 G A 4: 143,697,088 T377I possibly damaging Het
Hfm1 G A 5: 106,911,575 Q194* probably null Het
Hs3st5 T A 10: 36,833,323 Y285N probably damaging Het
Hyal6 G A 6: 24,743,429 G375R probably damaging Het
Itgb5 T C 16: 33,910,552 S93P probably benign Het
Kcnj6 A T 16: 94,832,583 M205K probably damaging Het
Kdm6a C T X: 18,247,104 Q92* probably null Het
Klhl38 A G 15: 58,323,330 M1T probably null Het
Krtap7-1 T C 16: 89,507,996 probably benign Het
L1cam T C X: 73,863,028 T270A probably damaging Het
Lmod2 A G 6: 24,598,016 N45S probably benign Het
Mmp2 A G 8: 92,839,342 I424V probably benign Het
Myh8 A G 11: 67,303,913 Q1650R possibly damaging Het
Naalad2 T A 9: 18,364,187 E313V possibly damaging Het
Nipsnap3a A G 4: 52,994,134 T74A probably benign Het
Npr2 G T 4: 43,640,652 M368I probably benign Het
Nupl1 T C 14: 60,228,775 T445A probably benign Het
Olfr294 A G 7: 86,615,677 Y323H possibly damaging Het
Olfr582 A G 7: 103,042,130 D212G probably damaging Het
Pkp3 A G 7: 141,082,693 T73A probably benign Het
Pole A G 5: 110,301,998 probably benign Het
Ppp2r3a C T 9: 101,211,192 G644D probably benign Het
Ptprb T C 10: 116,339,582 Y1161H probably benign Het
Ptprs T A 17: 56,437,943 K264N probably damaging Het
Rasal2 T C 1: 157,192,741 probably benign Het
Setx T G 2: 29,161,799 I2062M probably benign Het
Slc9c1 A G 16: 45,543,168 D99G probably benign Het
Taok1 A G 11: 77,560,328 Y309H probably damaging Het
Trappc10 T C 10: 78,188,761 D1178G probably damaging Het
Trav5-1 G A 14: 52,622,845 E36K probably damaging Het
Vmn1r237 T C 17: 21,314,837 V274A probably benign Het
Vmn1r29 A T 6: 58,307,750 S152C probably damaging Het
Washc5 C A 15: 59,363,350 probably benign Het
Zfp369 T G 13: 65,296,153 L370R possibly damaging Het
Zfp750 T C 11: 121,513,347 Y234C probably damaging Het
Other mutations in Serpina6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Serpina6 APN 12 103651903 missense probably damaging 1.00
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
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
R8770:Serpina6 UTSW 12 103653939 missense probably benign 0.28
R8998:Serpina6 UTSW 12 103651729 missense probably damaging 1.00
R8999:Serpina6 UTSW 12 103651729 missense probably damaging 1.00
Posted On 2016-08-02