Incidental Mutation 'IGL00837:Adig'
ID8619
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adig
Ensembl Gene ENSMUSG00000044405
Gene Nameadipogenin
SynonymsSMAF1
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00837
Quality Score
Status
Chromosome2
Chromosomal Location158502612-158508198 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 158502789 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 16 (F16Y)
Ref Sequence ENSEMBL: ENSMUSP00000051732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046274] [ENSMUST00000059889] [ENSMUST00000109484] [ENSMUST00000109486] [ENSMUST00000141497]
Predicted Effect probably benign
Transcript: ENSMUST00000046274
SMART Domains Protein: ENSMUSP00000048430
Gene: ENSMUSG00000027652

DomainStartEndE-ValueType
low complexity region 166 178 N/A INTRINSIC
low complexity region 610 625 N/A INTRINSIC
low complexity region 775 788 N/A INTRINSIC
low complexity region 910 920 N/A INTRINSIC
low complexity region 1086 1097 N/A INTRINSIC
low complexity region 1309 1321 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000059889
AA Change: F16Y

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000051732
Gene: ENSMUSG00000044405
AA Change: F16Y

DomainStartEndE-ValueType
Pfam:Adipogenin 1 79 5.8e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109484
Predicted Effect probably benign
Transcript: ENSMUST00000109486
SMART Domains Protein: ENSMUSP00000105112
Gene: ENSMUSG00000027652

DomainStartEndE-ValueType
low complexity region 166 178 N/A INTRINSIC
low complexity region 610 625 N/A INTRINSIC
low complexity region 779 792 N/A INTRINSIC
low complexity region 914 924 N/A INTRINSIC
low complexity region 1090 1101 N/A INTRINSIC
low complexity region 1313 1325 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141497
SMART Domains Protein: ENSMUSP00000116481
Gene: ENSMUSG00000027652

DomainStartEndE-ValueType
low complexity region 288 303 N/A INTRINSIC
low complexity region 457 470 N/A INTRINSIC
low complexity region 592 602 N/A INTRINSIC
low complexity region 768 779 N/A INTRINSIC
low complexity region 991 1003 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148187
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1r1 T C 6: 55,461,620 probably benign Het
Alox12e T C 11: 70,321,054 T210A probably benign Het
Ankfy1 T A 11: 72,755,898 probably benign Het
Aoc1 T A 6: 48,908,664 I701N possibly damaging Het
Armc1 A C 3: 19,144,420 N125K probably benign Het
Bcl2a1c A T 9: 114,330,492 T113S probably benign Het
Cdh10 A T 15: 19,013,404 I697L probably benign Het
Cep350 A T 1: 155,953,391 S256T probably damaging Het
Chd6 T C 2: 161,042,079 N82S probably benign Het
Gart T C 16: 91,638,720 probably benign Het
Gtf3c6 A G 10: 40,254,474 probably benign Het
Igf1r T C 7: 68,201,352 probably benign Het
Mtmr6 T A 14: 60,280,217 Y92* probably null Het
Muc13 A T 16: 33,807,959 K360* probably null Het
Nfyc A G 4: 120,781,547 probably benign Het
Pole T A 5: 110,302,009 V774E possibly damaging Het
Rnf217 A G 10: 31,503,774 L484P probably damaging Het
Slc18a2 A T 19: 59,284,384 I373F probably benign Het
Slc5a9 A G 4: 111,893,690 probably benign Het
Tbc1d30 T C 10: 121,296,845 I205V probably damaging Het
Tfap2d A T 1: 19,119,206 D270V probably damaging Het
Tmem63c G A 12: 87,077,197 S483N probably benign Het
Tor1aip1 T A 1: 156,006,916 probably benign Het
Tsga10 A C 1: 37,801,911 probably benign Het
Ttc21b A T 2: 66,235,571 probably null Het
Wdr89 A T 12: 75,633,051 L143* probably null Het
Other mutations in Adig
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5550:Adig UTSW 2 158507960 unclassified probably benign
R7238:Adig UTSW 2 158505853 missense unknown
R7396:Adig UTSW 2 158505916 missense unknown
Posted On2012-12-06