Incidental Mutation 'R5386:Gid4'
ID 425249
Institutional Source Beutler Lab
Gene Symbol Gid4
Ensembl Gene ENSMUSG00000018415
Gene Name GID complex subunit 4, VID24 homolog
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.400) question?
Stock # R5386 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 60417145-60450927 bp(+) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 60432442 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000064926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070681] [ENSMUST00000139477]
AlphaFold Q9CPY6
Predicted Effect probably null
Transcript: ENSMUST00000070681
SMART Domains Protein: ENSMUSP00000064926
Gene: ENSMUSG00000018415

low complexity region 8 20 N/A INTRINSIC
Pfam:Vac_ImportDeg 38 206 3.4e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139477
SMART Domains Protein: ENSMUSP00000135441
Gene: ENSMUSG00000018415

low complexity region 8 20 N/A INTRINSIC
Pfam:Vac_ImportDeg 37 209 3.7e-70 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 134 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G A 15: 8,194,413 (GRCm38) G887R probably damaging Het
4931406P16Rik A G 7: 34,242,388 (GRCm38) F120L probably damaging Het
Abcc12 T G 8: 86,517,489 (GRCm38) K1012Q possibly damaging Het
Afmid G A 11: 117,828,142 (GRCm38) G33R probably benign Het
Agbl3 G T 6: 34,799,196 (GRCm38) W207C probably damaging Het
Ajuba T C 14: 54,570,398 (GRCm38) Y459C probably damaging Het
Ak2 T C 4: 129,008,172 (GRCm38) S213P probably benign Het
Alk T A 17: 71,875,012 (GRCm38) N1339Y probably damaging Het
Angpt1 T C 15: 42,438,365 (GRCm38) S416G probably damaging Het
Ank2 C T 3: 126,981,933 (GRCm38) V854M probably benign Het
Ankrd61 G T 5: 143,891,664 (GRCm38) N122K possibly damaging Het
Armc9 T A 1: 86,198,289 (GRCm38) L34Q probably null Het
Aspg T A 12: 112,123,032 (GRCm38) V418E probably benign Het
Baz1b C T 5: 135,238,059 (GRCm38) R1241C probably damaging Het
Bclaf1 T C 10: 20,325,592 (GRCm38) V201A possibly damaging Het
C1ql3 A T 2: 13,004,358 (GRCm38) D225E probably damaging Het
Capn9 A G 8: 124,605,540 (GRCm38) T417A possibly damaging Het
Card14 C T 11: 119,317,289 (GRCm38) R62C probably damaging Het
Cc2d2a A G 5: 43,730,041 (GRCm38) N1271S probably benign Het
Ccpg1 G A 9: 73,013,044 (GRCm38) S647N probably benign Het
Cdv3 T C 9: 103,355,230 (GRCm38) K133R possibly damaging Het
Cep128 A C 12: 90,999,571 (GRCm38) S1087R probably benign Het
Cep70 T A 9: 99,281,075 (GRCm38) L325Q probably damaging Het
Chit1 T G 1: 134,149,454 (GRCm38) F332V probably damaging Het
Chodl C A 16: 78,946,697 (GRCm38) T219K probably damaging Het
Cntn4 T C 6: 106,181,804 (GRCm38) L10P possibly damaging Het
Copg1 G T 6: 87,890,207 (GRCm38) M87I possibly damaging Het
Cyp3a59 A G 5: 146,085,768 (GRCm38) Y28C probably benign Het
Dchs1 A C 7: 105,758,029 (GRCm38) V2119G probably damaging Het
Dedd T C 1: 171,338,383 (GRCm38) L23P probably damaging Het
Dmxl2 A G 9: 54,378,757 (GRCm38) S2715P probably benign Het
Dnah9 T C 11: 66,029,356 (GRCm38) N2237S probably damaging Het
Drosha A G 15: 12,842,121 (GRCm38) I337V probably benign Het
Duox2 A G 2: 122,295,136 (GRCm38) V330A probably benign Het
Dusp11 T C 6: 85,947,605 (GRCm38) *322W probably null Het
Dusp8 T A 7: 142,089,993 (GRCm38) Q61L possibly damaging Het
Ears2 G C 7: 122,044,377 (GRCm38) T426S probably benign Het
Elmo1 T C 13: 20,600,210 (GRCm38) Y646H probably benign Het
