Incidental Mutation 'IGL03247:Gid4'
ID414431
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: 0.517) question?
Stock #IGL03247
Quality Score
Status
Chromosome11
Chromosomal Location60417145-60450927 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 60432343 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Asparagine at position 87 (T87N)
Ref Sequence ENSEMBL: ENSMUSP00000135441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070681] [ENSMUST00000139477]
Predicted Effect probably benign
Transcript: ENSMUST00000070681
AA Change: T87N

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000064926
Gene: ENSMUSG00000018415
AA Change: T87N

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: T87N

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000135441
Gene: ENSMUSG00000018415
AA Change: T87N

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 T A 14: 55,770,096 I926F probably damaging Het
Agap3 A G 5: 24,487,822 N418D probably damaging Het
Alms1 T C 6: 85,678,597 V3375A possibly damaging Het
Ankrd6 T A 4: 32,860,441 M1L possibly damaging Het
Aox4 A G 1: 58,264,367 D1188G probably damaging Het
Car2 T A 3: 14,887,939 L47Q probably damaging Het
Catsper2 A G 2: 121,410,200 V107A probably benign Het
Catsperg2 T C 7: 29,717,048 N313S possibly damaging Het
Dolk T C 2: 30,285,511 Y174C probably damaging Het
Erfe A G 1: 91,370,425 E219G probably benign Het
Ern2 T C 7: 122,171,671 E733G probably benign Het
Fam159a A T 4: 108,367,901 C155S probably benign Het
Fam228a A G 12: 4,737,734 F13S probably damaging Het
Fancd2 T C 6: 113,568,208 V829A probably benign Het
H2-Ob A G 17: 34,243,492 K152R probably benign Het
Ifna2 T A 4: 88,683,377 T135S probably benign Het
Il1rapl2 G A X: 138,789,680 G298D probably damaging Het
Mbd1 T A 18: 74,274,754 L174* probably null Het
Mga T A 2: 119,935,513 D1341E possibly damaging Het
Mmp12 T A 9: 7,348,631 M54K probably benign Het
Mphosph8 T A 14: 56,678,820 probably null Het
Mrps23 A G 11: 88,210,096 probably benign Het
Necab1 C T 4: 14,960,046 M300I probably benign Het
Nid2 G A 14: 19,779,620 D660N probably damaging Het
Olfr693 T A 7: 106,677,547 H313L probably benign Het
Olfr824 T A 10: 130,126,715 E114V probably damaging Het
P2ry13 A T 3: 59,209,592 V255D possibly damaging Het
Peak1 C T 9: 56,257,930 E905K probably damaging Het
Picalm C A 7: 90,194,291 Q550K probably benign Het
Rnf103 T A 6: 71,510,305 V640E possibly damaging Het
Sec31b T G 19: 44,518,940 K817N possibly damaging Het
Skint2 C A 4: 112,626,026 H209Q probably benign Het
Skint5 T C 4: 113,940,808 S193G probably damaging Het
Tacr3 A G 3: 134,930,091 probably benign Het
Tek A G 4: 94,865,443 M1041V possibly damaging Het
Tm4sf1 A G 3: 57,293,015 S89P possibly damaging Het
Tusc3 T A 8: 39,130,777 N299K possibly damaging Het
Washc4 T C 10: 83,564,463 S418P probably benign Het
Other mutations in Gid4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02793:Gid4 APN 11 60432430 missense probably benign 0.16
IGL02904:Gid4 APN 11 60417735 missense probably benign 0.18
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 On2016-08-02