Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01535:Med12l'

89915

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Med12l

Ensembl Gene

ENSMUSG00000056476

Gene Name

mediator complex subunit 12-like

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.257) question?

Stock #

IGL01535

Quality Score

Status

Chromosome

Chromosomal Location

58913246-59226103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59169680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1615 (T1615S)

Ref Sequence

ENSEMBL: ENSMUSP00000127038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040325] [ENSMUST00000050360] [ENSMUST00000164225] [ENSMUST00000199609] [ENSMUST00000199659]

AlphaFold

Q8BQM9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040325
AA Change: T1580S

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000042269
Gene: ENSMUSG00000056476
AA Change: T1580S

Domain	Start	End	E-Value	Type
Med12	101	161	1.71e-24	SMART
low complexity region	216	224	N/A	INTRINSIC
low complexity region	269	278	N/A	INTRINSIC
Pfam:Med12-LCEWAV	282	730	2.6e-207	PFAM
low complexity region	744	758	N/A	INTRINSIC
low complexity region	853	872	N/A	INTRINSIC
low complexity region	1455	1466	N/A	INTRINSIC
low complexity region	1728	1742	N/A	INTRINSIC
low complexity region	1769	1783	N/A	INTRINSIC
Pfam:Med12-PQL	1803	2029	2.3e-14	PFAM
low complexity region	2055	2076	N/A	INTRINSIC
low complexity region	2083	2101	N/A	INTRINSIC
low complexity region	2116	2136	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000050360

SMART Domains

Protein: ENSMUSP00000051353
Gene: ENSMUSG00000036353

Domain	Start	End	E-Value	Type
Pfam:7tm_1	48	304	1.3e-40	PFAM
low complexity region	322	335	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000164225
AA Change: T1615S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127038
Gene: ENSMUSG00000056476
AA Change: T1615S

Domain	Start	End	E-Value	Type
Med12	101	161	1.71e-24	SMART
low complexity region	216	224	N/A	INTRINSIC
low complexity region	269	278	N/A	INTRINSIC
Pfam:Med12-LCEWAV	283	765	5e-187	PFAM
low complexity region	779	793	N/A	INTRINSIC
low complexity region	888	907	N/A	INTRINSIC
low complexity region	1490	1501	N/A	INTRINSIC
low complexity region	1763	1777	N/A	INTRINSIC
low complexity region	1804	1818	N/A	INTRINSIC
Pfam:Med12-PQL	1840	2063	9.7e-66	PFAM
low complexity region	2090	2111	N/A	INTRINSIC
low complexity region	2118	2136	N/A	INTRINSIC
low complexity region	2151	2171	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000197374
AA Change: T257S

Predicted Effect

probably benign
Transcript: ENSMUST00000199609

SMART Domains

Protein: ENSMUSP00000143521
Gene: ENSMUSG00000036353

Domain	Start	End	E-Value	Type
Pfam:7tm_1	23	304	1.5e-31	PFAM
low complexity region	322	335	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199659
AA Change: T1615S

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142903
Gene: ENSMUSG00000056476
AA Change: T1615S

Domain	Start	End	E-Value	Type
Med12	101	161	1.71e-24	SMART
low complexity region	216	224	N/A	INTRINSIC
low complexity region	269	278	N/A	INTRINSIC
Pfam:Med12-LCEWAV	282	765	5.5e-209	PFAM
low complexity region	779	793	N/A	INTRINSIC
low complexity region	888	907	N/A	INTRINSIC
low complexity region	1490	1501	N/A	INTRINSIC
low complexity region	1761	1775	N/A	INTRINSIC
low complexity region	1802	1816	N/A	INTRINSIC
Pfam:Med12-PQL	1836	2062	1.7e-15	PFAM
low complexity region	2088	2130	N/A	INTRINSIC
low complexity region	2144	2164	N/A	INTRINSIC

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 part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010]

Allele List at MGI

All alleles(4) : Targeted(3) Gene trapped(1)

