Incidental Mutation 'R4619:Serpina3f'
ID 345195
Institutional Source Beutler Lab
Gene Symbol Serpina3f
Ensembl Gene ENSMUSG00000066363
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 3F
Synonyms 2A1, alpha-1 antiproteinasin, antitrypsin
MMRRC Submission 041885-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R4619 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 104180803-104187388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104183549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 137 (I137T)
Ref Sequence ENSEMBL: ENSMUSP00000113945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101080] [ENSMUST00000121337] [ENSMUST00000167049]
AlphaFold Q80X76
Predicted Effect possibly damaging
Transcript: ENSMUST00000101080
AA Change: I137T

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098641
Gene: ENSMUSG00000066363
AA Change: I137T

DomainStartEndE-ValueType
SERPIN 46 408 1.58e-186 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000121337
AA Change: I137T

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113945
Gene: ENSMUSG00000066363
AA Change: I137T

DomainStartEndE-ValueType
SERPIN 46 408 1.58e-186 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167049
AA Change: I137T

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126520
Gene: ENSMUSG00000066363
AA Change: I137T

DomainStartEndE-ValueType
SERPIN 46 408 1.58e-186 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (74/74)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 137,775,520 (GRCm39) V1570I probably damaging Het
Alx4 A G 2: 93,473,106 (GRCm39) R35G probably damaging Het
Apod T C 16: 31,116,211 (GRCm39) D173G probably benign Het
Atp8b3 G A 10: 80,361,858 (GRCm39) T731I possibly damaging Het
Birc6 A C 17: 74,947,145 (GRCm39) T2955P probably benign Het
Cdh15 G A 8: 123,587,612 (GRCm39) D179N probably damaging Het
Cntnap5c G T 17: 58,717,263 (GRCm39) V1282L probably benign Het
Crocc2 G A 1: 93,141,372 (GRCm39) R1175H probably benign Het
Dbh A G 2: 27,064,836 (GRCm39) D349G probably damaging Het
Dync1h1 A G 12: 110,605,278 (GRCm39) I2372V probably benign Het
Fer1l4 A T 2: 155,889,007 (GRCm39) W389R probably damaging Het
Fndc1 T C 17: 7,984,036 (GRCm39) T1297A unknown Het
Gart T C 16: 91,422,321 (GRCm39) N732S probably damaging Het
Gas2l2 T C 11: 83,313,924 (GRCm39) I463V probably benign Het
Gm5591 G A 7: 38,220,072 (GRCm39) S267L probably benign Het
Gzmk A G 13: 113,309,657 (GRCm39) V92A probably damaging Het
Hspg2 C T 4: 137,273,884 (GRCm39) R2680W probably damaging Het
Insyn2a A G 7: 134,520,270 (GRCm39) Y87H probably damaging Het
Kcnh3 G A 15: 99,131,982 (GRCm39) V646M probably damaging Het
Kcnk7 A C 19: 5,756,463 (GRCm39) I230L probably benign Het
Kif3b C T 2: 153,158,594 (GRCm39) R132* probably null Het
Klra5 T C 6: 129,885,776 (GRCm39) S128G probably benign Het
Krba1 C T 6: 48,383,282 (GRCm39) R4* probably null Het
Krt1c T A 15: 101,726,026 (GRCm39) I171F probably damaging Het
Lss A G 10: 76,372,089 (GRCm39) D148G probably benign Het
Mavs G T 2: 131,082,370 (GRCm39) A85S probably damaging Het
Mipep T C 14: 61,140,865 (GRCm39) C566R probably damaging Het
Myocd T A 11: 65,069,254 (GRCm39) probably benign Het
Ndufa9 C T 6: 126,804,498 (GRCm39) probably null Het
Nolc1 G A 19: 46,071,959 (GRCm39) G583D probably damaging Het
Nucb2 T C 7: 116,127,059 (GRCm39) probably null Het
Or1i2 T C 10: 78,448,409 (GRCm39) D22G probably benign Het
Or52e19 C T 7: 102,959,165 (GRCm39) T79I probably benign Het
Or5p63 A T 7: 107,811,301 (GRCm39) I145N possibly damaging Het
Pank4 C A 4: 155,061,076 (GRCm39) D508E probably benign Het
Phb1 T A 11: 95,562,416 (GRCm39) probably benign Het
Pign T A 1: 105,449,715 (GRCm39) probably benign Het
Plec T C 15: 76,076,382 (GRCm39) K349E probably benign Het
Ppp1r3c A T 19: 36,711,743 (GRCm39) V9E possibly damaging Het
Rap1gap T A 4: 137,443,422 (GRCm39) V130D probably damaging Het
Senp3 T A 11: 69,567,944 (GRCm39) Y432F probably benign Het
Slc46a3 T A 5: 147,823,540 (GRCm39) K101* probably null Het
