Incidental Mutation 'R0589:Atf4'
ID 55897
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 038779-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0589 (G1)
Quality Score 146
Status Validated
Chromosome 15
Chromosomal Location 80139385-80141742 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80140640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 47 (H47Q)
Ref Sequence ENSEMBL: ENSMUSP00000155806 (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 damaging
Transcript: ENSMUST00000109605
AA Change: H47Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105234
Gene: ENSMUSG00000042406
AA Change: H47Q

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 damaging
Transcript: ENSMUST00000229828
AA Change: H47Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229962
Predicted Effect probably benign
Transcript: ENSMUST00000230189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230434
Meta Mutation Damage Score 0.0680 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.1%
Validation Efficiency 98% (62/63)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,833,094 (GRCm39) A1202E probably damaging Het
Abcc12 A T 8: 87,287,101 (GRCm39) I155N possibly damaging Het
Atm T A 9: 53,401,492 (GRCm39) D1459V possibly damaging Het
Bicral A G 17: 47,112,522 (GRCm39) S893P probably benign Het
Camk2a G A 18: 61,097,036 (GRCm39) probably null Het
Cebpz G A 17: 79,244,308 (GRCm39) T51I probably damaging Het
Cers5 A T 15: 99,638,837 (GRCm39) D208E probably damaging Het
Cimip2b T C 4: 43,427,355 (GRCm39) probably benign Het
Cyp1a2 T C 9: 57,586,345 (GRCm39) D391G possibly damaging Het
Dct G T 14: 118,280,682 (GRCm39) F111L probably benign Het
Ddb1 T G 19: 10,599,080 (GRCm39) I529S probably benign Het
Dhx9 G T 1: 153,348,037 (GRCm39) Q361K probably damaging Het
Dnai3 A G 3: 145,768,086 (GRCm39) S592P probably benign Het
Erbin G T 13: 104,022,795 (GRCm39) R15S probably damaging Het
F13b T C 1: 139,434,671 (GRCm39) S146P possibly damaging Het
Ggnbp2 A T 11: 84,727,277 (GRCm39) C520S probably damaging Het
Gpx3 A G 11: 54,800,329 (GRCm39) I208V probably benign Het
Grk3 A G 5: 113,076,629 (GRCm39) probably benign Het
Heatr9 T C 11: 83,405,516 (GRCm39) probably benign Het
Heg1 T G 16: 33,552,077 (GRCm39) I762R probably damaging Het
Ints11 A T 4: 155,971,343 (GRCm39) T264S probably damaging Het
Ints14 T C 9: 64,887,113 (GRCm39) L348P probably damaging Het
Maco1 C A 4: 134,555,528 (GRCm39) C315F probably benign Het
Marf1 C A 16: 13,959,919 (GRCm39) probably benign Het
Med13 A G 11: 86,174,075 (GRCm39) Y1808H probably damaging Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Mrpl45 A T 11: 97,214,714 (GRCm39) T134S probably benign Het
Myh8 A G 11: 67,189,453 (GRCm39) I1210V probably benign Het
Nsd3 T C 8: 26,131,303 (GRCm39) S223P probably damaging Het
Or2j6 T G 7: 139,980,813 (GRCm39) S49R possibly damaging Het
Or4c115 A G 2: 88,927,606 (GRCm39) F222L probably benign Het
Or5be3 A T 2: 86,864,459 (GRCm39) Y35* probably null Het
P3h3 T A 6: 124,818,644 (GRCm39) E731D probably damaging Het
Pcdhac2 A G 18: 37,279,527 (GRCm39) R836G probably benign Het
Pdzd2 A G 15: 12,376,385 (GRCm39) V1250A probably benign Het
Pgbd1 G A 13: 21,618,600 (GRCm39) T19I possibly damaging Het
Phtf2 T A 5: 21,018,249 (GRCm39) R31* probably null Het
Plod2 T A 9: 92,475,799 (GRCm39) V294D probably benign Het
Rassf5 C T 1: 131,172,720 (GRCm39) G50R probably damaging Het
Rexo5 A G 7: 119,444,606 (GRCm39) T694A probably benign Het
Rtcb A C 10: 85,787,315 (GRCm39) S82A probably damaging Het
Rufy4 T C 1: 74,172,042 (GRCm39) L255P probably damaging Het
Slc35c1 A G 2: 92,284,859 (GRCm39) F252L probably damaging Het
Slco6d1 A T 1: 98,427,472 (GRCm39) probably benign Het
Sox10 T G 15: 79,047,485 (GRCm39) probably benign Het
Stard9 A G 2: 120,529,028 (GRCm39) M1762V probably benign Het
Stat3 A T 11: 100,798,909 (GRCm39) Y94N probably damaging Het
Tasor T C 14: 27,183,107 (GRCm39) I522T probably benign Het
Tecta T A 9: 42,256,930 (GRCm39) Y1582F probably benign Het
Tex44 A G 1: 86,355,453 (GRCm39) D454G probably damaging Het
Tle6 A G 10: 81,431,253 (GRCm39) probably benign Het
Tmod2 T C 9: 75,484,041 (GRCm39) E303G probably damaging Het
Trem1 A G 17: 48,544,245 (GRCm39) D90G possibly damaging Het
Trhde A T 10: 114,284,229 (GRCm39) D751E probably benign Het
Ttn A T 2: 76,795,589 (GRCm39) probably null Het
Vars2 T C 17: 35,970,068 (GRCm39) T774A 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
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
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'- GCTCTTCACGAAATCCAGCAGCAG -3'
(R):5'- GGTTCATGTCATATTCGGGAGGCAG -3'

Sequencing Primer
(F):5'- GATACCTTCGAGTTAAGCACATTCC -3'
(R):5'- TCATATTCGGGAGGCAGAAAGC -3'
Posted On 2013-07-11