Incidental Mutation 'R7149:Atf4'
ID 554022
Institutional Source Beutler Lab
Gene Symbol Atf4
Ensembl Gene ENSMUSG00000042406
Gene Name activating transcription factor 4
Synonyms Atf-4, CREB2, TAXREB67, C/ATF
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7149 (G1)
Quality Score 217.468
Status Not validated
Chromosome 15
Chromosomal Location 80139385-80141742 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) AAGCGGGCTGAGC to AAGC at 80141500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000023048] [ENSMUST00000052499] [ENSMUST00000109605] [ENSMUST00000228788] [ENSMUST00000229138] [ENSMUST00000229828]
AlphaFold Q06507
Predicted Effect probably benign
Transcript: ENSMUST00000023048
SMART Domains Protein: ENSMUSP00000023048
Gene: ENSMUSG00000022412

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Mab-21 189 455 7.09e-84 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000052499
SMART Domains Protein: ENSMUSP00000061167
Gene: ENSMUSG00000051518

DomainStartEndE-ValueType
Pfam:AROS 23 141 6.4e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109605
SMART Domains Protein: ENSMUSP00000105234
Gene: ENSMUSG00000042406

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
low complexity region 101 121 N/A INTRINSIC
low complexity region 246 257 N/A INTRINSIC
BRLZ 274 338 6.16e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000228788
Predicted Effect probably benign
Transcript: ENSMUST00000229138
Predicted Effect probably benign
Transcript: ENSMUST00000229828
Predicted Effect probably benign
Transcript: ENSMUST00000230189
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromosome at q28 in a region containing a large inverted duplication. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit postnatal lethality, abnormal lens development, and reduced male fertility. Mice homozygous for a different knock-out allele exhibit abnormal pancreatic and skeletal development, glucose homeostasis, and insulin homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A C 11: 100,375,451 (GRCm39) F790V probably damaging Het
Brd8 C T 18: 34,737,650 (GRCm39) probably null Het
Bsn A T 9: 107,993,520 (GRCm39) L744* probably null Het
Capn9 A G 8: 125,332,448 (GRCm39) D429G probably benign Het
CK137956 A T 4: 127,864,626 (GRCm39) M1K probably null Het
Cnot6 G A 11: 49,570,970 (GRCm39) P341S probably benign Het
Cracdl G A 1: 37,651,352 (GRCm39) Q1172* probably null Het
Dld T G 12: 31,385,589 (GRCm39) I251L probably benign Het
Dlg5 T C 14: 24,240,492 (GRCm39) K253R probably benign Het
Dnmt3a C T 12: 3,952,397 (GRCm39) P696L probably damaging Het
Dph1 T C 11: 75,070,001 (GRCm39) K409E probably benign Het
Dsg2 T C 18: 20,712,511 (GRCm39) S172P probably damaging Het
Gm1979 T C 5: 26,206,945 (GRCm39) N136S probably benign Het
Gm2663 A T 6: 40,974,891 (GRCm39) L60Q probably damaging Het
Hdac10 A G 15: 89,011,652 (GRCm39) F144S probably damaging Het
Ifi203 T C 1: 173,756,494 (GRCm39) T430A unknown Het
Itgb2l T C 16: 96,234,759 (GRCm39) D244G probably damaging Het
Klk1b9 A T 7: 43,628,841 (GRCm39) Y115F probably benign Het
Llcfc1 C A 6: 41,662,251 (GRCm39) A85E possibly damaging Het