Eps15 T A 4: 109,321,225 (GRCm38) I220K possibly damaging Het
Faap100 T A 11: 120,377,632 (GRCm38) E105V possibly damaging Het
Fam171a2 C A 11: 102,437,867 (GRCm38) V689L possibly damaging Het
Fam213b T A 4: 154,899,005 (GRCm38) M1L probably benign Het
Fam91a1 G A 15: 58,448,394 (GRCm38) S645N probably benign Het
Fancg G A 4: 43,007,076 (GRCm38) Q234* probably null Het
Gm14085 C A 2: 122,522,778 (GRCm38) L480I probably benign Het
Gm7361 A C 5: 26,258,905 (GRCm38) T53P probably benign Het
Golgb1 T A 16: 36,912,315 (GRCm38) C641* probably null Het
Gon4l T A 3: 88,858,496 (GRCm38) M409K probably benign Het
Gpatch8 A T 11: 102,508,227 (GRCm38) probably null Het
Gpr156 T A 16: 37,948,309 (GRCm38) V64E possibly damaging Het
Grid2 T A 6: 63,931,105 (GRCm38) I243K probably damaging Het
Gucy2g G A 19: 55,215,116 (GRCm38) A750V probably damaging Het
Hdac5 T C 11: 102,202,141 (GRCm38) E590G possibly damaging Het
Herc3 T A 6: 58,874,278 (GRCm38) M504K probably damaging Het
Hif1a A G 12: 73,944,093 (GRCm38) E713G probably benign Het
Hmx3 A G 7: 131,544,304 (GRCm38) D247G probably damaging Het
Hoxd11 G T 2: 74,682,819 (GRCm38) E143* probably null Het
Ifitm3 T C 7: 141,010,641 (GRCm38) N2S probably benign Het
Il17f T C 1: 20,777,957 (GRCm38) Q99R probably benign Het
Itga6 T A 2: 71,841,150 (GRCm38) S341R probably damaging Het
Itgam A G 7: 128,107,980 (GRCm38) N661S probably benign Het
Jag1 A T 2: 137,095,544 (GRCm38) H303Q possibly damaging Het
Kcnh8 T A 17: 52,725,995 (GRCm38) N103K probably benign Het
Kdm6b T C 11: 69,400,810 (GRCm38) probably benign Het
Keg1 A C 19: 12,714,538 (GRCm38) N63T probably damaging Het
Klf12 T A 14: 99,900,159 (GRCm38) H317L probably damaging Het
Lrp1 A T 10: 127,592,114 (GRCm38) V530E probably damaging Het
Mrgpra6 A G 7: 47,188,881 (GRCm38) C190R probably damaging Het
Myo1a G T 10: 127,705,897 (GRCm38) E102* probably null Het
Napa A T 7: 16,116,472 (GRCm38) E265D probably benign Het
Ncam1 A C 9: 49,564,874 (GRCm38) V305G probably damaging Het
Nek8 T C 11: 78,170,437 (GRCm38) probably null Het
Olfr1115 C T 2: 87,252,483 (GRCm38) P182L probably benign Het
Olfr1242 G T 2: 89,494,137 (GRCm38) Y58* probably null Het
Olfr1275 T C 2: 111,231,194 (GRCm38) T200A probably benign Het
Olfr191 T A 16: 59,085,890 (GRCm38) M198L probably benign Het
Olfr243 T C 7: 103,717,355 (GRCm38) F254L probably benign Het
Olfr251 A T 9: 38,377,985 (GRCm38) I29F probably benign Het
Olfr739 T A 14: 50,425,389 (GRCm38) V290E possibly damaging Het
Olfr971 A G 9: 39,839,830 (GRCm38) Y132C possibly damaging Het
Olfr987 T C 2: 85,331,635 (GRCm38) T88A probably benign Het
Pabpc4 A G 4: 123,294,997 (GRCm38) Q417R probably benign Het
Panx3 A T 9: 37,669,024 (GRCm38) M11K probably damaging Het
Pcbp1 C T 6: 86,525,489 (GRCm38) E143K probably damaging Het
Pdcd7 G A 9: 65,358,692 (GRCm38) W477* probably null Het
Pi4k2a G A 19: 42,090,515 (GRCm38) S5N probably damaging Het
Plag1 T A 4: 3,904,075 (GRCm38) Q372L probably benign Het
Plce1 C A 19: 38,760,091 (GRCm38) N1755K probably damaging Het
Pld4 G T 12: 112,763,988 (GRCm38) E102* probably null Het
Pnlip A G 19: 58,679,607 (GRCm38) N345S probably benign Het
Ppm1e A T 11: 87,358,551 (GRCm38) L118Q possibly damaging Het
Prkra T G 2: 76,639,278 (GRCm38) T146P probably damaging Het
Prpf8 A G 11: 75,495,799 (GRCm38) D1038G probably damaging Het
Prss51 T A 14: 64,097,094 (GRCm38) V108E probably damaging Het
