Incidental Mutation 'IGL01990:Atf5'
ID 182038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atf5
Ensembl Gene ENSMUSG00000038539
Gene Name activating transcription factor 5
Synonyms Atf7, ODA-10, Atfx, AFTA
Accession Numbers
Essential gene? Possibly essential (E-score: 0.560) question?
Stock # IGL01990
Quality Score
Status
Chromosome 7
Chromosomal Location 44461680-44466082 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 44462473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 217 (D217A)
Ref Sequence ENSEMBL: ENSMUSP00000103525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047356] [ENSMUST00000057195] [ENSMUST00000107893] [ENSMUST00000118125] [ENSMUST00000207103] [ENSMUST00000208626] [ENSMUST00000209072] [ENSMUST00000208172]
AlphaFold O70191
Predicted Effect probably damaging
Transcript: ENSMUST00000047356
AA Change: D217A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047771
Gene: ENSMUSG00000038539
AA Change: D217A

DomainStartEndE-ValueType
low complexity region 30 37 N/A INTRINSIC
low complexity region 43 60 N/A INTRINSIC
low complexity region 75 98 N/A INTRINSIC
SCOP:d1dnpa2 116 158 9e-3 SMART
low complexity region 177 206 N/A INTRINSIC
BRLZ 207 271 4.93e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000057195
SMART Domains Protein: ENSMUSP00000056785
Gene: ENSMUSG00000109511

DomainStartEndE-ValueType
low complexity region 3 81 N/A INTRINSIC
low complexity region 102 112 N/A INTRINSIC
low complexity region 143 166 N/A INTRINSIC
low complexity region 199 251 N/A INTRINSIC
low complexity region 262 296 N/A INTRINSIC
Pfam:Nsp1_C 317 433 2.3e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107893
AA Change: D217A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103525
Gene: ENSMUSG00000038539
AA Change: D217A

DomainStartEndE-ValueType
low complexity region 30 37 N/A INTRINSIC
low complexity region 43 60 N/A INTRINSIC
low complexity region 75 98 N/A INTRINSIC
SCOP:d1dnpa2 116 158 9e-3 SMART
low complexity region 177 206 N/A INTRINSIC
BRLZ 207 271 4.93e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118125
SMART Domains Protein: ENSMUSP00000113726
Gene: ENSMUSG00000074141

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:AlaDh_PNT_C 47 111 6.6e-9 PFAM
Pfam:Pyr_redox_2 47 111 2e-9 PFAM
Pfam:HI0933_like 67 169 1.8e-8 PFAM
Pfam:FAD_binding_2 68 108 5e-8 PFAM
Pfam:Pyr_redox 68 109 8.5e-8 PFAM
Pfam:DAO 68 159 5.6e-8 PFAM
Pfam:NAD_binding_8 71 138 1.2e-15 PFAM
Pfam:Amino_oxidase 76 511 5.9e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149779
Predicted Effect probably benign
Transcript: ENSMUST00000207103
Predicted Effect probably benign
Transcript: ENSMUST00000208626
Predicted Effect probably benign
Transcript: ENSMUST00000209072
Predicted Effect probably benign
Transcript: ENSMUST00000208172
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal and postnatal lethality, absence of gastric milk in some mice, decreased body weight in mice that survive and loss of mature olfactory sensory neurons with increased apoptosis in olfactory epithelium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 A G 17: 33,653,068 (GRCm39) N376S probably benign Het
Adgrv1 T C 13: 81,705,115 (GRCm39) D1565G probably damaging Het
Azgp1 T C 5: 137,987,997 (GRCm39) W260R probably damaging Het
Cnr2 C T 4: 135,644,116 (GRCm39) R65C probably damaging Het
Col14a1 A G 15: 55,226,859 (GRCm39) Y203C unknown Het
Colec11 A G 12: 28,644,985 (GRCm39) Y170H probably benign Het
Exosc10 A G 4: 148,650,867 (GRCm39) Q471R possibly damaging Het
Gal3st1 G T 11: 3,948,741 (GRCm39) W316L probably damaging Het
Igfbp3 C A 11: 7,158,504 (GRCm39) R253L probably damaging Het
Kcnb2 A T 1: 15,383,178 (GRCm39) D168V probably benign Het
Khnyn T G 14: 56,125,045 (GRCm39) I433S possibly damaging Het
Naaa T A 5: 92,415,922 (GRCm39) T193S possibly damaging Het
Nsun7 G A 5: 66,418,416 (GRCm39) D49N probably damaging Het
Pappa T C 4: 65,074,924 (GRCm39) probably benign Het
Pfkfb2 A G 1: 130,633,107 (GRCm39) probably benign Het
Pkd1l3 C T 8: 110,387,438 (GRCm39) T1794I probably damaging Het
Prex2 A C 1: 11,193,457 (GRCm39) probably benign Het
Slc2a7 T G 4: 150,239,141 (GRCm39) I122S possibly damaging Het
Slc31a2 A G 4: 62,214,207 (GRCm39) K53E probably benign Het
Slc35f4 C T 14: 49,541,626 (GRCm39) probably null Het
Slc38a7 C T 8: 96,571,590 (GRCm39) W213* probably null Het
Slc5a4b T C 10: 75,896,188 (GRCm39) E589G probably benign Het
Syne2 A G 12: 76,101,707 (GRCm39) N5407S probably damaging Het
Tgm2 A T 2: 157,966,051 (GRCm39) D534E probably benign Het
Ugt1a7c A G 1: 88,023,324 (GRCm39) Y161C probably damaging Het
Vmn2r114 A G 17: 23,529,355 (GRCm39) M249T probably benign Het
Xkr9 A G 1: 13,771,203 (GRCm39) I240V probably benign Het
Zfat A G 15: 68,096,666 (GRCm39) L49P probably damaging Het
Zfhx2 G T 14: 55,311,047 (GRCm39) P549H probably damaging Het
Zfp551 C T 7: 12,156,343 (GRCm39) V25M possibly damaging Het
Other mutations in Atf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Atf5 APN 7 44,462,462 (GRCm39) missense probably damaging 0.97
R0418:Atf5 UTSW 7 44,462,821 (GRCm39) missense possibly damaging 0.53
R1709:Atf5 UTSW 7 44,462,707 (GRCm39) missense probably benign 0.41
R4041:Atf5 UTSW 7 44,462,921 (GRCm39) missense possibly damaging 0.91
R5260:Atf5 UTSW 7 44,464,510 (GRCm39) nonsense probably null
R6790:Atf5 UTSW 7 44,462,679 (GRCm39) splice site probably null
R7406:Atf5 UTSW 7 44,462,380 (GRCm39) missense possibly damaging 0.95
R7421:Atf5 UTSW 7 44,464,562 (GRCm39) missense probably damaging 0.96
Posted On 2014-05-07