Incidental Mutation 'IGL02904:Gid4'
ID363754
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 #IGL02904
Quality Score
Status
Chromosome11
Chromosomal Location60417145-60450927 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 60417735 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 27 (I27T)
Ref Sequence ENSEMBL: ENSMUSP00000135441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070681] [ENSMUST00000108721] [ENSMUST00000139477] [ENSMUST00000145532]
Predicted Effect probably benign
Transcript: ENSMUST00000070681
AA Change: I27T

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000064926
Gene: ENSMUSG00000018415
AA Change: I27T

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:Vac_ImportDeg 38 206 3.4e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108721
SMART Domains Protein: ENSMUSP00000104361
Gene: ENSMUSG00000042709

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
Pfam:ATP12 56 177 7.9e-43 PFAM
low complexity region 227 237 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138696
Predicted Effect probably benign
Transcript: ENSMUST00000139477
AA Change: I27T

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000135441
Gene: ENSMUSG00000018415
AA Change: I27T

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:Vac_ImportDeg 37 209 3.7e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141987
Predicted Effect probably benign
Transcript: ENSMUST00000145532
SMART Domains Protein: ENSMUSP00000135761
Gene: ENSMUSG00000042709

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
Pfam:ATP12 56 154 9.3e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156966
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,484,454 S564P probably damaging Het
A1cf A C 19: 31,934,806 K432N probably damaging Het
Acp7 A T 7: 28,608,003 D476E probably benign Het
Aqp9 T A 9: 71,138,148 I60F probably damaging Het
B2m A C 2: 122,151,161 probably benign Het
B3galt1 T A 2: 68,118,745 V268E probably damaging Het
BC037034 C T 5: 138,260,602 V232I probably benign Het
Cacna1a T C 8: 84,579,520 L1299P probably damaging Het
Ces2e C T 8: 104,931,338 P356L probably benign Het
Crmp1 A T 5: 37,288,918 K639N possibly damaging Het
Ddx17 G A 15: 79,530,437 R510* probably null Het
Dner C T 1: 84,534,944 V301M probably damaging Het
Efr3b T G 12: 3,984,583 I196L probably damaging Het
Fat1 T C 8: 45,040,682 V3955A probably damaging Het
Glis3 A G 19: 28,357,952 F571L possibly damaging Het
Gm4950 T C 18: 51,865,731 I51V probably benign Het
Gm5592 T C 7: 41,288,386 L364P probably damaging Het
Gm884 A C 11: 103,616,361 probably benign Het
Gucy2d G A 7: 98,462,189 probably null Het
Kpna6 A G 4: 129,650,687 I411T probably benign Het
Lcn11 A G 2: 25,779,266 D145G probably null Het
Med12 A G X: 101,294,178 probably null Het
Mtor A G 4: 148,452,394 K42E possibly damaging Het
Mtor A G 4: 148,491,612 probably benign Het
Mybpc2 T C 7: 44,522,341 D55G probably benign Het
Myo1f T A 17: 33,585,658 C445* probably null Het
Naca C T 10: 128,043,290 probably benign Het
Nlgn2 T C 11: 69,825,840 Y625C possibly damaging Het
Nlrp9c A T 7: 26,375,290 C827S probably damaging Het
Nudt12 T A 17: 59,010,352 N100I probably benign Het
Olfr1009 T C 2: 85,721,755 S117P probably damaging Het
Olfr224 T A 11: 58,566,797 T183S possibly damaging Het
Olfr284 A T 15: 98,340,848 L31Q probably null Het
Olfr77 A T 9: 19,921,097 D296V probably damaging Het
Picalm G A 7: 90,176,411 probably benign Het
Pkd1l1 A G 11: 8,868,450 probably benign Het
Scube3 T C 17: 28,167,600 V831A probably benign Het
Slco5a1 A G 1: 12,921,097 I456T probably damaging Het
Snx3 A G 10: 42,534,694 H110R probably damaging Het
Spef2 T C 15: 9,679,346 D635G probably damaging Het
St3gal5 A T 6: 72,147,124 I212L possibly damaging Het
Syvn1 T A 19: 6,049,815 Y192* probably null Het
Tmem2 G A 19: 21,823,843 D775N possibly damaging Het
Tmtc1 A G 6: 148,249,482 probably benign Het
Trip11 T G 12: 101,886,838 E499D probably damaging Het
Ttn A T 2: 76,732,031 N28823K probably damaging Het
Unc13c C A 9: 73,481,067 G2146* probably null Het
Ush2a G T 1: 188,906,506 V4038L probably benign Het
Zc3h7a T G 16: 11,150,666 D483A probably damaging Het
Zfyve19 T C 2: 119,210,472 probably benign Het
Other mutations in Gid4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02793:Gid4 APN 11 60432430 missense probably benign 0.16
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