Incidental Mutation 'R5706:Atf4'
ID 451993
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 043331-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5706 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 80139385-80141742 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80140531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 11 (V11A)
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 possibly damaging
Transcript: ENSMUST00000109605
AA Change: V11A

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105234
Gene: ENSMUSG00000042406
AA Change: V11A

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 possibly damaging
Transcript: ENSMUST00000229828
AA Change: V11A

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229962
Predicted Effect probably benign
Transcript: ENSMUST00000230189
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,847,910 (GRCm39) M77K probably benign Het
Amy1 A G 3: 113,349,769 (GRCm39) V467A probably damaging Het
B4galt1 T C 4: 40,807,268 (GRCm39) N373D probably damaging Het
Bpifa3 A G 2: 153,977,498 (GRCm39) K112R probably damaging Het
Chd2 T A 7: 73,141,105 (GRCm39) Y596F possibly damaging Het
Clspn T C 4: 126,472,211 (GRCm39) S962P probably damaging Het
Cyp2c68 T C 19: 39,722,762 (GRCm39) D262G possibly damaging Het
Dcaf11 T C 14: 55,803,152 (GRCm39) I282T probably damaging Het
Dmxl1 T C 18: 50,090,462 (GRCm39) probably null Het
Dnah11 T G 12: 117,987,670 (GRCm39) K2411Q probably damaging Het
Elf3 A G 1: 135,184,220 (GRCm39) V196A probably benign Het
Fhad1 T G 4: 141,681,427 (GRCm39) T538P probably damaging Het
Fkbp10 A G 11: 100,311,849 (GRCm39) D174G probably damaging Het
Gas6 A G 8: 13,527,098 (GRCm39) S217P probably damaging Het
Heatr5b C T 17: 79,074,304 (GRCm39) probably null Het
Iqgap3 A G 3: 88,023,215 (GRCm39) E502G probably benign Het
Klc1 T C 12: 111,762,061 (GRCm39) V577A possibly damaging Het
Lck T C 4: 129,445,431 (GRCm39) probably null Het
Mc3r C A 2: 172,091,610 (GRCm39) Y277* probably null Het
Mlxipl T C 5: 135,162,458 (GRCm39) V640A probably benign Het
Mrc2 A T 11: 105,223,169 (GRCm39) N471Y probably damaging Het
Ncan T A 8: 70,554,667 (GRCm39) H1050L probably damaging Het
Nrl C A 14: 55,759,889 (GRCm39) V13F probably damaging Het
Obscn T A 11: 58,967,082 (GRCm39) Y546F probably damaging Het
Or52u1 T G 7: 104,237,097 (GRCm39) S46A probably benign Het
Or6c209 A G 10: 129,483,960 (GRCm39) probably null Het
Or6d14 A G 6: 116,534,074 (GRCm39) I229M probably damaging Het
Pde3b G A 7: 114,120,927 (GRCm39) G684D probably damaging Het
Prkaa1 C T 15: 5,203,823 (GRCm39) T244I probably benign Het
Scfd2 A T 5: 74,367,059 (GRCm39) probably null Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Smg1 A T 7: 117,744,813 (GRCm39) V3113D possibly damaging Het
Sorbs1 T C 19: 40,365,325 (GRCm39) T153A probably benign Het
Spag16 A G 1: 69,909,448 (GRCm39) T182A probably benign Het
Spopfm1 T A 3: 94,173,959 (GRCm39) H322Q possibly damaging Het
Svs5 T C 2: 164,079,589 (GRCm39) K106R possibly damaging Het
Tenm1 A G X: 42,163,572 (GRCm39) V107A possibly damaging Het
Topaz1 A T 9: 122,628,550 (GRCm39) I1546F possibly damaging Het
Tubgcp2 C A 7: 139,612,138 (GRCm39) E78* probably null Het
Vars1 A G 17: 35,224,457 (GRCm39) probably null Het
Vmn2r109 A T 17: 20,774,567 (GRCm39) W263R probably benign 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
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'- CTTCTGGGATTTGGCCATCC -3'
(R):5'- GATCCATATGAAAAGGGCACAC -3'

Sequencing Primer
(F):5'- CCATCCGGCATCTTAGATAGAAAG -3'
(R):5'- ACCCTTGCCGGTGTCTGAG -3'
Posted On 2017-01-03