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 59,101,891 (GRCm39)	S654T	probably benign	Het
Brd10	T	C	19: 29,731,212 (GRCm39)	H600R	possibly damaging	Het
Cacnb3	A	T	15: 98,537,469 (GRCm39)	Q49L	probably benign	Het
Dapk1	A	G	13: 60,878,845 (GRCm39)		probably benign	Het
Dop1b	T	A	16: 93,566,846 (GRCm39)	L1091*	probably null	Het
Epb42	A	G	2: 120,858,169 (GRCm39)	V263A	probably damaging	Het
Fig4	T	G	10: 41,132,490 (GRCm39)	S439R	probably benign	Het
Gatc	A	T	5: 115,479,048 (GRCm39)	V54E	possibly damaging	Het
Hook2	T	C	8: 85,729,618 (GRCm39)	L686P	probably benign	Het
Msr1	C	T	8: 40,064,714 (GRCm39)	G320D	probably benign	Het
Nbeal1	T	A	1: 60,256,414 (GRCm39)	F220I	probably damaging	Het
Or14j2	T	A	17: 37,885,679 (GRCm39)	I212F	possibly damaging	Het
Or2l5	G	A	16: 19,334,228 (GRCm39)	H53Y	probably benign	Het
Pcdh10	A	T	3: 45,334,078 (GRCm39)	I131F	probably damaging	Het
Phlpp2	A	G	8: 110,660,697 (GRCm39)	E784G	possibly damaging	Het
Prr36	A	T	8: 4,264,043 (GRCm39)		probably benign	Het
Ptprq	G	A	10: 107,535,457 (GRCm39)	S436L	probably benign	Het
Rock1	T	A	18: 10,132,119 (GRCm39)		probably benign	Het
Sash1	T	G	10: 8,617,341 (GRCm39)	T522P	probably damaging	Het
Serpinb2	T	C	1: 107,447,503 (GRCm39)		probably null	Het
Supt16	T	C	14: 52,414,647 (GRCm39)	K422E	probably damaging	Het
Syt14	T	G	1: 192,669,073 (GRCm39)	D60A	probably damaging	Het
Tbc1d2b	A	C	9: 90,097,526 (GRCm39)		probably benign	Het
Thsd7b	T	C	1: 129,605,954 (GRCm39)	I565T	possibly damaging	Het
Ttn	A	G	2: 76,564,536 (GRCm39)	Y28534H	probably damaging	Het
Vmn1r177	T	A	7: 23,565,765 (GRCm39)	H37L	probably damaging	Het
Vps13b	A	T	15: 35,455,103 (GRCm39)	N671Y	possibly damaging	Het

