Incidental Mutation 'IGL01534:Atf5'
ID89890
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atf5
Ensembl Gene ENSMUSG00000038539
Gene Nameactivating transcription factor 5
SynonymsAFTA, Atfx, ODA-10, Atf7
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.622) question?
Stock #IGL01534
Quality Score
Status
Chromosome7
Chromosomal Location44812256-44816658 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44813038 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 221 (S221P)
Ref Sequence ENSEMBL: ENSMUSP00000103525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047356] [ENSMUST00000057195] [ENSMUST00000107893] [ENSMUST00000118125] [ENSMUST00000207103] [ENSMUST00000208172] [ENSMUST00000208626] [ENSMUST00000209072]
Predicted Effect probably damaging
Transcript: ENSMUST00000047356
AA Change: S221P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000047771
Gene: ENSMUSG00000038539
AA Change: S221P

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: S221P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103525
Gene: ENSMUSG00000038539
AA Change: S221P

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: ENSMUST00000208172
Predicted Effect probably benign
Transcript: ENSMUST00000208626
Predicted Effect probably benign
Transcript: ENSMUST00000209072
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,368,081 L111P possibly damaging Het
Adck5 C A 15: 76,594,726 H383Q probably damaging Het
Asns T A 6: 7,675,397 H535L probably benign Het
Atr T C 9: 95,865,546 Y294H probably damaging Het
B230307C23Rik A G 16: 98,008,761 probably benign Het
C1qtnf6 C T 15: 78,525,216 E144K probably benign Het
Casp8ap2 C T 4: 32,648,134 probably benign Het
Cd48 C A 1: 171,695,739 P50Q possibly damaging Het
Cnnm4 T C 1: 36,499,515 Y593H probably benign Het
Col27a1 G A 4: 63,225,782 R569Q probably benign Het
Cubn A T 2: 13,465,933 C549* probably null Het
Dsg1a T A 18: 20,340,996 M1042K probably benign Het
Dzip1 T A 14: 118,877,239 T835S probably damaging Het
Eif3c T C 7: 126,557,695 T389A probably benign Het
Erlin2 G T 8: 27,031,957 E177* probably null Het
Fam172a T A 13: 77,999,711 probably benign Het
Gabrb1 T A 5: 71,869,429 S91T possibly damaging Het
Grik3 T C 4: 125,686,190 V576A probably damaging Het
Gtpbp2 T A 17: 46,163,504 Y70N probably damaging Het
Idh3a T A 9: 54,601,222 probably benign Het
Ift74 G A 4: 94,679,944 R406H probably benign Het
Kcna7 C A 7: 45,406,511 N50K probably damaging Het
Kcnd2 T C 6: 21,726,145 S546P probably benign Het
Lrp4 G A 2: 91,473,641 D134N probably damaging Het
Mcm2 A G 6: 88,887,718 probably null Het
Nlrp12 T C 7: 3,239,833 Y683C probably benign Het
Olfr1104 A G 2: 87,021,884 I220T probably damaging Het
Olfr114 A T 17: 37,590,072 Y94N possibly damaging Het
Olfr1499 T A 19: 13,815,302 H96L probably benign Het
Olfr1502 A T 19: 13,861,919 N42I probably damaging Het
Olfr710 T A 7: 106,944,339 I221F probably damaging Het
P2rx7 A C 5: 122,676,698 I409L probably damaging Het
Pde10a A G 17: 8,944,970 N191S probably damaging Het
Rabggtb A G 3: 153,910,259 probably null Het
Rgs4 A T 1: 169,744,516 C71* probably null Het
Rnase10 T C 14: 51,007,979 F5L probably benign Het
Scn11a T A 9: 119,780,822 T987S probably benign Het
Shox2 A C 3: 66,978,363 D126E probably benign Het
Slc12a1 A G 2: 125,217,910 D910G probably damaging Het
Slc15a1 C T 14: 121,464,952 C594Y possibly damaging Het
Spock2 C T 10: 60,127,061 probably benign Het
Togaram1 G T 12: 64,966,547 D191Y probably damaging Het
Triml2 T C 8: 43,187,623 V172A probably benign Het
Tubb3 C T 8: 123,420,966 R213C probably benign Het
Vmn2r4 A T 3: 64,406,423 V379E probably damaging Het
Zfp446 C T 7: 12,979,566 P153L probably damaging Het
Zfp608 A T 18: 54,898,932 N645K probably damaging Het
Other mutations in Atf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01990:Atf5 APN 7 44813049 missense probably damaging 0.99
R0418:Atf5 UTSW 7 44813397 missense possibly damaging 0.53
R1709:Atf5 UTSW 7 44813283 missense probably benign 0.41
R4041:Atf5 UTSW 7 44813497 missense possibly damaging 0.91
R5260:Atf5 UTSW 7 44815086 nonsense probably null
R6790:Atf5 UTSW 7 44813255 splice site probably null
R7406:Atf5 UTSW 7 44812956 missense possibly damaging 0.95
R7421:Atf5 UTSW 7 44815138 missense probably damaging 0.96
Posted On2013-12-03