Incidental Mutation 'R7144:Serpina1e'
ID 553668
Institutional Source Beutler Lab
Gene Symbol Serpina1e
Ensembl Gene ENSMUSG00000072849
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 1E
Synonyms PI5, Spi1-5
MMRRC Submission 045328-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R7144 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 103913190-103923156 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to G at 103913277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Cysteine at position 414 (*414C)
Ref Sequence ENSEMBL: ENSMUSP00000082130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085054] [ENSMUST00000122229]
AlphaFold Q00898
Predicted Effect probably null
Transcript: ENSMUST00000085054
AA Change: *414C
SMART Domains Protein: ENSMUSP00000082130
Gene: ENSMUSG00000072849
AA Change: *414C

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
SERPIN 53 410 3.17e-200 SMART
Predicted Effect probably null
Transcript: ENSMUST00000122229
AA Change: *414C
SMART Domains Protein: ENSMUSP00000113606
Gene: ENSMUSG00000072849
AA Change: *414C

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
SERPIN 53 410 3.17e-200 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (95/96)
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,032,796 (GRCm39) I272F possibly damaging Het
Adcy10 G T 1: 165,337,939 (GRCm39) M184I probably benign Het
Aldoa G T 7: 126,396,034 (GRCm39) T124N possibly damaging Het
Ap4e1 T A 2: 126,853,727 (GRCm39) I55N probably damaging Het
Arhgap21 T C 2: 20,870,198 (GRCm39) T913A probably benign Het
Atrnl1 G A 19: 58,030,784 (GRCm39) E1309K probably damaging Het
BC034090 A T 1: 155,117,777 (GRCm39) C114S probably damaging Het
Brinp2 A G 1: 158,122,994 (GRCm39) probably null Het
Ccn4 T A 15: 66,784,879 (GRCm39) V184E probably damaging Het
Ccna1 G T 3: 54,953,120 (GRCm39) H408Q probably benign Het
Cd209g T G 8: 4,185,189 (GRCm39) probably benign Het
Cdc20b A G 13: 113,219,905 (GRCm39) I433V probably benign Het
Cdk2ap1 G A 5: 124,492,421 (GRCm39) P5L probably damaging Het
Cep128 T C 12: 91,260,933 (GRCm39) E310G probably damaging Het
Cflar G T 1: 58,793,007 (GRCm39) V458F Het
Clec4b2 A G 6: 123,158,343 (GRCm39) T70A probably benign Het
Cntnap5c A G 17: 58,593,883 (GRCm39) T741A probably benign Het
Csf3r A T 4: 125,937,515 (GRCm39) T800S probably benign Het
Csnk1g2 T C 10: 80,473,733 (GRCm39) Y67H probably damaging Het
Cyp2c67 A T 19: 39,604,138 (GRCm39) V406E probably benign Het
Dnah10 A G 5: 124,900,006 (GRCm39) D3868G probably damaging Het
Dnah7a A T 1: 53,737,867 (GRCm39) probably null Het
Dst A G 1: 34,191,324 (GRCm39) N208S probably damaging Het
Echdc3 A G 2: 6,211,224 (GRCm39) probably null Het
Edrf1 T C 7: 133,239,578 (GRCm39) S13P probably benign Het
Ephb1 T C 9: 101,841,276 (GRCm39) Y734C probably damaging Het
Eps8l1 A G 7: 4,475,184 (GRCm39) Y325C probably damaging Het
Evc2 A G 5: 37,544,183 (GRCm39) D644G probably damaging Het
Eya4 A C 10: 23,048,943 (GRCm39) D54E probably benign Het
Filip1 T C 9: 79,727,495 (GRCm39) S375G possibly damaging Het
Fmo9 A G 1: 166,505,189 (GRCm39) M68T probably benign Het