Other mutations in Med12l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Med12l	APN	3	58,949,757 (GRCm39)	missense	probably damaging	0.98
IGL00561:Med12l	APN	3	59,135,245 (GRCm39)	missense	probably benign
IGL00974:Med12l	APN	3	58,990,435 (GRCm39)	missense	probably damaging	1.00
IGL01024:Med12l	APN	3	58,980,762 (GRCm39)	missense	probably damaging	1.00
IGL01094:Med12l	APN	3	59,001,076 (GRCm39)	missense	probably damaging	0.99
IGL01134:Med12l	APN	3	58,949,696 (GRCm39)	missense	possibly damaging	0.91
IGL01653:Med12l	APN	3	59,169,314 (GRCm39)	missense	probably damaging	1.00
IGL01735:Med12l	APN	3	59,170,675 (GRCm39)	missense	probably damaging	1.00
IGL01972:Med12l	APN	3	59,169,314 (GRCm39)	missense	probably damaging	1.00
IGL02005:Med12l	APN	3	59,152,368 (GRCm39)	missense	probably damaging	1.00
IGL02098:Med12l	APN	3	59,183,276 (GRCm39)	missense	possibly damaging	0.92
IGL02115:Med12l	APN	3	58,975,740 (GRCm39)	missense	probably benign	0.00
IGL02231:Med12l	APN	3	59,153,303 (GRCm39)	missense	probably damaging	1.00
IGL02259:Med12l	APN	3	59,153,264 (GRCm39)	missense	probably damaging	1.00
IGL02369:Med12l	APN	3	59,164,794 (GRCm39)	missense	probably benign	0.00
IGL02424:Med12l	APN	3	59,000,143 (GRCm39)	missense	probably benign	0.21
IGL02501:Med12l	APN	3	59,169,397 (GRCm39)	missense	possibly damaging	0.71
IGL02525:Med12l	APN	3	58,975,789 (GRCm39)	missense	probably benign	0.01
IGL02530:Med12l	APN	3	58,984,510 (GRCm39)	missense	probably damaging	1.00
IGL02735:Med12l	APN	3	59,001,067 (GRCm39)	missense	probably damaging	1.00
IGL02865:Med12l	APN	3	59,201,713 (GRCm39)	missense	probably damaging	1.00
IGL03183:Med12l	APN	3	58,944,976 (GRCm39)	splice site	probably null
IGL03264:Med12l	APN	3	59,208,788 (GRCm39)	nonsense	probably null
FR4304:Med12l	UTSW	3	59,183,403 (GRCm39)	small insertion	probably benign
FR4340:Med12l	UTSW	3	59,183,406 (GRCm39)	small insertion	probably benign
FR4342:Med12l	UTSW	3	59,183,415 (GRCm39)	small insertion	probably benign
FR4342:Med12l	UTSW	3	59,183,409 (GRCm39)	small insertion	probably benign
FR4449:Med12l	UTSW	3	59,183,384 (GRCm39)	nonsense	probably null
FR4548:Med12l	UTSW	3	59,183,403 (GRCm39)	small insertion	probably benign
FR4589:Med12l	UTSW	3	59,183,377 (GRCm39)	small insertion	probably benign
FR4976:Med12l	UTSW	3	59,183,398 (GRCm39)	small insertion	probably benign
P0007:Med12l	UTSW	3	58,998,816 (GRCm39)	splice site	probably benign
P0045:Med12l	UTSW	3	58,998,956 (GRCm39)	missense	probably damaging	0.99
R0030:Med12l	UTSW	3	59,156,076 (GRCm39)	missense	probably damaging	1.00
R0030:Med12l	UTSW	3	59,156,076 (GRCm39)	missense	probably damaging	1.00
R0148:Med12l	UTSW	3	58,945,075 (GRCm39)	missense	probably damaging	1.00
R0325:Med12l	UTSW	3	58,984,480 (GRCm39)	missense	possibly damaging	0.88
R0330:Med12l	UTSW	3	59,135,123 (GRCm39)	missense	probably damaging	1.00
R0388:Med12l	UTSW	3	59,000,925 (GRCm39)	splice site	probably benign
