Incidental Mutation 'R3982:Atf4'
ID 345322
Institutional Source Beutler Lab
Gene Symbol Atf4
Ensembl Gene ENSMUSG00000042406
Gene Name activating transcription factor 4
Synonyms Atf-4, CREB2, TAXREB67, C/ATF
MMRRC Submission 041608-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3982 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 80139385-80141742 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80141069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 153 (V153A)
Ref Sequence ENSEMBL: ENSMUSP00000105234 (fasta)
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
AA Change: V153A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105234
Gene: ENSMUSG00000042406
AA Change: V153A

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 noncoding transcript
Transcript: ENSMUST00000229962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230434
Predicted Effect probably benign
Transcript: ENSMUST00000230189
Meta Mutation Damage Score 0.0590 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (40/41)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,547,180 (GRCm39) probably null Het
Adgrg6 T C 10: 14,324,589 (GRCm39) N445S probably benign Het
Adgrl3 A G 5: 81,842,373 (GRCm39) T902A possibly damaging Het
Bsn T C 9: 107,984,365 (GRCm39) T3230A unknown Het
Cadps2 A G 6: 23,263,530 (GRCm39) probably benign Het
Clca3a1 T A 3: 144,461,070 (GRCm39) T194S probably benign Het
Cth A T 3: 157,619,334 (GRCm39) L163* probably null Het
Flnc G A 6: 29,442,940 (GRCm39) V492M probably damaging Het
Frmd6 T C 12: 70,934,608 (GRCm39) L269P probably damaging Het
Gpr62 G A 9: 106,342,085 (GRCm39) A281V probably benign Het
Hapln1 T A 13: 89,753,560 (GRCm39) F242Y probably benign Het
Ighv1-39 A T 12: 114,878,251 (GRCm39) S107T possibly damaging Het
Itga8 A G 2: 12,305,774 (GRCm39) V72A possibly damaging Het
Kcp A T 6: 29,484,636 (GRCm39) L1314Q probably damaging Het
Klre1 T A 6: 129,560,101 (GRCm39) C124* probably null Het
Lrrk2 T A 15: 91,593,487 (GRCm39) M482K probably benign Het
Man2b2 T C 5: 36,971,164 (GRCm39) N734S probably benign Het
Map3k20 C T 2: 72,268,571 (GRCm39) T526I probably damaging Het
Mdga1 C A 17: 30,150,238 (GRCm39) A125S unknown Het
Mmd2 T C 5: 142,550,554 (GRCm39) Y228C probably damaging Het
Mme T A 3: 63,235,485 (GRCm39) Y178N probably damaging Het
Nifk T A 1: 118,257,282 (GRCm39) S138R possibly damaging Het
Nlrp4b T C 7: 10,448,358 (GRCm39) V187A possibly damaging Het
Palmd T C 3: 116,717,472 (GRCm39) T342A probably benign Het
Pigo A T 4: 43,023,482 (GRCm39) S231T probably benign Het
Pik3cb G A 9: 98,928,654 (GRCm39) T867M probably benign Het
Plag1 A T 4: 3,904,055 (GRCm39) S379T probably damaging Het
Polg2 G A 11: 106,670,028 (GRCm39) R81* probably null Het
Prpf4b C T 13: 35,068,196 (GRCm39) probably benign Het
Ptprq T A 10: 107,379,257 (GRCm39) I1981F probably damaging Het
Thoc2l T C 5: 104,668,889 (GRCm39) V1137A probably benign Het
Usp24 G A 4: 106,245,080 (GRCm39) E1307K probably benign Het
Vmn2r115 T A 17: 23,578,948 (GRCm39) M807K probably damaging Het
Wee2 A T 6: 40,432,175 (GRCm39) N248I 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
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
R7149: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'- AAGAGTTTGACTTCGATGCTCTG -3'
(R):5'- TGGGCTCATACAGATGCCAC -3'

Sequencing Primer
(F):5'- CTGTTTCGAATGGATGACCTGGAAAC -3'
(R):5'- CAGATGCCACTGTCATTGTCAGAG -3'
Posted On 2015-09-25