Incidental Mutation 'R5723:Serpina3m'
ID 452345
Institutional Source Beutler Lab
Gene Symbol Serpina3m
Ensembl Gene ENSMUSG00000079012
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 3M
Synonyms Spi2.4, MMSPi2.4, Spi2-rs1, MMCM7, contrapsin-like, alpha-1 antiproteinase, Spi-2l, antitrypsin, Spi-2rs1, 3e46
MMRRC Submission 043341-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R5723 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 104353424-104360518 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104360170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 414 (V414A)
Ref Sequence ENSEMBL: ENSMUSP00000130979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101078] [ENSMUST00000168797]
AlphaFold Q03734
Predicted Effect probably damaging
Transcript: ENSMUST00000101078
AA Change: V414A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098639
Gene: ENSMUSG00000079012
AA Change: V414A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SERPIN 56 417 3.12e-199 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168797
AA Change: V414A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130979
Gene: ENSMUSG00000079012
AA Change: V414A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SERPIN 56 417 3.12e-199 SMART
Meta Mutation Damage Score 0.9077 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,844,445 (GRCm39) D862G possibly damaging Het
Abcg2 C T 6: 58,655,336 (GRCm39) Q109* probably null Het
Acbd7 A G 2: 3,341,455 (GRCm39) Y33C probably damaging Het
Actl7a A G 4: 56,744,310 (GRCm39) D279G probably damaging Het
Akr1c18 A T 13: 4,194,328 (GRCm39) Y110* probably null Het
Akt1 T C 12: 112,623,704 (GRCm39) K276E probably damaging Het
Bcas2 A G 3: 103,084,608 (GRCm39) probably benign Het
C9 T A 15: 6,516,297 (GRCm39) Y367N probably damaging Het
Cd163 A G 6: 124,296,022 (GRCm39) T789A probably benign Het
Cers6 T A 2: 68,938,789 (GRCm39) S344T probably benign Het
Clcn4 A G 7: 7,294,681 (GRCm39) V329A probably damaging Het
Crisp3 A C 17: 40,546,804 (GRCm39) V38G probably damaging Het
Cyp2b23 A G 7: 26,380,821 (GRCm39) F135L probably benign Het
Cyrib A T 15: 63,828,447 (GRCm39) probably null Het
Ddr2 A T 1: 169,816,089 (GRCm39) C539* probably null Het
Efna5 T A 17: 62,914,458 (GRCm39) D189V probably damaging Het
Endov G T 11: 119,390,675 (GRCm39) V70F probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Frem3 A T 8: 81,340,026 (GRCm39) H773L probably benign Het
Gm43302 T A 5: 105,365,352 (GRCm39) Q552L possibly damaging Het
Gramd1a A T 7: 30,833,908 (GRCm39) W506R probably damaging Het
Hmcn1 C T 1: 150,570,600 (GRCm39) V2188I possibly damaging Het
Ifit1bl2 A G 19: 34,597,458 (GRCm39) F53L probably benign Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kif5a GGGTTGGT GGGT 10: 127,066,898 (GRCm39) probably null Het
Krt16 A G 11: 100,139,272 (GRCm39) Y149H probably damaging Het
Krtap5-2 A T 7: 141,728,742 (GRCm39) C313S unknown Het
Mreg A G 1: 72,201,527 (GRCm39) I155T probably damaging Het
Nans T C 4: 46,499,083 (GRCm39) F130S probably benign Het
Nox4 T C 7: 86,954,181 (GRCm39) probably benign Het
Or3a1d C A 11: 74,237,954 (GRCm39) W32L possibly damaging Het
Or52ad1 A T 7: 102,995,826 (GRCm39) M103K possibly damaging Het
Or56a3 C A 7: 104,740,309 (GRCm39) C179F probably damaging Het
Or5k15 A T 16: 58,709,976 (GRCm39) Y202* probably null Het
Pgap6 CGGGG CGGGGG 17: 26,339,536 (GRCm39) probably null Het
Pkd1 A G 17: 24,784,497 (GRCm39) T348A probably benign Het
Poteg T C 8: 27,940,020 (GRCm39) probably null Het
