Mutagenetix > Incidental Mutations

Incidental Mutation 'R0671:Med12l'

216140

Institutional Source

Beutler Lab

Gene Symbol

Med12l

Ensembl Gene

ENSMUSG00000056476

Gene Name

mediator complex subunit 12-like

Synonyms

MMRRC Submission

038856-MU

Accession Numbers

NCBI RefSeq: NM_177855.3; MGI: 2139916

Is this an essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

R0671 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

59005825-59318682 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59264929 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 1702 (Q1702R)

Ref Sequence

ENSEMBL: ENSMUSP00000127038 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040325
AA Change: Q1667R

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000042269
Gene: ENSMUSG00000056476
AA Change: Q1667R

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: Q1702R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127038
Gene: ENSMUSG00000056476
AA Change: Q1702R

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

probably benign
Transcript: ENSMUST00000197374

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199400

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

probably damaging
Transcript: ENSMUST00000199659
AA Change: Q1700R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142903
Gene: ENSMUSG00000056476
AA Change: Q1700R

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

Meta Mutation Damage Score

0.1251

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

99% (125/126)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	T	C	8: 84,003,008		probably benign	Het
4930430A15Rik	A	C	2: 111,204,137	V350G	possibly damaging	Het
A530064D06Rik	G	A	17: 48,166,656	T31I	probably benign	Het
Abca17	A	G	17: 24,281,249	F1323L	probably benign	Het
Abcf3	T	A	16: 20,550,487	N206K	probably damaging	Het
Adam10	A	G	9: 70,765,941		probably benign	Het
Adamtsl3	A	T	7: 82,523,182	Q451L	probably damaging	Het
Adgrl3	T	A	5: 81,560,905	I413N	probably benign	Het
Asb18	G	T	1: 89,993,171	A128E	probably damaging	Het
Atf7ip2	T	C	16: 10,241,879	S428P	possibly damaging	Het
Atp8b5	G	T	4: 43,291,672	C15F	possibly damaging	Het
Bahcc1	A	G	11: 120,287,320	E2235G	probably damaging	Het
Blnk	G	T	19: 40,937,667	S330*	probably null	Het
Bpnt1	T	G	1: 185,356,611	N319K	probably benign	Het
Brip1	G	A	11: 86,152,667	T357I	possibly damaging	Het
Cadm1	T	A	9: 47,813,806	D288E	probably benign	Het
Calcoco2	A	G	11: 96,107,528	V23A	probably damaging	Het
Cand2	G	A	6: 115,803,805	E1217K	probably damaging	Het
Ccdc154	G	T	17: 25,167,285		probably benign	Het
Cdk12	T	C	11: 98,230,109		probably benign	Het
Clec4a3	A	G	6: 122,954,034		probably null	Het
Cpne2	T	A	8: 94,548,342		probably benign	Het
Cyfip1	T	C	7: 55,923,962		probably null	Het
Cyp26c1	A	G	19: 37,686,561	H110R	probably damaging	Het
Cyp2j13	A	G	4: 96,071,695	Y75H	probably damaging	Het
Defb43	T	A	14: 63,011,838	V10D	probably damaging	Het
Dhx36	G	A	3: 62,493,741	S368L	possibly damaging	Het
Dock6	G	A	9: 21,804,627		probably benign	Het
Elp2	T	C	18: 24,612,442		probably benign	Het
Emilin3	A	G	2: 160,908,329	L453P	probably damaging	Het
Eml6	A	T	11: 29,805,065	D903E	probably benign	Het
Ep300	T	C	15: 81,616,134		probably benign	Het
Ep400	G	A	5: 110,688,196	T1899M	unknown	Het
Fancg	A	G	4: 43,002,998	S620P	probably benign	Het
Fbxo42	G	A	4: 141,195,239	V239M	probably damaging	Het
Fermt2	T	C	14: 45,469,319	D340G	probably benign	Het
Filip1	A	T	9: 79,819,390	V649E	probably damaging	Het
Fut8	G	A	12: 77,475,017	E477K	probably damaging	Het
Gbp3	G	A	3: 142,565,390	G185D	probably benign	Het
Gclc	G	T	9: 77,786,798	D345Y	probably damaging	Het
Gkn2	A	G	6: 87,375,818	D43G	possibly damaging	Het
Gm960	A	G	19: 4,626,188	S639P	probably damaging	Het
