Incidental Mutation 'IGL01946:Serpinb6d'
ID 180944
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 # IGL01946
Quality Score
Status
Chromosome 13
Chromosomal Location 33845388-33855564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33855369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 348 (T348A)
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: T348A

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000063025
Gene: ENSMUSG00000047889
AA Change: T348A

DomainStartEndE-ValueType
SERPIN 13 375 1.67e-144 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000221681
AA Change: T348A

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,547,442 (GRCm39) E343K possibly damaging Het
Abcc9 T C 6: 142,571,763 (GRCm39) I1087V probably benign Het
Bcam A C 7: 19,494,042 (GRCm39) Y416* probably null Het
Bhlhe22 T A 3: 18,109,960 (GRCm39) C337S probably damaging Het
Cerkl T C 2: 79,223,364 (GRCm39) D119G probably benign Het
Cog6 T C 3: 52,909,825 (GRCm39) probably benign Het
Dchs1 T C 7: 105,408,312 (GRCm39) D1840G probably damaging Het
Dhx16 G T 17: 36,196,396 (GRCm39) M521I probably benign Het
Dnaja2 A G 8: 86,273,329 (GRCm39) I196T probably damaging Het
Fbxw7 T C 3: 84,811,369 (GRCm39) Y165H possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm3371 A G 14: 44,646,178 (GRCm39) Y96H probably damaging Het
H2-T10 G A 17: 36,431,608 (GRCm39) A82V possibly damaging Het
Hydin A G 8: 111,217,350 (GRCm39) T1413A possibly damaging Het
Krt23 T A 11: 99,383,665 (GRCm39) M76L possibly damaging Het
Lipe A T 7: 25,082,701 (GRCm39) M504K possibly damaging Het
Lrrc37 T A 11: 103,503,759 (GRCm39) R560S probably benign Het
Lta4h T A 10: 93,307,232 (GRCm39) probably benign Het
Ltbp2 T C 12: 84,877,522 (GRCm39) T348A probably damaging Het
Mybpc2 C A 7: 44,159,322 (GRCm39) probably benign Het
Or51r1 T C 7: 102,227,734 (GRCm39) probably null Het
Or52r1b T A 7: 102,691,357 (GRCm39) S219T probably damaging Het
Pdp2 G A 8: 105,320,824 (GRCm39) M224I probably benign Het
Pimreg C T 11: 71,935,804 (GRCm39) probably benign Het
Pld1 A T 3: 28,178,766 (GRCm39) S887C probably damaging Het
Ppp1r3g G A 13: 36,152,978 (GRCm39) A133T possibly damaging Het
Prpf8 G A 11: 75,390,818 (GRCm39) G1323D probably damaging Het
Rab3ip A G 10: 116,773,300 (GRCm39) probably null Het
Rpain A G 11: 70,861,358 (GRCm39) H9R possibly damaging Het
Scin T C 12: 40,110,490 (GRCm39) probably benign Het
Smad3 A G 9: 63,664,835 (GRCm39) L42P probably damaging Het
Smr3a C T 5: 88,156,014 (GRCm39) probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r13 G A 5: 109,322,085 (GRCm39) T204I probably benign Het
Zfhx3 A G 8: 109,660,561 (GRCm39) N1272D probably damaging 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
IGL02672:Serpinb6d APN 13 33,855,372 (GRCm39) missense probably benign 0.36
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 2014-05-07