Lrp1b C T 2: 40,527,872 (GRCm39) V4330M Het
Map3k13 A G 16: 21,744,187 (GRCm39) E811G probably benign Het
Myl6b A G 10: 128,333,068 (GRCm39) probably null Het
Myo15a G A 11: 60,400,836 (GRCm39) A2997T possibly damaging Het
Nalcn T C 14: 123,837,277 (GRCm39) D29G probably benign Het
Nepro T A 16: 44,550,078 (GRCm39) probably null Het
Nlrp1b T A 11: 71,072,482 (GRCm39) R454* probably null Het
Nlrp4a T C 7: 26,149,863 (GRCm39) V490A probably benign Het
Or1e1f G A 11: 73,856,257 (GRCm39) M274I probably benign Het
Or2l13 T C 16: 19,306,260 (GRCm39) V224A probably damaging Het
Pde8b T G 13: 95,223,349 (GRCm39) M197L probably benign Het
Phldb2 T A 16: 45,571,895 (GRCm39) K1166* probably null Het
Plekhm1 A G 11: 103,285,742 (GRCm39) I231T probably damaging Het
Ppp6r2 T C 15: 89,146,599 (GRCm39) I199T probably damaging Het
Ptch1 G T 13: 63,659,550 (GRCm39) H1368N probably benign Het
Ptprj T A 2: 90,274,790 (GRCm39) T1191S possibly damaging Het
Rapgef1 T C 2: 29,610,712 (GRCm39) S748P probably damaging Het
Rigi T C 4: 40,222,079 (GRCm39) D445G possibly damaging Het
Rnmt T C 18: 68,452,222 (GRCm39) S420P probably damaging Het
Sgms2 A G 3: 131,129,908 (GRCm39) F160S possibly damaging Het
Sim1 G T 10: 50,785,636 (GRCm39) R235L probably damaging Het
Slco1a7 A G 6: 141,690,178 (GRCm39) S192P probably damaging Het
Smarcad1 T A 6: 65,029,716 (GRCm39) D101E probably benign Het
Smarcc2 G A 10: 128,318,598 (GRCm39) V627M probably damaging Het
Supt20 G A 3: 54,635,832 (GRCm39) R241H unknown Het
Tagln2 T A 1: 172,333,386 (GRCm39) I80N probably damaging Het
Tmod2 G A 9: 75,489,167 (GRCm39) T226I possibly damaging Het
Vmn2r80 A T 10: 79,030,654 (GRCm39) I827F probably benign Het
Vmn2r96 T A 17: 18,817,989 (GRCm39) M714K possibly damaging Het
Vps8 C A 16: 21,278,526 (GRCm39) D261E probably damaging Het
Yeats2 C A 16: 19,972,939 (GRCm39) A31E probably damaging Het
Zfp451 C T 1: 33,816,405 (GRCm39) R515Q probably damaging Het
Zfp553 A G 7: 126,835,605 (GRCm39) S387G possibly damaging Het
Other mutations in Atf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Atf4 APN 15 80,140,728 (GRCm39) unclassified probably benign
IGL03001:Atf4 APN 15 80,140,858 (GRCm39) missense probably damaging 1.00
R0589:Atf4 UTSW 15 80,140,640 (GRCm39) missense probably damaging 1.00
R1758:Atf4 UTSW 15 80,141,414 (GRCm39) missense probably benign
R3982:Atf4 UTSW 15 80,141,069 (GRCm39) missense probably benign 0.06
R4700:Atf4 UTSW 15 80,141,618 (GRCm39) missense probably damaging 1.00
R4701:Atf4 UTSW 15 80,141,618 (GRCm39) missense probably damaging 1.00
R4941:Atf4 UTSW 15 80,140,434 (GRCm39) unclassified probably benign
R5706:Atf4 UTSW 15 80,140,531 (GRCm39) missense possibly damaging 0.83
R6086:Atf4 UTSW 15 80,141,654 (GRCm39) missense probably benign 0.14
R7147:Atf4 UTSW 15 80,141,500 (GRCm39) unclassified probably benign
X0063:Atf4 UTSW 15 80,141,086 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGTATGAGCCCAGAGTCCTACC -3'
(R):5'- CCTGACTACCCTATTACGGAACTC -3'

Sequencing Primer
(F):5'- GCTCTCCCCAGCATAGCC -3'
(R):5'- GACTACCCTATTACGGAACTCTCTTC -3'
Posted On 2019-05-15