Ptch1 A G 13: 63,545,043 (GRCm38) Y181H probably damaging Het
Reln A G 5: 22,039,529 (GRCm38) V817A probably benign Het
Rictor C A 15: 6,789,504 (GRCm38) Q1403K probably benign Het
Rims1 T A 1: 22,412,245 (GRCm38) I882F probably damaging Het
Rnf19a A G 15: 36,242,039 (GRCm38) V618A probably benign Het
Ryr1 A T 7: 29,117,416 (GRCm38) I65N probably damaging Het
S1pr2 T C 9: 20,967,594 (GRCm38) T313A probably benign Het
Serpine2 A T 1: 79,821,287 (GRCm38) Y83* probably null Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,153,384 (GRCm38) probably benign Het
Sgip1 T C 4: 102,915,059 (GRCm38) V215A probably benign Het
Sgsm3 T C 15: 81,007,999 (GRCm38) V256A probably benign Het
Shroom4 T A X: 6,585,469 (GRCm38) C894* probably null Het
Slc14a2 T A 18: 78,185,840 (GRCm38) D306V possibly damaging Het
Slc4a10 A T 2: 62,290,058 (GRCm38) E843V probably damaging Het
Smyd4 T A 11: 75,390,156 (GRCm38) C152S probably damaging Het
Snx10 T C 6: 51,575,972 (GRCm38) Y32H probably damaging Het
Sorl1 T C 9: 42,057,284 (GRCm38) T558A possibly damaging Het
Spata31d1b G A 13: 59,719,052 (GRCm38) C1338Y possibly damaging Het
Sppl2c T A 11: 104,187,301 (GRCm38) I309K possibly damaging Het
Stard9 A G 2: 120,700,630 (GRCm38) E2456G probably damaging Het
Stx1b A T 7: 127,815,403 (GRCm38) D16E probably benign Het
Tecpr2 T C 12: 110,915,453 (GRCm38) V152A probably damaging Het
Tedc1 T C 12: 113,156,682 (GRCm38) V47A probably benign Het
Tep1 A T 14: 50,868,317 (GRCm38) L82Q probably damaging Het
Tgm4 A G 9: 123,056,494 (GRCm38) Y367C probably damaging Het
Tle1 C T 4: 72,141,844 (GRCm38) V258M probably damaging Het
Tm9sf1 C T 14: 55,642,844 (GRCm38) G32D possibly damaging Het
Tmco2 A G 4: 121,105,984 (GRCm38) L106P probably damaging Het
Tmem131 A T 1: 36,872,558 (GRCm38) C103S possibly damaging Het
Tmprss7 T A 16: 45,669,528 (GRCm38) I444F possibly damaging Het
Trank1 T C 9: 111,362,402 (GRCm38) V493A probably benign Het
Trim80 A T 11: 115,448,017 (GRCm38) T558S probably benign Het
Trmt6 C A 2: 132,808,783 (GRCm38) A302S probably benign Het
Ttc17 A T 2: 94,303,640 (GRCm38) W1067R probably damaging Het
Tulp4 T A 17: 6,236,293 (GRCm38) V1532D probably damaging Het
Ubqlnl T G 7: 104,149,217 (GRCm38) I358L probably benign Het
Ulk3 T A 9: 57,590,740 (GRCm38) I108N possibly damaging Het
Vps13b A T 15: 35,640,528 (GRCm38) probably null Het
Vwa3a A G 7: 120,790,142 (GRCm38) K68E possibly damaging Het
Zfp746 G T 6: 48,064,176 (GRCm38) H538N possibly damaging Het
Other mutations in Gid4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02793:Gid4 APN 11 60,432,430 (GRCm38) missense probably benign 0.16
IGL02904:Gid4 APN 11 60,417,735 (GRCm38) missense probably benign 0.18
IGL03247:Gid4 APN 11 60,432,343 (GRCm38) missense probably benign 0.03
R1125:Gid4 UTSW 11 60,424,781 (GRCm38) missense possibly damaging 0.91
R2850:Gid4 UTSW 11 60,438,574 (GRCm38) critical splice donor site probably null
R4326:Gid4 UTSW 11 60,417,836 (GRCm38) missense possibly damaging 0.46
R6173:Gid4 UTSW 11 60,432,415 (GRCm38) missense probably damaging 1.00
R6880:Gid4 UTSW 11 60,436,435 (GRCm38) missense probably damaging 1.00
R8082:Gid4 UTSW 11 60,436,447 (GRCm38) missense probably damaging 1.00
R9204:Gid4 UTSW 11 60,417,828 (GRCm38) missense probably benign 0.09
R9354:Gid4 UTSW 11 60,417,792 (GRCm38) missense probably benign 0.05
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-08-04