Incidental Mutation 'R0041:Serpinb6d'
ID 64713
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 038335-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R0041 (G1)
Quality Score 99
Status Validated
Chromosome 13
Chromosomal Location 33845388-33855564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33851615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 124 (D124G)
Ref Sequence ENSEMBL: ENSMUSP00000152621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059637] [ENSMUST00000221681]
AlphaFold Q3UWK8
Predicted Effect probably damaging
Transcript: ENSMUST00000059637
AA Change: D124G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063025
Gene: ENSMUSG00000047889
AA Change: D124G

DomainStartEndE-ValueType
SERPIN 13 375 1.67e-144 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000221681
AA Change: D124G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.5171 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 97% (58/60)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A G 2: 26,873,986 (GRCm39) R412G probably damaging Het
Adamts3 T A 5: 89,832,326 (GRCm39) N927Y probably benign Het
Adgra3 A G 5: 50,117,901 (GRCm39) Y1216H probably benign Het
Agpat3 C A 10: 78,123,881 (GRCm39) probably benign Het
AI182371 T A 2: 34,975,733 (GRCm39) Q277L possibly damaging Het
Arhgef15 A T 11: 68,845,342 (GRCm39) L170Q possibly damaging Het
Avpi1 C A 19: 42,112,223 (GRCm39) E112* probably null Het
Braf C T 6: 39,617,413 (GRCm39) A534T probably damaging Het
Bspry G C 4: 62,404,791 (GRCm39) A196P probably damaging Het
Cacna1c T A 6: 118,570,988 (GRCm39) L2095F probably damaging Het
Cdhr2 A T 13: 54,874,651 (GRCm39) S908C probably damaging Het
Cntnap5c C A 17: 58,183,464 (GRCm39) Q57K probably benign Het
Dtna C T 18: 23,779,932 (GRCm39) probably benign Het
Dynap A G 18: 70,375,105 (GRCm39) S37P possibly damaging Het
Efna5 A T 17: 62,914,467 (GRCm39) probably benign Het
Fancm T A 12: 65,153,217 (GRCm39) C1224* probably null Het
Fbxw16 T A 9: 109,277,232 (GRCm39) S37C probably damaging Het
Galnt4 A G 10: 98,944,374 (GRCm39) Y33C probably benign Het
Kcnk2 G T 1: 189,027,888 (GRCm39) N122K probably benign Het
Krt71 C A 15: 101,647,753 (GRCm39) E222D probably damaging Het
Ltf T A 9: 110,858,636 (GRCm39) D461E possibly damaging Het
Mapk4 A T 18: 74,068,109 (GRCm39) L274Q probably damaging Het
Mbd6 A G 10: 127,122,741 (GRCm39) C103R probably damaging Het
Nbeal1 A G 1: 60,321,030 (GRCm39) N2047S probably benign Het
Nefh C T 11: 4,895,184 (GRCm39) S335N possibly damaging Het
Obscn G T 11: 58,934,803 (GRCm39) H4715N probably damaging Het
Olfml1 A T 7: 107,189,393 (GRCm39) I153L possibly damaging Het
Or6d13 G A 6: 116,518,295 (GRCm39) V294I possibly damaging Het
Or8g34 T A 9: 39,372,772 (GRCm39) F12Y probably benign Het
Pck1 A G 2: 172,997,003 (GRCm39) E215G probably benign Het
Peg12 T A 7: 62,113,308 (GRCm39) E263V unknown Het
Phkg1 T A 5: 129,903,103 (GRCm39) T15S probably benign Het
Plekhg1 T A 10: 3,914,076 (GRCm39) L1120* probably null Het
Prss59 A T 6: 40,903,042 (GRCm39) L110* probably null Het
Rlf T A 4: 121,007,126 (GRCm39) H618L probably damaging Het
Rnf112 T A 11: 61,343,181 (GRCm39) R165W probably damaging Het
Rnf213 A G 11: 119,293,401 (GRCm39) T51A probably benign Het
Rnf220 A G 4: 117,130,481 (GRCm39) L293P probably damaging Het
Rock1 T C 18: 10,140,240 (GRCm39) D117G probably damaging Het
Rp1 A G 1: 4,414,851 (GRCm39) V2087A probably benign Het
Rpl7a A G 2: 26,801,563 (GRCm39) probably null Het
Skor1 T G 9: 63,053,133 (GRCm39) T279P probably damaging Het
Son A T 16: 91,456,221 (GRCm39) E1656V probably damaging Het
Swap70 A G 7: 109,878,562 (GRCm39) K511E probably benign Het
Treh T C 9: 44,594,910 (GRCm39) V262A probably benign Het
Trpm4 A G 7: 44,954,370 (GRCm39) probably null Het
Ugt8a T C 3: 125,708,739 (GRCm39) I124V probably benign Het
Wdr53 T C 16: 32,075,473 (GRCm39) V226A probably damaging Het
Wdr64 G A 1: 175,554,037 (GRCm39) W189* 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
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
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
Predicted Primers PCR Primer
(F):5'- TGATACTGCATTTGACTGTGTTCCCAG -3'
(R):5'- GAAAACCAACTCTTGTGTGTTGTCCTG -3'

Sequencing Primer
(F):5'- GTGATTCTTATCCAAACCAGCATC -3'
(R):5'- ggtgtgtctcagaggctg -3'
Posted On 2013-08-06