Mutagenetix > Incidental Mutation

Incidental Mutation 'R0959:Med13l'

81762

Institutional Source

Beutler Lab

Gene Symbol

Med13l

Ensembl Gene

ENSMUSG00000018076

Gene Name

mediator complex subunit 13-like

Synonyms

9030618F05Rik, Trap240L, 6330591G05Rik, Thrap2, 2210413I17Rik

MMRRC Submission

039088-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R0959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118698744-118903503 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118892350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 1924 (E1924D)

Ref Sequence

ENSEMBL: ENSMUSP00000144092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100816] [ENSMUST00000201010]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100816
AA Change: E1915D

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098379
Gene: ENSMUSG00000018076
AA Change: E1915D

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000201010
AA Change: E1924D

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144092
Gene: ENSMUSG00000018076
AA Change: E1924D

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202787

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 95.8%
20x: 89.6%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,808,434 (GRCm39)	V919A	probably damaging	Het
Adam28	G	A	14: 68,845,387 (GRCm39)	P761L	possibly damaging	Het
Aoc1l3	T	A	6: 48,965,566 (GRCm39)	C525S	possibly damaging	Het
Aplf	G	A	6: 87,623,065 (GRCm39)	P338L	probably benign	Het
Arl5b	T	A	2: 15,077,942 (GRCm39)	I89N	probably damaging	Het
Asap2	T	C	12: 21,297,320 (GRCm39)	V596A	probably damaging	Het
Baz1b	T	G	5: 135,273,076 (GRCm39)	F1400C	probably damaging	Het
Ccdc149	A	T	5: 52,542,497 (GRCm39)	L365Q	probably damaging	Het
Ccdc60	A	G	5: 116,318,870 (GRCm39)	S149P	probably damaging	Het
Ces1b	A	G	8: 93,794,775 (GRCm39)	C275R	probably damaging	Het
Creb3	T	C	4: 43,563,509 (GRCm39)	L163P	probably damaging	Het
Dhx37	T	G	5: 125,500,496 (GRCm39)	N570T	probably benign	Het
Epc1	T	C	18: 6,453,657 (GRCm39)	N223D	probably damaging	Het
Gbp5	C	T	3: 142,208,885 (GRCm39)	H143Y	possibly damaging	Het
Gfod1	A	T	13: 43,456,905 (GRCm39)	D23E	probably benign	Het
Gm7361	A	T	5: 26,467,051 (GRCm39)	E223D	possibly damaging	Het
Izumo1	A	G	7: 45,274,415 (GRCm39)	K161E	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Lrp1b	T	C	2: 41,158,366 (GRCm39)	N1617S	possibly damaging	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtg2	T	G	2: 179,725,221 (GRCm39)	S145A	probably benign	Het
Mug2	G	A	6: 122,062,454 (GRCm39)	S1442N	probably benign	Het
Myo1b	A	T	1: 51,836,246 (GRCm39)	I315N	probably damaging	Het
Naip2	G	A	13: 100,291,386 (GRCm39)	T1184M	probably benign	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Nsrp1	G	A	11: 76,937,285 (GRCm39)	R304*	probably null	Het
Or2a56	G	T	6: 42,932,686 (GRCm39)	V85L	probably benign	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Parp4	T	C	14: 56,885,576 (GRCm39)	F1552L	unknown	Het
Pigw	G	A	11: 84,769,033 (GRCm39)	H99Y	probably benign	Het
Ppp6r2	G	A	15: 89,158,379 (GRCm39)	M444I	possibly damaging	Het
Rchy1	A	G	5: 92,105,476 (GRCm39)	F82L	probably damaging	Het
Reln	A	C	5: 22,432,626 (GRCm39)	F125V	probably damaging	Het
Riok1	G	A	13: 38,241,149 (GRCm39)	E435K	probably damaging	Het
Rnf213	A	G	11: 119,343,407 (GRCm39)	R3590G	probably damaging	Het
Scart2	A	G	7: 139,874,704 (GRCm39)	E394G	probably damaging	Het
Scrib	G	C	15: 75,923,310 (GRCm39)	P1249A	probably benign	Het
Shc4	C	T	2: 125,520,607 (GRCm39)		probably null	Het
Slc12a2	T	A	18: 58,037,450 (GRCm39)	I520N	probably damaging	Het
Slc26a5	A	G	5: 22,021,959 (GRCm39)	I484T	probably benign	Het
Slc39a11	G	T	11: 113,354,899 (GRCm39)	T110K	probably benign	Het
Snd1	T	A	6: 28,884,970 (GRCm39)	S774T	probably benign	Het
Spata31d1c	C	T	13: 65,184,129 (GRCm39)	P557L	probably damaging	Het
Tada1	A	G	1: 166,216,198 (GRCm39)	D133G	probably benign	Het
Tg	A	T	15: 66,579,859 (GRCm39)	T1555S	probably damaging	Het
Thra	A	G	11: 98,644,455 (GRCm39)	E15G	possibly damaging	Het
Timd5	A	T	11: 46,427,247 (GRCm39)	R187*	probably null	Het
Ttn	T	A	2: 76,625,440 (GRCm39)	I15128F	probably damaging	Het
Ube2r2	A	G	4: 41,174,066 (GRCm39)	Y68C	probably damaging	Het
Uncx	A	T	5: 139,532,442 (GRCm39)	N169I	probably damaging	Het
Vmn2r100	A	G	17: 19,743,786 (GRCm39)	Y483C	possibly damaging	Het
Xkr4	T	C	1: 3,286,897 (GRCm39)	D431G	probably damaging	Het
Xylb	C	A	9: 119,209,091 (GRCm39)	A311E	possibly damaging	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	probably benign	Het
Zbtb39	C	A	10: 127,578,931 (GRCm39)	H502N	probably damaging	Het
Zfp82	A	G	7: 29,755,876 (GRCm39)	L402P	probably damaging	Het
Zpbp2	G	A	11: 98,448,451 (GRCm39)	R256Q	probably benign	Het

