Incidental Mutation 'IGL03092:Serpina6'
ID 418430
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 # IGL03092
Quality Score
Status
Chromosome 12
Chromosomal Location 103612889-103623471 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 103620154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000044033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044159] [ENSMUST00000152517]
AlphaFold Q06770
Predicted Effect probably null
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,200,119 (GRCm39) L491P probably damaging Het
Abcc6 T A 7: 45,635,894 (GRCm39) D1051V probably damaging Het
Actmap T C 7: 26,900,561 (GRCm39) M180T probably damaging Het
Aqr T A 2: 113,989,424 (GRCm39) E133V probably benign Het
Bag6 A G 17: 35,364,603 (GRCm39) N911D probably damaging Het
Cdcp3 G T 7: 130,803,527 (GRCm39) probably null Het
Ces4a C T 8: 105,874,836 (GRCm39) probably benign Het
Clec3b A T 9: 122,980,100 (GRCm39) probably benign Het
Cnot1 T C 8: 96,496,243 (GRCm39) probably benign Het
Ctsg T A 14: 56,337,417 (GRCm39) *262L probably null Het
Cyp17a1 T A 19: 46,661,050 (GRCm39) H78L possibly damaging Het
Dcaf13 C A 15: 38,991,371 (GRCm39) probably benign Het
Dcun1d1 G T 3: 35,975,141 (GRCm39) Q52K possibly damaging Het
Ddb1 C T 19: 10,590,309 (GRCm39) R279W probably damaging Het
Dock1 A G 7: 134,366,945 (GRCm39) probably benign Het
Dsel A G 1: 111,787,793 (GRCm39) L914P probably damaging Het
Fbxo31 A G 8: 122,286,757 (GRCm39) F174L probably benign Het
Gm9116 A G 3: 93,817,513 (GRCm39) noncoding transcript Het
Gspt1 C T 16: 11,056,763 (GRCm39) V211I probably benign Het
Hmgb1 A T 5: 148,987,508 (GRCm39) S14T probably benign Het
Igsf8 A G 1: 172,140,096 (GRCm39) probably benign Het
Klf13 A G 7: 63,541,417 (GRCm39) F237L probably damaging Het
Mon2 A T 10: 122,854,005 (GRCm39) I962N probably damaging Het
Nfx1 A G 4: 41,024,851 (GRCm39) D1108G probably damaging Het
Nr2e1 T C 10: 42,447,478 (GRCm39) Y178C probably damaging Het
Or4d10c C A 19: 12,065,230 (GRCm39) E309* probably null Het
Or52d1 A T 7: 103,755,854 (GRCm39) I123F probably damaging Het
Pde3b A T 7: 114,122,583 (GRCm39) H717L probably damaging Het
Polr1b T C 2: 128,965,049 (GRCm39) Y712H probably damaging Het
Pramel16 C A 4: 143,676,767 (GRCm39) K112N probably damaging Het
Rnf157 T A 11: 116,238,795 (GRCm39) probably null Het
Ros1 T C 10: 51,974,902 (GRCm39) E1561G probably damaging Het
St18 A G 1: 6,839,118 (GRCm39) probably benign Het
Ugp2 A G 11: 21,279,722 (GRCm39) probably benign Het
Vmn1r70 T C 7: 10,368,186 (GRCm39) S225P probably benign Het
Zfp641 T C 15: 98,188,397 (GRCm39) D161G probably damaging Het
Other mutations in Serpina6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Serpina6 APN 12 103,618,162 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02