Incidental Mutation 'R6150:Serpina1e'
ID489208
Institutional Source Beutler Lab
Gene Symbol Serpina1e
Ensembl Gene ENSMUSG00000072849
Gene Nameserine (or cysteine) peptidase inhibitor, clade A, member 1E
SynonymsSpi1-5, PI5
MMRRC Submission 044297-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.115) question?
Stock #R6150 (G1)
Quality Score225.009
Status Not validated
Chromosome12
Chromosomal Location103946931-103958975 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 103950807 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 201 (V201A)
Ref Sequence ENSEMBL: ENSMUSP00000113606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085054] [ENSMUST00000122229]
Predicted Effect probably benign
Transcript: ENSMUST00000085054
AA Change: V201A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082130
Gene: ENSMUSG00000072849
AA Change: V201A

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
SERPIN 53 410 3.17e-200 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122229
AA Change: V201A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113606
Gene: ENSMUSG00000072849
AA Change: V201A

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
SERPIN 53 410 3.17e-200 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 97% (56/58)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a1 A G 11: 61,213,508 T74A probably benign Het
Arhgef1 T C 7: 24,919,357 probably null Het
Art1 C G 7: 102,107,087 R162G probably benign Het
Boll T A 1: 55,270,653 I280F possibly damaging Het
Cep44 T C 8: 56,539,805 E258G probably benign Het
Cutc T A 19: 43,759,889 V75E probably damaging Het
Dtx1 T C 5: 120,681,363 K590R probably damaging Het
Eps8 A T 6: 137,517,174 D295E probably damaging Het
Erc2 C A 14: 28,141,291 S491Y probably damaging Het
F2rl3 G T 8: 72,762,738 A198S probably benign Het
Fam83b G A 9: 76,492,357 T488M probably damaging Het
Fitm2 A G 2: 163,470,074 L73P probably damaging Het
Fxyd1 T C 7: 31,054,803 probably null Het
Gm17186 T C 14: 51,680,726 noncoding transcript Het
Hivep3 C A 4: 119,734,077 S94* probably null Het
Ifna1 T A 4: 88,850,112 M9K probably null Het
Igsf11 G A 16: 39,023,349 E275K probably damaging Het
Itga1 G A 13: 114,968,233 L1086F probably benign Het
Itgav T C 2: 83,776,436 S374P probably benign Het
Jmy A T 13: 93,441,133 N842K probably benign Het
Kcnh6 G A 11: 106,020,731 V595M possibly damaging Het
Kif13b T A 14: 64,751,639 I823N probably damaging Het
Kif26b T C 1: 178,915,546 L1069P probably damaging Het
Kl T A 5: 150,988,853 M689K possibly damaging Het
Kmt2b G T 7: 30,588,477 probably benign Het
Map10 G A 8: 125,671,589 D574N probably damaging Het
Mau2 A T 8: 70,019,837 H565Q probably benign Het
Myb A G 10: 21,141,769 I641T probably damaging Het
Naaladl2 C A 3: 24,552,050 G15V probably null Het
Olfr370 G A 8: 83,541,153 C3Y probably benign Het
Olfr399 A C 11: 74,054,319 S147A probably benign Het
Olfr800 A G 10: 129,659,934 I43V probably benign Het
Olfr867 A T 9: 20,054,874 N78K probably benign Het
Otog A G 7: 46,264,059 E772G possibly damaging Het
Pla2g4d T C 2: 120,269,564 D674G probably damaging Het
Pmpcb A G 5: 21,737,139 probably null Het
Pomk A G 8: 25,983,256 V223A possibly damaging Het
Prpf40a T C 2: 53,157,915 M197V probably benign Het
Six5 C T 7: 19,097,521 P646S probably benign Het
Slc17a9 A G 2: 180,737,628 I298V probably benign Het
Slc37a2 G T 9: 37,238,347 T188K probably damaging Het
Slc6a11 T A 6: 114,245,618 F525I probably benign Het
Slit2 A T 5: 48,304,174 D1504V probably damaging Het
Srcap T A 7: 127,534,828 M907K probably damaging Het
Sspo T C 6: 48,486,379 L3746P probably benign Het
Supv3l1 A T 10: 62,435,722 N376K possibly damaging Het
Tekt3 A T 11: 63,094,657 T430S possibly damaging Het
Tex2 A T 11: 106,567,080 V508D probably benign Het
Tmem184c G T 8: 77,596,440 Q598K probably benign Het
Ube2v1 G A 2: 167,617,954 R42* probably null Het
Usp45 A C 4: 21,810,797 D331A probably damaging Het
Vangl1 T C 3: 102,184,519 T84A probably damaging Het
Vgll3 T A 16: 65,828,178 probably null Het
Vmn1r61 T A 7: 5,610,679 H212L probably benign Het
Vmn2r114 A G 17: 23,291,295 V737A probably benign Het
Vmn2r35 A T 7: 7,786,556 D727E probably damaging Het
Vps18 T A 2: 119,297,592 Y965* probably null Het
Zfp521 A T 18: 13,844,078 C1093S probably damaging Het
Zfp971 A C 2: 178,033,454 H282P probably benign Het
Other mutations in Serpina1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02249:Serpina1e APN 12 103951134 missense probably benign 0.22
IGL03186:Serpina1e APN 12 103949203 missense probably benign 0.05
R0517:Serpina1e UTSW 12 103949227 missense probably benign 0.00
R0529:Serpina1e UTSW 12 103949104 missense probably damaging 1.00
R0547:Serpina1e UTSW 12 103949191 missense probably benign
R1797:Serpina1e UTSW 12 103950891 missense probably benign 0.21
R1964:Serpina1e UTSW 12 103951207 missense probably damaging 0.99
R2311:Serpina1e UTSW 12 103951129 missense possibly damaging 0.95
R3889:Serpina1e UTSW 12 103950873 missense probably damaging 1.00
R4671:Serpina1e UTSW 12 103948082 missense probably damaging 0.98
R5518:Serpina1e UTSW 12 103950828 missense probably damaging 0.99
R6038:Serpina1e UTSW 12 103946836 unclassified probably null
R6038:Serpina1e UTSW 12 103946836 unclassified probably null
R6826:Serpina1e UTSW 12 103949138 missense probably benign 0.30
R7002:Serpina1e UTSW 12 103948079 missense probably benign 0.00
R7144:Serpina1e UTSW 12 103947018 makesense probably null
R7734:Serpina1e UTSW 12 103950892 missense probably benign 0.01
Predicted Primers
Posted On2017-10-10