Incidental Mutation 'IGL02672:Serpinb6d'
ID 302946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb6d
Ensembl Gene ENSMUSG00000047889
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 6d
Synonyms SPI3D, Gm11390
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # IGL02672
Quality Score
Status
Chromosome 13
Chromosomal Location 33845388-33855564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33855372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 349 (H349Y)
Ref Sequence ENSEMBL: ENSMUSP00000152621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059637] [ENSMUST00000221681]
AlphaFold Q3UWK8
Predicted Effect probably benign
Transcript: ENSMUST00000059637
AA Change: H349Y

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000063025
Gene: ENSMUSG00000047889
AA Change: H349Y

DomainStartEndE-ValueType
SERPIN 13 375 1.67e-144 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000221681
AA Change: H349Y

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the large Serpin gene family. Many members of this family act as protease inhibitors, and have a conserved structure including a reactive center loop (RCL) that can act as a bait for protease targets. Unlike some members of this large gene family, the protein encoded by this gene is an intracellular protein, and lacks an N-terminal signal peptide sequence. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 13. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Alpi A G 1: 87,028,994 (GRCm39) L60P probably damaging Het
Arpc1a A C 5: 145,041,697 (GRCm39) I327L probably damaging Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Dcaf7 T C 11: 105,945,684 (GRCm39) probably benign Het
Dnah9 T G 11: 65,818,427 (GRCm39) I3304L probably benign Het
Dpp10 T A 1: 123,304,376 (GRCm39) H508L probably benign Het
Dync1i1 A G 6: 5,767,034 (GRCm39) D86G probably benign Het
Enpp7 T C 11: 118,883,166 (GRCm39) probably null Het
Fbxw9 C A 8: 85,792,682 (GRCm39) probably null Het
Foxred2 A G 15: 77,829,777 (GRCm39) probably null Het
Gas2l2 C T 11: 83,315,957 (GRCm39) R254H probably damaging Het
Gatad2b C T 3: 90,249,198 (GRCm39) L79F possibly damaging Het
Igf1r A T 7: 67,839,781 (GRCm39) D696V probably benign Het
Kcnk5 A G 14: 20,196,580 (GRCm39) I96T probably damaging Het
Lrrc8c C T 5: 105,755,224 (GRCm39) T333M possibly damaging Het
Mcm10 T C 2: 5,006,092 (GRCm39) T417A probably benign Het
Mesp2 T C 7: 79,461,145 (GRCm39) S157P probably benign Het
Naca A G 10: 127,876,152 (GRCm39) probably benign Het
Or5t17 A T 2: 86,832,417 (GRCm39) M35L probably benign Het
Osgepl1 A G 1: 53,359,270 (GRCm39) T260A probably benign Het
Otop1 T C 5: 38,435,170 (GRCm39) probably null Het
Pdk1 T C 2: 71,726,096 (GRCm39) S335P probably damaging Het
Phkb A G 8: 86,668,987 (GRCm39) N338S probably benign Het
Pogz G A 3: 94,763,410 (GRCm39) V61I probably benign Het
Ppp4r1 A G 17: 66,147,942 (GRCm39) Y928C probably damaging Het
Rab17 T C 1: 90,886,940 (GRCm39) E160G probably damaging Het
Rasgrp3 T A 17: 75,803,412 (GRCm39) F70Y probably benign Het
Rere T A 4: 150,594,483 (GRCm39) N364K unknown Het
Ryr1 A T 7: 28,703,944 (GRCm39) probably benign Het
Sae1 A G 7: 16,104,273 (GRCm39) V112A probably damaging Het
Slc12a1 T C 2: 125,012,596 (GRCm39) V286A probably damaging Het
Smad3 A T 9: 63,575,009 (GRCm39) probably null Het
Sox8 T A 17: 25,787,963 (GRCm39) D162V probably damaging Het