R0542:Med12l	UTSW	3	58,949,822 (GRCm39)	missense	probably damaging	1.00
R0624:Med12l	UTSW	3	58,945,123 (GRCm39)	nonsense	probably null
R0625:Med12l	UTSW	3	59,154,858 (GRCm39)	missense	probably damaging	1.00
R0671:Med12l	UTSW	3	59,172,350 (GRCm39)	missense	probably damaging	1.00
R0706:Med12l	UTSW	3	59,169,401 (GRCm39)	missense	probably damaging	1.00
R0785:Med12l	UTSW	3	59,168,253 (GRCm39)	missense	probably damaging	1.00
R1054:Med12l	UTSW	3	59,156,072 (GRCm39)	missense	probably damaging	0.99
R1102:Med12l	UTSW	3	59,152,257 (GRCm39)	missense	probably damaging	0.99
R1391:Med12l	UTSW	3	58,945,159 (GRCm39)	missense	probably benign	0.00
R1501:Med12l	UTSW	3	59,168,256 (GRCm39)	critical splice donor site	probably null
R1544:Med12l	UTSW	3	59,172,661 (GRCm39)	missense	possibly damaging	0.71
R1662:Med12l	UTSW	3	59,001,038 (GRCm39)	missense	probably damaging	1.00
R1670:Med12l	UTSW	3	59,183,379 (GRCm39)	small insertion	probably benign
R1839:Med12l	UTSW	3	58,975,740 (GRCm39)	missense	probably benign
R1854:Med12l	UTSW	3	59,168,193 (GRCm39)	missense	probably damaging	1.00
R2045:Med12l	UTSW	3	59,169,731 (GRCm39)	nonsense	probably null
R2070:Med12l	UTSW	3	59,152,326 (GRCm39)	missense	probably damaging	1.00
R2132:Med12l	UTSW	3	59,172,703 (GRCm39)	splice site	probably null
R2290:Med12l	UTSW	3	59,152,359 (GRCm39)	missense	probably damaging	1.00
R2325:Med12l	UTSW	3	59,139,875 (GRCm39)	missense	probably damaging	0.99
R2352:Med12l	UTSW	3	59,148,113 (GRCm39)	missense	probably damaging	1.00
R2484:Med12l	UTSW	3	59,205,259 (GRCm39)	missense	probably benign	0.18
R2906:Med12l	UTSW	3	59,164,503 (GRCm39)	missense	probably damaging	1.00
R3735:Med12l	UTSW	3	58,998,916 (GRCm39)	missense	probably damaging	1.00
R3736:Med12l	UTSW	3	58,998,916 (GRCm39)	missense	probably damaging	1.00
R3774:Med12l	UTSW	3	59,155,363 (GRCm39)	missense	probably damaging	0.97
R3957:Med12l	UTSW	3	58,980,589 (GRCm39)	missense	probably damaging	0.99
R4020:Med12l	UTSW	3	59,155,363 (GRCm39)	missense	probably damaging	0.97
R4087:Med12l	UTSW	3	59,205,342 (GRCm39)	missense	probably benign	0.00
R4231:Med12l	UTSW	3	59,164,644 (GRCm39)	splice site	probably null
R4233:Med12l	UTSW	3	59,164,644 (GRCm39)	splice site	probably null
R4235:Med12l	UTSW	3	59,164,644 (GRCm39)	splice site	probably null
R4236:Med12l	UTSW	3	59,164,644 (GRCm39)	splice site	probably null
R4327:Med12l	UTSW	3	59,172,688 (GRCm39)	missense	probably benign	0.01
R4328:Med12l	UTSW	3	59,172,688 (GRCm39)	missense	probably benign	0.01
R4346:Med12l	UTSW	3	58,938,976 (GRCm39)	missense	probably damaging	1.00
R4543:Med12l	UTSW	3	58,998,929 (GRCm39)	missense	probably damaging	1.00
R4559:Med12l	UTSW	3	58,914,523 (GRCm39)	critical splice donor site	probably null
R4776:Med12l	UTSW	3	59,140,633 (GRCm39)	missense	probably damaging	1.00
R4877:Med12l	UTSW	3	59,152,214 (GRCm39)	missense	probably damaging	1.00
R4983:Med12l	UTSW	3	59,169,350 (GRCm39)	missense	probably damaging	1.00
R5114:Med12l	UTSW	3	59,167,109 (GRCm39)	missense	possibly damaging	0.85
