Incidental Mutation 'IGL00846:Serpinb3b'
ID13977
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb3b
Ensembl Gene ENSMUSG00000073602
Gene Nameserine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3B
SynonymsScca2-rs
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL00846
Quality Score
Status
Chromosome1
Chromosomal Location107153940-107278361 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 107155849 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 200 (N200I)
Ref Sequence ENSEMBL: ENSMUSP00000132370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086694] [ENSMUST00000166100]
Predicted Effect probably damaging
Transcript: ENSMUST00000086694
AA Change: N200I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083901
Gene: ENSMUSG00000073602
AA Change: N200I

DomainStartEndE-ValueType
SERPIN 13 387 4.75e-181 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000166100
AA Change: N200I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132370
Gene: ENSMUSG00000073602
AA Change: N200I

DomainStartEndE-ValueType
SERPIN 13 387 4.75e-181 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn2l T C 7: 126,499,178 T181A probably damaging Het
Caskin1 T C 17: 24,499,349 probably null Het
Cass4 A C 2: 172,429,723 probably benign Het
Cdh26 A T 2: 178,481,624 Y672F possibly damaging Het
Cep290 T A 10: 100,540,333 probably benign Het
Cntnap2 T C 6: 47,193,038 L1146P probably benign Het
Cntnap5b T G 1: 100,164,223 C230G probably damaging Het
Ctnnd1 C T 2: 84,622,010 probably null Het
Cux1 A G 5: 136,326,796 I324T probably damaging Het
Dnajb4 T C 3: 152,193,481 N36S probably damaging Het
Fancc T A 13: 63,340,456 T237S possibly damaging Het
Fip1l1 A G 5: 74,587,065 probably benign Het
Hemgn G T 4: 46,396,171 T355K possibly damaging Het
Hivep1 T A 13: 42,167,616 L42* probably null Het
Hps3 A G 3: 20,025,792 W234R probably benign Het
Kit A T 5: 75,640,811 N586I probably damaging Het
Mettl14 T A 3: 123,371,363 K109N probably damaging Het
Mmab A T 5: 114,433,317 M166K probably benign Het
Naprt T A 15: 75,891,788 Y395F probably benign Het
Nostrin C T 2: 69,185,555 probably benign Het
Pgap1 G T 1: 54,492,021 probably benign Het
Plpp5 A T 8: 25,720,558 I59F probably damaging Het
Prrc2b T C 2: 32,199,097 probably benign Het
Scn4a A T 11: 106,328,118 V958D probably benign Het
Slc22a15 T A 3: 101,860,820 Q512L probably benign Het
Tmf1 A T 6: 97,173,316 Y477N possibly damaging Het
Trim10 T A 17: 36,871,692 L150H probably damaging Het
Ttc41 A G 10: 86,736,933 E723G possibly damaging Het
Usp25 A G 16: 77,062,405 S264G probably damaging Het
Vopp1 A G 6: 57,754,480 probably benign Het
Wapl G T 14: 34,692,744 probably benign Het
Wbp1 A G 6: 83,120,041 F93S probably damaging Het
Wt1 G T 2: 105,166,957 R413L probably damaging Het
Zfp345 C T 2: 150,472,618 G333D possibly damaging Het
Zmynd11 C A 13: 9,720,772 probably null Het
Other mutations in Serpinb3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Serpinb3b APN 1 107157681 missense probably benign 0.20
IGL00543:Serpinb3b APN 1 107157666 critical splice donor site probably null
IGL00851:Serpinb3b APN 1 107159705 missense probably damaging 1.00
IGL01017:Serpinb3b APN 1 107154457 missense probably benign 0.31
IGL01083:Serpinb3b APN 1 107157743 missense possibly damaging 0.57
IGL01300:Serpinb3b APN 1 107155843 critical splice donor site probably benign
IGL01306:Serpinb3b APN 1 107154665 missense probably damaging 1.00
IGL01604:Serpinb3b APN 1 107154724 missense probably benign 0.00
IGL01936:Serpinb3b APN 1 107154638 missense probably benign 0.13
IGL02125:Serpinb3b APN 1 107154744 missense probably damaging 1.00
IGL03185:Serpinb3b APN 1 107156932 missense probably benign 0.01
ANU23:Serpinb3b UTSW 1 107154665 missense probably damaging 1.00
R0329:Serpinb3b UTSW 1 107159703 missense probably damaging 1.00
R0330:Serpinb3b UTSW 1 107159703 missense probably damaging 1.00
R1465:Serpinb3b UTSW 1 107155843 critical splice donor site probably null
R1465:Serpinb3b UTSW 1 107155843 critical splice donor site probably null
R1635:Serpinb3b UTSW 1 107154673 missense probably benign 0.16
R1713:Serpinb3b UTSW 1 107155434 missense probably benign 0.00
R1898:Serpinb3b UTSW 1 107154587 missense possibly damaging 0.85
R2252:Serpinb3b UTSW 1 107155478 missense possibly damaging 0.71
R3430:Serpinb3b UTSW 1 107154695 missense probably benign 0.21
R4382:Serpinb3b UTSW 1 107155543 missense probably damaging 0.97
R4741:Serpinb3b UTSW 1 107154470 missense probably benign 0.01
R4855:Serpinb3b UTSW 1 107154540 missense possibly damaging 0.59
R4974:Serpinb3b UTSW 1 107154715 missense probably benign 0.01
R4982:Serpinb3b UTSW 1 107157754 missense probably benign 0.03
R5519:Serpinb3b UTSW 1 107159776 start codon destroyed probably null 1.00
R6846:Serpinb3b UTSW 1 107154673 missense probably benign 0.16
Z1088:Serpinb3b UTSW 1 107157751 missense probably damaging 1.00
Posted On2012-12-06