Incidental Mutation 'IGL02065:Serpinb1b'
ID 185609
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb1b
Ensembl Gene ENSMUSG00000051029
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 1b
Synonyms EIB, ovalbumin, 6330533H24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL02065
Quality Score
Status
Chromosome 13
Chromosomal Location 33262558-33278363 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33275301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 142 (G142D)
Ref Sequence ENSEMBL: ENSMUSP00000016951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016951]
AlphaFold Q8VHP7
Predicted Effect possibly damaging
Transcript: ENSMUST00000016951
AA Change: G142D

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000016951
Gene: ENSMUSG00000051029
AA Change: G142D

DomainStartEndE-ValueType
SERPIN 13 382 9e-182 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C T 17: 46,623,827 (GRCm39) E770K possibly damaging Het
Abhd17a C A 10: 80,422,395 (GRCm39) A22S probably benign Het
Actbl2 A G 13: 111,392,225 (GRCm39) T187A probably benign Het
Adgrl3 G A 5: 81,660,064 (GRCm39) G278R probably damaging Het
Apoh C A 11: 108,305,131 (GRCm39) probably benign Het
Atp2b2 A G 6: 113,790,828 (GRCm39) F192S probably damaging Het
Bdh1 T C 16: 31,268,754 (GRCm39) I163T possibly damaging Het
Bmp1 G T 14: 70,723,660 (GRCm39) N725K probably damaging Het
Bmp1 T A 14: 70,727,547 (GRCm39) I679F probably damaging Het
Bmp2 T A 2: 133,402,844 (GRCm39) F132I probably benign Het
Bpifb5 T C 2: 154,069,103 (GRCm39) L140P probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Carmil3 T C 14: 55,731,279 (GRCm39) probably benign Het
Ccdc57 T C 11: 120,764,586 (GRCm39) T730A possibly damaging Het
Cdh10 G T 15: 19,013,342 (GRCm39) K647N probably damaging Het
Cdh17 A C 4: 11,771,373 (GRCm39) probably benign Het
Cep126 A G 9: 8,099,925 (GRCm39) S870P probably benign Het
Col6a4 T C 9: 105,954,302 (GRCm39) T346A probably damaging Het
Csmd3 A C 15: 47,530,024 (GRCm39) V2592G probably damaging Het
Dnajc16 A T 4: 141,504,244 (GRCm39) F239I probably damaging Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
F5 G A 1: 164,017,695 (GRCm39) V591M probably damaging Het
Fchsd2 T G 7: 100,826,429 (GRCm39) probably null Het
Flad1 A T 3: 89,316,294 (GRCm39) D89E probably damaging Het
Fsd1 C A 17: 56,303,499 (GRCm39) P457Q probably damaging Het
Gm21985 A G 2: 112,187,929 (GRCm39) D1012G possibly damaging Het
Gon4l A G 3: 88,764,517 (GRCm39) D366G probably null Het
Hadha A G 5: 30,347,843 (GRCm39) probably benign Het
Kdr A G 5: 76,122,513 (GRCm39) probably benign Het
Kyat3 A G 3: 142,426,136 (GRCm39) K24R probably benign Het
Map3k21 A G 8: 126,668,397 (GRCm39) D661G probably benign Het
Mical1 A T 10: 41,360,407 (GRCm39) K615N possibly damaging Het
Ncor1 T C 11: 62,310,435 (GRCm39) K204E possibly damaging Het
Nmral1 T A 16: 4,534,346 (GRCm39) I32F probably benign Het
Nrros T C 16: 31,963,492 (GRCm39) D175G possibly damaging Het
Or10ak8 G A 4: 118,773,968 (GRCm39) T232I probably benign Het
Or12j5 T C 7: 140,084,077 (GRCm39) I98M probably benign Het
Ryr2 A G 13: 11,587,143 (GRCm39) F4713L possibly damaging Het
Slc10a1 A G 12: 81,007,248 (GRCm39) S178P possibly damaging Het
Spint1 G A 2: 119,068,698 (GRCm39) R144H probably benign Het
Sult6b1 C T 17: 79,196,504 (GRCm39) G213R probably damaging Het
Themis3 G T 17: 66,862,900 (GRCm39) H353N probably benign Het
Tpr T C 1: 150,289,525 (GRCm39) S619P probably benign Het
Ttn A T 2: 76,645,134 (GRCm39) V11161E probably damaging Het
Usp13 G A 3: 32,987,314 (GRCm39) V837I probably damaging Het
Usp25 T C 16: 76,880,670 (GRCm39) V677A probably benign Het
Wdr62 A G 7: 29,942,894 (GRCm39) V1001A possibly damaging Het
Whrn A T 4: 63,336,822 (GRCm39) I580N possibly damaging Het
Wls T A 3: 159,616,993 (GRCm39) V344D probably damaging Het
Zan A T 5: 137,385,222 (GRCm39) Y5070* probably null Het
Other mutations in Serpinb1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Serpinb1b APN 13 33,277,850 (GRCm39) missense probably damaging 1.00
IGL01348:Serpinb1b APN 13 33,275,398 (GRCm39) missense probably benign 0.25
IGL01413:Serpinb1b APN 13 33,277,842 (GRCm39) missense probably damaging 0.98
IGL01942:Serpinb1b APN 13 33,269,294 (GRCm39) missense possibly damaging 0.69
IGL02707:Serpinb1b APN 13 33,275,648 (GRCm39) missense probably benign 0.41
IGL03149:Serpinb1b APN 13 33,269,275 (GRCm39) missense possibly damaging 0.90
R0087:Serpinb1b UTSW 13 33,269,302 (GRCm39) missense probably benign 0.02
R0279:Serpinb1b UTSW 13 33,277,696 (GRCm39) missense possibly damaging 0.81
R0448:Serpinb1b UTSW 13 33,273,675 (GRCm39) missense probably benign 0.01
R1605:Serpinb1b UTSW 13 33,277,646 (GRCm39) missense possibly damaging 0.82
R1628:Serpinb1b UTSW 13 33,277,637 (GRCm39) missense probably benign 0.00
R1955:Serpinb1b UTSW 13 33,269,422 (GRCm39) missense probably benign 0.08
R6124:Serpinb1b UTSW 13 33,277,796 (GRCm39) missense probably benign 0.01
R6632:Serpinb1b UTSW 13 33,271,438 (GRCm39) missense probably damaging 0.97
R7205:Serpinb1b UTSW 13 33,271,406 (GRCm39) missense probably benign 0.07
R7296:Serpinb1b UTSW 13 33,277,810 (GRCm39) missense probably benign 0.30
R7475:Serpinb1b UTSW 13 33,277,548 (GRCm39) missense probably benign 0.01
R7624:Serpinb1b UTSW 13 33,275,622 (GRCm39) splice site probably null
R7958:Serpinb1b UTSW 13 33,273,636 (GRCm39) missense possibly damaging 0.90
R8058:Serpinb1b UTSW 13 33,269,293 (GRCm39) missense probably benign 0.01
R8325:Serpinb1b UTSW 13 33,277,584 (GRCm39) missense probably benign
R8738:Serpinb1b UTSW 13 33,271,500 (GRCm39) missense probably damaging 1.00
R9001:Serpinb1b UTSW 13 33,277,743 (GRCm39) missense probably benign
R9184:Serpinb1b UTSW 13 33,269,393 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07