Incidental Mutation 'R1605:Serpinb1b'
ID 176425
Institutional Source Beutler Lab
Gene Symbol Serpinb1b
Ensembl Gene ENSMUSG00000051029
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 1b
Synonyms EIB, ovalbumin, 6330533H24Rik
MMRRC Submission 039642-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R1605 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 33262558-33278363 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 33277646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 293 (V293E)
Ref Sequence ENSEMBL: ENSMUSP00000016951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016951]
AlphaFold Q8VHP7
Predicted Effect possibly damaging
Transcript: ENSMUST00000016951
AA Change: V293E

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000016951
Gene: ENSMUSG00000051029
AA Change: V293E

DomainStartEndE-ValueType
SERPIN 13 382 9e-182 SMART
Meta Mutation Damage Score 0.8327 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 99% (75/76)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik A G 4: 126,506,104 (GRCm39) K211E probably damaging Het
Acot7 A G 4: 152,291,285 (GRCm39) I84V possibly damaging Het
Ankrd44 A G 1: 54,867,781 (GRCm39) V34A probably benign Het
Atp4b A T 8: 13,443,489 (GRCm39) M63K probably damaging Het
Atr T A 9: 95,818,516 (GRCm39) I2163K probably damaging Het
Azgp1 A T 5: 137,983,426 (GRCm39) R34* probably null Het
Ccdc152 T G 15: 3,327,603 (GRCm39) K58T probably damaging Het
Ccdc88b T A 19: 6,827,837 (GRCm39) Q912L probably benign Het
Cdc42ep5 T A 7: 4,154,395 (GRCm39) H131L probably benign Het
Chd7 G A 4: 8,844,675 (GRCm39) E1595K probably damaging Het
Col11a1 G A 3: 113,925,290 (GRCm39) G41D probably damaging Het
Cyp2b23 C T 7: 26,385,843 (GRCm39) V5I probably benign Het
D430041D05Rik A G 2: 104,085,915 (GRCm39) V22A possibly damaging Het
Ddi1 T C 9: 6,266,012 (GRCm39) Y119C probably benign Het
Dysf T C 6: 84,083,923 (GRCm39) L785P probably damaging Het
Eqtn T A 4: 94,816,587 (GRCm39) T69S possibly damaging Het
F11 T A 8: 45,694,617 (GRCm39) K581N probably damaging Het
Gli2 G A 1: 118,782,290 (GRCm39) P172S probably damaging Het
Gm7579 G T 7: 141,765,603 (GRCm39) C3F unknown Het
Grin2a A G 16: 9,481,194 (GRCm39) V501A possibly damaging Het
Grk4 G A 5: 34,831,901 (GRCm39) D57N probably damaging Het
Gsdma A T 11: 98,557,319 (GRCm39) D86V probably damaging Het
Gsx1 A G 5: 147,126,738 (GRCm39) E187G probably damaging Het
Hdac1-ps A G 17: 78,799,537 (GRCm39) D176G probably damaging Het
Inpp5k T A 11: 75,524,307 (GRCm39) F75L probably benign Het
Itpr1 T C 6: 108,326,620 (GRCm39) V114A possibly damaging Het
Izumo3 A T 4: 92,032,977 (GRCm39) C130S probably damaging Het
Mei4 G A 9: 81,809,639 (GRCm39) E241K possibly damaging Het
Mocs2 T C 13: 114,961,120 (GRCm39) V39A probably benign Het
Mroh2b G A 15: 4,974,572 (GRCm39) R1184H probably benign Het
Msh3 T C 13: 92,436,783 (GRCm39) Q509R probably null Het
Myh8 T C 11: 67,192,497 (GRCm39) W1459R probably damaging Het
Mypop T A 7: 18,734,918 (GRCm39) probably benign Het
Ndc1 C A 4: 107,225,293 (GRCm39) T3K probably damaging Het
Nf1 A C 11: 79,331,749 (GRCm39) M695L probably benign Het
Nup50l A G 6: 96,141,793 (GRCm39) M417T probably benign Het
Nutm2 C A 13: 50,623,955 (GRCm39) D217E possibly damaging Het
Or52a20 T C 7: 103,365,858 (GRCm39) I19T probably damaging Het
Or5b122 A G 19: 13,562,994 (GRCm39) T109A probably benign Het
Pde6c C A 19: 38,129,940 (GRCm39) D283E probably damaging Het
Phldb2 A G 16: 45,591,142 (GRCm39) probably benign Het
Pigt G C 2: 164,349,419 (GRCm39) R574P probably damaging Het
Pkd1 T C 17: 24,796,500 (GRCm39) I2354T possibly damaging Het
Prdm15 T C 16: 97,640,506 (GRCm39) E27G probably damaging Het
