Incidental Mutation 'R0117:Serpina1c'
ID 20889
Institutional Source Beutler Lab
Gene Symbol Serpina1c
Ensembl Gene ENSMUSG00000079015
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 1C
Synonyms PI3, Spi1-3, PI6, Spi1-6
MMRRC Submission 038403-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R0117 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 103861185-103871146 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to G at 103861271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Cysteine at position 414 (*414C)
Ref Sequence ENSEMBL: ENSMUSP00000073695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074051]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000074051
AA Change: *414C
SMART Domains Protein: ENSMUSP00000073695
Gene: ENSMUSG00000079015
AA Change: *414C

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
SERPIN 53 410 5.23e-201 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130054
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.1%
Validation Efficiency 95% (59/62)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl4 A T 17: 33,999,776 (GRCm39) I141K probably damaging Het
Bbs10 T A 10: 111,135,194 (GRCm39) D102E possibly damaging Het
Btaf1 A G 19: 36,947,368 (GRCm39) T486A probably benign Het
Casp8ap2 A G 4: 32,640,817 (GRCm39) T624A probably benign Het
Cep192 T C 18: 67,983,808 (GRCm39) probably null Het
Cep76 T C 18: 67,759,744 (GRCm39) Y323C possibly damaging Het
CK137956 T A 4: 127,840,585 (GRCm39) T374S possibly damaging Het
Cyp2b23 A T 7: 26,372,539 (GRCm39) F359I probably benign Het
Cyp4f13 G T 17: 33,149,580 (GRCm39) H194Q probably damaging Het
Dach1 C T 14: 98,406,184 (GRCm39) G188R probably damaging Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Dscam T C 16: 96,474,878 (GRCm39) H1228R probably benign Het
Eps15 T A 4: 109,240,016 (GRCm39) D667E probably damaging Het
Fig4 G A 10: 41,106,037 (GRCm39) R716* probably null Het
Fmnl3 G C 15: 99,220,619 (GRCm39) probably benign Het
Gmpr T A 13: 45,670,560 (GRCm39) probably null Het
Gsta5 C T 9: 78,211,700 (GRCm39) T154I probably damaging Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Herc2 C A 7: 55,863,359 (GRCm39) probably benign Het
Htr2a G A 14: 74,882,533 (GRCm39) R173H probably damaging Het
Impg2 A G 16: 56,082,005 (GRCm39) N979S probably damaging Het
Kcna2 A G 3: 107,012,670 (GRCm39) Y417C probably damaging Het
Lmf1 G T 17: 25,874,965 (GRCm39) probably benign Het
Lmntd2 G A 7: 140,790,036 (GRCm39) R659C possibly damaging Het
Mcm9 A G 10: 53,413,832 (GRCm39) V416A possibly damaging Het
Mgarp G T 3: 51,304,133 (GRCm39) probably benign Het
Mpp3 G A 11: 101,891,399 (GRCm39) P580S probably damaging Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Ninl G A 2: 150,779,593 (GRCm39) R269W probably damaging Het
Or7e170 T C 9: 19,795,595 (GRCm39) E2G probably damaging Het
Or8g19 T A 9: 39,056,146 (GRCm39) I250N probably damaging Het
Or8h8 T A 2: 86,753,214 (GRCm39) I221F probably damaging Het
Pcnt A T 10: 76,244,561 (GRCm39) L1173* probably null Het
Pde6c A G 19: 38,139,979 (GRCm39) E314G probably damaging Het
Peds1 A G 2: 167,486,678 (GRCm39) probably benign Het
Phldb1 T C 9: 44,623,003 (GRCm39) M1V probably null Het
Pkdrej T A 15: 85,700,300 (GRCm39) probably null Het
Plch2 T A 4: 155,069,815 (GRCm39) probably benign Het
Pld2 G A 11: 70,448,214 (GRCm39) R887Q probably benign Het
Plxnb1 A G 9: 108,934,286 (GRCm39) D838G possibly damaging Het
Postn C T 3: 54,290,902 (GRCm39) probably benign Het
Prl8a8 T A 13: 27,692,473 (GRCm39) I172F probably damaging Het
Psmc4 A T 7: 27,742,165 (GRCm39) probably benign Het
Rabgap1 T A 2: 37,451,897 (GRCm39) probably null Het
Rapgef2 A G 3: 78,986,484 (GRCm39) S1017P probably benign Het
Rbak G T 5: 143,159,387 (GRCm39) Y555* probably null Het
Sntb1 A G 15: 55,769,749 (GRCm39) V80A probably benign Het
Sorl1 A G 9: 41,944,873 (GRCm39) V884A probably benign Het
Stmnd1 C A 13: 46,438,962 (GRCm39) Q65K possibly damaging Het
Tgm5 C T 2: 120,905,583 (GRCm39) probably null Het
Tubb1 T C 2: 174,299,577 (GRCm39) S420P probably benign Het
Tvp23b T C 11: 62,770,430 (GRCm39) probably benign Het
Xirp2 C T 2: 67,347,464 (GRCm39) A3235V possibly damaging Het
Zc3h15 T C 2: 83,488,427 (GRCm39) S122P possibly damaging Het
Other mutations in Serpina1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01905:Serpina1c APN 12 103,863,318 (GRCm39) missense possibly damaging 0.84
IGL02220:Serpina1c APN 12 103,862,338 (GRCm39) missense probably damaging 1.00
IGL02250:Serpina1c APN 12 103,863,487 (GRCm39) missense probably benign 0.42
R0077:Serpina1c UTSW 12 103,862,350 (GRCm39) missense probably benign 0.00
R1843:Serpina1c UTSW 12 103,861,282 (GRCm39) missense probably benign 0.28
R2196:Serpina1c UTSW 12 103,862,370 (GRCm39) missense probably damaging 0.99
R4261:Serpina1c UTSW 12 103,863,339 (GRCm39) missense probably benign 0.03
R4486:Serpina1c UTSW 12 103,863,259 (GRCm39) splice site probably null
R4572:Serpina1c UTSW 12 103,864,967 (GRCm39) intron probably benign
R4910:Serpina1c UTSW 12 103,861,291 (GRCm39) missense probably benign 0.05
R5036:Serpina1c UTSW 12 103,865,085 (GRCm39) missense probably damaging 0.99
R6209:Serpina1c UTSW 12 103,863,429 (GRCm39) missense probably damaging 1.00
R7533:Serpina1c UTSW 12 103,863,566 (GRCm39) missense probably damaging 1.00
R7618:Serpina1c UTSW 12 103,865,029 (GRCm39) missense probably damaging 1.00
R8424:Serpina1c UTSW 12 103,862,296 (GRCm39) missense possibly damaging 0.59
R8902:Serpina1c UTSW 12 103,865,117 (GRCm39) missense probably damaging 1.00
R9145:Serpina1c UTSW 12 103,862,400 (GRCm39) missense possibly damaging 0.61
R9173:Serpina1c UTSW 12 103,862,328 (GRCm39) missense possibly damaging 0.72
X0027:Serpina1c UTSW 12 103,863,331 (GRCm39) missense probably benign 0.00
X0064:Serpina1c UTSW 12 103,862,262 (GRCm39) critical splice donor site probably null
Z1176:Serpina1c UTSW 12 103,863,402 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- CAACCTATTTGCATGGCTGGAGGAG -3'
(R):5'- ATGGAAATCACCCTACCTGCAACTG -3'

Sequencing Primer
(F):5'- TCAAGACATACTATGATCTCAAGTCC -3'
(R):5'- TGCATAAGGCTGTGCTGACC -3'
Posted On 2013-04-11