Incidental Mutation 'R2383:Serpina1b'
ID 247611
Institutional Source Beutler Lab
Gene Symbol Serpina1b
Ensembl Gene ENSMUSG00000071178
Gene Name serine (or cysteine) preptidase inhibitor, clade A, member 1B
Synonyms PI2, D12Ucla2, Spi1-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R2383 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 103694415-103704448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103694539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 402 (I402F)
Ref Sequence ENSEMBL: ENSMUSP00000139941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095450] [ENSMUST00000164454] [ENSMUST00000186166] [ENSMUST00000187220]
AlphaFold P22599
Predicted Effect probably benign
Transcript: ENSMUST00000095450
AA Change: I402F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093101
Gene: ENSMUSG00000071178
AA Change: I402F

DomainStartEndE-ValueType
SERPIN 53 410 7.62e-203 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164454
AA Change: I402F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127266
Gene: ENSMUSG00000071178
AA Change: I402F

DomainStartEndE-ValueType
SERPIN 53 410 7.62e-203 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186166
AA Change: I402F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139941
Gene: ENSMUSG00000071178
AA Change: I402F

DomainStartEndE-ValueType
SERPIN 53 410 7.62e-203 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187220
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam33 T C 2: 130,893,282 (GRCm39) T748A probably benign Het
Afg3l2 A G 18: 67,556,026 (GRCm39) V435A possibly damaging Het
Ccdc170 G A 10: 4,484,208 (GRCm39) E345K probably benign Het
Chd2 T C 7: 73,153,168 (GRCm39) I227V possibly damaging Het
Cndp2 C A 18: 84,693,215 (GRCm39) D182Y possibly damaging Het
Col14a1 A T 15: 55,310,913 (GRCm39) probably benign Het
Cyp2e1 C T 7: 140,349,981 (GRCm39) S222L probably benign Het
Evx2 T C 2: 74,488,393 (GRCm39) probably null Het
Kics2 A G 10: 121,586,554 (GRCm39) T290A possibly damaging Het
L1td1 A G 4: 98,625,959 (GRCm39) E718G possibly damaging Het
Lgr4 T C 2: 109,830,960 (GRCm39) S296P probably damaging Het
Lrrc7 T C 3: 157,869,593 (GRCm39) M709V probably benign Het
Mtbp G A 15: 55,429,590 (GRCm39) G162D probably damaging Het
Nap1l1 T G 10: 111,329,272 (GRCm39) D295E probably damaging Het
Or2f1b A T 6: 42,739,393 (GRCm39) M136L probably benign Het
Plrg1 C T 3: 82,973,255 (GRCm39) P178S probably damaging Het
Sla T A 15: 66,654,525 (GRCm39) I254F probably damaging Het
Slc25a29 A G 12: 108,792,934 (GRCm39) S215P probably damaging Het
Thoc2l T C 5: 104,666,854 (GRCm39) S459P probably benign Het
Tiam1 A G 16: 89,595,572 (GRCm39) V1303A probably benign Het
Trim45 A T 3: 100,832,543 (GRCm39) I259F probably damaging Het
Ttn T C 2: 76,536,856 (GRCm39) S34990G probably benign Het
Zbtb48 A G 4: 152,111,407 (GRCm39) V36A probably damaging Het
Other mutations in Serpina1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00544:Serpina1b APN 12 103,695,555 (GRCm39) missense possibly damaging 0.90
IGL00990:Serpina1b APN 12 103,694,525 (GRCm39) missense probably damaging 1.00
IGL01947:Serpina1b APN 12 103,695,576 (GRCm39) missense probably benign 0.00
IGL03258:Serpina1b APN 12 103,696,655 (GRCm39) missense probably benign 0.00
IGL03392:Serpina1b APN 12 103,698,329 (GRCm39) missense possibly damaging 0.53
R1937:Serpina1b UTSW 12 103,698,420 (GRCm39) missense probably benign 0.00
R3789:Serpina1b UTSW 12 103,695,531 (GRCm39) missense probably damaging 1.00
R4690:Serpina1b UTSW 12 103,698,639 (GRCm39) missense probably damaging 1.00
R5164:Serpina1b UTSW 12 103,698,346 (GRCm39) missense probably benign 0.01
R5650:Serpina1b UTSW 12 103,694,694 (GRCm39) critical splice acceptor site probably null
R6017:Serpina1b UTSW 12 103,695,531 (GRCm39) missense probably damaging 1.00
R6241:Serpina1b UTSW 12 103,695,515 (GRCm39) splice site probably null
R6522:Serpina1b UTSW 12 103,701,296 (GRCm39) splice site probably null
R6745:Serpina1b UTSW 12 103,696,614 (GRCm39) missense possibly damaging 0.60
R6884:Serpina1b UTSW 12 103,698,712 (GRCm39) missense probably benign 0.00
R7053:Serpina1b UTSW 12 103,698,688 (GRCm39) missense possibly damaging 0.93
R7208:Serpina1b UTSW 12 103,694,553 (GRCm39) missense probably benign 0.04
R7679:Serpina1b UTSW 12 103,696,774 (GRCm39) missense probably damaging 1.00
R7908:Serpina1b UTSW 12 103,694,566 (GRCm39) missense possibly damaging 0.65
R8056:Serpina1b UTSW 12 103,784,137 (GRCm39) intron probably benign
R8237:Serpina1b UTSW 12 103,785,063 (GRCm39) splice site probably null
R9092:Serpina1b UTSW 12 103,696,540 (GRCm39) missense probably benign 0.00
R9112:Serpina1b UTSW 12 103,698,699 (GRCm39) missense probably benign 0.08
R9123:Serpina1b UTSW 12 103,696,566 (GRCm39) missense probably damaging 1.00
R9310:Serpina1b UTSW 12 103,698,756 (GRCm39) missense probably benign 0.03
R9358:Serpina1b UTSW 12 103,694,653 (GRCm39) missense possibly damaging 0.61
R9409:Serpina1b UTSW 12 103,694,607 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGTCCACAACAAACTCAGGG -3'
(R):5'- AATCACTCTACCTGCAACTGG -3'

Sequencing Primer
(F):5'- GTCCACAACAAACTCAGGGCATAAAG -3'
(R):5'- TACCTGCAACTGGGCCTCTG -3'
Posted On 2014-11-11