Incidental Mutation 'R5464:Serpinb3c'
ID 433135
Institutional Source Beutler Lab
Gene Symbol Serpinb3c
Ensembl Gene ENSMUSG00000073601
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 3C
Synonyms ovalbumin, Serpinb4, 1110013A16Rik, 1110001H02Rik, Scca2
MMRRC Submission 042850-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R5464 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 107198931-107206101 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107199434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 362 (D362E)
Ref Sequence ENSEMBL: ENSMUSP00000027565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027565] [ENSMUST00000166100]
AlphaFold A2RSF9
Predicted Effect probably damaging
Transcript: ENSMUST00000027565
AA Change: D362E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027565
Gene: ENSMUSG00000073601
AA Change: D362E

DomainStartEndE-ValueType
SERPIN 13 386 7.91e-169 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166100
SMART Domains Protein: ENSMUSP00000132370
Gene: ENSMUSG00000073602

DomainStartEndE-ValueType
SERPIN 13 387 4.75e-181 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G A 16: 4,682,227 (GRCm39) G180E probably damaging Het
Acsl1 T A 8: 46,958,775 (GRCm39) D95E probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adamts16 T A 13: 70,909,868 (GRCm39) H895L probably benign Het
Alox12e T C 11: 70,208,505 (GRCm39) Y483C probably damaging Het
Atp13a2 T A 4: 140,733,381 (GRCm39) F952I probably damaging Het
Crot T G 5: 9,033,690 (GRCm39) probably null Het
Dnaja1 T A 4: 40,724,133 (GRCm39) M98K probably benign Het
Eps8 C T 6: 137,504,473 (GRCm39) G87R probably damaging Het
Flg2 C A 3: 93,109,277 (GRCm39) T435K possibly damaging Het
Gpatch4 T C 3: 87,962,062 (GRCm39) probably null Het
Heatr1 T A 13: 12,448,524 (GRCm39) M1795K probably benign Het
Ift52 T C 2: 162,871,735 (GRCm39) V189A probably benign Het
Kif21a T A 15: 90,878,058 (GRCm39) D250V probably damaging Het
Lrrc66 T C 5: 73,765,622 (GRCm39) T474A probably benign Het
Mcub T C 3: 129,709,365 (GRCm39) E316G probably benign Het
Mettl15 C T 2: 109,021,967 (GRCm39) V113I probably benign Het
Mroh8 T A 2: 157,063,150 (GRCm39) I824F probably damaging Het
Mrpl19 A G 6: 81,938,992 (GRCm39) M270T probably damaging Het
Naa12 C T 18: 80,255,138 (GRCm39) A144V probably damaging Het
Or10d4 A T 9: 39,581,066 (GRCm39) T238S probably damaging Het
Or4ac1-ps1 T C 2: 88,370,599 (GRCm39) Y58C probably null Het
Or51a25 A G 7: 102,373,124 (GRCm39) V191A possibly damaging Het
Or51a39 T C 7: 102,362,889 (GRCm39) T244A probably benign Het
Or51a43 C A 7: 103,717,674 (GRCm39) R188L possibly damaging Het
Or51f5 A G 7: 102,424,640 (GRCm39) K303R probably benign Het
Or52a24 T A 7: 103,381,396 (GRCm39) W88R probably damaging Het
Or5ak23 AAGTCTGGAGTC AAGTC 2: 85,245,057 (GRCm39) probably null Het
Or6x1 T C 9: 40,099,080 (GRCm39) I223T probably damaging Het
Pacs1 T C 19: 5,197,235 (GRCm39) M430V probably benign Het
Piezo2 A G 18: 63,278,176 (GRCm39) S243P probably damaging Het
Ppp1r36 A T 12: 76,474,852 (GRCm39) probably null Het
Prdm16 T A 4: 154,430,601 (GRCm39) probably null Het
Prss36 A T 7: 127,533,405 (GRCm39) W97R probably damaging Het
Psmg4 A T 13: 34,362,047 (GRCm39) I112F probably damaging Het
Ptpru C T 4: 131,499,868 (GRCm39) G1259R probably damaging Het
Rsph4a T C 10: 33,785,337 (GRCm39) I416T possibly damaging Het
Scn2a C T 2: 65,532,100 (GRCm39) R571C probably damaging Het
