Incidental Mutation 'R5081:Serpinb6d'
ID 387145
Institutional Source Beutler Lab
Gene Symbol Serpinb6d
Ensembl Gene ENSMUSG00000047889
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 6d
Synonyms SPI3D, Gm11390
MMRRC Submission 042670-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R5081 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 33845388-33855564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33855230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 301 (R301S)
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: R301S

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000063025
Gene: ENSMUSG00000047889
AA Change: R301S

DomainStartEndE-ValueType
SERPIN 13 375 1.67e-144 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000221681
AA Change: R301S

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 93% (65/70)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
AI593442 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 9: 52,589,114 (GRCm39) probably benign Het
Aig1 A G 10: 13,677,644 (GRCm39) I116T probably benign Het
Alox12 A T 11: 70,146,140 (GRCm39) probably null Het
Ap3s1 T A 18: 46,887,497 (GRCm39) D43E probably benign Het
Arhgap35 A G 7: 16,299,059 (GRCm39) M2T possibly damaging Het
Asah2 T A 19: 31,991,708 (GRCm39) E451V probably benign Het
Ash1l T G 3: 88,892,024 (GRCm39) I1301S probably damaging Het
Ass1 G A 2: 31,378,665 (GRCm39) probably null Het
Ccpg1 A G 9: 72,906,360 (GRCm39) T39A possibly damaging Het
Cd101 T A 3: 100,911,021 (GRCm39) Y879F possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh23 T C 10: 60,272,586 (GRCm39) T530A possibly damaging Het
Cep68 G T 11: 20,188,477 (GRCm39) Q643K probably damaging Het
Ces1c A G 8: 93,854,197 (GRCm39) S113P probably damaging Het
Cnga4 T C 7: 105,056,232 (GRCm39) I278T probably benign Het
Col1a1 A G 11: 94,842,402 (GRCm39) D1440G unknown Het
Cspp1 A G 1: 10,117,691 (GRCm39) I48V possibly damaging Het
Ctsj T A 13: 61,151,664 (GRCm39) S85C possibly damaging Het
Cyp39a1 C A 17: 44,057,488 (GRCm39) D442E probably damaging Het
Dock3 A T 9: 106,868,292 (GRCm39) F664Y probably damaging Het
Gpcpd1 A T 2: 132,389,622 (GRCm39) H244Q probably benign Het
Gtf3a T A 5: 146,888,092 (GRCm39) V131E probably benign Het
Gtpbp3 A T 8: 71,943,026 (GRCm39) R147W probably damaging Het
H2-Oa A T 17: 34,313,344 (GRCm39) I132F probably damaging Het
Hsd17b8 G A 17: 34,246,552 (GRCm39) probably benign Het
Idi1 T A 13: 8,937,963 (GRCm39) C91* probably null Het
Itga11 A G 9: 62,662,478 (GRCm39) I484V probably benign Het
Kpna3 C T 14: 61,628,694 (GRCm39) S101N probably damaging Het
Larp4 G A 15: 99,870,898 (GRCm39) probably benign Het
Mink1 T C 11: 70,495,970 (GRCm39) L390P probably damaging Het
Morc1 T G 16: 48,322,715 (GRCm39) S337R probably benign Het
Myo10 A G 15: 25,786,026 (GRCm39) R1236G probably damaging Het
Nkx3-1 T C 14: 69,429,396 (GRCm39) I138T possibly damaging Het
Nnt T C 13: 119,502,936 (GRCm39) N489S probably damaging Het
Nrcam A T 12: 44,617,136 (GRCm39) I711F probably benign Het
Ntrk3 A G 7: 78,227,522 (GRCm39) S4P probably damaging Het
Obsl1 T C 1: 75,464,607 (GRCm39) T1605A possibly damaging Het
Or1j17 A G 2: 36,578,655 (GRCm39) I214V possibly damaging Het
Or7g32 A G 9: 19,408,557 (GRCm39) E171G probably benign Het
Pank1 T C 19: 34,856,316 (GRCm39) H54R probably benign Het
Pgm2l1 A G 7: 99,917,472 (GRCm39) I530V probably benign Het
Psmd2 A G 16: 20,480,405 (GRCm39) T709A probably benign Het
Qsox1 G T 1: 155,688,581 (GRCm39) probably benign Het
Rbm14 A G 19: 4,852,823 (GRCm39) S520P probably benign Het
Rbm15b G A 9: 106,762,120 (GRCm39) R683C probably benign Het
Rhbdd2 T A 5: 135,664,876 (GRCm39) V69D probably damaging Het
Sart1 T C 19: 5,438,576 (GRCm39) E27G possibly damaging Het
Scn4a G A 11: 106,239,553 (GRCm39) P153L probably damaging Het
Sf3a2 C A 10: 80,640,275 (GRCm39) probably benign Het
Syne1 T C 10: 4,997,767 (GRCm39) D400G probably benign Het
Tenm2 T C 11: 35,915,460 (GRCm39) S2025G possibly damaging Het
Ttc16 A T 2: 32,657,988 (GRCm39) D476E probably damaging Het
Ttc9c A T 19: 8,793,396 (GRCm39) C81* probably null Het
Ulk2 G A 11: 61,694,488 (GRCm39) P474L probably damaging Het
Vmn1r66 A G 7: 10,008,722 (GRCm39) C104R probably damaging Het
Vwa2 C T 19: 56,897,752 (GRCm39) H686Y 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
IGL01946:Serpinb6d APN 13 33,855,369 (GRCm39) missense probably benign 0.22
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
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
Predicted Primers PCR Primer
(F):5'- ACAGTCATCTCCAGAATGCTG -3'
(R):5'- AGGAGAACCTGCCAATGATC -3'

Sequencing Primer
(F):5'- GTCATCTCCAGAATGCTGTGTATGAC -3'
(R):5'- CCTGCCAATGATCATAAAATCTTCGG -3'
Posted On 2016-06-06