Incidental Mutation 'IGL00791:Serpinb9c'
ID 13982
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb9c
Ensembl Gene ENSMUSG00000021404
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 9c
Synonyms 3830421J05Rik, Spi11, NK9, ovalbumin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00791
Quality Score
Status
Chromosome 13
Chromosomal Location 33333258-33343725 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33335867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 195 (V195E)
Ref Sequence ENSEMBL: ENSMUSP00000105913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021837] [ENSMUST00000110284] [ENSMUST00000135897]
AlphaFold I7HJI5
Predicted Effect probably damaging
Transcript: ENSMUST00000021837
AA Change: V223E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021837
Gene: ENSMUSG00000021404
AA Change: V223E

DomainStartEndE-ValueType
SERPIN 24 387 2.85e-152 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110284
AA Change: V195E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105913
Gene: ENSMUSG00000021404
AA Change: V195E

DomainStartEndE-ValueType
SERPIN 1 359 1.21e-146 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135897
SMART Domains Protein: ENSMUSP00000116267
Gene: ENSMUSG00000021404

DomainStartEndE-ValueType
Pfam:Serpin 1 88 7.2e-20 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap2 A T 12: 21,289,649 (GRCm39) M519L possibly damaging Het
Bbs7 T C 3: 36,629,436 (GRCm39) *674W probably null Het
Ceacam13 A G 7: 17,747,278 (GRCm39) T244A possibly damaging Het
Cln8 T A 8: 14,944,689 (GRCm39) M1K probably null Het
Cnot9 T C 1: 74,561,533 (GRCm39) V126A probably benign Het
Enpep T C 3: 129,125,731 (GRCm39) T134A possibly damaging Het
Fastkd5 C A 2: 130,458,297 (GRCm39) A98S probably benign Het
Gsdmc A T 15: 63,676,284 (GRCm39) I53N possibly damaging Het
Hexd A G 11: 121,111,986 (GRCm39) S427G probably benign Het
Lrrk2 T G 15: 91,664,044 (GRCm39) L1927R probably damaging Het
Mia2 A G 12: 59,155,085 (GRCm39) E267G possibly damaging Het
Plec A G 15: 76,057,137 (GRCm39) S4132P probably damaging Het
Rtn3 A G 19: 7,412,434 (GRCm39) L780P probably damaging Het
Slit2 T C 5: 48,461,374 (GRCm39) Y1474H possibly damaging Het
Taf15 A G 11: 83,379,749 (GRCm39) probably null Het
Tbc1d17 A G 7: 44,494,737 (GRCm39) S194P probably benign Het
Tbc1d2b T C 9: 90,109,481 (GRCm39) S332G probably benign Het
Tmpo A T 10: 90,998,420 (GRCm39) S456T possibly damaging Het
Tubgcp2 A G 7: 139,581,411 (GRCm39) L608P probably damaging Het
Zfp39 T A 11: 58,783,885 (GRCm39) probably benign Het
Zfp935 A C 13: 62,602,278 (GRCm39) N307K probably benign Het
Other mutations in Serpinb9c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01357:Serpinb9c APN 13 33,335,862 (GRCm39) missense probably benign 0.02
IGL01413:Serpinb9c APN 13 33,335,787 (GRCm39) missense probably damaging 0.99
R1411:Serpinb9c UTSW 13 33,335,817 (GRCm39) missense probably benign 0.02
R1926:Serpinb9c UTSW 13 33,334,218 (GRCm39) missense probably benign 0.00
R2057:Serpinb9c UTSW 13 33,340,854 (GRCm39) nonsense probably null
R2058:Serpinb9c UTSW 13 33,340,854 (GRCm39) nonsense probably null
R2059:Serpinb9c UTSW 13 33,340,854 (GRCm39) nonsense probably null
R2272:Serpinb9c UTSW 13 33,338,524 (GRCm39) missense probably damaging 1.00
R3948:Serpinb9c UTSW 13 33,334,077 (GRCm39) missense probably benign
R4520:Serpinb9c UTSW 13 33,335,840 (GRCm39) splice site probably null
R4558:Serpinb9c UTSW 13 33,338,482 (GRCm39) missense probably benign 0.12
R4735:Serpinb9c UTSW 13 33,334,254 (GRCm39) missense probably benign 0.13
R5004:Serpinb9c UTSW 13 33,334,338 (GRCm39) missense probably benign 0.00
R5009:Serpinb9c UTSW 13 33,338,414 (GRCm39) missense probably benign 0.18
R6345:Serpinb9c UTSW 13 33,333,978 (GRCm39) missense probably damaging 1.00
R6801:Serpinb9c UTSW 13 33,341,807 (GRCm39) start codon destroyed probably benign 0.00
R6886:Serpinb9c UTSW 13 33,334,310 (GRCm39) missense probably benign 0.04
R7082:Serpinb9c UTSW 13 33,338,390 (GRCm39) missense probably benign 0.40
R7288:Serpinb9c UTSW 13 33,335,883 (GRCm39) missense possibly damaging 0.66
R7988:Serpinb9c UTSW 13 33,334,262 (GRCm39) missense probably benign 0.04
R8309:Serpinb9c UTSW 13 33,334,094 (GRCm39) missense possibly damaging 0.70
R8465:Serpinb9c UTSW 13 33,334,016 (GRCm39) missense probably damaging 1.00
R8543:Serpinb9c UTSW 13 33,340,417 (GRCm39) missense probably damaging 1.00
R8750:Serpinb9c UTSW 13 33,335,793 (GRCm39) missense probably null 0.93
R9002:Serpinb9c UTSW 13 33,334,329 (GRCm39) missense probably damaging 0.99
R9412:Serpinb9c UTSW 13 33,334,231 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06