Incidental Mutation 'IGL00767:Serpinb10'
ID26573
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb10
Ensembl Gene ENSMUSG00000092572
Gene Nameserine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 10
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00767
Quality Score
Status
Chromosome1
Chromosomal Location107529003-107549271 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 107536077 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 30 (V30F)
Ref Sequence ENSEMBL: ENSMUSP00000138771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000146597] [ENSMUST00000182198] [ENSMUST00000194951]
Predicted Effect probably benign
Transcript: ENSMUST00000143832
SMART Domains Protein: ENSMUSP00000114751
Gene: ENSMUSG00000062345

DomainStartEndE-ValueType
SERPIN 1 189 2.36e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172762
Predicted Effect possibly damaging
Transcript: ENSMUST00000173703
AA Change: V30F

PolyPhen 2 Score 0.800 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134188
Gene: ENSMUSG00000092572
AA Change: V30F

DomainStartEndE-ValueType
SERPIN 1 320 6.18e-139 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000182198
AA Change: V30F

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138771
Gene: ENSMUSG00000092572
AA Change: V30F

DomainStartEndE-ValueType
SERPIN 1 320 6.18e-139 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000191955
AA Change: V30F

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141402
Gene: ENSMUSG00000102843
AA Change: V30F

DomainStartEndE-ValueType
SERPIN 1 320 6.18e-139 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194951
AA Change: V107F

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000141672
Gene: ENSMUSG00000092572
AA Change: V107F

DomainStartEndE-ValueType
SERPIN 13 396 1.31e-183 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik T C 6: 149,334,750 probably benign Het
Anpep A C 7: 79,840,890 S293A probably benign Het
Dgkh T A 14: 78,587,261 probably benign Het
Dlg5 T A 14: 24,165,285 T657S probably damaging Het
Hpf1 A G 8: 60,896,802 I155V probably benign Het
Il12rb2 T C 6: 67,303,562 I554V possibly damaging Het
Mindy2 A G 9: 70,634,003 probably null Het
Nostrin A G 2: 69,175,775 T268A probably benign Het
Npy6r A G 18: 44,276,318 T269A probably benign Het
Nt5dc3 T A 10: 86,820,273 probably benign Het
Osgin2 G A 4: 16,006,377 H106Y probably damaging Het
Pdlim3 G A 8: 45,896,790 G46R probably damaging Het
Pdpk1 T G 17: 24,106,861 K147N possibly damaging Het
Pfkfb3 T C 2: 11,488,754 D137G probably damaging Het
Polg G A 7: 79,451,925 P1048S probably damaging Het
Ptcd3 A T 6: 71,903,448 I97K probably damaging Het
Stk17b A G 1: 53,764,023 probably benign Het
Tll1 G A 8: 64,071,321 R444C probably damaging Het
Ttbk2 A G 2: 120,745,745 V848A probably benign Het
Ttn T C 2: 76,885,673 probably benign Het
Other mutations in Serpinb10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:Serpinb10 APN 1 107540996 missense probably benign 0.02
IGL01287:Serpinb10 APN 1 107540882 critical splice acceptor site probably benign 0.00
IGL02496:Serpinb10 APN 1 107538425 unclassified probably null
IGL03063:Serpinb10 APN 1 107542227 missense possibly damaging 0.61
PIT4445001:Serpinb10 UTSW 1 107535998 missense probably benign 0.00
R0106:Serpinb10 UTSW 1 107546744 missense probably damaging 1.00
R0581:Serpinb10 UTSW 1 107546962 nonsense probably null
R1538:Serpinb10 UTSW 1 107540960 missense probably damaging 1.00
R1728:Serpinb10 UTSW 1 107538473 missense probably damaging 0.97
R1729:Serpinb10 UTSW 1 107538473 missense probably damaging 0.97
R1730:Serpinb10 UTSW 1 107538473 missense probably damaging 0.97
R1739:Serpinb10 UTSW 1 107538473 missense probably damaging 0.97
R1762:Serpinb10 UTSW 1 107538473 missense probably damaging 0.97
R1783:Serpinb10 UTSW 1 107538473 missense probably damaging 0.97
R1785:Serpinb10 UTSW 1 107538473 missense probably damaging 0.97
R3836:Serpinb10 UTSW 1 107536086 missense probably benign 0.01
R3949:Serpinb10 UTSW 1 107540906 missense probably damaging 1.00
R3972:Serpinb10 UTSW 1 107536122 missense probably damaging 1.00
R4237:Serpinb10 UTSW 1 107538449 missense probably benign 0.17
R4585:Serpinb10 UTSW 1 107547049 missense probably benign 0.01
R4883:Serpinb10 UTSW 1 107540951 missense probably damaging 1.00
R5061:Serpinb10 UTSW 1 107540971 missense probably benign 0.17
R5085:Serpinb10 UTSW 1 107542217 missense probably damaging 1.00
R5694:Serpinb10 UTSW 1 107535457 unclassified probably null
R6665:Serpinb10 UTSW 1 107546867 missense possibly damaging 0.94
R6783:Serpinb10 UTSW 1 107546867 missense possibly damaging 0.78
R7311:Serpinb10 UTSW 1 107546747 missense probably damaging 1.00
R7344:Serpinb10 UTSW 1 107540942 missense probably damaging 0.99
R7379:Serpinb10 UTSW 1 107532387 intron probably benign
R7455:Serpinb10 UTSW 1 107536102 missense probably damaging 1.00
Posted On2013-04-17