Incidental Mutation 'IGL01300:Serpinb3b'
ID 75245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb3b
Ensembl Gene ENSMUSG00000073602
Gene Name serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3B
Synonyms Scca2-rs
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL01300
Quality Score
Status
Chromosome 1
Chromosomal Location 107081691-107088844 bp(-) (GRCm39)
Type of Mutation critical splice donor site
DNA Base Change (assembly) A to G at 107083573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086694] [ENSMUST00000166100]
AlphaFold Q9D1Q5
Predicted Effect probably benign
Transcript: ENSMUST00000086694
SMART Domains Protein: ENSMUSP00000083901
Gene: ENSMUSG00000073602

DomainStartEndE-ValueType
SERPIN 13 387 4.75e-181 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166100
SMART Domains Protein: ENSMUSP00000132370
Gene: ENSMUSG00000073602

DomainStartEndE-ValueType
SERPIN 13 387 4.75e-181 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa8 A G 14: 33,821,700 (GRCm39) D300G probably benign Het
Cacna1g T C 11: 94,324,738 (GRCm39) H1161R probably benign Het
Col14a1 G A 15: 55,331,372 (GRCm39) R1471Q unknown Het
Gm14496 A T 2: 181,642,753 (GRCm39) E808V probably damaging Het
Gm1968 T C 16: 29,781,038 (GRCm39) noncoding transcript Het
Gzmb G A 14: 56,497,653 (GRCm39) R196C probably benign Het
Hkdc1 A G 10: 62,231,040 (GRCm39) probably benign Het
Itgal T A 7: 126,913,290 (GRCm39) V629E probably damaging Het
Jak2 T A 19: 29,287,083 (GRCm39) Y1050N probably damaging Het
Lrrc69 C T 4: 14,773,663 (GRCm39) probably benign Het
Mmd T C 11: 90,140,537 (GRCm39) M1T probably null Het
Myh6 A G 14: 55,200,548 (GRCm39) V191A possibly damaging Het
Mynn A G 3: 30,667,755 (GRCm39) N485S probably damaging Het
Naa30 C T 14: 49,410,714 (GRCm39) T214M probably damaging Het
Ncoa3 A T 2: 165,910,381 (GRCm39) T1265S probably benign Het
Or10al2 C A 17: 37,983,778 (GRCm39) T288K probably damaging Het
Or1j10 T C 2: 36,267,054 (GRCm39) S89P probably benign Het
Prex1 A G 2: 166,480,327 (GRCm39) C138R possibly damaging Het
Prom2 A T 2: 127,377,009 (GRCm39) L535H probably benign Het
Pros1 T C 16: 62,734,174 (GRCm39) F327L possibly damaging Het
Ros1 A G 10: 51,977,809 (GRCm39) M1479T probably benign Het
Scn9a G A 2: 66,318,397 (GRCm39) Q1465* probably null Het
Sipa1l3 G A 7: 29,099,253 (GRCm39) Q339* probably null Het
Slc34a2 A C 5: 53,225,469 (GRCm39) probably null Het
Smc3 T A 19: 53,630,283 (GRCm39) probably benign Het
Tmem30a A G 9: 79,682,382 (GRCm39) probably null Het
Trappc11 A T 8: 47,954,903 (GRCm39) D878E probably benign Het
Trrap C T 5: 144,741,628 (GRCm39) T1325M probably damaging Het
Ttc12 A T 9: 49,359,222 (GRCm39) probably benign Het
Vmn1r237 T A 17: 21,534,337 (GRCm39) I20N probably damaging Het
Vmn2r115 T A 17: 23,578,755 (GRCm39) S743T probably damaging Het
Vmn2r74 A G 7: 85,606,414 (GRCm39) Y311H probably benign Het
Vnn3 T A 10: 23,740,263 (GRCm39) F189I possibly damaging Het
Other mutations in Serpinb3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Serpinb3b APN 1 107,085,411 (GRCm39) missense probably benign 0.20
IGL00543:Serpinb3b APN 1 107,085,396 (GRCm39) critical splice donor site probably null
IGL00846:Serpinb3b APN 1 107,083,579 (GRCm39) missense probably damaging 1.00
IGL00851:Serpinb3b APN 1 107,087,435 (GRCm39) missense probably damaging 1.00
IGL01017:Serpinb3b APN 1 107,082,187 (GRCm39) missense probably benign 0.31
IGL01083:Serpinb3b APN 1 107,085,473 (GRCm39) missense possibly damaging 0.57
IGL01306:Serpinb3b APN 1 107,082,395 (GRCm39) missense probably damaging 1.00
IGL01604:Serpinb3b APN 1 107,082,454 (GRCm39) missense probably benign 0.00
IGL01936:Serpinb3b APN 1 107,082,368 (GRCm39) missense probably benign 0.13
IGL02125:Serpinb3b APN 1 107,082,474 (GRCm39) missense probably damaging 1.00
IGL03185:Serpinb3b APN 1 107,084,662 (GRCm39) missense probably benign 0.01
ANU23:Serpinb3b UTSW 1 107,082,395 (GRCm39) missense probably damaging 1.00
R0329:Serpinb3b UTSW 1 107,087,433 (GRCm39) missense probably damaging 1.00
R0330:Serpinb3b UTSW 1 107,087,433 (GRCm39) missense probably damaging 1.00
R1465:Serpinb3b UTSW 1 107,083,573 (GRCm39) critical splice donor site probably null
R1465:Serpinb3b UTSW 1 107,083,573 (GRCm39) critical splice donor site probably null
R1635:Serpinb3b UTSW 1 107,082,403 (GRCm39) missense probably benign 0.16
R1713:Serpinb3b UTSW 1 107,083,164 (GRCm39) missense probably benign 0.00
R1898:Serpinb3b UTSW 1 107,082,317 (GRCm39) missense possibly damaging 0.85
R2252:Serpinb3b UTSW 1 107,083,208 (GRCm39) missense possibly damaging 0.71
R3430:Serpinb3b UTSW 1 107,082,425 (GRCm39) missense probably benign 0.21
R4382:Serpinb3b UTSW 1 107,083,273 (GRCm39) missense probably damaging 0.97
R4741:Serpinb3b UTSW 1 107,082,200 (GRCm39) missense probably benign 0.01
R4855:Serpinb3b UTSW 1 107,082,270 (GRCm39) missense possibly damaging 0.59
R4974:Serpinb3b UTSW 1 107,082,445 (GRCm39) missense probably benign 0.01
R4982:Serpinb3b UTSW 1 107,085,484 (GRCm39) missense probably benign 0.03
R5519:Serpinb3b UTSW 1 107,087,506 (GRCm39) start codon destroyed probably null 1.00
R6846:Serpinb3b UTSW 1 107,082,403 (GRCm39) missense probably benign 0.16
R7815:Serpinb3b UTSW 1 107,084,625 (GRCm39) missense probably damaging 1.00
R7860:Serpinb3b UTSW 1 107,085,467 (GRCm39) missense probably damaging 1.00
R9720:Serpinb3b UTSW 1 107,083,669 (GRCm39) missense probably benign
R9746:Serpinb3b UTSW 1 107,082,403 (GRCm39) missense possibly damaging 0.88
R9773:Serpinb3b UTSW 1 107,085,416 (GRCm39) missense possibly damaging 0.54
Z1088:Serpinb3b UTSW 1 107,085,481 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07