Mutagenetix > Incidental Mutation

Incidental Mutation 'R5765:Med13l'

446217

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

043366-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R5765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118698744-118903503 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118866707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 587 (L587Q)

Ref Sequence

ENSEMBL: ENSMUSP00000144092 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000100816
AA Change: L587Q

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000098379
Gene: ENSMUSG00000018076
AA Change: L587Q

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

probably damaging
Transcript: ENSMUST00000201010
AA Change: L587Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144092
Gene: ENSMUSG00000018076
AA Change: L587Q

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

94% (51/54)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	T	11: 65,044,066 (GRCm39)		probably benign	Het
Abcf2	T	C	5: 24,778,421 (GRCm39)	R246G	probably damaging	Het
Adamts19	G	T	18: 59,185,654 (GRCm39)	C1176F	probably damaging	Het
Adh7	G	A	3: 137,932,090 (GRCm39)	V235I	probably benign	Het
Aoc1l1	C	T	6: 48,955,471 (GRCm39)	P694S	probably damaging	Het
Caprin2	G	C	6: 148,744,666 (GRCm39)	P701A	probably damaging	Het
Casp7	T	C	19: 56,422,315 (GRCm39)	V110A	possibly damaging	Het
Cd1d2	A	T	3: 86,894,549 (GRCm39)	M106L	probably benign	Het
Cntnap2	C	T	6: 46,506,749 (GRCm39)		probably benign	Het
Cpm	A	G	10: 117,507,638 (GRCm39)	I252V	probably benign	Het
Dnaaf2	A	C	12: 69,239,627 (GRCm39)	I631M	probably damaging	Het
Fads2b	T	G	2: 85,314,538 (GRCm39)		probably null	Het
Fam117b	A	G	1: 60,009,631 (GRCm39)		probably null	Het
Fbxw22	T	C	9: 109,214,064 (GRCm39)	M251V	probably benign	Het
Fignl1	T	C	11: 11,752,011 (GRCm39)		probably null	Het
Foxp1	G	A	6: 98,992,423 (GRCm39)	L156F	probably damaging	Het
Gdap1	A	T	1: 17,231,650 (GRCm39)	M332L	probably benign	Het
H2-M3	T	C	17: 37,583,334 (GRCm39)	F265S	probably damaging	Het
Il1rl1	C	T	1: 40,501,103 (GRCm39)	A493V	probably benign	Het
Iqce	A	G	5: 140,651,895 (GRCm39)	S359P	probably damaging	Het
Kif2b	C	T	11: 91,468,068 (GRCm39)	E72K	probably benign	Het
Luzp1	T	C	4: 136,268,340 (GRCm39)	S188P	probably damaging	Het
Mocs2	A	G	13: 114,962,692 (GRCm39)		probably null	Het
Mtnr1b	T	C	9: 15,774,459 (GRCm39)	Y200C	probably damaging	Het
Nalcn	C	T	14: 123,702,138 (GRCm39)	V458I	possibly damaging	Het
Nbea	C	T	3: 55,912,719 (GRCm39)	V1023I	probably benign	Het
Nbeal1	T	A	1: 60,331,006 (GRCm39)	V2205D	probably damaging	Het
Nfe2l3	A	G	6: 51,434,226 (GRCm39)	D262G	probably damaging	Het
Nsfl1c	T	C	2: 151,346,085 (GRCm39)	Y169H	probably damaging	Het
Pcdhac1	A	T	18: 37,223,372 (GRCm39)	R62*	probably null	Het
Pcdhga1	A	G	18: 37,796,714 (GRCm39)	T573A	probably benign	Het
Plin4	C	T	17: 56,409,470 (GRCm39)	C1276Y	possibly damaging	Het
Ppp6r1	C	A	7: 4,645,207 (GRCm39)	R220L	possibly damaging	Het
Ptprz1	T	G	6: 23,000,235 (GRCm39)	V775G	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc17a6	A	G	7: 51,275,249 (GRCm39)	T103A	possibly damaging	Het
Spock1	A	T	13: 57,577,217 (GRCm39)	L404Q	probably benign	Het
Stradb	C	A	1: 59,031,903 (GRCm39)	H272N	probably benign	Het
Strn3	A	G	12: 51,680,410 (GRCm39)	S397P	probably benign	Het
Synpo2l	C	T	14: 20,716,198 (GRCm39)	R126H	possibly damaging	Het
Tas2r104	A	G	6: 131,662,236 (GRCm39)	Y158H	probably benign	Het
Tiparp	T	A	3: 65,438,771 (GRCm39)	I29N	possibly damaging	Het
Tnpo1	G	A	13: 98,996,349 (GRCm39)	T484M	probably benign	Het
Tsc22d4	A	G	5: 137,756,805 (GRCm39)	I78V	probably benign	Het
Ugt2b1	T	C	5: 87,067,265 (GRCm39)	Y386C	probably benign	Het
Ugt2b38	A	G	5: 87,571,954 (GRCm39)	V26A	probably damaging	Het
Vmn2r116	G	A	17: 23,620,378 (GRCm39)	C704Y	probably damaging	Het
Vmn2r97	T	A	17: 19,167,442 (GRCm39)	Y565*	probably null	Het
Zfand2b	T	A	1: 75,147,171 (GRCm39)		probably null	Het
Zzef1	C	T	11: 72,712,763 (GRCm39)	Q228*	probably null	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
R0959:Med13l	UTSW	5	118,892,350 (GRCm39)	missense	possibly damaging	0.89
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
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'- AGGGATAGACGCCTCCTTAGAG -3'
(R):5'- AGGGCAGTGTCAAACCTCTC -3'

Sequencing Primer
(F):5'- GGCCGTGCCTTCCAGAAATAC -3'
(R):5'- AGTGTCAAACCTCTCCCCCTG -3'

Posted On

2016-11-21