Incidental Mutation 'IGL01396:Ier5'
ID 79438
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ier5
Ensembl Gene ENSMUSG00000056708
Gene Name immediate early response 5
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.265) question?
Stock # IGL01396
Quality Score
Status
Chromosome 1
Chromosomal Location 154972113-154975382 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 154974296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 294 (V294A)
Ref Sequence ENSEMBL: ENSMUSP00000056948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055322]
AlphaFold O89113
Predicted Effect probably damaging
Transcript: ENSMUST00000055322
AA Change: V294A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000056948
Gene: ENSMUSG00000056708
AA Change: V294A

DomainStartEndE-ValueType
Pfam:IER 1 211 6.2e-51 PFAM
Pfam:IER 210 308 9.8e-28 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is similar to other immediate early response proteins. In the mouse, a similar gene may play an important role in mediating the cellular response to mitogenic signals. Studies in rats found the expression of a similar gene to be increased after waking and sleep deprivation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,120,649 (GRCm39) Y469N probably benign Het
Actl11 T C 9: 107,805,964 (GRCm39) S96P possibly damaging Het
Ankrd13b T A 11: 77,363,198 (GRCm39) probably null Het
Apobec4 T A 1: 152,632,017 (GRCm39) I15K probably damaging Het
Arhgef28 G T 13: 98,090,401 (GRCm39) D1039E probably damaging Het
Atp1a1 C T 3: 101,498,769 (GRCm39) G175R probably damaging Het
AU040320 T A 4: 126,763,171 (GRCm39) probably benign Het
Bcl9l G A 9: 44,418,121 (GRCm39) R653H probably damaging Het
Ccdc141 T A 2: 76,958,669 (GRCm39) I144L possibly damaging Het
Cdh20 C T 1: 104,875,154 (GRCm39) T312I possibly damaging Het
Cdh23 C T 10: 60,220,848 (GRCm39) V1297I possibly damaging Het
Cfap57 T C 4: 118,467,792 (GRCm39) Y315C probably damaging Het
Chd8 A G 14: 52,442,044 (GRCm39) probably benign Het
Cog5 A G 12: 31,944,095 (GRCm39) D660G probably benign Het
Cps1 T C 1: 67,196,945 (GRCm39) I332T probably damaging Het
Csgalnact2 T C 6: 118,103,288 (GRCm39) T225A probably damaging Het
Dchs1 A G 7: 105,421,490 (GRCm39) L310P probably damaging Het
Dgki T C 6: 36,977,025 (GRCm39) N695S probably damaging Het
Gas7 T A 11: 67,543,740 (GRCm39) probably null Het
Gm21286 T C 4: 60,794,323 (GRCm39) noncoding transcript Het
Gm4799 C T 10: 82,790,518 (GRCm39) noncoding transcript Het
Hdac4 T C 1: 91,887,196 (GRCm39) probably benign Het
Hif1a T A 12: 73,987,307 (GRCm39) S467T probably benign Het
Ifna11 T C 4: 88,738,314 (GRCm39) V40A probably benign Het
Itga9 T C 9: 118,436,191 (GRCm39) probably benign Het
Lbx1 G T 19: 45,222,670 (GRCm39) Q118K probably benign Het
Lta A T 17: 35,423,061 (GRCm39) probably null Het
Matr3 A G 18: 35,721,442 (GRCm39) Y471C probably damaging Het
Nrg2 A T 18: 36,178,905 (GRCm39) probably benign Het
Or4c103 C T 2: 88,513,575 (GRCm39) C167Y probably damaging Het
Or4k51 T C 2: 111,584,848 (GRCm39) F85L probably benign Het
Or4k51 T A 2: 111,584,948 (GRCm39) M118K probably damaging Het
Or5l13 G T 2: 87,780,207 (GRCm39) F123L probably damaging Het
Patl1 A G 19: 11,901,247 (GRCm39) K299R probably damaging Het
Pdgfrb A G 18: 61,205,736 (GRCm39) E574G probably damaging Het
Phf3 G A 1: 30,843,386 (GRCm39) Q1858* probably null Het
Prkca T C 11: 107,905,148 (GRCm39) K197E possibly damaging Het
Psmc6 C A 14: 45,581,124 (GRCm39) Q307K probably benign Het
Rasa1 T C 13: 85,406,561 (GRCm39) I181V probably benign Het
Scel A G 14: 103,845,530 (GRCm39) probably benign Het
Scn5a A T 9: 119,363,770 (GRCm39) S457T probably damaging Het
Sesn3 A G 9: 14,232,374 (GRCm39) T216A probably benign Het
Slc25a21 A G 12: 57,205,974 (GRCm39) V19A probably benign Het
Slc34a1 A G 13: 55,550,546 (GRCm39) T81A probably damaging Het
Slc35a5 A G 16: 44,971,866 (GRCm39) Y117H probably damaging Het
Sptbn4 A G 7: 27,114,196 (GRCm39) V569A probably benign Het
Sqle A G 15: 59,195,723 (GRCm39) Y333C probably damaging Het
Svep1 T C 4: 58,068,552 (GRCm39) E3078G possibly damaging Het
Tacc2 T A 7: 130,360,919 (GRCm39) I2737N probably damaging Het
Tet3 A T 6: 83,346,620 (GRCm39) Y1272* probably null Het
Tnr G T 1: 159,724,594 (GRCm39) R1095L possibly damaging Het
Vmn1r184 T C 7: 25,966,862 (GRCm39) S203P probably damaging Het
Vmn2r94 A G 17: 18,477,301 (GRCm39) L370P probably damaging Het
Xrcc5 A G 1: 72,393,404 (GRCm39) H559R probably benign Het
Other mutations in Ier5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01093:Ier5 APN 1 154,975,139 (GRCm39) missense probably damaging 1.00
R2174:Ier5 UTSW 1 154,974,599 (GRCm39) missense possibly damaging 0.92
R5028:Ier5 UTSW 1 154,974,849 (GRCm39) missense possibly damaging 0.65
R5651:Ier5 UTSW 1 154,974,491 (GRCm39) missense possibly damaging 0.68
R7378:Ier5 UTSW 1 154,974,438 (GRCm39) missense probably damaging 1.00
R8037:Ier5 UTSW 1 154,975,175 (GRCm39) start codon destroyed probably null 0.99
R8431:Ier5 UTSW 1 154,974,306 (GRCm39) missense probably benign 0.01
R8809:Ier5 UTSW 1 154,974,716 (GRCm39) missense probably benign 0.03
R9074:Ier5 UTSW 1 154,974,275 (GRCm39) missense probably damaging 1.00
X0065:Ier5 UTSW 1 154,975,061 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05