Incidental Mutation 'IGL01942:Serpinb1b'
ID180895
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb1b
Ensembl Gene ENSMUSG00000051029
Gene Nameserine (or cysteine) peptidase inhibitor, clade B, member 1b
Synonymsovalbumin, EIB, 6330533H24Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #IGL01942
Quality Score
Status
Chromosome13
Chromosomal Location33078575-33094380 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 33085311 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 9 (T9I)
Ref Sequence ENSEMBL: ENSMUSP00000016951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016951] [ENSMUST00000222973]
Predicted Effect possibly damaging
Transcript: ENSMUST00000016951
AA Change: T9I

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000016951
Gene: ENSMUSG00000051029
AA Change: T9I

DomainStartEndE-ValueType
SERPIN 13 382 9e-182 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000222973
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 G A 7: 45,986,573 R1017W possibly damaging Het
Arhgef26 A G 3: 62,340,094 R200G probably benign Het
Arid4b A T 13: 14,136,164 probably benign Het
Atp1a2 A C 1: 172,286,309 S369A probably benign Het
Bag3 T A 7: 128,546,300 D546E probably benign Het
Bcl6b T A 11: 70,226,743 Y379F probably damaging Het
Cbln2 T C 18: 86,716,325 V136A probably benign Het
Ccnf A T 17: 24,242,320 D120E probably benign Het
Cd14 T A 18: 36,725,640 H254L possibly damaging Het
Chd3 A G 11: 69,350,105 probably null Het
Csf2rb G A 15: 78,340,492 R150H probably benign Het
Dhx35 T C 2: 158,831,864 L405P probably damaging Het
Dpf1 G A 7: 29,316,502 C383Y probably damaging Het
Dse T A 10: 34,155,993 Q345L probably benign Het
Gnaz A G 10: 75,014,874 M244V probably damaging Het
Gpr65 A T 12: 98,275,715 Y209F possibly damaging Het
Inpp5f T C 7: 128,667,769 I281T probably damaging Het
Kntc1 T C 5: 123,778,267 F721S probably damaging Het
Mapk8ip2 G A 15: 89,457,017 probably null Het
Med24 G A 11: 98,709,682 R646W probably damaging Het
Nup98 A T 7: 102,194,711 F102Y probably damaging Het
Olfr1260 G T 2: 89,977,978 V67L probably benign Het
Olfr150 A T 9: 39,737,666 M284L possibly damaging Het
Olfr354 A G 2: 36,907,857 M304V probably benign Het
Pgap3 T C 11: 98,397,954 Y125C probably damaging Het
Rasl12 T C 9: 65,408,362 V96A probably damaging Het
Rbm20 G A 19: 53,813,443 M127I probably damaging Het
Rnf114 T A 2: 167,512,626 probably null Het
Setd1b T A 5: 123,163,426 F16I possibly damaging Het
Slc25a28 A G 19: 43,664,508 F238S probably damaging Het
Slc2a2 T C 3: 28,705,803 V30A probably damaging Het
Slc35f4 T C 14: 49,525,505 probably benign Het
Socs4 T A 14: 47,290,650 C347* probably null Het
Spock1 C T 13: 57,430,328 E367K probably damaging Het
Ubap2 C T 4: 41,251,608 R8H probably benign Het
Vmn1r44 T A 6: 89,893,824 M41K probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp575 T C 7: 24,585,815 T134A possibly damaging Het
Other mutations in Serpinb1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Serpinb1b APN 13 33093867 missense probably damaging 1.00
IGL01348:Serpinb1b APN 13 33091415 missense probably benign 0.25
IGL01413:Serpinb1b APN 13 33093859 missense probably damaging 0.98
IGL02065:Serpinb1b APN 13 33091318 missense possibly damaging 0.66
IGL02707:Serpinb1b APN 13 33091665 missense probably benign 0.41
IGL03149:Serpinb1b APN 13 33085292 missense possibly damaging 0.90
R0087:Serpinb1b UTSW 13 33085319 missense probably benign 0.02
R0279:Serpinb1b UTSW 13 33093713 missense possibly damaging 0.81
R0448:Serpinb1b UTSW 13 33089692 missense probably benign 0.01
R1605:Serpinb1b UTSW 13 33093663 missense possibly damaging 0.82
R1628:Serpinb1b UTSW 13 33093654 missense probably benign 0.00
R1955:Serpinb1b UTSW 13 33085439 missense probably benign 0.08
R6124:Serpinb1b UTSW 13 33093813 missense probably benign 0.01
R6632:Serpinb1b UTSW 13 33087455 missense probably damaging 0.97
Posted On2014-05-07