Incidental Mutation 'IGL03272:Serpinb9f'
ID415291
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb9f
Ensembl Gene ENSMUSG00000038327
Gene Nameserine (or cysteine) peptidase inhibitor, clade B, member 9f
SynonymsNK21, ovalbumin, Spi13
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL03272
Quality Score
Status
Chromosome13
Chromosomal Location33324077-33335370 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 33327916 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 134 (N134I)
Ref Sequence ENSEMBL: ENSMUSP00000074958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075515]
Predicted Effect probably damaging
Transcript: ENSMUST00000075515
AA Change: N134I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074958
Gene: ENSMUSG00000038327
AA Change: N134I

DomainStartEndE-ValueType
SERPIN 13 377 2.03e-166 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530099J19Rik A T 13: 19,729,537 noncoding transcript Het
Acp2 C T 2: 91,204,233 probably benign Het
B4galnt3 T C 6: 120,216,306 D413G probably damaging Het
Chd2 T C 7: 73,453,166 D1357G possibly damaging Het
Dsg1b T C 18: 20,397,389 L367P probably benign Het
Emsy A T 7: 98,593,762 F1057I probably damaging Het
Fam171a2 A T 11: 102,444,118 F64L possibly damaging Het
Fat4 T C 3: 39,009,703 S4603P probably benign Het
Fyco1 T C 9: 123,829,603 T503A probably benign Het
Gpr179 T C 11: 97,336,593 T1579A possibly damaging Het
Itgae T C 11: 73,133,854 probably null Het
Lrriq3 A T 3: 155,101,058 I115F probably damaging Het
Mmrn1 A G 6: 60,988,435 D1149G probably damaging Het
Mylk A C 16: 34,979,189 K1650Q probably benign Het
Nrap T C 19: 56,345,568 probably benign Het
Olfr193 A C 16: 59,110,556 V18G probably benign Het
Ovgp1 T A 3: 105,981,325 D332E probably damaging Het
Pou2f1 A T 1: 165,896,480 I296K possibly damaging Het
Psd4 A G 2: 24,405,680 probably benign Het
Satb2 T C 1: 56,845,643 Q433R probably damaging Het
Slc6a3 A G 13: 73,540,929 N124S probably damaging Het
Spta1 A G 1: 174,214,144 N1360S probably benign Het
Strc G A 2: 121,371,751 T1212I probably damaging Het
Tmtc3 T C 10: 100,457,080 K472R probably benign Het
Other mutations in Serpinb9f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02113:Serpinb9f APN 13 33334468 missense probably damaging 1.00
R0112:Serpinb9f UTSW 13 33327951 splice site probably benign
R0254:Serpinb9f UTSW 13 33334591 missense probably damaging 1.00
R0498:Serpinb9f UTSW 13 33326007 splice site probably benign
R0711:Serpinb9f UTSW 13 33327921 missense probably damaging 1.00
R1004:Serpinb9f UTSW 13 33334242 critical splice acceptor site probably benign
R1913:Serpinb9f UTSW 13 33325846 missense probably damaging 1.00
R2214:Serpinb9f UTSW 13 33334609 missense probably benign 0.00
R3908:Serpinb9f UTSW 13 33327936 missense probably damaging 0.99
R6182:Serpinb9f UTSW 13 33334422 missense probably damaging 1.00
R6421:Serpinb9f UTSW 13 33334533 missense probably benign 0.01
R6965:Serpinb9f UTSW 13 33325876 missense possibly damaging 0.50
R7043:Serpinb9f UTSW 13 33325987 missense possibly damaging 0.85
R7406:Serpinb9f UTSW 13 33334560 nonsense probably null
R8182:Serpinb9f UTSW 13 33334620 missense probably benign 0.03
R8234:Serpinb9f UTSW 13 33325915 missense probably benign
R8341:Serpinb9f UTSW 13 33327307 nonsense probably null
X0019:Serpinb9f UTSW 13 33334534 missense possibly damaging 0.89
Posted On2016-08-02