Other mutations in Med13l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Med13l	APN	5	118,862,136 (GRCm39)	missense	probably damaging	0.99
IGL01012:Med13l	APN	5	118,872,093 (GRCm39)	missense	probably damaging	0.99
IGL01316:Med13l	APN	5	118,900,846 (GRCm39)	missense	probably damaging	1.00
IGL01529:Med13l	APN	5	118,880,400 (GRCm39)	missense	probably damaging	1.00
IGL01731:Med13l	APN	5	118,880,472 (GRCm39)	missense	probably benign	0.05
IGL01790:Med13l	APN	5	118,731,587 (GRCm39)	missense	probably damaging	1.00
IGL02394:Med13l	APN	5	118,886,898 (GRCm39)	missense	probably benign	0.37
IGL02432:Med13l	APN	5	118,876,465 (GRCm39)	missense	possibly damaging	0.90
IGL02698:Med13l	APN	5	118,900,894 (GRCm39)	missense	probably damaging	0.99
IGL02801:Med13l	APN	5	118,883,178 (GRCm39)	missense	probably damaging	1.00
IGL03242:Med13l	APN	5	118,885,510 (GRCm39)	missense	probably benign
IGL03270:Med13l	APN	5	118,869,495 (GRCm39)	missense	probably damaging	1.00
Basics	UTSW	5	118,897,329 (GRCm39)	critical splice donor site	probably null
firmament	UTSW	5	118,883,071 (GRCm39)	splice site	probably null
Fundament	UTSW	5	118,859,539 (GRCm39)	missense	probably damaging	1.00
Root	UTSW	5	118,731,510 (GRCm39)	missense	probably damaging	1.00
P0035:Med13l	UTSW	5	118,880,685 (GRCm39)	missense	probably benign	0.00
R0051:Med13l	UTSW	5	118,880,720 (GRCm39)	missense	probably damaging	1.00
R0051:Med13l	UTSW	5	118,880,720 (GRCm39)	missense	probably damaging	1.00
R0136:Med13l	UTSW	5	118,862,115 (GRCm39)	missense	probably benign	0.15
R0158:Med13l	UTSW	5	118,880,514 (GRCm39)	missense	unknown
R0197:Med13l	UTSW	5	118,809,067 (GRCm39)	splice site	probably benign
R0370:Med13l	UTSW	5	118,879,891 (GRCm39)	missense	probably benign	0.14
R0492:Med13l	UTSW	5	118,876,560 (GRCm39)	missense	probably damaging	1.00
R0532:Med13l	UTSW	5	118,897,188 (GRCm39)	missense	possibly damaging	0.78
R0726:Med13l	UTSW	5	118,886,749 (GRCm39)	missense	probably damaging	0.99
R0738:Med13l	UTSW	5	118,889,698 (GRCm39)	missense	probably damaging	0.99
R0827:Med13l	UTSW	5	118,864,312 (GRCm39)	splice site	probably benign
R0883:Med13l	UTSW	5	118,809,067 (GRCm39)	splice site	probably benign
R1458:Med13l	UTSW	5	118,876,524 (GRCm39)	missense	probably benign	0.00
R1562:Med13l	UTSW	5	118,876,584 (GRCm39)	missense	probably damaging	1.00