R5125:Med12l	UTSW	3	59,174,635 (GRCm39)	missense	possibly damaging	0.83
R5230:Med12l	UTSW	3	59,153,209 (GRCm39)	missense	probably damaging	1.00
R5407:Med12l	UTSW	3	59,165,622 (GRCm39)	missense	probably damaging	1.00
R5426:Med12l	UTSW	3	59,156,143 (GRCm39)	missense	probably damaging	0.98
R5439:Med12l	UTSW	3	59,170,634 (GRCm39)	missense	probably null	1.00
R5449:Med12l	UTSW	3	59,167,127 (GRCm39)	missense	probably damaging	1.00
R5596:Med12l	UTSW	3	59,159,771 (GRCm39)	missense	probably benign	0.45
R5716:Med12l	UTSW	3	59,208,798 (GRCm39)	critical splice donor site	probably null
R5833:Med12l	UTSW	3	59,172,647 (GRCm39)	missense	possibly damaging	0.95
R5883:Med12l	UTSW	3	58,998,889 (GRCm39)	missense	probably damaging	1.00
R6264:Med12l	UTSW	3	59,163,423 (GRCm39)	missense	probably damaging	1.00
R6269:Med12l	UTSW	3	59,135,243 (GRCm39)	missense	probably damaging	1.00
R6394:Med12l	UTSW	3	59,142,508 (GRCm39)	missense	probably damaging	1.00
R6400:Med12l	UTSW	3	59,155,332 (GRCm39)	missense	probably damaging	1.00
R6475:Med12l	UTSW	3	59,164,500 (GRCm39)	missense	probably damaging	1.00
R6489:Med12l	UTSW	3	59,164,828 (GRCm39)	missense	probably damaging	0.99
R6654:Med12l	UTSW	3	59,169,713 (GRCm39)	missense	probably damaging	1.00
R6881:Med12l	UTSW	3	59,174,586 (GRCm39)	missense	probably benign	0.00
R7110:Med12l	UTSW	3	59,169,645 (GRCm39)	missense	possibly damaging	0.92
R7134:Med12l	UTSW	3	59,001,180 (GRCm39)	nonsense	probably null
R7137:Med12l	UTSW	3	59,165,675 (GRCm39)	missense	probably damaging	1.00
R7159:Med12l	UTSW	3	59,183,438 (GRCm39)	missense	probably benign
R7341:Med12l	UTSW	3	58,949,824 (GRCm39)	missense	possibly damaging	0.53
R7349:Med12l	UTSW	3	59,165,746 (GRCm39)	missense	probably damaging	1.00
R7413:Med12l	UTSW	3	58,998,971 (GRCm39)	missense	probably benign	0.00
R7495:Med12l	UTSW	3	59,152,194 (GRCm39)	missense	probably damaging	1.00
R7678:Med12l	UTSW	3	58,984,141 (GRCm39)	missense	probably damaging	1.00
R7697:Med12l	UTSW	3	59,148,078 (GRCm39)	missense	probably damaging	1.00
R7714:Med12l	UTSW	3	59,001,007 (GRCm39)	missense	probably benign	0.17
R7725:Med12l	UTSW	3	59,163,413 (GRCm39)	missense	probably damaging	1.00
R7846:Med12l	UTSW	3	59,172,355 (GRCm39)	missense	probably damaging	1.00
R7852:Med12l	UTSW	3	59,155,332 (GRCm39)	missense	probably damaging	1.00
R8080:Med12l	UTSW	3	59,172,607 (GRCm39)	missense	probably damaging	1.00
R8181:Med12l	UTSW	3	59,169,389 (GRCm39)	missense	probably damaging	1.00
R8223:Med12l	UTSW	3	58,993,784 (GRCm39)	missense	possibly damaging	0.79
R8560:Med12l	UTSW	3	58,945,026 (GRCm39)	missense	probably damaging	1.00
R8708:Med12l	UTSW	3	59,159,751 (GRCm39)	missense	probably benign	0.00
R8865:Med12l	UTSW	3	58,979,303 (GRCm39)	missense	probably benign
R8947:Med12l	UTSW	3	58,984,443 (GRCm39)	splice site	probably benign
R8976:Med12l	UTSW	3	59,183,329 (GRCm39)	missense	probably damaging	0.99
R9016:Med12l	UTSW	3	59,163,294 (GRCm39)	missense	probably damaging	0.96
