Incidental Mutation 'IGL02379:Serpina3a'
ID291297
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina3a
Ensembl Gene ENSMUSG00000041536
Gene Nameserine (or cysteine) peptidase inhibitor, clade A, member 3A
Synonyms4933406L18Rik, antitrypsin, alpha-1 antiproteinase,
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #IGL02379
Quality Score
Status
Chromosome12
Chromosomal Location104112724-104121896 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 104118660 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 105 (S105T)
Ref Sequence ENSEMBL: ENSMUSP00000105591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021496] [ENSMUST00000109965] [ENSMUST00000185595]
Predicted Effect probably benign
Transcript: ENSMUST00000021496
AA Change: S295T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000021496
Gene: ENSMUSG00000041536
AA Change: S295T

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 58 419 1.73e-151 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109965
AA Change: S105T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000105591
Gene: ENSMUSG00000041536
AA Change: S105T

DomainStartEndE-ValueType
SERPIN 4 229 5.39e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185595
AA Change: S295T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000140024
Gene: ENSMUSG00000041536
AA Change: S295T

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 58 419 1.73e-151 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,622,043 I996F probably damaging Het
Adamts9 T A 6: 92,797,033 D1133V probably damaging Het
Adi1 T A 12: 28,679,467 D106E probably damaging Het
Agl A G 3: 116,779,091 F837S probably damaging Het
Alb T A 5: 90,465,879 D207E probably benign Het
Alms1 T G 6: 85,629,633 V2286G probably damaging Het
Alpl G A 4: 137,742,558 A485V probably damaging Het
Antxrl C A 14: 34,056,535 probably null Het
Apc C T 18: 34,298,745 T417I probably benign Het
Ash2l T C 8: 25,822,771 D390G probably damaging Het
Asph G A 4: 9,474,980 P582S probably damaging Het
Bcr T A 10: 75,157,148 L825Q probably benign Het
Bhlha15 T A 5: 144,191,341 N90K probably damaging Het
Cgnl1 T A 9: 71,645,553 Y1043F possibly damaging Het
Chek1 T C 9: 36,723,946 D47G probably benign Het
Clca4b T A 3: 144,921,858 M451L probably benign Het
Csnk1g3 T C 18: 53,933,492 S346P probably benign Het
Cspg4 G T 9: 56,892,609 probably benign Het
Ctr9 A G 7: 111,051,519 K884E probably damaging Het
Cyld T A 8: 88,744,928 C813* probably null Het
Fn3k A T 11: 121,435,124 T46S probably benign Het
Foxred1 T C 9: 35,209,986 R89G probably benign Het
Gpr174 T C X: 107,293,478 F299L probably damaging Het
Hdac7 T C 15: 97,808,385 D312G probably damaging Het
Il1f8 A G 2: 24,154,638 S17G probably benign Het
Kcna5 G T 6: 126,534,509 P219T probably damaging Het
Kcnh2 A C 5: 24,326,638 V425G probably damaging Het
Klk5 A G 7: 43,850,822 N278S probably damaging Het
Mars2 T A 1: 55,238,053 W272R probably damaging Het
Msl3l2 C A 10: 56,115,921 S247R possibly damaging Het
Myh7 T C 14: 54,979,468 E1144G probably damaging Het
Nefm T C 14: 68,120,239 probably benign Het
Nwd2 A G 5: 63,805,301 K743E probably damaging Het
Nyap2 C T 1: 81,087,430 T53I probably damaging Het
Olfr1124 T C 2: 87,435,324 V279A probably benign Het
Olfr617 T C 7: 103,584,892 V290A possibly damaging Het
Peli2 A G 14: 48,168,298 H60R probably damaging Het
Pias2 T A 18: 77,145,148 probably benign Het
