Incidental Mutation 'R1343:Serpinb9h'
ID 156441
Institutional Source Beutler Lab
Gene Symbol Serpinb9h
Ensembl Gene ENSMUSG00000071452
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 9h
Synonyms Gm11397
MMRRC Submission 039408-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R1343 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 33579656-33589128 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33588468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 351 (C351Y)
Ref Sequence ENSEMBL: ENSMUSP00000049819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050276]
AlphaFold F6V5V4
Predicted Effect possibly damaging
Transcript: ENSMUST00000050276
AA Change: C351Y

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000049819
Gene: ENSMUSG00000071452
AA Change: C351Y

DomainStartEndE-ValueType
SERPIN 13 377 1.3e-164 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankle2 T C 5: 110,385,832 (GRCm39) V361A probably damaging Het
Art1 A G 7: 101,756,160 (GRCm39) Y117C probably damaging Het
Cecr2 T C 6: 120,731,672 (GRCm39) Y215H probably damaging Het
Col6a3 T C 1: 90,696,069 (GRCm39) E2666G unknown Het
Cps1 T A 1: 67,248,768 (GRCm39) V1165E probably damaging Het
Gpr65 A T 12: 98,241,888 (GRCm39) K180N probably benign Het
Gsto2 A T 19: 47,873,146 (GRCm39) probably null Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Kif19a A G 11: 114,676,653 (GRCm39) D494G probably benign Het
Lnx1 T C 5: 74,758,040 (GRCm39) R695G probably damaging Het
Lonp1 A G 17: 56,927,272 (GRCm39) L327P probably damaging Het
Nat8 T C 6: 85,807,603 (GRCm39) T177A probably damaging Het
Nek1 T A 8: 61,481,709 (GRCm39) M208K probably damaging Het
Obsl1 G T 1: 75,469,223 (GRCm39) H1239Q probably damaging Het
Or52n2b A G 7: 104,565,834 (GRCm39) I223T probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Prmt3 C T 7: 49,467,856 (GRCm39) S354L probably benign Het
Ralgapa1 T A 12: 55,754,763 (GRCm39) H1176L probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Strc T C 2: 121,195,596 (GRCm39) S1618G probably benign Het
Syne2 T C 12: 76,080,417 (GRCm39) S4784P probably damaging Het
Usp14 T C 18: 10,016,623 (GRCm39) T73A probably benign Het
Vmn2r53 G A 7: 12,318,701 (GRCm39) P458L probably benign Het
Zfp292 T C 4: 34,805,238 (GRCm39) D2602G probably damaging Het
Other mutations in Serpinb9h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02206:Serpinb9h APN 13 33,588,182 (GRCm39) missense probably damaging 0.99
IGL02662:Serpinb9h APN 13 33,588,513 (GRCm39) missense possibly damaging 0.51
R0017:Serpinb9h UTSW 13 33,588,494 (GRCm39) missense probably damaging 0.99
R1757:Serpinb9h UTSW 13 33,583,336 (GRCm39) missense probably benign 0.00
R1886:Serpinb9h UTSW 13 33,588,203 (GRCm39) missense possibly damaging 0.56
R5559:Serpinb9h UTSW 13 33,588,301 (GRCm39) missense probably benign
R5681:Serpinb9h UTSW 13 33,579,812 (GRCm39) missense probably damaging 0.98
R6189:Serpinb9h UTSW 13 33,588,427 (GRCm39) missense probably benign
R7585:Serpinb9h UTSW 13 33,588,299 (GRCm39) missense probably benign 0.43
R7746:Serpinb9h UTSW 13 33,581,841 (GRCm39) missense probably damaging 0.98
R8786:Serpinb9h UTSW 13 33,588,204 (GRCm39) missense probably benign 0.17
R8787:Serpinb9h UTSW 13 33,588,204 (GRCm39) missense probably benign 0.17
R9032:Serpinb9h UTSW 13 33,581,781 (GRCm39) missense probably damaging 0.98
R9085:Serpinb9h UTSW 13 33,581,781 (GRCm39) missense probably damaging 0.98
Z1177:Serpinb9h UTSW 13 33,588,493 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- TGTCTTCGATGGAAGCAAGGCTG -3'
(R):5'- GTCATCTGACCTGGCAAAGGACAC -3'

Sequencing Primer
(F):5'- GGCTGACTTATCAGGAATGTCTAC -3'
(R):5'- ACGGTGAAAGTTCCTTCATCTTG -3'
Posted On 2014-02-11