R1577:Med13l	UTSW	5	118,859,457 (GRCm39)	missense	probably damaging	1.00
R1661:Med13l	UTSW	5	118,887,813 (GRCm39)	missense	probably damaging	1.00
R1665:Med13l	UTSW	5	118,887,813 (GRCm39)	missense	probably damaging	1.00
R1720:Med13l	UTSW	5	118,880,060 (GRCm39)	missense	probably damaging	1.00
R1929:Med13l	UTSW	5	118,866,898 (GRCm39)	missense	probably benign	0.01
R1967:Med13l	UTSW	5	118,899,387 (GRCm39)	missense	probably damaging	0.99
R2301:Med13l	UTSW	5	118,731,512 (GRCm39)	missense	probably damaging	1.00
R3691:Med13l	UTSW	5	118,859,562 (GRCm39)	missense	probably benign	0.16
R3895:Med13l	UTSW	5	118,899,388 (GRCm39)	missense	probably null	0.99
R4043:Med13l	UTSW	5	118,731,528 (GRCm39)	missense	probably damaging	1.00
R4593:Med13l	UTSW	5	118,880,625 (GRCm39)	missense	probably damaging	1.00
R4902:Med13l	UTSW	5	118,883,195 (GRCm39)	missense	probably damaging	1.00
R4995:Med13l	UTSW	5	118,869,014 (GRCm39)	missense	possibly damaging	0.90
R5010:Med13l	UTSW	5	118,731,615 (GRCm39)	missense	possibly damaging	0.95
R5057:Med13l	UTSW	5	118,856,558 (GRCm39)	missense	probably damaging	1.00
R5369:Med13l	UTSW	5	118,862,075 (GRCm39)	missense	probably benign	0.02
R5446:Med13l	UTSW	5	118,880,462 (GRCm39)	missense	possibly damaging	0.81
R5564:Med13l	UTSW	5	118,880,105 (GRCm39)	missense	probably damaging	1.00
R5566:Med13l	UTSW	5	118,866,730 (GRCm39)	missense	possibly damaging	0.95
R5580:Med13l	UTSW	5	118,889,695 (GRCm39)	missense	possibly damaging	0.95
R5634:Med13l	UTSW	5	118,698,915 (GRCm39)	missense	possibly damaging	0.88
R5748:Med13l	UTSW	5	118,731,510 (GRCm39)	missense	probably damaging	1.00
R5764:Med13l	UTSW	5	118,866,707 (GRCm39)	missense	probably damaging	0.99
R5765:Med13l	UTSW	5	118,866,707 (GRCm39)	missense	probably damaging	0.99
R6083:Med13l	UTSW	5	118,859,551 (GRCm39)	missense	possibly damaging	0.80
R6504:Med13l	UTSW	5	118,892,386 (GRCm39)	missense	probably benign	0.34
R6546:Med13l	UTSW	5	118,859,539 (GRCm39)	missense	probably damaging	1.00
R6797:Med13l	UTSW	5	118,897,329 (GRCm39)	critical splice donor site	probably null
R6911:Med13l	UTSW	5	118,893,723 (GRCm39)	missense	possibly damaging	0.95
R6942:Med13l	UTSW	5	118,883,071 (GRCm39)	splice site	probably null
R7018:Med13l	UTSW	5	118,890,051 (GRCm39)	missense	probably damaging	0.99
R7096:Med13l	UTSW	5	118,859,991 (GRCm39)	missense	possibly damaging	0.90
