Incidental Mutation 'IGL01635:Bag2'
ID 92948
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bag2
Ensembl Gene ENSMUSG00000042215
Gene Name BCL2-associated athanogene 2
Synonyms 2610042A13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # IGL01635
Quality Score
Status
Chromosome 1
Chromosomal Location 33784565-33796831 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 33786013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 103 (N103I)
Ref Sequence ENSEMBL: ENSMUSP00000042009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044691] [ENSMUST00000088287] [ENSMUST00000115174] [ENSMUST00000138024] [ENSMUST00000187602]
AlphaFold Q91YN9
PDB Structure Chaperone Complex [X-RAY DIFFRACTION]
Structure of the BNB domain of the Hsp70 cochaperone Bag2 [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000044691
AA Change: N103I

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042009
Gene: ENSMUSG00000042215
AA Change: N103I

DomainStartEndE-ValueType
coiled coil region 20 60 N/A INTRINSIC
BAG 109 189 4.18e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000088287
SMART Domains Protein: ENSMUSP00000085625
Gene: ENSMUSG00000004768

DomainStartEndE-ValueType
RAB 10 172 7.79e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115174
SMART Domains Protein: ENSMUSP00000110828
Gene: ENSMUSG00000004768

DomainStartEndE-ValueType
RAB 10 172 7.79e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138024
SMART Domains Protein: ENSMUSP00000137896
Gene: ENSMUSG00000004768

DomainStartEndE-ValueType
Pfam:Miro 11 59 1.9e-6 PFAM
Pfam:Ras 11 61 6.3e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155484
Predicted Effect probably benign
Transcript: ENSMUST00000187602
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195310
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The predicted BAG2 protein contains 211 amino acids. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A G 16: 8,431,910 (GRCm39) I396V probably benign Het
Cfap95 T C 19: 23,536,379 (GRCm39) Y176C probably damaging Het
Chd1 T C 17: 17,598,858 (GRCm39) S107P probably damaging Het
Chd3 A T 11: 69,252,076 (GRCm39) probably benign Het
Cytip T C 2: 58,038,243 (GRCm39) E106G probably damaging Het
Dcp1b T A 6: 119,183,498 (GRCm39) I195N probably damaging Het
Ddhd1 C A 14: 45,867,037 (GRCm39) V322F probably null Het
Esrrg A T 1: 187,930,797 (GRCm39) D296V probably damaging Het
F5 A G 1: 164,035,427 (GRCm39) K1867R probably benign Het
Gm10717 C A 9: 3,025,511 (GRCm39) A32D probably damaging Het
Gm10717 C A 9: 3,025,506 (GRCm39) F30L possibly damaging Het
Gstt1 G T 10: 75,629,951 (GRCm39) T54K probably damaging Het
Ighmbp2 C T 19: 3,317,265 (GRCm39) V536I possibly damaging Het
Mphosph8 A T 14: 56,910,003 (GRCm39) R119W probably damaging Het
Negr1 A G 3: 156,267,929 (GRCm39) D33G probably benign Het
Or2l13b A G 16: 19,348,845 (GRCm39) V275A probably benign Het
Or7d10 A T 9: 19,831,780 (GRCm39) I92L probably damaging Het
Plbd2 T C 5: 120,637,114 (GRCm39) D116G probably damaging Het
Pold1 A T 7: 44,185,401 (GRCm39) V733E probably damaging Het
Prorsd1 T A 11: 29,463,467 (GRCm39) K98N probably benign Het
Rasal2 G T 1: 156,991,394 (GRCm39) L611I probably damaging Het
Rffl G A 11: 82,703,378 (GRCm39) R147C probably benign Het
Rpl27rt A T 18: 34,870,795 (GRCm39) M110L probably benign Het
Sdad1 A G 5: 92,445,019 (GRCm39) M315T probably damaging Het
Shprh T A 10: 11,045,763 (GRCm39) Y861* probably null Het
Six4 G A 12: 73,155,971 (GRCm39) A324V probably benign Het
Stab2 T C 10: 86,816,992 (GRCm39) D135G probably benign Het
Tada3 T C 6: 113,352,973 (GRCm39) H12R probably benign Het
Zap70 A G 1: 36,810,238 (GRCm39) D116G probably damaging Het
Other mutations in Bag2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0568:Bag2 UTSW 1 33,786,059 (GRCm39) missense probably benign 0.01
R2144:Bag2 UTSW 1 33,785,912 (GRCm39) missense possibly damaging 0.87
R3712:Bag2 UTSW 1 33,785,997 (GRCm39) missense probably benign 0.11
R4663:Bag2 UTSW 1 33,786,074 (GRCm39) missense probably damaging 1.00
R4745:Bag2 UTSW 1 33,787,417 (GRCm39) splice site probably null
R4828:Bag2 UTSW 1 33,785,968 (GRCm39) missense probably damaging 0.99
R4859:Bag2 UTSW 1 33,786,022 (GRCm39) missense probably damaging 1.00
R4911:Bag2 UTSW 1 33,787,357 (GRCm39) missense probably benign
R5643:Bag2 UTSW 1 33,786,034 (GRCm39) missense probably damaging 0.99
R5644:Bag2 UTSW 1 33,786,034 (GRCm39) missense probably damaging 0.99
R6899:Bag2 UTSW 1 33,785,912 (GRCm39) missense possibly damaging 0.87
R8518:Bag2 UTSW 1 33,787,358 (GRCm39) missense probably benign
R9025:Bag2 UTSW 1 33,785,905 (GRCm39) missense
Posted On 2013-12-09