Incidental Mutation 'IGL02113:Serpinb9f'
ID280234
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: 0.199) question?
Stock #IGL02113
Quality Score
Status
Chromosome13
Chromosomal Location33324077-33335370 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 33334468 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 317 (H317L)
Ref Sequence ENSEMBL: ENSMUSP00000074958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075515]
Predicted Effect probably damaging
Transcript: ENSMUST00000075515
AA Change: H317L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074958
Gene: ENSMUSG00000038327
AA Change: H317L

DomainStartEndE-ValueType
SERPIN 13 377 2.03e-166 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 122,110,478 H726L possibly damaging Het
Aqr A T 2: 114,120,027 Y900* probably null Het
Atp11a G T 8: 12,865,048 R1155S probably benign Het
Bahd1 A G 2: 118,917,205 D435G probably benign Het
Brca2 A G 5: 150,540,979 T1403A possibly damaging Het
Cc2d2a T A 5: 43,685,248 probably null Het
Cog7 A G 7: 121,925,480 I697T probably damaging Het
Dclre1a A G 19: 56,541,532 V791A probably damaging Het
Dgki A G 6: 36,913,625 probably benign Het
Dpyd A G 3: 118,999,219 Y525C probably benign Het
Eepd1 T C 9: 25,482,713 L91P probably damaging Het
Foxf1 T A 8: 121,084,565 L56H probably damaging Het
Fry A T 5: 150,399,605 M1074L probably benign Het
Gbx1 T C 5: 24,504,876 T324A probably damaging Het
Gfpt1 T A 6: 87,087,367 N646K probably benign Het
Gm10258 C T 3: 30,268,393 probably benign Het
Gm12887 T C 4: 121,616,495 M53V probably benign Het
Hoxa11 C T 6: 52,245,317 G135S probably damaging Het
Mettl6 A T 14: 31,482,831 Y211* probably null Het
Moxd2 T C 6: 40,885,404 I160M probably benign Het
Mphosph10 G A 7: 64,376,807 probably benign Het
Mrpl19 T A 6: 81,965,915 M5L probably benign Het
Nbea A G 3: 55,992,492 V1412A probably benign Het
Nceh1 G T 3: 27,222,891 S121I probably damaging Het
Ntan1 A G 16: 13,835,144 T217A probably damaging Het
Ogfod1 C T 8: 94,064,213 A504V probably damaging Het
Olfr584 A T 7: 103,085,850 I111L possibly damaging Het
Pde3b G A 7: 114,526,906 V792M probably damaging Het
Pde9a A T 17: 31,459,970 M262L probably benign Het
Pi4ka A G 16: 17,373,415 V206A probably benign Het
Pkp1 A T 1: 135,883,914 N406K possibly damaging Het
Rcn3 A G 7: 45,083,338 I302T probably damaging Het
Rfx6 A G 10: 51,678,012 Q68R probably benign Het
Rpgrip1 A G 14: 52,133,844 D340G possibly damaging Het
Scn10a C T 9: 119,609,890 G1638S probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slc40a1 A G 1: 45,910,894 I466T probably benign Het
Smyd2 A T 1: 189,882,217 S371R probably damaging Het
Snap47 A C 11: 59,428,436 I292S probably damaging Het
Tbx4 A G 11: 85,912,264 E322G possibly damaging Het
Tg A G 15: 66,705,330 T1501A probably benign Het
Tmem259 A G 10: 79,978,709 V300A probably benign Het
Usp7 A G 16: 8,716,513 probably null Het
Vmn2r94 G T 17: 18,257,675 T158K probably damaging Het
Vmn2r95 G T 17: 18,439,907 A194S possibly damaging Het
Zfp944 A T 17: 22,339,066 I400N possibly damaging Het
Zmynd12 T A 4: 119,433,997 I53K probably damaging Het
Other mutations in Serpinb9f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03272:Serpinb9f APN 13 33327916 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
X0019:Serpinb9f UTSW 13 33334534 missense possibly damaging 0.89
Posted On2015-04-16