Incidental Mutation 'IGL02793:Gid4'
ID359846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gid4
Ensembl Gene ENSMUSG00000018415
Gene NameGID complex subunit 4, VID24 homolog
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.569) question?
Stock #IGL02793
Quality Score
Status
Chromosome11
Chromosomal Location60417145-60450927 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 60432430 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 116 (R116Q)
Ref Sequence ENSEMBL: ENSMUSP00000135441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070681] [ENSMUST00000139477]
Predicted Effect probably benign
Transcript: ENSMUST00000070681
AA Change: R116Q

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000064926
Gene: ENSMUSG00000018415
AA Change: R116Q

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:Vac_ImportDeg 38 206 3.4e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139477
AA Change: R116Q

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000135441
Gene: ENSMUSG00000018415
AA Change: R116Q

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:Vac_ImportDeg 37 209 3.7e-70 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,291,949 I397V possibly damaging Het
Bco2 A T 9: 50,544,534 V173E probably damaging Het
Bdnf T C 2: 109,723,851 V150A probably damaging Het
Cdh15 T A 8: 122,860,982 V215E probably damaging Het
Col6a2 A T 10: 76,596,310 I1003N possibly damaging Het
Daam2 A C 17: 49,464,028 I887S probably damaging Het
Dnajb13 C T 7: 100,507,441 D143N probably damaging Het
Fabp3-ps1 T A 10: 86,732,079 probably benign Het
Hectd2 A G 19: 36,587,421 E34G probably damaging Het
Hyal6 A T 6: 24,734,379 K104* probably null Het
Il1b A G 2: 129,367,251 I153T probably benign Het
Kdm3b A G 18: 34,829,019 M1499V probably damaging Het
Kntc1 C A 5: 123,778,277 probably null Het
Lmbr1 A G 5: 29,292,188 S72P probably damaging Het
Lrrc2 T C 9: 110,979,627 probably null Het
Map2k5 T C 9: 63,257,039 I328V probably benign Het
Mphosph9 T A 5: 124,283,737 probably null Het
Mpp4 C T 1: 59,136,834 probably null Het
Ndrg3 A G 2: 156,950,032 probably null Het
Ndufa10 A C 1: 92,469,917 Y136D probably damaging Het
Olfr1245 T C 2: 89,575,552 Y58C probably damaging Het
Olfr1331 A T 4: 118,869,597 D271V probably damaging Het
Olfr1535 T A 13: 21,556,002 S7C probably damaging Het
Olfr954 A G 9: 39,461,506 E22G probably benign Het
Rab18 T C 18: 6,788,474 probably benign Het
Rad1 T C 15: 10,493,279 I264T probably benign Het
Rhbdf1 A G 11: 32,213,293 V393A possibly damaging Het
Rrp12 A G 19: 41,871,566 L1025P probably damaging Het
Rtca A G 3: 116,493,077 F302S probably damaging Het
Slc9b1 T A 3: 135,374,406 probably benign Het
Sspo A T 6: 48,487,894 probably benign Het
Ssrp1 T A 2: 85,040,920 I257N probably damaging Het
Sval2 A C 6: 41,861,861 Y11S probably benign Het
Tcl1b2 T C 12: 105,154,099 *118Q probably null Het
Thsd7b A G 1: 129,951,393 Y989C probably damaging Het
Tlr4 A C 4: 66,839,444 H158P probably damaging Het
Vmn2r42 T C 7: 8,194,853 T256A probably benign Het
Xdh T C 17: 73,900,581 E927G probably damaging Het
Yap1 T C 9: 7,973,906 N178S probably benign Het
Other mutations in Gid4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02904:Gid4 APN 11 60417735 missense probably benign 0.18
IGL03247:Gid4 APN 11 60432343 missense probably benign 0.03
R1125:Gid4 UTSW 11 60424781 missense possibly damaging 0.91
R2850:Gid4 UTSW 11 60438574 critical splice donor site probably null
R4326:Gid4 UTSW 11 60417836 missense possibly damaging 0.46
R5386:Gid4 UTSW 11 60432442 critical splice donor site probably null
R6173:Gid4 UTSW 11 60432415 missense probably damaging 1.00
R6880:Gid4 UTSW 11 60436435 missense probably damaging 1.00
R8082:Gid4 UTSW 11 60436447 missense probably damaging 1.00
Posted On2015-12-18