Gemin5 G C 11: 58,032,489 (GRCm39) P772A probably benign Het
Gle1 T G 2: 29,833,805 (GRCm39) C401G probably damaging Het
Gm7298 A T 6: 121,738,546 (GRCm39) I376F probably damaging Het
Gpr35 A C 1: 92,910,353 (GRCm39) I22L probably benign Het
Grin2b T G 6: 135,710,474 (GRCm39) D1024A possibly damaging Het
Hmcn1 T C 1: 150,539,624 (GRCm39) N2956D probably damaging Het
Htt T C 5: 35,003,350 (GRCm39) L1275P probably damaging Het
Ibtk T C 9: 85,625,744 (GRCm39) D2G probably benign Het
Il16 T A 7: 83,295,659 (GRCm39) D1170V probably damaging Het
Iqgap3 T A 3: 88,024,217 (GRCm39) I1513N probably damaging Het
Kiz T G 2: 146,792,430 (GRCm39) probably null Het
Krt12 A T 11: 99,306,839 (GRCm39) *488K probably null Het
Lap3 A T 5: 45,654,290 (GRCm39) T83S probably benign Het
Lars2 T A 9: 123,261,058 (GRCm39) S410T probably damaging Het
Limch1 A G 5: 67,175,001 (GRCm39) T518A probably benign Het
Lrrc49 A T 9: 60,522,439 (GRCm39) S381T probably damaging Het
Lrrk2 A G 15: 91,618,258 (GRCm39) D919G possibly damaging Het
Mmp1a A T 9: 7,475,319 (GRCm39) S363C probably damaging Het
Mrps22 A C 9: 98,483,524 (GRCm39) probably null Het
Mybpc3 T C 2: 90,964,949 (GRCm39) I1066T probably benign Het
Myo10 A T 15: 25,724,011 (GRCm39) N215I probably damaging Het
Myocd A C 11: 65,109,474 (GRCm39) L99R probably damaging Het
Nadk T G 4: 155,673,793 (GRCm39) I394S probably damaging Het
Nadsyn1 T C 7: 143,364,952 (GRCm39) N251S probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Ncapd2 G A 6: 125,153,633 (GRCm39) P694L probably benign Het
Or2ag1 T A 7: 106,473,075 (GRCm39) I126F probably damaging Het
Or2w3b A C 11: 58,623,571 (GRCm39) L140R probably damaging Het
Or4a71 T C 2: 89,357,901 (GRCm39) I284M probably damaging Het
Or5t16 G T 2: 86,819,164 (GRCm39) R119S probably damaging Het
Pcdhb13 T A 18: 37,576,309 (GRCm39) I229K probably damaging Het
Pgbd5 A T 8: 125,101,056 (GRCm39) M400K possibly damaging Het
Phactr3 A G 2: 177,944,529 (GRCm39) N409S probably damaging Het
Pik3c2g C A 6: 139,606,868 (GRCm39) P305Q probably damaging Het
Pik3r4 G A 9: 105,527,783 (GRCm39) V379M probably damaging Het
Pira12 A G 7: 3,900,615 (GRCm39) V45A probably damaging Het
Pkd1l2 A T 8: 117,802,870 (GRCm39) C250* probably null Het
Pramel14 A C 4: 143,718,103 (GRCm39) S447A probably benign Het
Rapgef6 A C 11: 54,548,191 (GRCm39) T792P possibly damaging Het
Rexo5 A G 7: 119,404,414 (GRCm39) D170G probably damaging Het
Rnf17 G A 14: 56,749,789 (GRCm39) probably null Het
Septin11 A G 5: 93,304,725 (GRCm39) I181V probably benign Het
Serpine1 C A 5: 137,099,918 (GRCm39) Q80H probably damaging Het
Sh3bp2 A G 5: 34,718,975 (GRCm39) N560S probably benign Het
Slc25a25 A G 2: 32,309,178 (GRCm39) F221S probably damaging Het
Spag17 G T 3: 99,934,717 (GRCm39) probably null Het
Sspn T C 6: 145,906,881 (GRCm39) L104P probably damaging Het
St18 A C 1: 6,903,818 (GRCm39) E693A probably damaging Het
St6galnac3 T C 3: 153,117,169 (GRCm39) I185V possibly damaging Het
St8sia1 T C 6: 142,822,395 (GRCm39) D156G probably damaging Het
Syne2 C A 12: 76,052,152 (GRCm39) S4092R probably benign Het
Tll1 T A 8: 64,577,979 (GRCm39) D76V possibly damaging Het
