Incidental Mutation 'R5164:Serpina1b'
ID 395608
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
MMRRC Submission 042745-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R5164 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 103694415-103704448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103698346 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 168 (S168P)
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: S168P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000093101
Gene: ENSMUSG00000071178
AA Change: S168P

DomainStartEndE-ValueType
SERPIN 53 410 7.62e-203 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164454
AA Change: S168P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000127266
Gene: ENSMUSG00000071178
AA Change: S168P

DomainStartEndE-ValueType
SERPIN 53 410 7.62e-203 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186166
AA Change: S168P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000139941
Gene: ENSMUSG00000071178
AA Change: S168P

DomainStartEndE-ValueType
SERPIN 53 410 7.62e-203 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187220
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (49/50)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,583,793 (GRCm39) H4637Q probably benign Het
Akap6 A G 12: 53,189,249 (GRCm39) H2221R probably benign Het
Arsj A T 3: 126,231,808 (GRCm39) M185L probably benign Het
Ccdc177 T C 12: 80,805,336 (GRCm39) T313A unknown Het
Cdkal1 A T 13: 29,809,702 (GRCm39) L214H probably damaging Het
Cfap44 T A 16: 44,301,752 (GRCm39) I1830N probably damaging Het
Cfap65 T C 1: 74,965,675 (GRCm39) K445R probably damaging Het
Chrnb3 T A 8: 27,884,160 (GRCm39) I299N probably damaging Het
Cse1l C A 2: 166,786,348 (GRCm39) D826E probably benign Het
Cwf19l2 T C 9: 3,475,511 (GRCm39) V816A probably damaging Het
Dnah5 A T 15: 28,408,438 (GRCm39) E3474D probably benign Het
Dock5 A T 14: 68,055,110 (GRCm39) Y585* probably null Het
Ebf2 T C 14: 67,627,970 (GRCm39) S322P possibly damaging Het
Epha8 T C 4: 136,672,983 (GRCm39) E267G possibly damaging Het
Fkbp5 A G 17: 28,656,964 (GRCm39) probably null Het
Gbp4 T A 5: 105,284,743 (GRCm39) K49* probably null Het
Gramd4 A T 15: 85,985,032 (GRCm39) T98S probably benign Het
Hectd1 C A 12: 51,874,272 (GRCm39) M1I probably null Het
Hsd17b8 A G 17: 34,245,952 (GRCm39) probably benign Het
Hycc2 T C 1: 58,574,597 (GRCm39) T315A probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Keg1 A G 19: 12,692,044 (GRCm39) probably benign Het
Lilra6 A T 7: 3,917,880 (GRCm39) V88E probably damaging Het
Mast1 A G 8: 85,640,147 (GRCm39) probably benign Het
Mdn1 A G 4: 32,759,011 (GRCm39) probably null Het
Nrdc C T 4: 108,896,914 (GRCm39) T511I probably damaging Het
Odad4 G A 11: 100,462,346 (GRCm39) W506* probably null Het
Or4c106 T A 2: 88,682,914 (GRCm39) L207I probably benign Het
Or5p6 G A 7: 107,631,487 (GRCm39) T21I possibly damaging Het
Or8k24 T C 2: 86,215,815 (GRCm39) T316A probably benign Het
Pms1 A G 1: 53,246,799 (GRCm39) V301A probably damaging Het
Pnisr A T 4: 21,859,237 (GRCm39) Q144L possibly damaging Het
Pp2d1 G T 17: 53,815,098 (GRCm39) T542K probably benign Het
Ppargc1b A T 18: 61,435,715 (GRCm39) C922S probably damaging Het
Ptprd T C 4: 76,018,995 (GRCm39) probably null Het
Runx3 T C 4: 134,848,441 (GRCm39) S9P possibly damaging Het
Slc14a2 G A 18: 78,200,487 (GRCm39) A722V probably damaging Het
Slc23a2 T A 2: 131,917,370 (GRCm39) probably benign Het
Slc47a1 A G 11: 61,243,886 (GRCm39) probably null Het
Tcf20 A G 15: 82,740,804 (GRCm39) S216P probably damaging Het
Tpst1 T A 5: 130,130,842 (GRCm39) I104N probably damaging Het
Ufm1 A C 3: 53,765,348 (GRCm39) probably benign Het
Unkl A G 17: 25,432,083 (GRCm39) probably null Het
Usf3 T C 16: 44,038,543 (GRCm39) S1008P probably damaging Het
Ythdf3 T C 3: 16,237,677 (GRCm39) V6A possibly damaging Het
Zc3h3 A T 15: 75,648,875 (GRCm39) S752R probably benign Het
Zfp268 T C 4: 145,348,775 (GRCm39) Y71H 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
R2383:Serpina1b UTSW 12 103,694,539 (GRCm39) missense probably benign
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
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'- GAGAGCTCAGAAACTGGTCCTC -3'
(R):5'- CACACAAACATCGGAGGCTG -3'

Sequencing Primer
(F):5'- CCTCAAGAATATGTATGGGTGTCTCC -3'
(R):5'- GGAGGCTGACATCCACAAGTC -3'
Posted On 2016-06-21