Gnptab	A	G	10: 88,443,304		probably benign	Het
Greb1l	C	T	18: 10,474,303	T206I	probably damaging	Het
Grk4	A	G	5: 34,748,267	N452S	probably benign	Het
Hcn2	G	C	10: 79,734,232		probably null	Het
Hpn	T	C	7: 31,109,160	K76E	possibly damaging	Het
Hspg2	A	G	4: 137,553,280	D3268G	probably damaging	Het
Immt	A	T	6: 71,871,557	Q467L	possibly damaging	Het
Kalrn	T	C	16: 34,116,408	S1636G	probably benign	Het
Kcnh8	T	A	17: 52,978,113	L1037*	probably null	Het
Klhl33	T	C	14: 50,892,394	T548A	probably damaging	Het
Klri2	T	C	6: 129,740,208	I71V	probably benign	Het
Kmt2c	A	T	5: 25,404,365	C254S	probably damaging	Het
Lama3	T	C	18: 12,477,590	I1170T	possibly damaging	Het
Mga	A	T	2: 119,919,910		probably null	Het
Mis18a	A	T	16: 90,720,673	I172K	possibly damaging	Het
Mrgpre	T	C	7: 143,781,517	D83G	probably benign	Het
Mroh2a	C	A	1: 88,242,420	A685D	possibly damaging	Het
Mrpl39	T	C	16: 84,734,394		probably benign	Het
Mrrf	C	T	2: 36,153,698	A149V	probably benign	Het
Mycbp2	A	T	14: 103,194,588	M2338K	possibly damaging	Het
Myo18b	T	C	5: 112,692,766	Q2387R	probably benign	Het
N4bp2	T	C	5: 65,807,437	I943T	probably damaging	Het
Ncapd3	T	A	9: 27,087,477	N1254K	probably benign	Het
Ncoa1	A	T	12: 4,249,758		probably null	Het
Ncor2	C	T	5: 125,049,387	A136T	probably benign	Het
Olfr311	T	A	11: 58,841,855	I247N	possibly damaging	Het
Olfr483	C	A	7: 108,104,156	Y282*	probably null	Het
Olfr539	A	G	7: 140,667,677	D123G	probably damaging	Het
Olfr887	T	A	9: 38,085,127	M97K	possibly damaging	Het
Opa1	T	C	16: 29,602,207		probably benign	Het
Pcdhb4	T	C	18: 37,307,742	M35T	probably benign	Het
Per3	T	C	4: 151,028,831	I347V	probably benign	Het
Pex13	G	A	11: 23,665,831	P5L	possibly damaging	Het
Phkb	T	A	8: 85,875,693	W38R	probably damaging	Het
Plekhf1	A	T	7: 38,221,402	D247E	probably benign	Het
Plxnb2	A	G	15: 89,157,981	S1607P	probably benign	Het
Plxnc1	T	A	10: 94,799,332	H1344L	possibly damaging	Het
Ptk7	T	G	17: 46,590,312	N196H	possibly damaging	Het
Rab27a	G	T	9: 73,075,433	D7Y	probably damaging	Het
Rars2	T	A	4: 34,630,505	C82*	probably null	Het
Rccd1	A	T	7: 80,320,217		probably benign	Het
Riiad1	T	C	3: 94,472,239	I56V	possibly damaging	Het
Rnase4	A	G	14: 51,105,050	E77G	probably damaging	Het
Rnf126	A	T	10: 79,761,607	I157N	possibly damaging	Het
Rnf207	T	C	4: 152,307,468	R623G	probably benign	Het
Rpusd1	T	G	17: 25,728,524	F62V	possibly damaging	Het
Rxfp1	T	C	3: 79,663,293		probably null	Het
Scfd1	A	T	12: 51,412,628	Q324L	probably benign	Het
Skint3	G	T	4: 112,255,777	E195*	probably null	Het
Slc7a10	A	T	7: 35,197,333	T165S	probably benign	Het
Smagp	A	G	15: 100,621,852	I97T	probably damaging	Het
Sostdc1	A	G	12: 36,317,341	H172R	probably damaging	Het
Spast	A	G	17: 74,339,451		probably benign	Het
Sspo	G	T	6: 48,490,391		probably benign	Het
Ston2	C	T	12: 91,740,466		probably null	Het
Tas2r103	T	G	6: 133,036,350	E251A	probably benign	Het
Tbc1d2b	A	T	9: 90,222,505		probably benign	Het
Telo2	G	A	17: 25,113,165	P143L	probably benign	Het
Tgfbi	A	T	13: 56,638,726	Y674F	probably null	Het
Tha1	T	A	11: 117,873,157		probably benign	Het
Timp4	T	A	6: 115,249,853	S110C	probably damaging	Het
Tlr6	T	C	5: 64,954,592	K324R	probably benign	Het
Tnip3	A	G	6: 65,597,363	E137G	probably damaging	Het
Trak1	T	C	9: 121,448,955		probably null	Het
Trim47	A	G	11: 116,108,352	S233P	probably benign	Het
Tspoap1	A	T	11: 87,762,809	E155V	probably damaging	Het
Tsta3	A	G	15: 75,928,958	V27A	possibly damaging	Het
Uggt1	A	T	1: 36,155,128	L1343Q	probably damaging	Het
Utp14b	T	C	1: 78,664,735	S117P	probably benign	Het
Vmn1r124	A	T	7: 21,260,511	V36D	probably damaging	Het
Wdr27	T	C	17: 14,928,396	T112A	probably benign	Het
Wdr90	T	C	17: 25,846,393	T1630A	probably benign	Het
Zfp352	A	G	4: 90,223,919	T99A	probably benign	Het

