Incidental Mutation 'R4761:Serpinb6d'
ID 356899
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 042402-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R4761 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 33845388-33855564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 33855250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Tyrosine at position 308 (S308Y)
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: S308Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063025
Gene: ENSMUSG00000047889
AA Change: S308Y

DomainStartEndE-ValueType
SERPIN 13 375 1.67e-144 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000221681
AA Change: S308Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (69/69)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik A G 9: 101,820,165 (GRCm39) D195G possibly damaging Het
Abcc8 G A 7: 45,762,499 (GRCm39) R1221C probably damaging Het
Adra1a T A 14: 66,964,880 (GRCm39) probably null Het
Akr1c6 A T 13: 4,497,010 (GRCm39) M98L probably benign Het
Alpk3 A G 7: 80,753,916 (GRCm39) Q1632R probably damaging Het
Arhgap24 G T 5: 102,812,080 (GRCm39) probably benign Het
Atp8b5 A G 4: 43,308,504 (GRCm39) *40W probably null Het
Bdkrb2 A T 12: 105,554,537 (GRCm39) M17L probably benign Het
C4bp T C 1: 130,581,158 (GRCm39) K117R possibly damaging Het
Cacng3 A T 7: 122,367,887 (GRCm39) T256S probably benign Het
Cep63 T C 9: 102,464,240 (GRCm39) probably benign Het
Ces2b T A 8: 105,563,193 (GRCm39) probably null Het
Col12a1 T A 9: 79,564,592 (GRCm39) D1696V probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dcst1 A T 3: 89,264,860 (GRCm39) M296K possibly damaging Het
Ehbp1l1 G A 19: 5,769,875 (GRCm39) P476L possibly damaging Het
Enpp1 A G 10: 24,517,849 (GRCm39) V858A possibly damaging Het
Ermp1 T A 19: 29,623,656 (GRCm39) E55D probably benign Het
Eya1 G A 1: 14,373,045 (GRCm39) L25F probably damaging Het
Foxn2 T A 17: 88,770,136 (GRCm39) probably null Het
Gabrb3 A T 7: 57,415,250 (GRCm39) T107S probably damaging Het
Gm26678 A T 3: 54,540,564 (GRCm39) noncoding transcript Het
Gm7897 G T 1: 173,657,536 (GRCm39) noncoding transcript Het
Gm9789 A T 16: 88,954,915 (GRCm39) Y8F unknown Het
Gsta3 A T 1: 21,330,381 (GRCm39) T78S probably benign Het
H2-Ab1 A G 17: 34,486,474 (GRCm39) N178D probably damaging Het
Herc6 G A 6: 57,639,885 (GRCm39) V1000I probably benign Het
Hrnr A C 3: 93,230,062 (GRCm39) K100T probably damaging Het
Ift57 T C 16: 49,522,263 (GRCm39) F2L probably damaging Het
Iqca1l A G 5: 24,756,981 (GRCm39) V232A probably benign Het
Kmt2a C A 9: 44,760,421 (GRCm39) R509L probably damaging Het
Lefty1 T A 1: 180,765,190 (GRCm39) C253S probably benign Het
Lhx3 TCCTACGGGCCGGCCC TCC 2: 26,091,435 (GRCm39) probably null Het
Mfsd9 T C 1: 40,813,635 (GRCm39) K227E possibly damaging Het
Mrps2 C G 2: 28,359,946 (GRCm39) H268D probably benign Het
Mrps27 T A 13: 99,548,739 (GRCm39) S292T probably benign Het
Ncaph T C 2: 126,948,036 (GRCm39) D683G probably benign Het
Nlrc3 A T 16: 3,781,514 (GRCm39) S632T probably damaging Het
Nsun6 T C 2: 15,034,872 (GRCm39) T198A possibly damaging Het
Oasl2 C T 5: 115,037,836 (GRCm39) H78Y probably benign Het
Or8b54 T C 9: 38,687,133 (GRCm39) V194A probably benign Het
Pcsk5 T C 19: 17,814,512 (GRCm39) D2G possibly damaging Het
Pdgfrb C A 18: 61,212,772 (GRCm39) S892Y probably damaging Het
Phf8-ps A T 17: 33,286,172 (GRCm39) V210D probably damaging Het
Por T G 5: 135,754,784 (GRCm39) probably benign Het
Ppp2r5e A T 12: 75,640,035 (GRCm39) V22D possibly damaging Het
Prcp A G 7: 92,566,933 (GRCm39) probably null Het
Ptchd3 A T 11: 121,727,224 (GRCm39) N366I possibly damaging Het
Rprd1b A G 2: 157,889,890 (GRCm39) E4G probably damaging Het
Semp2l1 A T 1: 32,585,588 (GRCm39) S107R possibly damaging Het
Slc12a7 T C 13: 73,961,708 (GRCm39) V1026A probably benign Het
Slc17a7 G A 7: 44,820,408 (GRCm39) V313I probably benign Het
Slc35c1 T A 2: 92,289,168 (GRCm39) M113L probably damaging Het
Smgc A G 15: 91,729,717 (GRCm39) T178A possibly damaging Het
Spef2 A T 15: 9,653,040 (GRCm39) W914R probably damaging Het
Srfbp1 C A 18: 52,621,638 (GRCm39) P233Q probably damaging Het
Swt1 A C 1: 151,276,853 (GRCm39) C508G probably benign Het
Tex22 T C 12: 113,052,386 (GRCm39) V148A possibly damaging Het
Tle7 A T 8: 110,836,753 (GRCm39) D213V probably damaging Het
Tpd52 G A 3: 9,028,933 (GRCm39) P37L probably damaging Het
Utp25 T C 1: 192,796,230 (GRCm39) Y145C probably damaging Het
Vmn1r197 A T 13: 22,512,174 (GRCm39) M32L probably benign Het
Vmn2r100 T C 17: 19,741,630 (GRCm39) F114S possibly damaging Het
Xdh T A 17: 74,217,262 (GRCm39) I669F possibly damaging Het
Zfp940 G A 7: 29,545,578 (GRCm39) R110C probably benign 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
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'- TCATCTCCAGAATGCTGTGTATG -3'
(R):5'- AGGAGAACCTGCCAATGATC -3'

Sequencing Primer
(F):5'- CAGAACTGTCCTAAACTTTTGAACTC -3'
(R):5'- CCTGCCAATGATCATAAAATCTTCGG -3'
Posted On 2015-11-11