Incidental Mutation 'IGL02378:Med19'
ID291240
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med19
Ensembl Gene ENSMUSG00000027080
Gene Namemediator complex subunit 19
SynonymsLCMR1, 3110040A13Rik, 2410018M14Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.937) question?
Stock #IGL02378
Quality Score
Status
Chromosome2
Chromosomal Location84678402-84688215 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84685281 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 103 (E103G)
Ref Sequence ENSEMBL: ENSMUSP00000099705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035840] [ENSMUST00000102645]
Predicted Effect probably benign
Transcript: ENSMUST00000035840
SMART Domains Protein: ENSMUSP00000048198
Gene: ENSMUSG00000034075

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
Pfam:zf-DHHC 99 224 1.6e-37 PFAM
low complexity region 312 318 N/A INTRINSIC
low complexity region 359 373 N/A INTRINSIC
low complexity region 422 432 N/A INTRINSIC
low complexity region 581 597 N/A INTRINSIC
low complexity region 679 695 N/A INTRINSIC
low complexity region 698 708 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102645
AA Change: E103G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099705
Gene: ENSMUSG00000027080
AA Change: E103G

DomainStartEndE-ValueType
low complexity region 24 55 N/A INTRINSIC
Pfam:Med19 63 234 4e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141595
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the Mediator complex, which binds to gene-specific regulatory factors and provides support for the basal RNA polymerase II transcription machinery. This gene has been implicated in the growth of several types of cancer, and inhibition of its expression inhibits the growth and spread of these cancers. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G A 11: 72,189,598 T414I probably benign Het
Abca8a A G 11: 110,078,815 probably benign Het
Acer2 A T 4: 86,886,254 T69S probably benign Het
Adcy2 A G 13: 68,730,292 V409A probably damaging Het
Anks3 T A 16: 4,950,762 Y239F possibly damaging Het
Arhgap42 G A 9: 9,035,583 H253Y possibly damaging Het
Asb18 A T 1: 89,992,988 L189Q probably damaging Het
C3 T C 17: 57,212,698 R1185G probably benign Het
Cdca7l T A 12: 117,872,127 V66E possibly damaging Het
Cdrt4 G T 11: 62,992,708 E79* probably null Het
Cep57 A C 9: 13,821,546 Y34* probably null Het
Cep63 A T 9: 102,596,115 probably benign Het
Clip4 T A 17: 71,837,726 I516K possibly damaging Het
Dnah10 A G 5: 124,773,067 E1551G probably damaging Het
Dysf T C 6: 84,111,905 I843T probably damaging Het
Gabra1 C A 11: 42,140,255 V283F probably damaging Het
Hcfc2 T C 10: 82,709,071 I179T possibly damaging Het
Htr2c G A X: 147,193,759 probably benign Het
Irgc1 G A 7: 24,432,075 T439I probably benign Het
Itgae T A 11: 73,118,121 L476H probably benign Het
Jarid2 A C 13: 44,914,325 K1070T probably damaging Het
Lama2 A G 10: 27,043,656 I2193T probably damaging Het
Nav1 C T 1: 135,469,978 D818N probably benign Het
Nom1 G T 5: 29,451,126 E830* probably null Het
Olfr1450 A C 19: 12,954,383 S265R probably benign Het
Olfr980 T G 9: 40,006,473 T159P probably damaging Het
Orai3 G T 7: 127,770,161 R58L probably damaging Het
Osbpl8 T A 10: 111,282,145 M583K possibly damaging Het
Pik3cb A T 9: 99,062,840 M624K probably benign Het
Rars2 G A 4: 34,656,199 R451H possibly damaging Het
Rgs22 A G 15: 36,103,805 L170P probably benign Het
Rps6kl1 C A 12: 85,138,674 D417Y probably damaging Het
Senp6 A G 9: 80,126,392 D106G probably damaging Het
Setx C T 2: 29,173,726 probably benign Het
Sfswap T A 5: 129,539,604 Y371N probably damaging Het
Slc24a3 C T 2: 145,518,402 R141C possibly damaging Het
Sorcs1 C T 19: 50,182,671 W926* probably null Het
Steap4 A G 5: 7,976,741 T235A probably benign Het
Tead2 T A 7: 45,218,147 probably null Het
Tll1 A T 8: 64,017,626 L921* probably null Het
Tnfrsf19 T A 14: 60,971,002 T357S probably benign Het
Tnik C A 3: 28,638,459 S825* probably null Het
Vil1 T A 1: 74,430,691 probably null Het
Vmn2r106 T C 17: 20,277,529 K483E probably damaging Het
Vwa5a G A 9: 38,733,970 M450I probably benign Het
Xirp2 C T 2: 67,513,768 P2118S probably benign Het
Other mutations in Med19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02148:Med19 APN 2 84685259 missense probably damaging 1.00
IGL02175:Med19 APN 2 84678663 critical splice donor site probably null
R0965:Med19 UTSW 2 84678449 missense probably damaging 0.96
R1935:Med19 UTSW 2 84685658 missense possibly damaging 0.73
R2316:Med19 UTSW 2 84686243 missense probably benign 0.15
R7857:Med19 UTSW 2 84685625 missense probably damaging 1.00
R7940:Med19 UTSW 2 84685625 missense probably damaging 1.00
Posted On2015-04-16