Incidental Mutation 'R5601:Serpinb12'
ID 439008
Institutional Source Beutler Lab
Gene Symbol Serpinb12
Ensembl Gene ENSMUSG00000059956
Gene Name serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 12
Synonyms
MMRRC Submission 043153-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R5601 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 106934449-106957080 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106953697 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 188 (I188T)
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: I188T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080030
Gene: ENSMUSG00000059956
AA Change: I188T

DomainStartEndE-ValueType
SERPIN 13 423 5.88e-154 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112724
AA Change: I188T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108344
Gene: ENSMUSG00000059956
AA Change: I188T

DomainStartEndE-ValueType
SERPIN 13 423 5.88e-154 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126812
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 G A 13: 91,782,910 V426I probably benign Het
Asmt T C X: 170,676,392 V212A probably damaging Het
Atn1 A G 6: 124,743,228 probably null Het
Auts2 G T 5: 131,476,823 probably benign Het
AW551984 C T 9: 39,591,267 V672M possibly damaging Het
Ccdc13 G A 9: 121,800,572 Q114* probably null Het
Ces2e A T 8: 104,929,494 I146F probably benign Het
Cfap44 A G 16: 44,460,186 K1443E probably damaging Het
Cma2 T A 14: 55,973,789 H179Q possibly damaging Het
Cpsf2 G T 12: 101,985,355 probably null Het
Cwh43 A G 5: 73,417,940 probably null Het
Dnajb12 GC G 10: 59,892,752 probably null Het
Dram1 A G 10: 88,324,767 S231P probably damaging Het
Fbxw7 A G 3: 84,976,208 D482G probably damaging Het
Fstl1 T C 16: 37,826,799 I177T probably benign Het
Fut9 T C 4: 25,620,299 T172A probably benign Het
Gm10436 T C 12: 88,176,047 D267G probably damaging Het
Gm5134 G A 10: 75,985,952 V207M probably damaging Het
Hccs G A X: 169,313,601 R203C probably damaging Het
Hmgxb3 A T 18: 61,137,622 F877I probably damaging Het
Ide A G 19: 37,314,980 V272A unknown Het
Impact C T 18: 12,976,007 T65I probably benign Het
Lgr6 C T 1: 134,994,010 A199T probably damaging Het
Muc3 A G 5: 137,138,015 S309P probably damaging Het
Myf6 A C 10: 107,494,614 S31A probably damaging Het
Olfr733 C A 14: 50,298,861 W149C probably damaging Het
Olfr881 C G 9: 37,992,714 T74R possibly damaging Het
P4hb T A 11: 120,571,615 E88D possibly damaging Het
Pcdhb9 T C 18: 37,402,206 C418R probably damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,893,123 probably null Het
Prss58 A T 6: 40,897,849 N19K possibly damaging Het
Ptprq C T 10: 107,608,430 A1438T probably benign Het
Rfx4 A T 10: 84,798,578 T61S probably damaging Het
Sclt1 T A 3: 41,730,919 N35Y probably benign Het
Sec24b CTG CTGGTG 3: 130,040,834 probably benign Het
Slc27a4 A T 2: 29,805,660 Y69F probably benign Het
Slc3a1 T C 17: 85,032,891 V247A probably benign Het
Slc4a2 C T 5: 24,438,774 T854I probably benign Het
Stat5b G A 11: 100,783,175 T761M probably damaging Het
Stkld1 T C 2: 26,952,705 L563P probably damaging Het
Tbc1d23 C A 16: 57,198,309 C283F probably benign Het
Tcaf3 T C 6: 42,587,528 N900S possibly damaging Het
Tkfc T C 19: 10,594,563 T370A probably benign Het
Tpr T C 1: 150,435,853 V1868A possibly damaging Het
Triobp T A 15: 78,973,633 W1145R probably damaging Het
Uhrf1bp1 C A 17: 27,884,494 A392D probably damaging Het
Vmn2r82 T G 10: 79,396,191 L675V probably damaging Het
Zfp423 T C 8: 87,782,009 E444G 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
R5495:Serpinb12 UTSW 1 106956421 missense probably damaging 0.98
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
R8371:Serpinb12 UTSW 1 106956405 missense probably benign 0.30
R8465:Serpinb12 UTSW 1 106956612 missense probably damaging 0.98
R9555:Serpinb12 UTSW 1 106956615 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATATTCACAGTGCTCTTGAGTGG -3'
(R):5'- TGGCTTGAGTCTCTAAACACCC -3'

Sequencing Primer
(F):5'- TGAGTGGGTCTTCCTCCACG -3'
(R):5'- TTCATTGAATCAGGAGCAGGCTACC -3'
Posted On 2016-10-26