Sptbn1 A G 11: 30,087,239 (GRCm39) F1067L probably damaging Het
Tmprss3 T C 17: 31,409,981 (GRCm39) Y211C probably damaging Het
Top2b T C 14: 16,409,166 (GRCm38) probably benign Het
Tpp1 A T 7: 105,396,168 (GRCm39) H510Q probably benign Het
Ugcg T A 4: 59,218,587 (GRCm39) probably benign Het
Vmn2r96 T A 17: 18,818,376 (GRCm39) I651N probably benign Het
Wdr25 A T 12: 108,864,007 (GRCm39) K51* probably null Het
Other mutations in Serpinb6d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01482:Serpinb6d APN 13 33,855,346 (GRCm39) missense probably benign 0.05
IGL01611:Serpinb6d APN 13 33,850,375 (GRCm39) nonsense probably null
IGL01946:Serpinb6d APN 13 33,855,369 (GRCm39) missense probably benign 0.22
R0041:Serpinb6d UTSW 13 33,851,615 (GRCm39) missense probably damaging 0.98
R0041:Serpinb6d UTSW 13 33,851,615 (GRCm39) missense probably damaging 0.98
R1112:Serpinb6d UTSW 13 33,853,118 (GRCm39) missense probably damaging 1.00
R1159:Serpinb6d UTSW 13 33,855,212 (GRCm39) missense probably damaging 0.98
R1447:Serpinb6d UTSW 13 33,854,739 (GRCm39) missense probably benign 0.42
R1608:Serpinb6d UTSW 13 33,853,112 (GRCm39) missense probably benign
R1843:Serpinb6d UTSW 13 33,855,364 (GRCm39) missense probably benign
R1945:Serpinb6d UTSW 13 33,851,663 (GRCm39) missense possibly damaging 0.95
R2168:Serpinb6d UTSW 13 33,850,357 (GRCm39) missense probably benign 0.08
R2275:Serpinb6d UTSW 13 33,855,411 (GRCm39) missense probably benign 0.00
R3737:Serpinb6d UTSW 13 33,851,663 (GRCm39) missense probably damaging 1.00
R3738:Serpinb6d UTSW 13 33,851,663 (GRCm39) missense probably damaging 1.00
R3739:Serpinb6d UTSW 13 33,851,663 (GRCm39) missense probably damaging 1.00
R3780:Serpinb6d UTSW 13 33,848,097 (GRCm39) missense probably benign
R3782:Serpinb6d UTSW 13 33,848,097 (GRCm39) missense probably benign
R4002:Serpinb6d UTSW 13 33,854,630 (GRCm39) missense probably damaging 0.98
R4685:Serpinb6d UTSW 13 33,855,211 (GRCm39) missense probably damaging 1.00
R4707:Serpinb6d UTSW 13 33,855,336 (GRCm39) missense possibly damaging 0.83
R4761:Serpinb6d UTSW 13 33,855,250 (GRCm39) missense probably damaging 1.00
R4859:Serpinb6d UTSW 13 33,851,547 (GRCm39) splice site probably null
R4884:Serpinb6d UTSW 13 33,850,428 (GRCm39) missense possibly damaging 0.76
R4951:Serpinb6d UTSW 13 33,850,366 (GRCm39) missense probably benign 0.03
R5010:Serpinb6d UTSW 13 33,855,427 (GRCm39) missense probably benign 0.15
R5081:Serpinb6d UTSW 13 33,855,230 (GRCm39) missense probably benign 0.32
R6726:Serpinb6d UTSW 13 33,854,718 (GRCm39) missense probably benign 0.01
R6960:Serpinb6d UTSW 13 33,855,181 (GRCm39) missense probably benign 0.08
R7214:Serpinb6d UTSW 13 33,848,128 (GRCm39) missense probably damaging 1.00
R7732:Serpinb6d UTSW 13 33,853,082 (GRCm39) missense probably benign 0.14
R8128:Serpinb6d UTSW 13 33,850,383 (GRCm39) missense possibly damaging 0.46
R8197:Serpinb6d UTSW 13 33,851,588 (GRCm39) missense probably damaging 0.98
R8471:Serpinb6d UTSW 13 33,848,137 (GRCm39) missense probably damaging 0.99
R9026:Serpinb6d UTSW 13 33,851,656 (GRCm39) missense possibly damaging 0.51
R9080:Serpinb6d UTSW 13 33,855,107 (GRCm39) missense probably benign
R9253:Serpinb6d UTSW 13 33,855,205 (GRCm39) missense probably damaging 1.00
R9562:Serpinb6d UTSW 13 33,854,756 (GRCm39) missense probably benign 0.00
Z1088:Serpinb6d UTSW 13 33,855,237 (GRCm39) missense possibly damaging 0.79
Posted On 2015-04-16