Incidental Mutation 'R4397:Aig1'
ID 325543
Institutional Source Beutler Lab
Gene Symbol Aig1
Ensembl Gene ENSMUSG00000019806
Gene Name androgen-induced 1
Synonyms 1500031O19Rik, CGI-103
MMRRC Submission 041685-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R4397 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 13647054-13868980 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 13652982 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 237 (S237A)
Ref Sequence ENSEMBL: ENSMUSP00000019942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019942] [ENSMUST00000105534] [ENSMUST00000162610]
AlphaFold Q9D8B1
Predicted Effect probably benign
Transcript: ENSMUST00000019942
AA Change: S237A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000019942
Gene: ENSMUSG00000019806
AA Change: S237A

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 12 219 5.6e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105534
SMART Domains Protein: ENSMUSP00000101174
Gene: ENSMUSG00000019806

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 12 178 3.4e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162174
Predicted Effect probably benign
Transcript: ENSMUST00000162610
SMART Domains Protein: ENSMUSP00000125366
Gene: ENSMUSG00000019806

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 12 219 5.4e-74 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (55/57)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg4 T G X: 56,932,343 L2193V probably damaging Het
Agap2 G A 10: 127,090,483 A866T unknown Het
Baz1b C T 5: 135,244,446 R1475W probably damaging Het
Bmp1 C T 14: 70,490,542 probably null Het
Crybg3 A G 16: 59,560,095 probably benign Het
Dnajc15 T C 14: 77,874,794 probably null Het
Fam135b T A 15: 71,448,676 H1334L probably benign Het
Fancg A T 4: 43,008,897 H113Q probably benign Het
Gfap G A 11: 102,896,984 A45V probably benign Het
Gjd3 A T 11: 98,982,421 L199Q probably damaging Het
Gm8979 A G 7: 106,082,923 noncoding transcript Het
H13 A G 2: 152,677,552 D65G probably damaging Het
Hcls1 T C 16: 36,937,300 V5A possibly damaging Het
Hjurp GT GTT 1: 88,266,524 probably null Het
Homer3 G A 8: 70,290,143 probably null Het
Iqgap3 T C 3: 88,104,358 Y817H probably damaging Het
Iqsec2 C T X: 152,209,053 T562I probably damaging Het
Klb A G 5: 65,380,039 Y904C probably damaging Het
Kremen1 A T 11: 5,199,610 S354T probably benign Het
Lamc3 A G 2: 31,931,952 E1304G probably benign Het
Lrp4 T C 2: 91,511,670 V1876A probably benign Het
Magi3 T C 3: 104,219,714 T85A probably damaging Het
Map3k12 C T 15: 102,501,259 A694T probably benign Het
Mex3b T C 7: 82,869,823 S449P possibly damaging Het
Naip6 C T 13: 100,300,600 A472T probably benign Het
Nars2 T C 7: 96,973,564 probably null Het
Nlrp1a T G 11: 71,097,204 M1046L probably benign Het
Nphs1 T G 7: 30,481,965 probably null Het
Nup133 G A 8: 123,944,301 T119M probably benign Het
Olfr770 G T 10: 129,133,581 N62K possibly damaging Het
Pcdhga9 A T 18: 37,738,641 I508F probably damaging Het
Phactr3 A G 2: 178,175,406 probably benign Het
Plcb3 T C 19: 6,965,825 K155E probably damaging Het
Plxna2 C T 1: 194,749,317 S538F probably damaging Het
Prss38 T C 11: 59,373,028 Y286C probably damaging Het
Psg16 T C 7: 17,090,698 S45P possibly damaging Het
Ptpn21 G T 12: 98,688,248 P820Q probably damaging Het
Ptpn21 A G 12: 98,715,060 V105A probably damaging Het
Rnf7 A G 9: 96,478,410 M58T probably benign Het
Slc25a11 G A 11: 70,644,851 A287V probably benign Het
Slit2 G T 5: 48,220,081 probably null Het
Suco A G 1: 161,844,852 Y460H probably damaging Het
Tnxb C T 17: 34,678,662 Q804* probably null Het
Trpv6 A G 6: 41,625,238 I379T possibly damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,211,984 probably benign Het
Virma A G 4: 11,513,901 E585G possibly damaging Het
Vmn2r79 A G 7: 87,001,891 H166R possibly damaging Het
Vmn2r88 A T 14: 51,417,978 D549V probably damaging Het
Other mutations in Aig1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02343:Aig1 APN 10 13868674 missense probably damaging 0.99
IGL02715:Aig1 APN 10 13868616 critical splice donor site probably null
R0697:Aig1 UTSW 10 13829325 missense probably benign 0.01
R1699:Aig1 UTSW 10 13868622 missense possibly damaging 0.85
R1761:Aig1 UTSW 10 13690584 missense probably damaging 1.00
R3934:Aig1 UTSW 10 13801912 missense probably damaging 1.00
R4736:Aig1 UTSW 10 13801930 missense probably damaging 0.97
R4767:Aig1 UTSW 10 13801858 missense probably damaging 1.00
R5081:Aig1 UTSW 10 13801900 missense probably benign 0.01
R5907:Aig1 UTSW 10 13801784 intron probably benign
R7944:Aig1 UTSW 10 13868673 missense probably damaging 1.00
R9105:Aig1 UTSW 10 13653595 missense probably benign 0.10
R9270:Aig1 UTSW 10 13653761 splice site probably null
R9381:Aig1 UTSW 10 13647673 missense probably benign 0.39
R9778:Aig1 UTSW 10 13653013 critical splice acceptor site probably null
X0018:Aig1 UTSW 10 13690524 nonsense probably null
Predicted Primers
Posted On 2015-07-06