Incidental Mutation 'IGL00518:Serpinb9b'
ID 4321
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb9b
Ensembl Gene ENSMUSG00000021403
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 9b
Synonyms R86, ovalbumin, Spi10, 1600019A21Rik, SPI-CI
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00518
Quality Score
Status
Chromosome 13
Chromosomal Location 33211397-33224571 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 33223553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 248 (F248L)
Ref Sequence ENSEMBL: ENSMUSP00000006392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006392]
AlphaFold Q9DAV6
Predicted Effect probably benign
Transcript: ENSMUST00000006392
AA Change: F248L

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000006392
Gene: ENSMUSG00000021403
AA Change: F248L

DomainStartEndE-ValueType
SERPIN 13 377 7.86e-164 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220566
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 T C 1: 63,610,113 (GRCm39) V705A probably damaging Het
Cacna2d4 C T 6: 119,320,536 (GRCm39) L905F probably damaging Het
Copb2 A T 9: 98,464,947 (GRCm39) K627N possibly damaging Het
Dennd5b A G 6: 148,928,828 (GRCm39) C782R probably damaging Het
Diaph1 A G 18: 38,026,401 (GRCm39) probably null Het
Esyt1 C T 10: 128,357,743 (GRCm39) D243N probably benign Het
Hectd1 A G 12: 51,823,272 (GRCm39) probably benign Het
Klk1b4 T C 7: 43,860,456 (GRCm39) probably benign Het
Lce1i T A 3: 92,684,911 (GRCm39) R88S unknown Het
Lrrc37a G T 11: 103,391,177 (GRCm39) P1416Q probably benign Het
Mcm6 C A 1: 128,272,120 (GRCm39) A426S probably damaging Het
Mycbp2 C T 14: 103,393,244 (GRCm39) V3106I probably damaging Het
Nkiras1 T G 14: 18,278,435 (GRCm38) F50V probably benign Het
Pik3r6 A T 11: 68,425,077 (GRCm39) I457F probably damaging Het
Rbck1 T C 2: 152,160,315 (GRCm39) K455E probably damaging Het
Ryr2 T A 13: 11,848,978 (GRCm39) probably benign Het
Sox6 C A 7: 115,076,441 (GRCm39) M733I probably benign Het
Supt20 T C 3: 54,622,590 (GRCm39) S446P probably damaging Het
Tmem209 A G 6: 30,487,416 (GRCm39) M530T probably damaging Het
Top2a A T 11: 98,909,647 (GRCm39) Y150* probably null Het
Trmt9b C T 8: 36,979,453 (GRCm39) T352I possibly damaging Het
Ttn T A 2: 76,733,726 (GRCm39) probably benign Het
Ubr2 A G 17: 47,303,922 (GRCm39) Y138H probably damaging Het
Utrn A G 10: 12,542,587 (GRCm39) probably benign Het
Zfp354a T A 11: 50,961,381 (GRCm39) S531T probably damaging Het
Zscan4d T C 7: 10,896,281 (GRCm39) E363G probably benign Het
Other mutations in Serpinb9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Serpinb9b APN 13 33,219,608 (GRCm39) missense probably benign 0.00
IGL01939:Serpinb9b APN 13 33,223,648 (GRCm39) missense probably damaging 0.99
IGL02472:Serpinb9b APN 13 33,223,953 (GRCm39) utr 3 prime probably benign
IGL02632:Serpinb9b APN 13 33,223,806 (GRCm39) missense probably benign 0.01
R0255:Serpinb9b UTSW 13 33,222,003 (GRCm39) missense probably benign
R0667:Serpinb9b UTSW 13 33,216,909 (GRCm39) nonsense probably null
R0699:Serpinb9b UTSW 13 33,217,549 (GRCm39) missense probably benign 0.00
R0703:Serpinb9b UTSW 13 33,216,964 (GRCm39) missense probably benign 0.29
R1605:Serpinb9b UTSW 13 33,222,112 (GRCm39) critical splice donor site probably null
R1623:Serpinb9b UTSW 13 33,213,548 (GRCm39) missense possibly damaging 0.61
R1815:Serpinb9b UTSW 13 33,223,887 (GRCm39) missense probably damaging 1.00
R1920:Serpinb9b UTSW 13 33,223,531 (GRCm39) critical splice acceptor site probably null
R1987:Serpinb9b UTSW 13 33,213,542 (GRCm39) missense probably benign 0.07
R1988:Serpinb9b UTSW 13 33,213,542 (GRCm39) missense probably benign 0.07
R3035:Serpinb9b UTSW 13 33,213,529 (GRCm39) missense possibly damaging 0.81
R3683:Serpinb9b UTSW 13 33,213,581 (GRCm39) missense probably damaging 0.98
R3758:Serpinb9b UTSW 13 33,219,571 (GRCm39) missense probably damaging 1.00
R4677:Serpinb9b UTSW 13 33,223,806 (GRCm39) missense probably damaging 0.97
R5412:Serpinb9b UTSW 13 33,213,496 (GRCm39) missense probably benign 0.00
R5481:Serpinb9b UTSW 13 33,222,076 (GRCm39) missense possibly damaging 0.93
R5672:Serpinb9b UTSW 13 33,223,582 (GRCm39) missense probably benign 0.01
R5957:Serpinb9b UTSW 13 33,223,831 (GRCm39) missense possibly damaging 0.81
R6797:Serpinb9b UTSW 13 33,213,467 (GRCm39) missense possibly damaging 0.60
R7586:Serpinb9b UTSW 13 33,223,743 (GRCm39) missense probably damaging 1.00
R8115:Serpinb9b UTSW 13 33,219,531 (GRCm39) missense probably null 0.94
R8309:Serpinb9b UTSW 13 33,223,554 (GRCm39) missense probably damaging 1.00
R8529:Serpinb9b UTSW 13 33,223,543 (GRCm39) missense probably benign 0.04
R8802:Serpinb9b UTSW 13 33,213,587 (GRCm39) missense probably benign
R8810:Serpinb9b UTSW 13 33,213,452 (GRCm39) missense possibly damaging 0.83
R9020:Serpinb9b UTSW 13 33,223,887 (GRCm39) missense probably damaging 1.00
R9310:Serpinb9b UTSW 13 33,219,523 (GRCm39) missense probably benign
R9424:Serpinb9b UTSW 13 33,213,544 (GRCm39) missense probably damaging 0.99
X0019:Serpinb9b UTSW 13 33,219,514 (GRCm39) nonsense probably null
Posted On 2012-04-20