Tmco1 C T 1: 167,136,022 (GRCm39) probably benign Het
Tnfaip3 T A 10: 18,883,029 (GRCm39) T179S probably benign Het
Trav16 T C 14: 53,981,096 (GRCm39) I95T possibly damaging Het
Trip12 A T 1: 84,771,435 (GRCm39) S280T probably damaging Het
Unc79 A G 12: 103,108,885 (GRCm39) M2166V probably benign Het
Vmn2r1 A G 3: 63,997,362 (GRCm39) I339M probably damaging Het
Vwa5b1 A G 4: 138,332,742 (GRCm39) probably null Het
Washc4 A T 10: 83,409,638 (GRCm39) probably null Het
Wiz A G 17: 32,576,602 (GRCm39) S642P possibly damaging Het
Zeb2 T A 2: 45,000,053 (GRCm39) K60N possibly damaging Het
Zfat T A 15: 68,050,631 (GRCm39) T797S probably benign Het
Zfp74 T C 7: 29,634,590 (GRCm39) K373E probably damaging Het
Zswim5 T C 4: 116,833,173 (GRCm39) probably null Het
Other mutations in Serpina1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02249:Serpina1e APN 12 103,917,393 (GRCm39) missense probably benign 0.22
IGL03186:Serpina1e APN 12 103,915,462 (GRCm39) missense probably benign 0.05
BB004:Serpina1e UTSW 12 103,917,450 (GRCm39) missense probably benign 0.06
BB014:Serpina1e UTSW 12 103,917,450 (GRCm39) missense probably benign 0.06
R0517:Serpina1e UTSW 12 103,915,486 (GRCm39) missense probably benign 0.00
R0529:Serpina1e UTSW 12 103,915,363 (GRCm39) missense probably damaging 1.00
R0547:Serpina1e UTSW 12 103,915,450 (GRCm39) missense probably benign
R1797:Serpina1e UTSW 12 103,917,150 (GRCm39) missense probably benign 0.21
R1964:Serpina1e UTSW 12 103,917,466 (GRCm39) missense probably damaging 0.99
R2311:Serpina1e UTSW 12 103,917,388 (GRCm39) missense possibly damaging 0.95
R3889:Serpina1e UTSW 12 103,917,132 (GRCm39) missense probably damaging 1.00
R4671:Serpina1e UTSW 12 103,914,341 (GRCm39) missense probably damaging 0.98
R5518:Serpina1e UTSW 12 103,917,087 (GRCm39) missense probably damaging 0.99
R6038:Serpina1e UTSW 12 103,913,095 (GRCm39) splice site probably null
R6038:Serpina1e UTSW 12 103,913,095 (GRCm39) splice site probably null
R6150:Serpina1e UTSW 12 103,917,066 (GRCm39) missense probably benign
R6826:Serpina1e UTSW 12 103,915,397 (GRCm39) missense probably benign 0.30
R7002:Serpina1e UTSW 12 103,914,338 (GRCm39) missense probably benign 0.00
R7734:Serpina1e UTSW 12 103,917,151 (GRCm39) missense probably benign 0.01
R7927:Serpina1e UTSW 12 103,917,450 (GRCm39) missense probably benign 0.06
R8158:Serpina1e UTSW 12 103,917,354 (GRCm39) missense probably benign 0.00
R8276:Serpina1e UTSW 12 103,913,428 (GRCm39) missense probably damaging 0.96
R8715:Serpina1e UTSW 12 103,917,177 (GRCm39) missense probably benign 0.24
R9034:Serpina1e UTSW 12 103,917,361 (GRCm39) missense probably benign 0.00
R9343:Serpina1e UTSW 12 103,917,299 (GRCm39) missense probably benign 0.01
R9549:Serpina1e UTSW 12 103,917,243 (GRCm39) missense possibly damaging 0.79
Z1176:Serpina1e UTSW 12 103,917,568 (GRCm39) missense probably benign 0.00
Z1176:Serpina1e UTSW 12 103,914,416 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCTATTTGCATGGCTGGAGAAG -3'
(R):5'- GTGCTGACCATCGATGAGAC -3'

Sequencing Primer
(F):5'- CTATTTGCATGGCTGGAGAAGATATC -3'
(R):5'- CTGACCATCGATGAGACAGGAAC -3'
Posted On 2019-05-15