Incidental Mutation 'IGL01553:Serpinb6b'
ID 90631
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb6b
Ensembl Gene ENSMUSG00000042842
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 6b
Synonyms NK13, ovalbumin, Spi12
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL01553
Quality Score
Status
Chromosome 13
Chromosomal Location 32965209-32979067 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32974948 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 44 (L44P)
Ref Sequence ENSEMBL: ENSMUSP00000152419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017184] [ENSMUST00000110293] [ENSMUST00000164541]
AlphaFold O08804
Predicted Effect probably damaging
Transcript: ENSMUST00000017184
AA Change: L163P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017184
Gene: ENSMUSG00000042842
AA Change: L163P

DomainStartEndE-ValueType
SERPIN 13 208 1.22e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110293
AA Change: L163P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105922
Gene: ENSMUSG00000042842
AA Change: L163P

DomainStartEndE-ValueType
SERPIN 13 377 1.99e-174 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000164541
AA Change: L44P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222967
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c13 T A 13: 4,194,775 H117Q probably damaging Het
Arhgap44 T C 11: 65,053,118 N188S probably damaging Het
Bach1 T A 16: 87,722,505 I561N probably damaging Het
Bsph2 G T 7: 13,556,720 T78K probably damaging Het
Ccdc178 A G 18: 21,915,006 Y776H probably damaging Het
Ccdc7a T C 8: 129,026,591 probably benign Het
Cenpp C T 13: 49,464,776 V218M probably damaging Het
Dnmt3l A G 10: 78,063,248 S94G probably benign Het
Dock7 A T 4: 98,945,566 Y1839* probably null Het
Fam129c G T 8: 71,602,902 A319S possibly damaging Het
Gabra6 T A 11: 42,315,196 T278S probably damaging Het
Galnt11 G A 5: 25,247,720 D77N probably benign Het
Gm17175 T C 14: 51,570,822 D171G probably benign Het
Iqch T C 9: 63,500,917 N655S probably benign Het
Kdm1b T A 13: 47,080,548 I786N probably damaging Het
Macf1 G A 4: 123,493,163 Q976* probably null Het
Mbtd1 T A 11: 93,923,214 C228S probably benign Het
Myo10 T C 15: 25,776,329 L46P probably damaging Het
Nup133 A G 8: 123,915,324 V800A possibly damaging Het
Olfr191 G T 16: 59,086,322 H54N probably benign Het
Prkca C T 11: 108,057,834 G110R probably benign Het
Samd9l A T 6: 3,375,566 M565K probably damaging Het
Scgn T C 13: 23,959,679 Q77R probably benign Het
Tfrc T C 16: 32,628,585 V673A probably benign Het
Tsfm G A 10: 127,028,390 T152M probably benign Het
Wdfy3 A T 5: 101,900,031 C1803S probably benign Het
Other mutations in Serpinb6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Serpinb6b APN 13 32971546 missense probably benign 0.01
IGL01077:Serpinb6b APN 13 32978066 missense possibly damaging 0.68
IGL02981:Serpinb6b APN 13 32971606 missense probably benign 0.34
R0308:Serpinb6b UTSW 13 32978237 missense probably benign 0.09
R1568:Serpinb6b UTSW 13 32974912 missense probably damaging 1.00
R1692:Serpinb6b UTSW 13 32974995 missense probably damaging 1.00
R1763:Serpinb6b UTSW 13 32978058 missense probably damaging 1.00
R1917:Serpinb6b UTSW 13 32978240 missense probably benign
R1918:Serpinb6b UTSW 13 32978240 missense probably benign
R1919:Serpinb6b UTSW 13 32978240 missense probably benign
R1920:Serpinb6b UTSW 13 32975008 missense possibly damaging 0.47
R3032:Serpinb6b UTSW 13 32968568 missense possibly damaging 0.78
R4239:Serpinb6b UTSW 13 32972263 missense probably damaging 0.96
R5089:Serpinb6b UTSW 13 32978150 missense probably benign
R5503:Serpinb6b UTSW 13 32977659 missense possibly damaging 0.95
R5540:Serpinb6b UTSW 13 32977558 nonsense probably null
R6061:Serpinb6b UTSW 13 32977994 missense probably damaging 0.99
R6253:Serpinb6b UTSW 13 32972272 missense probably damaging 1.00
R7156:Serpinb6b UTSW 13 32971615 missense probably benign 0.09
R7248:Serpinb6b UTSW 13 32977576 missense probably benign 0.23
R7315:Serpinb6b UTSW 13 32972257 missense probably benign 0.41
R7424:Serpinb6b UTSW 13 32968667 missense probably damaging 0.99
R7547:Serpinb6b UTSW 13 32974924 missense probably benign 0.05
R7732:Serpinb6b UTSW 13 32968607 missense probably damaging 1.00
R7770:Serpinb6b UTSW 13 32977529 missense probably benign 0.05
R7802:Serpinb6b UTSW 13 32971596
R8814:Serpinb6b UTSW 13 32978304 missense possibly damaging 0.94
R8966:Serpinb6b UTSW 13 32978052 missense probably damaging 1.00
R8988:Serpinb6b UTSW 13 32978142 missense probably benign 0.45
R9037:Serpinb6b UTSW 13 32978015 nonsense probably null
R9129:Serpinb6b UTSW 13 32978156 small deletion probably benign
R9377:Serpinb6b UTSW 13 32968511 start codon destroyed probably null 1.00
R9415:Serpinb6b UTSW 13 32975019 missense
Posted On 2013-12-09