Incidental Mutation 'IGL01731:Med13l'
ID105485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Med13l
Ensembl Gene ENSMUSG00000018076
Gene Namemediator complex subunit 13-like
Synonyms9030618F05Rik, Thrap2, 6330591G05Rik, 2210413I17Rik, Trap240L
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.960) question?
Stock #IGL01731
Quality Score
Status
Chromosome5
Chromosomal Location118560679-118765438 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 118742407 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 1188 (I1188T)
Ref Sequence ENSEMBL: ENSMUSP00000144092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100816] [ENSMUST00000201010]
Predicted Effect probably benign
Transcript: ENSMUST00000100816
AA Change: I1188T

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000098379
Gene: ENSMUSG00000018076
AA Change: I1188T

DomainStartEndE-ValueType
Pfam:Med13_N 1 380 2.5e-116 PFAM
low complexity region 442 460 N/A INTRINSIC
low complexity region 542 558 N/A INTRINSIC
low complexity region 1020 1031 N/A INTRINSIC
low complexity region 1044 1060 N/A INTRINSIC
low complexity region 1541 1593 N/A INTRINSIC
low complexity region 1601 1611 N/A INTRINSIC
Pfam:Med13_C 1675 2197 1e-142 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201010
AA Change: I1188T

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000144092
Gene: ENSMUSG00000018076
AA Change: I1188T