Snph G A 2: 151,436,434 (GRCm39) Q96* probably null Het
Sptb A T 12: 76,630,581 (GRCm39) C2244* probably null Het
Srbd1 A T 17: 86,416,693 (GRCm39) F488L probably benign Het
Ssc5d A T 7: 4,932,524 (GRCm39) H396L probably damaging Het
Sulf1 A C 1: 12,856,876 (GRCm39) R42S probably damaging Het
Taf1a T A 1: 183,181,752 (GRCm39) probably benign Het
Thoc5 T A 11: 4,876,218 (GRCm39) M609K probably damaging Het
Tiam2 A T 17: 3,568,617 (GRCm39) I1588F probably damaging Het
Tmcc1 C T 6: 116,020,247 (GRCm39) V402I probably damaging Het
Tmprss15 T C 16: 78,818,358 (GRCm39) D524G probably damaging Het
Trbv31 T C 6: 41,534,901 (GRCm39) I21V probably benign Het
Vmn1r74 A T 7: 11,581,398 (GRCm39) T233S possibly damaging Het
Vmn1r74 G C 7: 11,581,403 (GRCm39) Q234H probably damaging Het
Vsx1 A T 2: 150,530,529 (GRCm39) S118T probably benign Het
Wnt9b G A 11: 103,621,949 (GRCm39) T236I probably benign Het
Zbtb21 T C 16: 97,751,092 (GRCm39) T1092A possibly damaging Het
Zc3hc1 G A 6: 30,387,523 (GRCm39) T52I probably benign Het
Zfp558 T A 9: 18,367,577 (GRCm39) N404Y possibly damaging Het
Zfp735 A T 11: 73,602,031 (GRCm39) D325V probably damaging Het
Zhx3 A T 2: 160,623,879 (GRCm39) M96K probably damaging Het
Other mutations in Serpina3f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00645:Serpina3f APN 12 104,183,599 (GRCm39) missense probably benign 0.44
IGL01375:Serpina3f APN 12 104,186,735 (GRCm39) missense unknown
IGL01575:Serpina3f APN 12 104,184,699 (GRCm39) missense probably damaging 1.00
IGL01712:Serpina3f APN 12 104,184,657 (GRCm39) missense probably damaging 1.00
IGL02001:Serpina3f APN 12 104,185,725 (GRCm39) missense probably damaging 1.00
IGL02882:Serpina3f APN 12 104,183,263 (GRCm39) missense probably damaging 1.00
IGL03145:Serpina3f APN 12 104,183,716 (GRCm39) missense probably benign 0.06
R0158:Serpina3f UTSW 12 104,183,267 (GRCm39) missense probably damaging 1.00
R0739:Serpina3f UTSW 12 104,184,612 (GRCm39) missense probably damaging 1.00
R1667:Serpina3f UTSW 12 104,183,699 (GRCm39) missense probably damaging 1.00
R1800:Serpina3f UTSW 12 104,183,665 (GRCm39) missense probably damaging 1.00
R2010:Serpina3f UTSW 12 104,183,582 (GRCm39) missense probably damaging 1.00
R2356:Serpina3f UTSW 12 104,183,626 (GRCm39) nonsense probably null
R3926:Serpina3f UTSW 12 104,185,740 (GRCm39) missense possibly damaging 0.58
R3959:Serpina3f UTSW 12 104,183,399 (GRCm39) missense probably damaging 1.00
R4765:Serpina3f UTSW 12 104,185,690 (GRCm39) missense probably benign 0.03
R4977:Serpina3f UTSW 12 104,183,314 (GRCm39) missense probably benign 0.00
R4994:Serpina3f UTSW 12 104,186,615 (GRCm39) missense probably benign 0.04
R5432:Serpina3f UTSW 12 104,186,577 (GRCm39) missense possibly damaging 0.79
R5733:Serpina3f UTSW 12 104,183,182 (GRCm39) missense possibly damaging 0.63
R7670:Serpina3f UTSW 12 104,183,525 (GRCm39) missense probably damaging 1.00
R7727:Serpina3f UTSW 12 104,184,477 (GRCm39) missense probably benign 0.37
R7754:Serpina3f UTSW 12 104,183,565 (GRCm39) missense possibly damaging 0.69
R8150:Serpina3f UTSW 12 104,185,769 (GRCm39) missense probably damaging 1.00
R8798:Serpina3f UTSW 12 104,183,702 (GRCm39) missense probably benign 0.07
R8801:Serpina3f UTSW 12 104,185,737 (GRCm39) missense probably benign 0.16
R8974:Serpina3f UTSW 12 104,183,642 (GRCm39) missense probably damaging 1.00
R9223:Serpina3f UTSW 12 104,183,444 (GRCm39) missense possibly damaging 0.95
R9239:Serpina3f UTSW 12 104,184,710 (GRCm39) missense possibly damaging 0.91
R9623:Serpina3f UTSW 12 104,183,743 (GRCm39) missense probably damaging 0.99
R9650:Serpina3f UTSW 12 104,186,519 (GRCm39) missense possibly damaging 0.88
R9726:Serpina3f UTSW 12 104,184,698 (GRCm39) missense probably damaging 1.00
X0028:Serpina3f UTSW 12 104,183,530 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CATTCAGCATCTGCACTGCC -3'
(R):5'- GATGTAATTCACCAGCACCATC -3'

Sequencing Primer
(F):5'- CTGTCCCTGGGAGCAAAGAG -3'
(R):5'- AGCACCATCAATGTCCTTTTATCCAG -3'
Posted On 2015-09-25