Incidental Mutation 'R5495:Serpinb12'
ID 432267
Institutional Source Beutler Lab
Gene Symbol Serpinb12
Ensembl Gene ENSMUSG00000059956
Gene Name serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 12
Synonyms 4833409F13Rik, 2300003F07Rik
MMRRC Submission 043056-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5495 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 106862179-106884810 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106884151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 299 (L299P)
Ref Sequence ENSEMBL: ENSMUSP00000108344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081277] [ENSMUST00000112724]
AlphaFold Q9D7P9
Predicted Effect probably damaging
Transcript: ENSMUST00000081277
AA Change: L299P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080030
Gene: ENSMUSG00000059956
AA Change: L299P

DomainStartEndE-ValueType
SERPIN 13 423 5.88e-154 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112724
AA Change: L299P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108344
Gene: ENSMUSG00000059956
AA Change: L299P

DomainStartEndE-ValueType
SERPIN 13 423 5.88e-154 SMART
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 T C 7: 27,335,594 (GRCm39) probably null Het
Arhgap29 T G 3: 121,808,578 (GRCm39) M844R probably damaging Het
Atp1a1 T G 3: 101,498,741 (GRCm39) D184A probably benign Het
Bcl11a T A 11: 24,115,042 (GRCm39) V795E possibly damaging Het
Casp12 T A 9: 5,353,797 (GRCm39) I277N possibly damaging Het
Ccdc59 A G 10: 105,681,239 (GRCm39) K164E probably damaging Het
D630003M21Rik C T 2: 158,062,431 (GRCm39) G30S possibly damaging Het
Dgkd A G 1: 87,854,594 (GRCm39) D632G probably damaging Het
Efr3a A G 15: 65,687,258 (GRCm39) K56E possibly damaging Het
Egflam T A 15: 7,280,722 (GRCm39) R434S probably damaging Het
Fancl C G 11: 26,347,801 (GRCm39) A51G probably damaging Het
Fkbp7 T C 2: 76,493,638 (GRCm39) Y185C probably damaging Het
Galc A G 12: 98,197,673 (GRCm39) probably null Het
Galnt15 A G 14: 31,751,774 (GRCm39) S109G probably damaging Het
Gramd2b T C 18: 56,615,694 (GRCm39) I163T probably damaging Het
Impa1 A G 3: 10,391,230 (GRCm39) V80A probably benign Het
Itga10 T C 3: 96,554,687 (GRCm39) M56T possibly damaging Het
Larp1b G T 3: 40,990,257 (GRCm39) R135I probably damaging Het
Lgals12 C T 19: 7,581,495 (GRCm39) A71T probably damaging Het
Lmbr1 A T 5: 29,551,851 (GRCm39) L78* probably null Het
Lrat C A 3: 82,804,289 (GRCm39) M229I probably benign Het
Mug2 A T 6: 122,056,609 (GRCm39) M1185L probably damaging Het
Naprt T C 15: 75,765,696 (GRCm39) probably null Het
Nfat5 A G 8: 108,095,079 (GRCm39) I1107V probably benign Het
Nr4a2 T C 2: 57,002,387 (GRCm39) Y22C probably damaging Het
Ogfod1 C A 8: 94,790,906 (GRCm39) Q526K probably benign Het
Or2d4 C A 7: 106,543,699 (GRCm39) G170* probably null Het
Or3a10 G A 11: 73,935,611 (GRCm39) T163I probably damaging Het
Or4p21 T C 2: 88,276,401 (GRCm39) T294A probably benign Het
Or8g36 T C 9: 39,422,441 (GRCm39) T192A probably benign Het
Parp10 T G 15: 76,127,366 (GRCm39) I24L probably benign Het
Pcdha11 A G 18: 37,144,079 (GRCm39) T57A probably benign Het
Prdm8 A G 5: 98,333,165 (GRCm39) E244G possibly damaging Het
Prl6a1 T C 13: 27,496,654 (GRCm39) S3P possibly damaging Het
Rab11fip3 T A 17: 26,235,117 (GRCm39) T18S probably damaging Het
Rfc4 T C 16: 22,941,004 (GRCm39) probably benign Het
Rubcnl G T 14: 75,279,777 (GRCm39) V387F possibly damaging Het
S100a7l2 A T 3: 90,997,602 (GRCm39) L38M possibly damaging Het
Sptbn5 G A 2: 119,876,965 (GRCm39) probably benign Het
Taar4 A T 10: 23,837,181 (GRCm39) I264F possibly damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Thsd7b T A 1: 129,523,570 (GRCm39) H124Q probably damaging Het
Ugt1a6a A T 1: 88,066,746 (GRCm39) Q184L probably benign Het
Vnn1 T A 10: 23,774,462 (GRCm39) F168L probably damaging Het
Zan A G 5: 137,468,670 (GRCm39) L267P probably damaging Het
Zswim8 A G 14: 20,772,354 (GRCm39) S1621G probably damaging Het
Other mutations in Serpinb12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01859:Serpinb12 APN 1 106,881,564 (GRCm39) critical splice donor site probably null
IGL02578:Serpinb12 APN 1 106,883,220 (GRCm39) critical splice donor site probably null
R0380:Serpinb12 UTSW 1 106,878,551 (GRCm39) critical splice donor site probably null
R0525:Serpinb12 UTSW 1 106,874,432 (GRCm39) missense probably benign 0.00
R1720:Serpinb12 UTSW 1 106,874,344 (GRCm39) missense probably damaging 1.00
R4600:Serpinb12 UTSW 1 106,876,883 (GRCm39) missense probably benign 0.00
R4601:Serpinb12 UTSW 1 106,876,883 (GRCm39) missense probably benign 0.00
R4602:Serpinb12 UTSW 1 106,876,883 (GRCm39) missense probably benign 0.00
R4610:Serpinb12 UTSW 1 106,876,883 (GRCm39) missense probably benign 0.00
R4611:Serpinb12 UTSW 1 106,876,883 (GRCm39) missense probably benign 0.00
R4852:Serpinb12 UTSW 1 106,884,132 (GRCm39) missense probably benign 0.02
R5327:Serpinb12 UTSW 1 106,884,174 (GRCm39) missense probably damaging 0.99
R5601:Serpinb12 UTSW 1 106,881,427 (GRCm39) missense probably damaging 1.00
R5681:Serpinb12 UTSW 1 106,874,431 (GRCm39) missense probably benign 0.00
R6329:Serpinb12 UTSW 1 106,881,493 (GRCm39) missense probably damaging 1.00
R6723:Serpinb12 UTSW 1 106,876,888 (GRCm39) missense probably benign
R7514:Serpinb12 UTSW 1 106,878,534 (GRCm39) missense probably damaging 0.97
R7559:Serpinb12 UTSW 1 106,881,453 (GRCm39) missense probably damaging 0.97
R7751:Serpinb12 UTSW 1 106,877,401 (GRCm39) missense probably damaging 1.00
R7873:Serpinb12 UTSW 1 106,881,469 (GRCm39) missense probably damaging 1.00
R8371:Serpinb12 UTSW 1 106,884,135 (GRCm39) missense probably benign 0.30
R8465:Serpinb12 UTSW 1 106,884,342 (GRCm39) missense probably damaging 0.98
R9555:Serpinb12 UTSW 1 106,884,345 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTGAGATGCTGACTGTCCTG -3'
(R):5'- ATTGGGACTCTTAGAGATTCCAG -3'

Sequencing Primer
(F):5'- AGATGCTGACTGTCCTGTAATTTC -3'
(R):5'- CTTAGAGATTCCAGTAAGGTCAGCC -3'
Posted On 2016-10-05