R7113:Med13l	UTSW	5	118,864,330 (GRCm39)	missense	probably benign	0.09
R7136:Med13l	UTSW	5	118,859,587 (GRCm39)	missense	possibly damaging	0.90
R7140:Med13l	UTSW	5	118,880,037 (GRCm39)	missense	probably benign	0.27
R7345:Med13l	UTSW	5	118,880,825 (GRCm39)	missense	probably damaging	1.00
R7409:Med13l	UTSW	5	118,892,386 (GRCm39)	missense	probably benign	0.34
R7410:Med13l	UTSW	5	118,698,897 (GRCm39)	missense	possibly damaging	0.94
R7432:Med13l	UTSW	5	118,890,003 (GRCm39)	missense	probably damaging	0.99
R7486:Med13l	UTSW	5	118,866,539 (GRCm39)	missense	probably benign	0.17
R7509:Med13l	UTSW	5	118,886,995 (GRCm39)	missense	probably damaging	0.97
R7722:Med13l	UTSW	5	118,885,472 (GRCm39)	missense	probably benign	0.32
R7802:Med13l	UTSW	5	118,866,655 (GRCm39)	missense	probably benign	0.03
R8081:Med13l	UTSW	5	118,866,333 (GRCm39)	missense	probably damaging	1.00
R8260:Med13l	UTSW	5	118,886,794 (GRCm39)	missense	possibly damaging	0.95
R8266:Med13l	UTSW	5	118,880,174 (GRCm39)	missense	probably damaging	1.00
R8347:Med13l	UTSW	5	118,880,662 (GRCm39)	missense	probably benign
R8365:Med13l	UTSW	5	118,866,709 (GRCm39)	missense	possibly damaging	0.81
R8508:Med13l	UTSW	5	118,892,386 (GRCm39)	missense	probably benign	0.34
R8920:Med13l	UTSW	5	118,885,543 (GRCm39)	nonsense	probably null
R8970:Med13l	UTSW	5	118,883,164 (GRCm39)	missense	probably damaging	1.00
R8994:Med13l	UTSW	5	118,866,226 (GRCm39)	missense	possibly damaging	0.78
R9045:Med13l	UTSW	5	118,880,816 (GRCm39)	missense	probably benign
R9401:Med13l	UTSW	5	118,883,089 (GRCm39)	missense	probably benign	0.14
R9445:Med13l	UTSW	5	118,862,214 (GRCm39)	missense	probably benign	0.00
R9446:Med13l	UTSW	5	118,876,567 (GRCm39)	missense	probably benign	0.11
R9714:Med13l	UTSW	5	118,866,438 (GRCm39)	missense	probably benign	0.44
R9777:Med13l	UTSW	5	118,887,024 (GRCm39)	missense	probably benign
R9781:Med13l	UTSW	5	118,868,032 (GRCm39)	missense	possibly damaging	0.60
R9797:Med13l	UTSW	5	118,880,144 (GRCm39)	missense	probably damaging	1.00
X0065:Med13l	UTSW	5	118,867,948 (GRCm39)	missense	probably damaging	1.00
Z1088:Med13l	UTSW	5	118,887,706 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTTTAGCACCTGCATCTGCCAGGG -3'
(R):5'- ATTCATCGTCAGCAACAGCAGAGG -3'

Sequencing Primer
(F):5'- GTACTCTACAGACAGATGGAAGCC -3'
(R):5'- TCCTATGACCAGGAGACTAGGC -3'

Posted On

2013-11-08