Prom1 T G 5: 44,172,236 (GRCm39) N585T probably benign Het
Rfc1 T C 5: 65,434,769 (GRCm39) S666G probably null Het
Rilp A G 11: 75,403,687 (GRCm39) probably benign Het
Serpina3i A G 12: 104,231,759 (GRCm39) E132G probably benign Het
Sfrp4 T C 13: 19,807,868 (GRCm39) F89S probably damaging Het
Stat5a A G 11: 100,772,900 (GRCm39) H692R probably benign Het
Tex29 A T 8: 11,904,279 (GRCm39) probably benign Het
Tmc5 T A 7: 118,271,416 (GRCm39) F910I probably damaging Het
Tusc3 G A 8: 39,538,651 (GRCm39) G230D possibly damaging Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Upb1 A T 10: 75,264,105 (GRCm39) I184F probably damaging Het
Vamp4 T C 1: 162,401,932 (GRCm39) F5L possibly damaging Het
Zfp583 C A 7: 6,326,674 (GRCm39) Q68H probably damaging Het
Zfp831 A C 2: 174,487,200 (GRCm39) H625P probably benign Het
Zfp941 G A 7: 140,392,763 (GRCm39) probably benign Het
Other mutations in Serpina3m
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4976:Serpina3m UTSW 12 104,324,882 (GRCm39) splice site probably null
R1797:Serpina3m UTSW 12 104,355,774 (GRCm39) missense probably damaging 1.00
R1929:Serpina3m UTSW 12 104,355,581 (GRCm39) missense probably damaging 0.97
R1991:Serpina3m UTSW 12 104,355,958 (GRCm39) nonsense probably null
R2032:Serpina3m UTSW 12 104,355,928 (GRCm39) missense probably benign 0.00
R2094:Serpina3m UTSW 12 104,355,529 (GRCm39) missense probably benign 0.35
R2103:Serpina3m UTSW 12 104,355,958 (GRCm39) nonsense probably null
R2121:Serpina3m UTSW 12 104,355,941 (GRCm39) missense possibly damaging 0.59
R2147:Serpina3m UTSW 12 104,355,483 (GRCm39) missense probably benign 0.01
R2241:Serpina3m UTSW 12 104,355,708 (GRCm39) missense probably benign 0.01
R2330:Serpina3m UTSW 12 104,357,963 (GRCm39) missense possibly damaging 0.61
R4057:Serpina3m UTSW 12 104,357,996 (GRCm39) splice site probably benign
R4275:Serpina3m UTSW 12 104,355,375 (GRCm39) missense probably damaging 0.99
R4466:Serpina3m UTSW 12 104,357,874 (GRCm39) missense probably damaging 1.00
R4901:Serpina3m UTSW 12 104,355,908 (GRCm39) nonsense probably null
R4924:Serpina3m UTSW 12 104,357,729 (GRCm39) missense probably benign 0.00
R4964:Serpina3m UTSW 12 104,355,360 (GRCm39) missense probably benign 0.43
R5836:Serpina3m UTSW 12 104,355,509 (GRCm39) missense probably damaging 1.00
R6172:Serpina3m UTSW 12 104,355,486 (GRCm39) missense probably damaging 1.00
R6619:Serpina3m UTSW 12 104,357,766 (GRCm39) missense probably benign 0.02
R6857:Serpina3m UTSW 12 104,355,585 (GRCm39) missense probably damaging 1.00
R6886:Serpina3m UTSW 12 104,355,386 (GRCm39) missense possibly damaging 0.94
R7063:Serpina3m UTSW 12 104,357,726 (GRCm39) missense probably benign 0.00
R7170:Serpina3m UTSW 12 104,355,777 (GRCm39) missense probably damaging 1.00
R7622:Serpina3m UTSW 12 104,355,834 (GRCm39) missense possibly damaging 0.82
R8222:Serpina3m UTSW 12 104,358,960 (GRCm39) missense possibly damaging 0.78
R8771:Serpina3m UTSW 12 104,357,841 (GRCm39) missense probably damaging 0.98
R8853:Serpina3m UTSW 12 104,355,914 (GRCm39) missense probably benign
R8913:Serpina3m UTSW 12 104,355,477 (GRCm39) missense probably benign 0.32
R9641:Serpina3m UTSW 12 104,360,085 (GRCm39) nonsense probably null
R9709:Serpina3m UTSW 12 104,359,008 (GRCm39) missense probably damaging 1.00
Z1177:Serpina3m UTSW 12 104,355,711 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- ACTCACTGCTTGCTCCAGAC -3'
(R):5'- TGGGAGCCACAGAGATAGTC -3'

Sequencing Primer
(F):5'- TCCTTACAGGTGGTCCACAAG -3'
(R):5'- AGTCAATGTCACTGTCTAAGCC -3'
Posted On 2017-01-03