Incidental Mutation 'IGL01678:Angel1'
ID103715
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Angel1
Ensembl Gene ENSMUSG00000021257
Gene Nameangel homolog 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.159) question?
Stock #IGL01678
Quality Score
Status
Chromosome12
Chromosomal Location86700502-86726460 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 86717026 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 500 (E500G)
Ref Sequence ENSEMBL: ENSMUSP00000021682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021682]
Predicted Effect probably benign
Transcript: ENSMUST00000021682
AA Change: E500G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021682
Gene: ENSMUSG00000021257
AA Change: E500G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Exo_endo_phos 245 653 4.1e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171293
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,405,019 M186K probably null Het
Adamts3 T C 5: 89,707,856 N385S probably damaging Het
Adamts6 T C 13: 104,313,688 V299A probably damaging Het
Car9 T C 4: 43,512,941 probably benign Het
Colec11 A G 12: 28,594,868 F209S probably damaging Het
Dock10 A G 1: 80,543,352 Y1179H probably damaging Het
Ece1 T A 4: 137,962,733 W697R probably damaging Het
Eml2 T A 7: 19,186,122 M117K probably benign Het
Flii G T 11: 60,716,846 probably benign Het
Frmpd1 T A 4: 45,243,717 D63E probably damaging Het
Ftmt A T 18: 52,332,134 H174L probably damaging Het
Gm438 A T 4: 144,777,873 M236K probably benign Het
Gm960 T A 19: 4,672,165 I76L possibly damaging Het
Gpr37l1 A G 1: 135,167,053 V151A probably damaging Het
Inppl1 T C 7: 101,832,596 T180A probably benign Het
Klhdc4 T C 8: 121,796,938 D513G possibly damaging Het
Klrb1a A G 6: 128,618,448 probably benign Het
Nit1 A G 1: 171,342,694 V270A probably damaging Het
Olfr774 A C 10: 129,238,668 D173A possibly damaging Het
Phox2b T A 5: 67,098,919 Y8F probably damaging Het
Psg20 T A 7: 18,680,870 S364C probably damaging Het
Rab38 T A 7: 88,430,532 V44E probably damaging Het
Rapgef4 T C 2: 72,242,225 probably benign Het
Ror1 C T 4: 100,425,968 P410L possibly damaging Het
Rptn A G 3: 93,396,811 N484D probably benign Het
Sirpb1a G T 3: 15,411,310 S142R probably damaging Het
Smox G A 2: 131,512,059 R17H possibly damaging Het
Trpm7 A T 2: 126,816,799 C1146S probably damaging Het
Upf3a C T 8: 13,791,930 A155V probably benign Het
Vmn1r212 A T 13: 22,883,911 V84D probably damaging Het
Vmn2r40 T C 7: 8,920,106 N419D probably damaging Het
Wdr92 T C 11: 17,232,790 V317A probably benign Het
Zfp143 C A 7: 110,080,351 probably benign Het
Zmat4 T A 8: 23,902,048 C7S probably damaging Het
Other mutations in Angel1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02712:Angel1 APN 12 86722839 splice site probably benign
IGL02738:Angel1 APN 12 86705286 missense probably benign 0.10
R0521:Angel1 UTSW 12 86722907 missense probably benign 0.01
R0626:Angel1 UTSW 12 86717713 critical splice donor site probably null
R1929:Angel1 UTSW 12 86702319 missense probably damaging 1.00
R4291:Angel1 UTSW 12 86720283 missense probably damaging 1.00
R4292:Angel1 UTSW 12 86720283 missense probably damaging 1.00
R4295:Angel1 UTSW 12 86720283 missense probably damaging 1.00
R4450:Angel1 UTSW 12 86721924 missense probably damaging 1.00
R4726:Angel1 UTSW 12 86721875 missense probably damaging 0.99
R7097:Angel1 UTSW 12 86726384 missense probably damaging 0.98
R7284:Angel1 UTSW 12 86720524 missense probably damaging 1.00
Posted On2014-01-21