R9183:Med12l	UTSW	3	58,984,498 (GRCm39)	missense	probably damaging	1.00
R9487:Med12l	UTSW	3	59,155,353 (GRCm39)	missense	probably benign
R9526:Med12l	UTSW	3	58,984,207 (GRCm39)	missense	probably damaging	0.96
R9802:Med12l	UTSW	3	59,169,346 (GRCm39)	missense	probably damaging	1.00
RF004:Med12l	UTSW	3	59,183,390 (GRCm39)	small insertion	probably benign
RF011:Med12l	UTSW	3	59,183,401 (GRCm39)	small insertion	probably benign
RF013:Med12l	UTSW	3	59,183,387 (GRCm39)	small insertion	probably benign
RF020:Med12l	UTSW	3	59,183,379 (GRCm39)	small insertion	probably benign
RF021:Med12l	UTSW	3	58,980,711 (GRCm39)	missense	probably benign	0.19
RF027:Med12l	UTSW	3	59,183,402 (GRCm39)	small insertion	probably benign
RF027:Med12l	UTSW	3	59,183,388 (GRCm39)	small insertion	probably benign
RF030:Med12l	UTSW	3	59,183,410 (GRCm39)	small insertion	probably benign
RF032:Med12l	UTSW	3	59,183,410 (GRCm39)	small insertion	probably benign
RF032:Med12l	UTSW	3	59,183,406 (GRCm39)	small insertion	probably benign
RF032:Med12l	UTSW	3	59,183,402 (GRCm39)	small insertion	probably benign
RF033:Med12l	UTSW	3	59,183,416 (GRCm39)	small insertion	probably benign
RF033:Med12l	UTSW	3	59,183,408 (GRCm39)	small insertion	probably benign
RF033:Med12l	UTSW	3	59,183,402 (GRCm39)	small insertion	probably benign
RF037:Med12l	UTSW	3	59,183,377 (GRCm39)	small insertion	probably benign
RF040:Med12l	UTSW	3	59,183,410 (GRCm39)	small insertion	probably benign
RF040:Med12l	UTSW	3	59,183,388 (GRCm39)	small insertion	probably benign
RF041:Med12l	UTSW	3	59,183,416 (GRCm39)	small insertion	probably benign
RF041:Med12l	UTSW	3	59,183,406 (GRCm39)	small insertion	probably benign
RF042:Med12l	UTSW	3	59,183,402 (GRCm39)	small insertion	probably benign
RF042:Med12l	UTSW	3	59,183,388 (GRCm39)	small insertion	probably benign
RF042:Med12l	UTSW	3	59,183,377 (GRCm39)	small insertion	probably benign
RF042:Med12l	UTSW	3	59,183,416 (GRCm39)	small insertion	probably benign
RF049:Med12l	UTSW	3	59,183,390 (GRCm39)	small insertion	probably benign
RF050:Med12l	UTSW	3	59,183,394 (GRCm39)	small insertion	probably benign
RF053:Med12l	UTSW	3	59,183,414 (GRCm39)	small insertion	probably benign
RF055:Med12l	UTSW	3	59,183,404 (GRCm39)	small insertion	probably benign
RF056:Med12l	UTSW	3	59,183,414 (GRCm39)	small insertion	probably benign
RF057:Med12l	UTSW	3	59,183,401 (GRCm39)	small insertion	probably benign
RF063:Med12l	UTSW	3	59,183,394 (GRCm39)	small insertion	probably benign
RF063:Med12l	UTSW	3	59,183,379 (GRCm39)	small insertion	probably benign
X0062:Med12l	UTSW	3	59,140,600 (GRCm39)	missense	probably damaging	1.00
Z1176:Med12l	UTSW	3	59,203,538 (GRCm39)	missense	probably benign	0.00
Z1176:Med12l	UTSW	3	59,152,364 (GRCm39)	missense	probably damaging	1.00
Z1176:Med12l	UTSW	3	58,998,838 (GRCm39)	missense	probably damaging	0.98
Z1177:Med12l	UTSW	3	59,155,296 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-03