DomainStartEndE-ValueType
Pfam:Med13_N 1 380 1e-112 PFAM
low complexity region 442 460 N/A INTRINSIC
low complexity region 542 558 N/A INTRINSIC
low complexity region 1020 1031 N/A INTRINSIC
low complexity region 1044 1060 N/A INTRINSIC
low complexity region 1541 1593 N/A INTRINSIC
low complexity region 1601 1611 N/A INTRINSIC
Pfam:Med13_C 1675 2206 1.7e-138 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202538
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, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430093F15Rik T A 19: 10,785,347 probably benign Het
Abca13 T C 11: 9,249,749 probably benign Het
Abcc6 G A 7: 46,002,610 P611L possibly damaging Het
Acsl6 A G 11: 54,350,559 E547G probably benign Het
Aldh1b1 T C 4: 45,803,472 F337L possibly damaging Het
Alg1 C T 16: 5,244,519 R422C probably benign Het
Ankrd23 A G 1: 36,534,066 L75S probably damaging Het
Arid5b T C 10: 68,097,609 H578R probably damaging Het
Atp10a G T 7: 58,797,562 W684L probably benign Het
Bzw2 T C 12: 36,107,648 probably null Het
C2cd2 A T 16: 97,870,172 I509K probably damaging Het
Card11 T C 5: 140,882,302 T864A possibly damaging Het
Ces1f A G 8: 93,267,320 S278P possibly damaging Het
Chd8 T C 14: 52,212,654 I208V probably benign Het
Cstf2t T C 19: 31,084,338 S425P probably benign Het
Cxcl1 A G 5: 90,891,577 T60A probably benign Het
Diaph1 G T 18: 37,853,709 probably benign Het
Exoc3l T G 8: 105,292,955 K394T probably benign Het
Fabp4 T C 3: 10,205,233 probably benign Het
Fam234b T A 6: 135,211,905 F169L possibly damaging Het
Hectd1 C A 12: 51,802,810 D204Y possibly damaging Het
Hephl1 A T 9: 15,069,770 Y789N probably damaging Het
Igfbp6 C A 15: 102,144,817 N90K probably benign Het
Khdrbs1 A T 4: 129,725,669 D226E probably benign Het
Lipo4 T A 19: 33,512,613 Q163L probably damaging Het
Mki67 T C 7: 135,696,549 E2252G probably benign Het
Nepn G T 10: 52,400,564 R132L probably benign Het
Nlrp9b T A 7: 20,023,417 L193* probably null Het
Ntn1 A G 11: 68,385,418 S235P probably damaging Het
Nup210l G T 3: 90,154,566 R684L probably damaging Het
Obp2b A G 2: 25,739,281 S154G possibly damaging Het
Olfr1129 A G 2: 87,575,938 T285A probably benign Het
Olfr1308 A G 2: 111,960,635 V146A probably benign Het
Olfr491 A T 7: 108,317,475 I194F probably benign Het
Olfr623 T A 7: 103,660,846 T135S probably benign Het
Polr3b A T 10: 84,631,840 R95* probably null Het
Prelid2 C T 18: 41,937,649 V40M probably benign Het
Ptprb T G 10: 116,372,876 L2205R probably damaging Het
R3hcc1l T C 19: 42,562,801 V79A probably benign Het
Rnf219 T C 14: 104,479,302 D545G probably damaging Het
Stam2 A G 2: 52,708,150 I259T probably damaging Het
Tdpoz4 A T 3: 93,796,882 N162I possibly damaging Het
Tuba3a A G 6: 125,282,758 V75A possibly damaging Het
Vmn2r73 A T 7: 85,857,549 *852K probably null Het
Wdr78 T C 4: 103,062,435 I139V probably benign Het
Zfp7 C T 15: 76,888,305 Q69* probably null Het
Zfp865 G T 7: 5,029,876 A287S probably benign Het
Zmpste24 T A 4: 121,097,884 Q39L probably benign Het
Other mutations in Med13l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Med13l APN 5 118724071 missense probably damaging 0.99
IGL01012:Med13l APN 5 118734028 missense probably damaging 0.99
IGL01316:Med13l APN 5 118762781 missense probably damaging 1.00
IGL01529:Med13l APN 5 118742335 missense probably damaging 1.00
IGL01790:Med13l APN 5 118593522 missense probably damaging 1.00
IGL02394:Med13l APN 5 118748833 missense probably benign 0.37
IGL02432:Med13l APN 5 118738400 missense possibly damaging 0.90
IGL02698:Med13l APN 5 118762829 missense probably damaging 0.99
IGL02801:Med13l APN 5 118745113 missense probably damaging 1.00
IGL03242:Med13l APN 5 118747445 missense probably benign
IGL03270:Med13l APN 5 118731430 missense probably damaging 1.00
Basics UTSW 5 118759264 critical splice donor site probably null
Fundament UTSW 5 118721474 missense probably damaging 1.00
Root UTSW 5 118593445 missense probably damaging 1.00
P0035:Med13l UTSW 5 118742620 missense probably benign 0.00
R0051:Med13l UTSW 5 118742655 missense probably damaging 1.00
R0051:Med13l UTSW 5 118742655 missense probably damaging 1.00
R0136:Med13l UTSW 5 118724050 missense probably benign 0.15
R0158:Med13l UTSW 5 118742449 missense unknown
R0197:Med13l UTSW 5 118671002 splice site probably benign
R0370:Med13l UTSW 5 118741826 missense probably benign 0.14
R0492:Med13l UTSW 5 118738495 missense probably damaging 1.00
R0532:Med13l UTSW 5 118759123 missense possibly damaging 0.78
R0726:Med13l UTSW 5 118748684 missense probably damaging 0.99
R0738:Med13l UTSW 5 118751633 missense probably damaging 0.99
R0827:Med13l UTSW 5 118726247 splice site probably benign
R0883:Med13l UTSW 5 118671002 splice site probably benign
R0959:Med13l UTSW 5 118754285 missense possibly damaging 0.89
R1458:Med13l UTSW 5 118738459 missense probably benign 0.00
R1562:Med13l UTSW 5 118738519 missense probably damaging 1.00
R1577:Med13l UTSW 5 118721392 missense probably damaging 1.00
R1661:Med13l UTSW 5 118749748 missense probably damaging 1.00
R1665:Med13l UTSW 5 118749748 missense probably damaging 1.00
R1720:Med13l UTSW 5 118741995 missense probably damaging 1.00
R1929:Med13l UTSW 5 118728833 missense probably benign 0.01
R1967:Med13l UTSW 5 118761322 missense probably damaging 0.99
R2301:Med13l UTSW 5 118593447 missense probably damaging 1.00
R3691:Med13l UTSW 5 118721497 missense probably benign 0.16
R3895:Med13l UTSW 5 118761323 missense probably null 0.99
R4043:Med13l UTSW 5 118593463 missense probably damaging 1.00
R4593:Med13l UTSW 5 118742560 missense probably damaging 1.00
R4902:Med13l UTSW 5 118745130 missense probably damaging 1.00
R4995:Med13l UTSW 5 118730949 missense possibly damaging 0.90
R5010:Med13l UTSW 5 118593550 missense possibly damaging 0.95
R5057:Med13l UTSW 5 118718493 missense probably damaging 1.00
R5369:Med13l UTSW 5 118724010 missense probably benign 0.02
R5446:Med13l UTSW 5 118742397 missense possibly damaging 0.81
R5564:Med13l UTSW 5 118742040 missense probably damaging 1.00
R5566:Med13l UTSW 5 118728665 missense possibly damaging 0.95
R5580:Med13l UTSW 5 118751630 missense possibly damaging 0.95
R5634:Med13l UTSW 5 118560850 missense possibly damaging 0.88
R5748:Med13l UTSW 5 118593445 missense probably damaging 1.00
R5764:Med13l UTSW 5 118728642 missense probably damaging 0.99
R5765:Med13l UTSW 5 118728642 missense probably damaging 0.99
R6083:Med13l UTSW 5 118721486 missense possibly damaging 0.80
R6504:Med13l UTSW 5 118754321 missense probably benign 0.34
R6546:Med13l UTSW 5 118721474 missense probably damaging 1.00
R6797:Med13l UTSW 5 118759264 critical splice donor site probably null
R6911:Med13l UTSW 5 118755658 missense possibly damaging 0.95
R6942:Med13l UTSW 5 118745006 splice site probably null
R7018:Med13l UTSW 5 118751986 missense probably damaging 0.99
R7096:Med13l UTSW 5 118721926 missense possibly damaging 0.90
R7113:Med13l UTSW 5 118726265 missense probably benign 0.09
R7136:Med13l UTSW 5 118721522 missense possibly damaging 0.90
R7140:Med13l UTSW 5 118741972 missense probably benign 0.27
R7345:Med13l UTSW 5 118742760 missense probably damaging 1.00
R7409:Med13l UTSW 5 118754321 missense probably benign 0.34
R7410:Med13l UTSW 5 118560832 missense possibly damaging 0.94
R7432:Med13l UTSW 5 118751938 missense probably damaging 0.99
R7486:Med13l UTSW 5 118728474 missense probably benign 0.17
R7509:Med13l UTSW 5 118748930 missense probably damaging 0.97
R7722:Med13l UTSW 5 118747407 missense probably benign 0.32
R7802:Med13l UTSW 5 118728590 missense probably benign 0.03
X0065:Med13l UTSW 5 118729883 missense probably damaging 1.00
Z1088:Med13l UTSW 5 118749641 missense probably damaging 0.98
Posted On2014-01-21