Incidental Mutation 'IGL02665:Serpinb9g'
ID302692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb9g
Ensembl Gene ENSMUSG00000057726
Gene Nameserine (or cysteine) peptidase inhibitor, clade B, member 9g
Synonyms1600002F03Rik, NK21B, ovalbumin
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.342) question?
Stock #IGL02665
Quality Score
Status
Chromosome13
Chromosomal Location33484790-33496004 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 33495103 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 319 (C319R)
Ref Sequence ENSEMBL: ENSMUSP00000080597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081927]
Predicted Effect possibly damaging
Transcript: ENSMUST00000081927
AA Change: C319R

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080597
Gene: ENSMUSG00000057726
AA Change: C319R

DomainStartEndE-ValueType
SERPIN 13 377 2.87e-166 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cenpc1 T C 5: 86,046,403 N168S probably benign Het
Cep295 A G 9: 15,326,632 probably benign Het
Defb20 A G 2: 152,479,576 Y91C probably damaging Het
Dio2 T C 12: 90,729,653 D187G possibly damaging Het
Fat4 G A 3: 39,002,836 R4227Q probably benign Het
Fsip2 G A 2: 82,993,063 G6380D probably damaging Het
Gm5916 A T 9: 36,128,666 F9I possibly damaging Het
Havcr2 T A 11: 46,479,394 V216E probably benign Het
Hdac7 G A 15: 97,796,957 probably benign Het
Itgb8 T C 12: 119,166,865 probably benign Het
Kyat3 A G 3: 142,734,466 probably null Het
Lcn3 G A 2: 25,766,404 A99T possibly damaging Het
Lox T A 18: 52,525,244 probably benign Het
Lrrc7 A G 3: 158,161,105 S1000P probably damaging Het
Muc5ac T C 7: 141,791,086 F98S possibly damaging Het
Nsd1 T C 13: 55,296,183 Y1835H probably damaging Het
Pnpla3 A G 15: 84,171,205 D104G probably benign Het
Rab3ip T A 10: 116,937,548 Q120L probably benign Het
Ranbp6 T A 19: 29,812,901 Q17L possibly damaging Het
Ska3 T C 14: 57,822,072 K99E probably damaging Het
Srcap T A 7: 127,540,903 S1330R probably damaging Het
Vmn2r82 T A 10: 79,379,371 M396K probably damaging Het
Vmn2r87 T G 10: 130,497,180 D67A probably benign Het
Other mutations in Serpinb9g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01655:Serpinb9g APN 13 33495105 nonsense probably null
IGL02346:Serpinb9g APN 13 33486531 start codon destroyed probably benign 0.12
IGL02936:Serpinb9g APN 13 33494882 missense possibly damaging 0.94
R1611:Serpinb9g UTSW 13 33492874 missense possibly damaging 0.46
R3873:Serpinb9g UTSW 13 33486535 missense probably benign 0.45
R4060:Serpinb9g UTSW 13 33495106 missense probably benign 0.19
R4505:Serpinb9g UTSW 13 33486563 missense probably damaging 1.00
R6399:Serpinb9g UTSW 13 33492851 missense probably benign
R6843:Serpinb9g UTSW 13 33492917 missense probably damaging 1.00
R6844:Serpinb9g UTSW 13 33486633 missense probably damaging 0.99
R6942:Serpinb9g UTSW 13 33494905 missense probably benign 0.03
R7319:Serpinb9g UTSW 13 33488560 nonsense probably null
R7466:Serpinb9g UTSW 13 33495167 missense probably benign
R7470:Serpinb9g UTSW 13 33486634 missense probably damaging 1.00
Posted On2015-04-16