Incidental Mutation 'IGL03392:Serpina1b'
ID421115
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina1b
Ensembl Gene ENSMUSG00000071178
Gene Nameserine (or cysteine) preptidase inhibitor, clade A, member 1B
SynonymsPI2, D12Ucla2, Spi1-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.125) question?
Stock #IGL03392
Quality Score
Status
Chromosome12
Chromosomal Location103728156-103830373 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 103732070 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 173 (K173N)
Ref Sequence ENSEMBL: ENSMUSP00000139941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095450] [ENSMUST00000164454] [ENSMUST00000186166] [ENSMUST00000187220]
Predicted Effect possibly damaging
Transcript: ENSMUST00000095450
AA Change: K173N

PolyPhen 2 Score 0.531 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000093101
Gene: ENSMUSG00000071178
AA Change: K173N

DomainStartEndE-ValueType
SERPIN 53 410 7.62e-203 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000164454
AA Change: K173N

PolyPhen 2 Score 0.531 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127266
Gene: ENSMUSG00000071178
AA Change: K173N

DomainStartEndE-ValueType
SERPIN 53 410 7.62e-203 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000186166
AA Change: K173N

PolyPhen 2 Score 0.531 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000139941
Gene: ENSMUSG00000071178
AA Change: K173N

DomainStartEndE-ValueType
SERPIN 53 410 7.62e-203 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187220
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Targeted disruption of this gene leads to significantly fewer than expected heterozygous and homozygous offspring from heterozygous matings. Homozygotes are healthy with no obvious changes in major organs while heterozygotes show a 30% decrease in serum anti-elastase and anti-chymotrypsin activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,562,011 D692E probably damaging Het
Adgrb3 T A 1: 25,504,448 R366S probably damaging Het
Afg3l2 C A 18: 67,414,069 probably benign Het
Cd5 T C 19: 10,726,289 probably benign Het
Cnbd1 A G 4: 18,862,111 S360P probably damaging Het
Col13a1 A T 10: 61,885,711 L305I possibly damaging Het
Commd7 A T 2: 153,622,764 probably benign Het
Cpsf6 A T 10: 117,367,979 Y23N probably damaging Het
Cry1 A G 10: 85,157,129 V75A possibly damaging Het
Cyp2c39 A G 19: 39,513,323 N107D probably benign Het
Dcaf11 T A 14: 55,561,421 V45E probably damaging Het
Dnm2 A G 9: 21,474,611 E310G probably damaging Het
Fat3 T A 9: 16,003,862 I1597L probably benign Het
Fcamr A G 1: 130,800,948 probably benign Het
Fer A G 17: 63,991,642 I529V probably damaging Het
Fhdc1 T C 3: 84,444,519 K1133R possibly damaging Het
Foxd3 A G 4: 99,657,195 K191E probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gbp8 A G 5: 105,016,544 probably null Het
Glb1 T G 9: 114,430,321 N106K probably damaging Het
Hpx A G 7: 105,592,402 I295T probably damaging Het
Ipo5 T A 14: 120,942,687 D844E probably damaging Het
Krt17 T C 11: 100,259,735 I159V possibly damaging Het
Lgi4 G A 7: 31,063,180 probably null Het
Lrrc49 T C 9: 60,666,280 probably benign Het
Ltn1 T C 16: 87,425,611 K178R probably damaging Het
Myh8 T A 11: 67,294,418 W832R probably damaging Het
Nbn A G 4: 15,962,362 N30S probably damaging Het
Olfr1245 A T 2: 89,575,249 V159D probably damaging Het
Olfr1312 T A 2: 112,042,976 N19Y probably benign Het
Olfr137 A G 17: 38,304,895 S189P probably benign Het
Olfr632 T C 7: 103,938,025 V215A probably benign Het
Pcdh15 A T 10: 74,624,272 I1314F probably damaging Het
Phf14 G A 6: 11,962,659 S435N probably damaging Het
Prss45 T A 9: 110,840,550 Y231* probably null Het
Pus7l T C 15: 94,536,568 D339G probably damaging Het
Sbk2 A G 7: 4,957,409 F254S probably damaging Het
Slc13a5 G A 11: 72,245,178 T469I probably damaging Het
Spon1 A G 7: 114,034,287 E655G probably damaging Het
Sv2b T C 7: 75,156,760 probably null Het
Treh A G 9: 44,685,931 D514G probably damaging Het
Umodl1 T A 17: 30,996,355 L1051Q probably damaging Het
Usp5 A G 6: 124,826,387 F4S probably damaging Het
Vmn1r16 A G 6: 57,322,894 S248P probably damaging Het
Other mutations in Serpina1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00544:Serpina1b APN 12 103729296 missense possibly damaging 0.90
IGL00990:Serpina1b APN 12 103728266 missense probably damaging 1.00
IGL01947:Serpina1b APN 12 103729317 missense probably benign 0.00
IGL03258:Serpina1b APN 12 103730396 missense probably benign 0.00
R1937:Serpina1b UTSW 12 103732161 missense probably benign 0.00
R2383:Serpina1b UTSW 12 103728280 missense probably benign
R3789:Serpina1b UTSW 12 103729272 missense probably damaging 1.00
R4690:Serpina1b UTSW 12 103732380 missense probably damaging 1.00
R5164:Serpina1b UTSW 12 103732087 missense probably benign 0.01
R5650:Serpina1b UTSW 12 103728435 critical splice acceptor site probably null
R6017:Serpina1b UTSW 12 103729272 missense probably damaging 1.00
R6241:Serpina1b UTSW 12 103729256 splice site probably null
R6522:Serpina1b UTSW 12 103735037 splice site probably null
R6745:Serpina1b UTSW 12 103730355 missense possibly damaging 0.60
R6884:Serpina1b UTSW 12 103732453 missense probably benign 0.00
R7053:Serpina1b UTSW 12 103732429 missense possibly damaging 0.93
R7208:Serpina1b UTSW 12 103728294 missense probably benign 0.04
R7679:Serpina1b UTSW 12 103730515 missense probably damaging 1.00
R7908:Serpina1b UTSW 12 103728307 missense possibly damaging 0.65
R8056:Serpina1b UTSW 12 103817878 intron probably benign
Posted On2016-08-02