Pik3c2b A G 1: 133,094,791 D1157G probably damaging Het
Pip4k2a C T 2: 18,866,111 probably null Het
Raf1 A T 6: 115,644,548 D23E probably benign Het
Rhox10 G A X: 38,066,856 R87H probably benign Het
Rpgrip1 A G 14: 52,138,888 T449A possibly damaging Het
Slc12a9 T G 5: 137,321,429 Q608P probably damaging Het
Smg6 C A 11: 75,053,925 P167T probably damaging Het
Spata7 C T 12: 98,634,260 T44I probably damaging Het
Spink12 C T 18: 44,106,508 probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stag2 C T X: 42,250,597 T754I probably benign Het
Supt6 C T 11: 78,225,369 V723M possibly damaging Het
Ttc25 A T 11: 100,566,983 N471Y possibly damaging Het
Ubr3 A G 2: 69,948,488 D614G possibly damaging Het
Vps39 T A 2: 120,323,608 K624N probably benign Het
Vwa5b1 A T 4: 138,612,859 L29Q probably damaging Het
Wtap G A 17: 12,969,449 A188V probably benign Het
Zc3hc1 A G 6: 30,390,975 F5L probably benign Het
Zfp655 C T 5: 145,243,955 P208S probably benign Het
Zswim3 A T 2: 164,820,682 probably null Het
Other mutations in Serpina3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Serpina3a APN 12 104121499 missense probably benign 0.05
IGL02003:Serpina3a APN 12 104116000 missense probably benign 0.02
IGL02547:Serpina3a APN 12 104116543 missense probably damaging 0.98
IGL02593:Serpina3a APN 12 104118432 missense probably benign 0.01
IGL02730:Serpina3a APN 12 104119663 missense probably damaging 1.00
IGL02953:Serpina3a APN 12 104116489 missense probably benign 0.00
IGL03197:Serpina3a APN 12 104116241 missense probably damaging 1.00
R1184:Serpina3a UTSW 12 104116528 nonsense probably null
R1635:Serpina3a UTSW 12 104116478 missense probably damaging 1.00
R1688:Serpina3a UTSW 12 104118643 missense probably benign 0.06
R1804:Serpina3a UTSW 12 104118416 splice site probably benign
R1867:Serpina3a UTSW 12 104118627 missense probably benign 0.01
R1888:Serpina3a UTSW 12 104116103 missense probably benign 0.16
R1888:Serpina3a UTSW 12 104116103 missense probably benign 0.16
R2110:Serpina3a UTSW 12 104116222 missense probably damaging 0.97
R2111:Serpina3a UTSW 12 104116222 missense probably damaging 0.97
R2305:Serpina3a UTSW 12 104116528 missense probably benign 0.05
R2326:Serpina3a UTSW 12 104116499 missense probably benign 0.01
R2405:Serpina3a UTSW 12 104121318 missense possibly damaging 0.50
R4008:Serpina3a UTSW 12 104118643 missense probably benign 0.06
R4010:Serpina3a UTSW 12 104118643 missense probably benign 0.06
R4011:Serpina3a UTSW 12 104118643 missense probably benign 0.06
R4079:Serpina3a UTSW 12 104119675 nonsense probably null
R4091:Serpina3a UTSW 12 104116366 missense probably benign 0.01
R4092:Serpina3a UTSW 12 104116366 missense probably benign 0.01
R4210:Serpina3a UTSW 12 104118643 missense probably benign 0.06
R5064:Serpina3a UTSW 12 104116189 missense probably benign 0.01
R6242:Serpina3a UTSW 12 104116001 missense probably benign 0.10
R6337:Serpina3a UTSW 12 104112878 missense probably benign 0.36
R6395:Serpina3a UTSW 12 104116451 missense probably damaging 0.99
R6683:Serpina3a UTSW 12 104119637 missense probably benign 0.16
R6994:Serpina3a UTSW 12 104112830 splice site probably null
R7117:Serpina3a UTSW 12 104116177 missense possibly damaging 0.95
R8104:Serpina3a UTSW 12 104112851 start gained probably benign
R8131:Serpina3a UTSW 12 104116208 missense probably damaging 1.00
Posted On2015-04-16