Other mutations in Med12l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Med12l	APN	3	59042336	missense	probably damaging	0.98
IGL00561:Med12l	APN	3	59227824	missense	probably benign
IGL00974:Med12l	APN	3	59083014	missense	probably damaging	1.00
IGL01024:Med12l	APN	3	59073341	missense	probably damaging	1.00
IGL01094:Med12l	APN	3	59093655	missense	probably damaging	0.99
IGL01134:Med12l	APN	3	59042275	missense	possibly damaging	0.91
IGL01535:Med12l	APN	3	59262259	missense	probably damaging	1.00
IGL01653:Med12l	APN	3	59261893	missense	probably damaging	1.00
IGL01735:Med12l	APN	3	59263254	missense	probably damaging	1.00
IGL01972:Med12l	APN	3	59261893	missense	probably damaging	1.00
IGL02005:Med12l	APN	3	59244947	missense	probably damaging	1.00
IGL02098:Med12l	APN	3	59275855	missense	possibly damaging	0.92
IGL02115:Med12l	APN	3	59068319	missense	probably benign	0.00
IGL02231:Med12l	APN	3	59245882	missense	probably damaging	1.00
IGL02259:Med12l	APN	3	59245843	missense	probably damaging	1.00
IGL02369:Med12l	APN	3	59257373	missense	probably benign	0.00
IGL02424:Med12l	APN	3	59092722	missense	probably benign	0.21
IGL02501:Med12l	APN	3	59261976	missense	possibly damaging	0.71
IGL02525:Med12l	APN	3	59068368	missense	probably benign	0.01
IGL02530:Med12l	APN	3	59077089	missense	probably damaging	1.00
IGL02735:Med12l	APN	3	59093646	missense	probably damaging	1.00
IGL02865:Med12l	APN	3	59294292	missense	probably damaging	1.00
IGL03183:Med12l	APN	3	59037555	splice site	probably null
IGL03264:Med12l	APN	3	59301367	nonsense	probably null
FR4304:Med12l	UTSW	3	59275982	small insertion	probably benign
FR4340:Med12l	UTSW	3	59275985	small insertion	probably benign
FR4342:Med12l	UTSW	3	59275988	small insertion	probably benign
FR4342:Med12l	UTSW	3	59275994	small insertion	probably benign
FR4449:Med12l	UTSW	3	59275963	nonsense	probably null
FR4548:Med12l	UTSW	3	59275982	small insertion	probably benign
FR4589:Med12l	UTSW	3	59275956	small insertion	probably benign
FR4976:Med12l	UTSW	3	59275977	small insertion	probably benign
P0007:Med12l	UTSW	3	59091395	splice site	probably benign
P0045:Med12l	UTSW	3	59091535	missense	probably damaging	0.99
R0030:Med12l	UTSW	3	59248655	missense	probably damaging	1.00
R0030:Med12l	UTSW	3	59248655	missense	probably damaging	1.00
R0148:Med12l	UTSW	3	59037654	missense	probably damaging	1.00
R0325:Med12l	UTSW	3	59077059	missense	possibly damaging	0.88
R0330:Med12l	UTSW	3	59227702	missense	probably damaging	1.00
R0388:Med12l	UTSW	3	59093504	splice site	probably benign
R0542:Med12l	UTSW	3	59042401	missense	probably damaging	1.00
R0624:Med12l	UTSW	3	59037702	nonsense	probably null
R0625:Med12l	UTSW	3	59247437	missense	probably damaging	1.00
R0706:Med12l	UTSW	3	59261980	missense	probably damaging	1.00
R0785:Med12l	UTSW	3	59260832	missense	probably damaging	1.00
R1054:Med12l	UTSW	3	59248651	missense	probably damaging	0.99
R1102:Med12l	UTSW	3	59244836	missense	probably damaging	0.99
R1391:Med12l	UTSW	3	59037738	missense	probably benign	0.00
R1501:Med12l	UTSW	3	59260835	critical splice donor site	probably null
R1544:Med12l	UTSW	3	59265240	missense	possibly damaging	0.71
R1662:Med12l	UTSW	3	59093617	missense	probably damaging	1.00
R1670:Med12l	UTSW	3	59275958	small insertion	probably benign
R1839:Med12l	UTSW	3	59068319	missense	probably benign
R1854:Med12l	UTSW	3	59260772	missense	probably damaging	1.00
R2045:Med12l	UTSW	3	59262310	nonsense	probably null
