Incidental Mutation 'IGL03063:Serpinb10'
ID409562
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 #IGL03063
Quality Score
Status
Chromosome1
Chromosomal Location107529003-107549271 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 107542227 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 146 (K146N)
Ref Sequence ENSEMBL: ENSMUSP00000138771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000182198] [ENSMUST00000194951]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172762
Predicted Effect possibly damaging
Transcript: ENSMUST00000182198
AA Change: K146N

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138771
Gene: ENSMUSG00000092572
AA Change: K146N

DomainStartEndE-ValueType
SERPIN 1 320 6.18e-139 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000191955
AA Change: K146N

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141402
Gene: ENSMUSG00000102843
AA Change: K146N

DomainStartEndE-ValueType
SERPIN 1 320 6.18e-139 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194951
AA Change: K223N

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000141672
Gene: ENSMUSG00000092572
AA Change: K223N

DomainStartEndE-ValueType
SERPIN 13 396 1.31e-183 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 C T 7: 46,016,432 V255I probably benign Het
Arfgef2 T C 2: 166,859,782 probably benign Het
Bpifb2 A T 2: 153,889,124 Q205L probably damaging Het
Ccdc30 C T 4: 119,349,767 R386Q possibly damaging Het
Cdk5rap2 T A 4: 70,354,877 probably null Het
Comtd1 A G 14: 21,847,667 probably null Het
Dao T C 5: 114,021,015 C261R probably damaging Het
Dner A G 1: 84,585,338 V187A possibly damaging Het
Dsg3 T C 18: 20,533,368 probably benign Het
Eif3j2 A G 18: 43,477,379 L123P possibly damaging Het
Esf1 G A 2: 140,154,786 probably benign Het
Exo5 G A 4: 120,921,633 T345I possibly damaging Het
Fancl A T 11: 26,387,299 I29F probably damaging Het
Gadl1 C T 9: 115,966,267 H313Y probably damaging Het
Gm17190 G A 13: 96,082,762 probably benign Het
Gtf3c1 G T 7: 125,646,503 T1580N possibly damaging Het
Gtf3c6 T A 10: 40,251,159 I66L probably benign Het
Hhla1 A G 15: 65,941,790 I231T probably damaging Het
Hk2 A G 6: 82,739,649 Y273H probably damaging Het
Hk2 A G 6: 82,749,232 I83T probably benign Het
Ifit1 T C 19: 34,648,004 V180A possibly damaging Het
Igkv9-129 A T 6: 67,840,188 D92V probably damaging Het
Lrrc1 A G 9: 77,499,269 F36S probably damaging Het
Man1b1 A G 2: 25,334,404 E102G possibly damaging Het
Myh8 A G 11: 67,288,205 S475G probably benign Het
Olfr593 T A 7: 103,212,634 V247D probably damaging Het
Otud4 T A 8: 79,663,790 M343K probably benign Het
Peg10 A T 6: 4,756,647 probably benign Het
Plet1 T A 9: 50,504,422 N197K probably benign Het
Ppp1r12a C T 10: 108,261,254 R243C probably damaging Het
Sis A G 3: 72,928,297 F911L probably benign Het
Spon1 G A 7: 114,033,025 V528M possibly damaging Het
Tdrd9 T C 12: 112,044,299 V1100A probably benign Het
Tmtc3 T C 10: 100,447,606 M696V probably benign Het
Triobp A G 15: 78,990,884 E122G probably damaging Het
Wt1 G A 2: 105,170,023 probably null Het
Other mutations in Serpinb10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00767:Serpinb10 APN 1 107536077 missense possibly damaging 0.93
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
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
R7642:Serpinb10 UTSW 1 107529101 splice site probably null
R7782:Serpinb10 UTSW 1 107535466 utr 5 prime probably benign
R8300:Serpinb10 UTSW 1 107546726 missense probably benign 0.00
Posted On2016-08-02