Incidental Mutation 'R0739:Serpina3f'
ID 70636
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 038920-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R0739 (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 104184612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 252 (V252A)
Ref Sequence ENSEMBL: ENSMUSP00000126520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101080] [ENSMUST00000121337] [ENSMUST00000167049]
AlphaFold Q80X76
Predicted Effect probably damaging
Transcript: ENSMUST00000101080
AA Change: V252A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000098641
Gene: ENSMUSG00000066363
AA Change: V252A

DomainStartEndE-ValueType
SERPIN 46 408 1.58e-186 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121337
AA Change: V252A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113945
Gene: ENSMUSG00000066363
AA Change: V252A

DomainStartEndE-ValueType
SERPIN 46 408 1.58e-186 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167049
AA Change: V252A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126520
Gene: ENSMUSG00000066363
AA Change: V252A

DomainStartEndE-ValueType
SERPIN 46 408 1.58e-186 SMART
Meta Mutation Damage Score 0.4304 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,227,961 (GRCm39) E327G probably damaging Het
Adcy6 T C 15: 98,496,260 (GRCm39) D593G probably benign Het
Ankmy1 T C 1: 92,816,370 (GRCm39) D248G probably damaging Het
Atp2a1 T C 7: 126,047,428 (GRCm39) I743V possibly damaging Het
Axdnd1 T C 1: 156,208,456 (GRCm39) N396D possibly damaging Het
Cacna1e C T 1: 154,318,024 (GRCm39) A1391T probably damaging Het
Ccr8 G A 9: 119,923,415 (GRCm39) G177S probably damaging Het
Clmn C T 12: 104,747,276 (GRCm39) G757D possibly damaging Het
Cntn2 T A 1: 132,456,750 (GRCm39) I99F probably damaging Het
D6Ertd527e C G 6: 87,088,650 (GRCm39) A271G unknown Het
Dnah1 A T 14: 30,987,872 (GRCm39) C3515* probably null Het
Eif2d A G 1: 131,082,100 (GRCm39) Y64C probably damaging Het
Elovl4 A G 9: 83,667,162 (GRCm39) F65S probably damaging Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fbn1 T C 2: 125,209,550 (GRCm39) E938G probably benign Het
Foxn1 T C 11: 78,249,825 (GRCm39) T567A probably benign Het
Gabrr1 T C 4: 33,162,781 (GRCm39) M449T probably benign Het
Gdf2 C T 14: 33,663,178 (GRCm39) P24L probably damaging Het
Itgb3bp T C 4: 99,690,433 (GRCm39) I29V probably benign Het
Kcnk7 C T 19: 5,754,830 (GRCm39) probably null Het
Klf11 T C 12: 24,710,247 (GRCm39) S432P probably damaging Het
Neo1 C T 9: 58,829,160 (GRCm39) A580T probably benign Het
Nexmif G T X: 103,128,555 (GRCm39) Q1121K probably benign Het
Or51aa5 T C 7: 103,166,931 (GRCm39) Y220C probably damaging Het
Or51f5 T C 7: 102,423,872 (GRCm39) I47T probably damaging Het
Or5p62 T C 7: 107,771,217 (GRCm39) T245A probably benign Het
Osgepl1 G T 1: 53,362,354 (GRCm39) E399* probably null Het
Parvg T A 15: 84,215,222 (GRCm39) V197E probably damaging Het
Pcyt2 A G 11: 120,502,870 (GRCm39) L257P probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Psmd2 C T 16: 20,474,079 (GRCm39) R261C probably benign Het
Ptpn13 T C 5: 103,722,998 (GRCm39) F1981L probably benign Het
Rbp3 A T 14: 33,680,604 (GRCm39) I1069F probably benign Het
Rhbdf2 A T 11: 116,490,987 (GRCm39) L655Q probably damaging Het
Sec16a A T 2: 26,331,063 (GRCm39) N317K possibly damaging Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Smyd2 T C 1: 189,621,059 (GRCm39) T220A possibly damaging Het
Snrpb2 T A 2: 142,907,281 (GRCm39) probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Sptan1 A T 2: 29,903,530 (GRCm39) I1502F probably damaging Het
Srprb A T 9: 103,074,794 (GRCm39) L116H probably damaging Het
Stradb T A 1: 59,016,174 (GRCm39) probably benign Het
Tm9sf4 C A 2: 153,045,734 (GRCm39) F535L probably damaging Het
Tmprss15 A T 16: 78,821,736 (GRCm39) S440T possibly damaging Het
Tpr C T 1: 150,283,248 (GRCm39) A293V possibly damaging Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Usp35 C A 7: 96,960,874 (GRCm39) E851* probably null Het
Zc3h14 T A 12: 98,723,460 (GRCm39) V250D probably damaging Het
Zfp568 T A 7: 29,722,746 (GRCm39) C564S 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
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
R4619:Serpina3f UTSW 12 104,183,549 (GRCm39) missense possibly damaging 0.93
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'- CAAATGGGAGATGCCCTTTGATCCG -3'
(R):5'- GGGGACTCAATTCAACTCCACCTG -3'

Sequencing Primer
(F):5'- TGTGAAGGTGCCCATGATGA -3'
(R):5'- CTTTACACAGGCTGTAAGTGAGAC -3'
Posted On 2013-09-30