Selenbp1 A G 3: 94,851,727 (GRCm39) M423V probably benign Het
Serpina3i G A 12: 104,234,751 (GRCm39) A361T possibly damaging Het
Sf3a3 T C 4: 124,622,033 (GRCm39) probably null Het
Sgcg A G 14: 61,474,304 (GRCm39) V113A possibly damaging Het
Slc3a2 T C 19: 8,691,008 (GRCm39) K74R probably damaging Het
Smco1 T A 16: 32,092,694 (GRCm39) W122R probably damaging Het
Snx19 A G 9: 30,339,269 (GRCm39) K136E possibly damaging Het
Trim32 A G 4: 65,532,625 (GRCm39) N394S probably damaging Het
Uqcrb T C 13: 67,048,889 (GRCm39) D87G probably damaging Het
Wipf3 T C 6: 54,462,308 (GRCm39) S173P possibly damaging Het
Zfp473 T C 7: 44,382,062 (GRCm39) E756G probably damaging Het
Other mutations in Serpinb3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00847:Serpinb3c APN 1 107,203,990 (GRCm39) critical splice donor site probably null
IGL01349:Serpinb3c APN 1 107,200,513 (GRCm39) missense probably damaging 1.00
IGL01730:Serpinb3c APN 1 107,200,914 (GRCm39) missense probably damaging 0.99
IGL01732:Serpinb3c APN 1 107,199,702 (GRCm39) missense probably benign
IGL02184:Serpinb3c APN 1 107,199,648 (GRCm39) missense probably damaging 0.96
IGL02742:Serpinb3c APN 1 107,200,872 (GRCm39) nonsense probably null
IGL03131:Serpinb3c APN 1 107,199,457 (GRCm39) missense probably benign 0.09
IGL03394:Serpinb3c APN 1 107,199,603 (GRCm39) missense probably benign 0.00
BB001:Serpinb3c UTSW 1 107,200,904 (GRCm39) missense probably damaging 1.00
BB011:Serpinb3c UTSW 1 107,200,904 (GRCm39) missense probably damaging 1.00
R0207:Serpinb3c UTSW 1 107,204,722 (GRCm39) missense probably benign 0.02
R0508:Serpinb3c UTSW 1 107,204,651 (GRCm39) missense probably damaging 1.00
R1542:Serpinb3c UTSW 1 107,200,517 (GRCm39) missense probably damaging 1.00
R1660:Serpinb3c UTSW 1 107,199,432 (GRCm39) missense probably damaging 1.00
R1731:Serpinb3c UTSW 1 107,199,504 (GRCm39) missense probably damaging 0.99
R2012:Serpinb3c UTSW 1 107,199,574 (GRCm39) missense possibly damaging 0.92
R5361:Serpinb3c UTSW 1 107,204,661 (GRCm39) nonsense probably null
R5636:Serpinb3c UTSW 1 107,202,744 (GRCm39) missense possibly damaging 0.57
R5677:Serpinb3c UTSW 1 107,199,533 (GRCm39) missense probably damaging 1.00
R5965:Serpinb3c UTSW 1 107,204,653 (GRCm39) missense probably benign 0.01
R6424:Serpinb3c UTSW 1 107,199,359 (GRCm39) makesense probably null
R7132:Serpinb3c UTSW 1 107,204,681 (GRCm39) missense probably damaging 0.96
R7161:Serpinb3c UTSW 1 107,200,892 (GRCm39) missense probably null 1.00
R7319:Serpinb3c UTSW 1 107,200,817 (GRCm39) missense possibly damaging 0.92
R7437:Serpinb3c UTSW 1 107,199,444 (GRCm39) missense probably damaging 1.00
R7871:Serpinb3c UTSW 1 107,200,883 (GRCm39) missense possibly damaging 0.95
R7922:Serpinb3c UTSW 1 107,199,744 (GRCm39) missense probably damaging 1.00
R7924:Serpinb3c UTSW 1 107,200,904 (GRCm39) missense probably damaging 1.00
R8114:Serpinb3c UTSW 1 107,204,034 (GRCm39) missense probably benign 0.03
R8189:Serpinb3c UTSW 1 107,204,039 (GRCm39) missense probably benign 0.00
R8384:Serpinb3c UTSW 1 107,199,697 (GRCm39) missense probably benign 0.02
R9042:Serpinb3c UTSW 1 107,199,731 (GRCm39) missense probably damaging 1.00
R9518:Serpinb3c UTSW 1 107,200,468 (GRCm39) missense probably damaging 0.99
R9566:Serpinb3c UTSW 1 107,200,425 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGATAGAGCTATCCTGGCCC -3'
(R):5'- TGCCTTTGATCCACAGAAGG -3'

Sequencing Primer
(F):5'- GGCCCAACTAATGCATTCTTAG -3'
(R):5'- TTTGATCCACAGAAGGCTGAC -3'
Posted On 2016-10-06