Incidental Mutation 'R4550:Serpina11'
ID 333922
Institutional Source Beutler Lab
Gene Symbol Serpina11
Ensembl Gene ENSMUSG00000063232
Gene Name serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11
Synonyms LOC380780
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R4550 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 103946502-103956216 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103949154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 341 (F341S)
Ref Sequence ENSEMBL: ENSMUSP00000074258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074693] [ENSMUST00000120251] [ENSMUST00000151709] [ENSMUST00000176246]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000074693
AA Change: F341S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074258
Gene: ENSMUSG00000063232
AA Change: F341S

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
SERPIN 64 424 3.55e-139 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120251
AA Change: F339S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112420
Gene: ENSMUSG00000063232
AA Change: F339S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SERPIN 62 422 3.55e-139 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139777
Predicted Effect probably benign
Transcript: ENSMUST00000151709
SMART Domains Protein: ENSMUSP00000115400
Gene: ENSMUSG00000063232

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
SERPIN 69 237 5.23e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176106
Predicted Effect probably benign
Transcript: ENSMUST00000176246
SMART Domains Protein: ENSMUSP00000135138
Gene: ENSMUSG00000063232

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SERPIN 62 258 3.22e-9 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd53 T C 6: 83,742,242 (GRCm39) V153A probably damaging Het
Ext1 A G 15: 52,965,182 (GRCm39) S395P probably damaging Het
Fhdc1 T C 3: 84,352,483 (GRCm39) K914R probably benign Het
Gm128 T C 3: 95,147,472 (GRCm39) D274G possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kmt2c G C 5: 25,505,172 (GRCm39) R3379G probably damaging Het
Myh14 T C 7: 44,283,857 (GRCm39) S675G probably damaging Het
Pop1 T C 15: 34,529,082 (GRCm39) F704S probably damaging Het
Ryr1 T C 7: 28,798,160 (GRCm39) T961A probably benign Het
Snapc1 C A 12: 74,017,053 (GRCm39) D9E probably damaging Het
Syt8 G T 7: 141,993,199 (GRCm39) V35L probably benign Het
Tchh A G 3: 93,352,617 (GRCm39) R686G unknown Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Other mutations in Serpina11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Serpina11 APN 12 103,952,329 (GRCm39) missense probably damaging 1.00
IGL01480:Serpina11 APN 12 103,949,110 (GRCm39) nonsense probably null
IGL03082:Serpina11 APN 12 103,952,560 (GRCm39) missense probably benign 0.40
R0195:Serpina11 UTSW 12 103,952,131 (GRCm39) missense probably damaging 1.00
R0233:Serpina11 UTSW 12 103,946,729 (GRCm39) missense probably benign 0.00
R0233:Serpina11 UTSW 12 103,946,729 (GRCm39) missense probably benign 0.00
R1318:Serpina11 UTSW 12 103,952,777 (GRCm39) splice site probably benign
R1796:Serpina11 UTSW 12 103,950,954 (GRCm39) missense probably damaging 1.00
R2102:Serpina11 UTSW 12 103,949,104 (GRCm39) missense probably benign 0.01
R2202:Serpina11 UTSW 12 103,952,233 (GRCm39) missense probably damaging 0.99
R2340:Serpina11 UTSW 12 103,951,002 (GRCm39) missense probably benign 0.02
R4528:Serpina11 UTSW 12 103,952,592 (GRCm39) missense probably benign 0.13
R4946:Serpina11 UTSW 12 103,950,923 (GRCm39) missense probably damaging 1.00
R5148:Serpina11 UTSW 12 103,952,503 (GRCm39) missense probably damaging 1.00
R5311:Serpina11 UTSW 12 103,952,221 (GRCm39) missense probably damaging 1.00
R6579:Serpina11 UTSW 12 103,951,007 (GRCm39) missense probably damaging 1.00
R7289:Serpina11 UTSW 12 103,952,761 (GRCm39) missense unknown
R7825:Serpina11 UTSW 12 103,950,836 (GRCm39) missense probably benign 0.02
R8773:Serpina11 UTSW 12 103,952,722 (GRCm39) missense unknown
X0028:Serpina11 UTSW 12 103,952,158 (GRCm39) missense probably benign 0.06
Z1177:Serpina11 UTSW 12 103,946,762 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- GATGGAAATGAAGTTGCCCATG -3'
(R):5'- ATCCCATAGGCTGGTATACCC -3'

Sequencing Primer
(F):5'- TGAAGTTGCCCATGAATAAAATCTG -3'
(R):5'- GGTATACCCTGCTCTCGCTCATAG -3'
Posted On 2015-08-18