Ptpn14 A G 1: 189,597,709 (GRCm39) I1140V probably benign Het
Rdx T C 9: 51,974,891 (GRCm39) V9A probably damaging Het
Rfx7 T C 9: 72,519,071 (GRCm39) S258P probably damaging Het
Rnf17 G T 14: 56,730,822 (GRCm39) G1209C probably damaging Het
S1pr4 C T 10: 81,335,225 (GRCm39) probably null Het
Scml2 G T X: 160,014,442 (GRCm39) E566D possibly damaging Het
Serpinb9b T C 13: 33,222,112 (GRCm39) probably null Het
Sez6l A C 5: 112,622,915 (GRCm39) I212S probably damaging Het
Son T C 16: 91,454,552 (GRCm39) S1100P probably damaging Het
Spag9 G A 11: 93,939,365 (GRCm39) R98H probably damaging Het
Spata31e2 A T 1: 26,723,511 (GRCm39) H556Q possibly damaging Het
St3gal5 T C 6: 72,119,272 (GRCm39) L128P probably benign Het
Stra6 A T 9: 58,059,166 (GRCm39) M510L probably benign Het
Stxbp5l A G 16: 37,028,473 (GRCm39) V530A probably benign Het
Tatdn1 A G 15: 58,793,039 (GRCm39) probably benign Het
Tbc1d8 A G 1: 39,430,206 (GRCm39) S466P probably benign Het
Tmem199 A T 11: 78,399,152 (GRCm39) M175K possibly damaging Het
Trmt12 A G 15: 58,744,764 (GRCm39) E54G probably benign Het
Usp37 G T 1: 74,532,163 (GRCm39) Q77K possibly damaging Het
Vezf1 A G 11: 87,967,125 (GRCm39) I301V possibly damaging Het
Vmn1r34 T G 6: 66,613,932 (GRCm39) M269L probably benign Het
Wdr93 C A 7: 79,421,257 (GRCm39) probably null Het
Wnk2 T C 13: 49,214,370 (GRCm39) D644G probably damaging Het
Zc3h13 C T 14: 75,574,923 (GRCm39) R1591* probably null Het
Zfp131 G A 13: 120,230,316 (GRCm39) L371F probably damaging Het
Zfp180 T A 7: 23,804,049 (GRCm39) V156D probably benign Het
Zfp646 G T 7: 127,479,359 (GRCm39) probably null Het
Zscan12 C A 13: 21,550,813 (GRCm39) T144K probably benign Het
Other mutations in Serpinb1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Serpinb1b APN 13 33,277,850 (GRCm39) missense probably damaging 1.00
IGL01348:Serpinb1b APN 13 33,275,398 (GRCm39) missense probably benign 0.25
IGL01413:Serpinb1b APN 13 33,277,842 (GRCm39) missense probably damaging 0.98
IGL01942:Serpinb1b APN 13 33,269,294 (GRCm39) missense possibly damaging 0.69
IGL02065:Serpinb1b APN 13 33,275,301 (GRCm39) missense possibly damaging 0.66
IGL02707:Serpinb1b APN 13 33,275,648 (GRCm39) missense probably benign 0.41
IGL03149:Serpinb1b APN 13 33,269,275 (GRCm39) missense possibly damaging 0.90
R0087:Serpinb1b UTSW 13 33,269,302 (GRCm39) missense probably benign 0.02
R0279:Serpinb1b UTSW 13 33,277,696 (GRCm39) missense possibly damaging 0.81
R0448:Serpinb1b UTSW 13 33,273,675 (GRCm39) missense probably benign 0.01
R1628:Serpinb1b UTSW 13 33,277,637 (GRCm39) missense probably benign 0.00
R1955:Serpinb1b UTSW 13 33,269,422 (GRCm39) missense probably benign 0.08
R6124:Serpinb1b UTSW 13 33,277,796 (GRCm39) missense probably benign 0.01
R6632:Serpinb1b UTSW 13 33,271,438 (GRCm39) missense probably damaging 0.97
R7205:Serpinb1b UTSW 13 33,271,406 (GRCm39) missense probably benign 0.07
R7296:Serpinb1b UTSW 13 33,277,810 (GRCm39) missense probably benign 0.30
R7475:Serpinb1b UTSW 13 33,277,548 (GRCm39) missense probably benign 0.01
R7624:Serpinb1b UTSW 13 33,275,622 (GRCm39) splice site probably null
R7958:Serpinb1b UTSW 13 33,273,636 (GRCm39) missense possibly damaging 0.90
R8058:Serpinb1b UTSW 13 33,269,293 (GRCm39) missense probably benign 0.01
R8325:Serpinb1b UTSW 13 33,277,584 (GRCm39) missense probably benign
R8738:Serpinb1b UTSW 13 33,271,500 (GRCm39) missense probably damaging 1.00
R9001:Serpinb1b UTSW 13 33,277,743 (GRCm39) missense probably benign
R9184:Serpinb1b UTSW 13 33,269,393 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCACAGATGAATGGATGACAGACC -3'
(R):5'- GCAGAGCACCTGAATAATGCCTCC -3'

Sequencing Primer
(F):5'- TTGTACTTGGACCCTCAAAGAC -3'
(R):5'- ATAATGCCTCCTGTGGCAGC -3'
Posted On 2014-04-24