Incidental Mutation 'IGL02211:Serpina7'
ID 284699
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina7
Ensembl Gene ENSMUSG00000031271
Gene Name serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
Synonyms C730040N12Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL02211
Quality Score
Status
Chromosome X
Chromosomal Location 137980006-137985985 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 137982062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 185 (T185I)
Ref Sequence ENSEMBL: ENSMUSP00000056166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033625] [ENSMUST00000033626] [ENSMUST00000060824] [ENSMUST00000152457]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000033625
SMART Domains Protein: ENSMUSP00000033625
Gene: ENSMUSG00000031270

DomainStartEndE-ValueType
low complexity region 97 112 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000033626
AA Change: T324I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000033626
Gene: ENSMUSG00000031271
AA Change: T324I

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
SERPIN 62 423 2.25e-173 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000060824
AA Change: T185I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056166
Gene: ENSMUSG00000031271
AA Change: T185I

DomainStartEndE-ValueType
SERPIN 2 284 1.82e-77 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152457
SMART Domains Protein: ENSMUSP00000120672
Gene: ENSMUSG00000031271

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SCOP:d1imva_ 32 72 1e-7 SMART
PDB:2XN3|A 37 72 5e-13 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.[provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apoc3 C A 9: 46,144,513 (GRCm39) probably benign Het
Atp8a2 C T 14: 60,265,425 (GRCm39) G304R probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cct4 A G 11: 22,943,327 (GRCm39) probably benign Het
Cd28 T C 1: 60,802,153 (GRCm39) V24A probably damaging Het
Cfap70 T C 14: 20,445,040 (GRCm39) N1080S probably damaging Het
Cpa6 A T 1: 10,665,861 (GRCm39) I59K possibly damaging Het
Cramp1 A G 17: 25,196,610 (GRCm39) S835P possibly damaging Het
Crim1 T C 17: 78,662,574 (GRCm39) L799S probably damaging Het
Cxcl16 T C 11: 70,346,858 (GRCm39) H95R possibly damaging Het
Dip2c T A 13: 9,660,883 (GRCm39) C915S probably damaging Het
Dytn T A 1: 63,714,089 (GRCm39) N137Y possibly damaging Het
Exoc5 T A 14: 49,251,667 (GRCm39) Q628L probably damaging Het
Flii A G 11: 60,609,124 (GRCm39) probably benign Het
Hnrnph3 A T 10: 62,853,121 (GRCm39) probably benign Het
Iqsec1 A G 6: 90,648,591 (GRCm39) L830P probably damaging Het
Kank1 G T 19: 25,407,702 (GRCm39) G1232V probably damaging Het
Kcnmb2 A G 3: 32,252,483 (GRCm39) E228G probably damaging Het
Limk1 A T 5: 134,686,491 (GRCm39) V538E probably damaging Het
Mmp20 T A 9: 7,655,071 (GRCm39) I393K probably damaging Het
Mtmr1 A G X: 70,455,863 (GRCm39) D574G possibly damaging Het
Nr1h2 A C 7: 44,199,884 (GRCm39) M345R probably damaging Het
Nyap1 T C 5: 137,737,937 (GRCm39) H15R probably damaging Het
Or2ak4 G T 11: 58,649,196 (GRCm39) S235I possibly damaging Het
Or52h7 A T 7: 104,214,333 (GRCm39) K302* probably null Het
Pde4b T G 4: 102,448,019 (GRCm39) probably benign Het
Pgrmc2 A G 3: 41,037,068 (GRCm39) V121A probably damaging Het
Ptges3 T C 10: 127,911,927 (GRCm39) probably benign Het
Ranbp2 T C 10: 58,314,064 (GRCm39) S1595P probably benign Het
Rhbdf2 A G 11: 116,491,261 (GRCm39) F625L possibly damaging Het
Rhpn1 T C 15: 75,582,905 (GRCm39) S281P possibly damaging Het
Samd3 G T 10: 26,109,455 (GRCm39) G128W probably damaging Het
Septin5 T C 16: 18,443,629 (GRCm39) K51E probably damaging Het
Slc25a25 A G 2: 32,307,452 (GRCm39) V303A probably damaging Het
Slc5a4b A T 10: 75,896,297 (GRCm39) probably benign Het
Srpk3 A T X: 72,818,754 (GRCm39) H114L probably benign Het
Sybu T G 15: 44,536,862 (GRCm39) Q360P probably damaging Het
Vmn1r179 A T 7: 23,628,630 (GRCm39) I274F probably benign Het
Wdsub1 G T 2: 59,689,080 (GRCm39) R381S probably damaging Het
Wscd1 G A 11: 71,679,801 (GRCm39) R558H probably damaging Het
Other mutations in Serpina7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Serpina7 APN X 137,983,886 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16