Incidental Mutation 'R0418:Atf5'
ID 36864
Institutional Source Beutler Lab
Gene Symbol Atf5
Ensembl Gene ENSMUSG00000038539
Gene Name activating transcription factor 5
Synonyms Atf7, ODA-10, Atfx, AFTA
MMRRC Submission 038620-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.504) question?
Stock # R0418 (G1)
Quality Score 126
Status Validated
Chromosome 7
Chromosomal Location 44461680-44466082 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44462821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 101 (M101T)
Ref Sequence ENSEMBL: ENSMUSP00000103525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047356] [ENSMUST00000057195] [ENSMUST00000107893] [ENSMUST00000118125] [ENSMUST00000207103] [ENSMUST00000208172] [ENSMUST00000209072] [ENSMUST00000208626]
AlphaFold O70191
Predicted Effect possibly damaging
Transcript: ENSMUST00000047356
AA Change: M101T

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000047771
Gene: ENSMUSG00000038539
AA Change: M101T

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 possibly damaging
Transcript: ENSMUST00000107893
AA Change: M101T

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103525
Gene: ENSMUSG00000038539
AA Change: M101T

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: ENSMUST00000209072
Predicted Effect probably benign
Transcript: ENSMUST00000208626
Meta Mutation Damage Score 0.1081 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.2%
Validation Efficiency 98% (64/65)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik G T 2: 103,953,675 (GRCm39) probably null Het
Abca14 T C 7: 119,806,657 (GRCm39) L19P probably damaging Het
Abcb1a T A 5: 8,763,281 (GRCm39) V603E probably damaging Het
Acsl5 A G 19: 55,261,238 (GRCm39) D65G probably benign Het
Acss3 T C 10: 106,859,773 (GRCm39) Y311C probably damaging Het
Ak8 T G 2: 28,623,868 (GRCm39) I151S possibly damaging Het
Aldh1a1 T C 19: 20,606,413 (GRCm39) probably benign Het
Aldh1l1 A G 6: 90,546,875 (GRCm39) R393G possibly damaging Het
Ankhd1 T A 18: 36,767,353 (GRCm39) L1164Q probably damaging Het
Ascc3 G T 10: 50,625,022 (GRCm39) V1637L probably benign Het
Det1 T C 7: 78,493,765 (GRCm39) T80A probably benign Het
Dpp9 C T 17: 56,501,404 (GRCm39) probably benign Het
Fam13c A G 10: 70,370,591 (GRCm39) R244G probably damaging Het
Fat3 A T 9: 16,158,192 (GRCm39) N1139K probably damaging Het
Fbxo17 A G 7: 28,432,916 (GRCm39) T146A possibly damaging Het
Fli1 T C 9: 32,363,425 (GRCm39) probably benign Het
Glb1l2 T G 9: 26,705,397 (GRCm39) D151A probably damaging Het
Gli2 G A 1: 118,768,220 (GRCm39) T669I possibly damaging Het
Igsf3 C A 3: 101,342,751 (GRCm39) R463S probably damaging Het
Il1rl2 T C 1: 40,365,662 (GRCm39) V3A unknown Het
Irx3 G A 8: 92,526,708 (GRCm39) S332F probably benign Het
Katnb1 C T 8: 95,822,286 (GRCm39) T303M possibly damaging Het
Lrrc31 A T 3: 30,743,383 (GRCm39) L194Q probably damaging Het
Lrrc37a T G 11: 103,394,264 (GRCm39) E387A probably benign Het
Mapk14 T C 17: 28,910,763 (GRCm39) I17T probably benign Het
Mtif2 A G 11: 29,483,401 (GRCm39) probably benign Het
Myo16 A G 8: 10,619,918 (GRCm39) T1490A probably benign Het
Nfasc A G 1: 132,539,333 (GRCm39) V399A probably damaging Het
Nhsl3 A G 4: 129,117,477 (GRCm39) S396P probably damaging Het
Nobox T C 6: 43,284,169 (GRCm39) K1E probably null Het
Nr2c1 A T 10: 94,017,374 (GRCm39) M371L probably benign Het
Oplah C T 15: 76,182,687 (GRCm39) R924H probably benign Het
Or10ak16 C T 4: 118,750,448 (GRCm39) T56I possibly damaging Het
Or51a10 G A 7: 103,698,979 (GRCm39) T194I probably benign Het
Pappa2 C A 1: 158,544,560 (GRCm39) C1756F probably damaging Het
Pdzd8 G A 19: 59,289,361 (GRCm39) R680C probably damaging Het
Rassf3 G A 10: 121,253,075 (GRCm39) T44M probably benign Het
Rmnd1 T C 10: 4,377,693 (GRCm39) probably null Het
Rnf126 C T 10: 79,598,477 (GRCm39) probably benign Het
Rnf144b T C 13: 47,397,966 (GRCm39) S299P probably benign Het
Ryr2 A G 13: 11,848,981 (GRCm39) probably benign Het
Scel T A 14: 103,840,690 (GRCm39) S511T probably benign Het
Slc16a10 G T 10: 39,916,627 (GRCm39) S138* probably null Het
Slc36a4 A T 9: 15,645,562 (GRCm39) I330F probably damaging Het
Slc5a8 A G 10: 88,722,420 (GRCm39) I84M probably benign Het
Spag9 T C 11: 93,982,579 (GRCm39) probably benign Het
Suco C T 1: 161,662,419 (GRCm39) V671I probably benign Het
Suox G A 10: 128,506,754 (GRCm39) P425S probably damaging Het
Tmem266 T A 9: 55,344,697 (GRCm39) V443E probably benign Het
Tmprss11f A T 5: 86,704,870 (GRCm39) I16N probably benign Het
Tnik T A 3: 28,625,029 (GRCm39) Y321* probably null Het
Tnrc6b T C 15: 80,797,524 (GRCm39) M1357T probably benign Het
Tpbg C A 9: 85,726,803 (GRCm39) Y257* probably null Het
Usp37 A T 1: 74,529,266 (GRCm39) S138T probably benign Het
Veph1 T A 3: 66,162,449 (GRCm39) R70* probably null Het
Vmn2r17 C T 5: 109,600,747 (GRCm39) P682S probably damaging Het
Vmn2r79 A C 7: 86,651,611 (GRCm39) N337H probably benign Het
Vstm2b A G 7: 40,551,876 (GRCm39) D68G probably damaging Het
Vwa7 G T 17: 35,236,933 (GRCm39) A167S possibly damaging Het
Zfp647 A T 15: 76,795,586 (GRCm39) I358N probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Other mutations in Atf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Atf5 APN 7 44,462,462 (GRCm39) missense probably damaging 0.97
IGL01990:Atf5 APN 7 44,462,473 (GRCm39) missense probably damaging 0.99
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
Predicted Primers PCR Primer
(F):5'- CACCTCAATTAGCAGGTCCTTCACG -3'
(R):5'- CCGAAGTGGATAAAGCACAGTCCTC -3'

Sequencing Primer
(F):5'- GGTTGACAAGCCTGAATCCC -3'
(R):5'- ACAGTCCTCAGGGACTTTTATG -3'
Posted On 2013-05-09