R2070:Med12l	UTSW	3	59244905	missense	probably damaging	1.00
R2132:Med12l	UTSW	3	59265282	unclassified	probably null
R2290:Med12l	UTSW	3	59244938	missense	probably damaging	1.00
R2325:Med12l	UTSW	3	59232454	missense	probably damaging	0.99
R2352:Med12l	UTSW	3	59240692	missense	probably damaging	1.00
R2484:Med12l	UTSW	3	59297838	missense	probably benign	0.18
R2906:Med12l	UTSW	3	59257082	missense	probably damaging	1.00
R3735:Med12l	UTSW	3	59091495	missense	probably damaging	1.00
R3736:Med12l	UTSW	3	59091495	missense	probably damaging	1.00
R3774:Med12l	UTSW	3	59247942	missense	probably damaging	0.97
R3957:Med12l	UTSW	3	59073168	missense	probably damaging	0.99
R4020:Med12l	UTSW	3	59247942	missense	probably damaging	0.97
R4087:Med12l	UTSW	3	59297921	missense	probably benign	0.00
R4231:Med12l	UTSW	3	59257223	splice site	probably null
R4233:Med12l	UTSW	3	59257223	splice site	probably null
R4235:Med12l	UTSW	3	59257223	splice site	probably null
R4236:Med12l	UTSW	3	59257223	splice site	probably null
R4327:Med12l	UTSW	3	59265267	missense	probably benign	0.01
R4328:Med12l	UTSW	3	59265267	missense	probably benign	0.01
R4346:Med12l	UTSW	3	59031555	missense	probably damaging	1.00
R4543:Med12l	UTSW	3	59091508	missense	probably damaging	1.00
R4559:Med12l	UTSW	3	59007102	critical splice donor site	probably null
R4776:Med12l	UTSW	3	59233212	missense	probably damaging	1.00
R4877:Med12l	UTSW	3	59244793	missense	probably damaging	1.00
R4983:Med12l	UTSW	3	59261929	missense	probably damaging	1.00
R5114:Med12l	UTSW	3	59259688	missense	possibly damaging	0.85
R5125:Med12l	UTSW	3	59267214	missense	possibly damaging	0.83
R5230:Med12l	UTSW	3	59245788	missense	probably damaging	1.00
R5407:Med12l	UTSW	3	59258201	missense	probably damaging	1.00
R5426:Med12l	UTSW	3	59248722	missense	probably damaging	0.98
R5439:Med12l	UTSW	3	59263213	missense	probably null	1.00
R5449:Med12l	UTSW	3	59259706	missense	probably damaging	1.00
R5596:Med12l	UTSW	3	59252350	missense	probably benign	0.45
R5716:Med12l	UTSW	3	59301377	critical splice donor site	probably null
R5833:Med12l	UTSW	3	59265226	missense	possibly damaging	0.95
R5883:Med12l	UTSW	3	59091468	missense	probably damaging	1.00
R6264:Med12l	UTSW	3	59256002	missense	probably damaging	1.00
R6269:Med12l	UTSW	3	59227822	missense	probably damaging	1.00
R6394:Med12l	UTSW	3	59235087	missense	probably damaging	1.00
R6400:Med12l	UTSW	3	59247911	missense	probably damaging	1.00
R6475:Med12l	UTSW	3	59257079	missense	probably damaging	1.00
R6489:Med12l	UTSW	3	59257407	missense	probably damaging	0.99
R6654:Med12l	UTSW	3	59262292	missense	probably damaging	1.00
R6881:Med12l	UTSW	3	59267165	missense	probably benign	0.00
R7110:Med12l	UTSW	3	59262224	missense	possibly damaging	0.92
R7134:Med12l	UTSW	3	59093759	nonsense	probably null
R7137:Med12l	UTSW	3	59258254	missense	probably damaging	1.00
R7159:Med12l	UTSW	3	59276017	missense	probably benign
R7341:Med12l	UTSW	3	59042403	missense	possibly damaging	0.53
R7349:Med12l	UTSW	3	59258325	missense	probably damaging	1.00
R7413:Med12l	UTSW	3	59091550	missense	probably benign	0.00
R7495:Med12l	UTSW	3	59244773	missense	probably damaging	1.00
X0062:Med12l	UTSW	3	59233179	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGAACTTGCAAAGTCCTGAACCC -3'
(R):5'- GGTTCCTGAGAAACTGGAGACGTG -3'

Sequencing Primer
(F):5'- CCCAGTTCACACTGCTTAGATG -3'
(R):5'- CTGGAGACGTGAGTTCTTCCTC -3'

Posted On

2014-07-25