Incidental Mutation 'R5495:Serpinb12'
ID432267
Institutional Source Beutler Lab
Gene Symbol Serpinb12
Ensembl Gene ENSMUSG00000059956
Gene Nameserine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 12
Synonyms
MMRRC Submission 043056-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5495 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location106934449-106957080 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106956421 bp
ZygosityHeterozygous
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]
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
9130204L05Rik A T 3: 91,090,295 L38M possibly damaging Het
Akt2 T C 7: 27,636,169 probably null Het
Arhgap29 T G 3: 122,014,929 M844R probably damaging Het
Atp1a1 T G 3: 101,591,425 D184A probably benign Het
Bcl11a T A 11: 24,165,042 V795E possibly damaging Het
Casp12 T A 9: 5,353,797 I277N possibly damaging Het
Ccdc59 A G 10: 105,845,378 K164E probably damaging Het
D630003M21Rik C T 2: 158,220,511 G30S possibly damaging Het
Dgkd A G 1: 87,926,872 D632G probably damaging Het
Efr3a A G 15: 65,815,409 K56E possibly damaging Het
Egflam T A 15: 7,251,241 R434S probably damaging Het
Fancl C G 11: 26,397,801 A51G probably damaging Het
Fkbp7 T C 2: 76,663,294 Y185C probably damaging Het
Galc A G 12: 98,231,414 probably null Het
Galnt15 A G 14: 32,029,817 S109G probably damaging Het
Gm13757 T C 2: 88,446,057 T294A probably benign Het
Gramd3 T C 18: 56,482,622 I163T probably damaging Het
Impa1 A G 3: 10,326,170 V80A probably benign Het
Itga10 T C 3: 96,647,371 M56T possibly damaging Het
Larp1b G T 3: 41,035,822 R135I probably damaging Het
Lgals12 C T 19: 7,604,130 A71T probably damaging Het
Lmbr1 A T 5: 29,346,853 L78* probably null Het
Lrat C A 3: 82,896,982 M229I probably benign Het
Mug2 A T 6: 122,079,650 M1185L probably damaging Het
Naprt T C 15: 75,893,847 probably null Het
Nfat5 A G 8: 107,368,447 I1107V probably benign Het
Nr4a2 T C 2: 57,112,375 Y22C probably damaging Het
Ogfod1 C A 8: 94,064,278 Q526K probably benign Het
Olfr139 G A 11: 74,044,785 T163I probably damaging Het
Olfr710 C A 7: 106,944,492 G170* probably null Het
Olfr957 T C 9: 39,511,145 T192A probably benign Het
Parp10 T G 15: 76,243,166 I24L probably benign Het
Pcdha11 A G 18: 37,011,026 T57A probably benign Het
Prdm8 A G 5: 98,185,306 E244G possibly damaging Het
Prl6a1 T C 13: 27,312,671 S3P possibly damaging Het
Rab11fip3 T A 17: 26,016,143 T18S probably damaging Het
Rfc4 T C 16: 23,122,254 probably benign Het
Rubcnl G T 14: 75,042,337 V387F possibly damaging Het
Sptbn5 G A 2: 120,046,484 probably benign Het
Taar4 A T 10: 23,961,283 I264F possibly damaging Het
Tdpoz4 A T 3: 93,797,499 T368S probably benign Het
Thsd7b T A 1: 129,595,833 H124Q probably damaging Het
Ugt1a6a A T 1: 88,139,024 Q184L probably benign Het
Vnn1 T A 10: 23,898,564 F168L probably damaging Het
Zan A G 5: 137,470,408 L267P probably damaging Het
Zswim8 A G 14: 20,722,286 S1621G probably damaging Het
Other mutations in Serpinb12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01859:Serpinb12 APN 1 106953834 critical splice donor site probably null
IGL02578:Serpinb12 APN 1 106955490 critical splice donor site probably null
R0380:Serpinb12 UTSW 1 106950821 critical splice donor site probably null
R0525:Serpinb12 UTSW 1 106946702 missense probably benign 0.00
R1720:Serpinb12 UTSW 1 106946614 missense probably damaging 1.00
R4600:Serpinb12 UTSW 1 106949153 missense probably benign 0.00
R4601:Serpinb12 UTSW 1 106949153 missense probably benign 0.00
R4602:Serpinb12 UTSW 1 106949153 missense probably benign 0.00
R4610:Serpinb12 UTSW 1 106949153 missense probably benign 0.00
R4611:Serpinb12 UTSW 1 106949153 missense probably benign 0.00
R4852:Serpinb12 UTSW 1 106956402 missense probably benign 0.02
R5327:Serpinb12 UTSW 1 106956444 missense probably damaging 0.99
R5601:Serpinb12 UTSW 1 106953697 missense probably damaging 1.00
R5681:Serpinb12 UTSW 1 106946701 missense probably benign 0.00
R6329:Serpinb12 UTSW 1 106953763 missense probably damaging 1.00
R6723:Serpinb12 UTSW 1 106949158 missense probably benign
R7514:Serpinb12 UTSW 1 106950804 missense probably damaging 0.97
R7559:Serpinb12 UTSW 1 106953723 missense probably damaging 0.97
R7751:Serpinb12 UTSW 1 106949671 missense probably damaging 1.00
R7873:Serpinb12 UTSW 1 106953739 missense probably damaging 1.00
R7956:Serpinb12 UTSW 1 106953739 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 On2016-10-05