Incidental Mutation 'IGL01738:Serpina3b'
ID 105765
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina3b
Ensembl Gene ENSMUSG00000066364
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 3B
Synonyms alpha-1 antiproteinase, 6A1, antitrypsin, A030003A19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL01738
Quality Score
Status
Chromosome 12
Chromosomal Location 104094255-104105804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 104097091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 124 (L124R)
Ref Sequence ENSEMBL: ENSMUSP00000082127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085052]
AlphaFold Q8BYY9
Predicted Effect probably damaging
Transcript: ENSMUST00000085052
AA Change: L124R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082127
Gene: ENSMUSG00000066364
AA Change: L124R

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 56 417 1.1e-153 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A T 8: 106,436,668 (GRCm39) D288V probably damaging Het
Agtr1a G A 13: 30,565,021 (GRCm39) V29I probably benign Het
Akap6 G T 12: 52,933,600 (GRCm39) C364F probably damaging Het
Calcrl T G 2: 84,200,793 (GRCm39) M84L probably benign Het
Cep128 C A 12: 91,197,616 (GRCm39) G402C probably damaging Het
Cfap43 A G 19: 47,785,624 (GRCm39) L422P probably damaging Het
Cnbd2 C A 2: 156,217,537 (GRCm39) probably benign Het
Col27a1 A G 4: 63,182,016 (GRCm39) probably benign Het
Cyp3a44 A G 5: 145,731,745 (GRCm39) S134P probably damaging Het
Dync2h1 A C 9: 7,114,922 (GRCm39) L179R possibly damaging Het
Ell T A 8: 71,034,331 (GRCm39) probably benign Het
Gfm1 A G 3: 67,363,994 (GRCm39) E490G probably benign Het
Glt1d1 T G 5: 127,709,419 (GRCm39) probably benign Het
Gm10267 A T 18: 44,292,342 (GRCm39) I10K possibly damaging Het
Htra4 A G 8: 25,515,727 (GRCm39) V437A probably damaging Het
Ighv1-69 T C 12: 115,587,061 (GRCm39) Q24R possibly damaging Het
Igkv14-111 G A 6: 68,233,443 (GRCm39) probably benign Het
Ipcef1 A T 10: 6,840,575 (GRCm39) I374N probably damaging Het
Iqgap1 T C 7: 80,373,648 (GRCm39) D1447G possibly damaging Het
Mast4 A G 13: 102,873,749 (GRCm39) F1681S probably damaging Het
Mmp3 A T 9: 7,446,946 (GRCm39) N42I possibly damaging Het
Mybpc1 G T 10: 88,406,507 (GRCm39) F126L probably damaging Het
Myo1e A G 9: 70,266,652 (GRCm39) K631E probably damaging Het
Or8b43 A C 9: 38,360,942 (GRCm39) Y258S probably damaging Het
Pcsk5 T A 19: 17,411,144 (GRCm39) probably benign Het
Srgap2 T C 1: 131,224,164 (GRCm39) I95V probably benign Het
Sstr5 A T 17: 25,710,584 (GRCm39) I215N probably damaging Het
Top3b G A 16: 16,698,468 (GRCm39) V104M probably benign Het
Tspan8 G A 10: 115,653,570 (GRCm39) probably null Het
Vmn2r102 A G 17: 19,898,020 (GRCm39) Y345C probably damaging Het
Vmn2r17 G A 5: 109,577,364 (GRCm39) G472S probably damaging Het
Zmpste24 A T 4: 120,918,308 (GRCm39) L438Q probably damaging Het
Other mutations in Serpina3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Serpina3b APN 12 104,105,046 (GRCm39) missense probably benign 0.03
IGL00427:Serpina3b APN 12 104,099,200 (GRCm39) missense probably benign 0.06
IGL01637:Serpina3b APN 12 104,099,216 (GRCm39) missense probably benign 0.00
IGL02403:Serpina3b APN 12 104,096,721 (GRCm39) start codon destroyed probably null 1.00
IGL03118:Serpina3b APN 12 104,097,313 (GRCm39) missense probably benign 0.22
R0141:Serpina3b UTSW 12 104,097,030 (GRCm39) missense probably damaging 1.00
R0217:Serpina3b UTSW 12 104,096,986 (GRCm39) missense probably damaging 1.00
R0437:Serpina3b UTSW 12 104,096,929 (GRCm39) missense probably damaging 1.00
R1295:Serpina3b UTSW 12 104,097,138 (GRCm39) missense probably damaging 1.00
R1463:Serpina3b UTSW 12 104,104,969 (GRCm39) missense probably benign 0.02
R1802:Serpina3b UTSW 12 104,104,896 (GRCm39) missense probably damaging 1.00
R2104:Serpina3b UTSW 12 104,105,069 (GRCm39) missense probably benign 0.01
R3871:Serpina3b UTSW 12 104,105,047 (GRCm39) missense probably damaging 1.00
R4720:Serpina3b UTSW 12 104,096,889 (GRCm39) missense possibly damaging 0.80
R5827:Serpina3b UTSW 12 104,097,036 (GRCm39) missense probably benign 0.02
R5970:Serpina3b UTSW 12 104,100,350 (GRCm39) missense possibly damaging 0.82
R6014:Serpina3b UTSW 12 104,097,356 (GRCm39) missense possibly damaging 0.93
R6102:Serpina3b UTSW 12 104,100,428 (GRCm39) missense probably benign 0.00
R6673:Serpina3b UTSW 12 104,096,928 (GRCm39) missense probably damaging 0.96
R6807:Serpina3b UTSW 12 104,099,251 (GRCm39) missense probably benign 0.00
R6836:Serpina3b UTSW 12 104,100,341 (GRCm39) missense probably benign 0.30
R6893:Serpina3b UTSW 12 104,099,285 (GRCm39) missense probably benign 0.04
R7414:Serpina3b UTSW 12 104,099,145 (GRCm39) missense probably benign 0.03
R7539:Serpina3b UTSW 12 104,096,970 (GRCm39) missense possibly damaging 0.75
R7748:Serpina3b UTSW 12 104,096,722 (GRCm39) start codon destroyed probably null 1.00
R7817:Serpina3b UTSW 12 104,099,223 (GRCm39) missense probably benign 0.01
R8040:Serpina3b UTSW 12 104,097,335 (GRCm39) missense probably benign 0.00
R8143:Serpina3b UTSW 12 104,096,793 (GRCm39) missense probably benign 0.06
R8360:Serpina3b UTSW 12 104,104,962 (GRCm39) missense probably benign 0.00
Posted On 2014-01-21