Mutagenetix > Incidental Mutation

Incidental Mutation 'R6546:Med13l'

521186

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

045325-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R6546 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118698744-118903503 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118859539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 242 (F242S)

Ref Sequence

ENSEMBL: ENSMUSP00000144092 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000100816
AA Change: F242S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000098379
Gene: ENSMUSG00000018076
AA Change: F242S

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: F242S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144092
Gene: ENSMUSG00000018076
AA Change: F242S

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: ENSMUST00000201614

Meta Mutation Damage Score

0.8875

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (35/35)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	T	A	6: 34,776,234 (GRCm39)	L242M	probably damaging	Het
Atad2b	A	T	12: 5,040,949 (GRCm39)	H206L	probably damaging	Het
Bmp2k	A	G	5: 97,235,937 (GRCm39)	Q1120R	probably benign	Het
Cdk18	G	A	1: 132,050,088 (GRCm39)	T29I	probably damaging	Het
Chrna3	T	A	9: 54,923,185 (GRCm39)	I208F	probably damaging	Het
Dhrs1	G	A	14: 55,978,729 (GRCm39)	P140S	possibly damaging	Het
Dnah14	C	T	1: 181,566,552 (GRCm39)	R2775C	probably damaging	Het
Fnip1	T	G	11: 54,393,437 (GRCm39)	N600K	probably benign	Het
Garin5b	T	C	7: 4,761,464 (GRCm39)	D416G	probably benign	Het
Jmjd6	T	C	11: 116,733,326 (GRCm39)	Y117C	probably damaging	Het
Kbtbd4	T	A	2: 90,739,635 (GRCm39)	V340E	probably damaging	Het
Kif26b	T	C	1: 178,755,871 (GRCm39)	V1995A	probably damaging	Het
Krt10	T	C	11: 99,278,221 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,326,074 (GRCm39)	D3022G	probably benign	Het
Map3k13	C	T	16: 21,740,527 (GRCm39)	T618I	probably benign	Het
Mat1a	G	A	14: 40,843,379 (GRCm39)	V302M	probably damaging	Het
Npffr2	A	T	5: 89,730,871 (GRCm39)	K267M	probably damaging	Het
Nup58	A	T	14: 60,460,672 (GRCm39)		probably null	Het
Papss2	A	G	19: 32,640,548 (GRCm39)	Y440C	possibly damaging	Het
Ppil4	T	A	10: 7,674,186 (GRCm39)	I110N	probably damaging	Het
Qrfpr	G	A	3: 36,234,414 (GRCm39)	T309I	probably damaging	Het
Rbl2	C	A	8: 91,796,998 (GRCm39)	S65R	probably benign	Het
Rchy1	G	A	5: 92,105,817 (GRCm39)	H44Y	probably damaging	Het
Slc19a3	T	C	1: 83,004,081 (GRCm39)	T7A	probably benign	Het
St7	C	T	6: 17,852,313 (GRCm39)	A233V	probably damaging	Het
Syn2	T	A	6: 115,258,059 (GRCm39)	S546T	probably benign	Het
Syne1	A	T	10: 5,168,645 (GRCm39)	Y5245*	probably null	Het
Trmt6	A	G	2: 132,654,073 (GRCm39)	W52R	probably benign	Het
Ubr4	G	A	4: 139,141,705 (GRCm39)	V1264M	probably damaging	Het
Ulk4	A	T	9: 120,970,960 (GRCm39)	V1004D	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r27	T	A	6: 124,169,369 (GRCm39)	H587L	possibly damaging	Het
Vmn2r79	A	G	7: 86,652,741 (GRCm39)	R478G	probably benign	Het
Zp2	T	C	7: 119,731,748 (GRCm39)	E669G	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
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
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
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'- ACCACACTGTGAAAGACTTAGG -3'
(R):5'- ATGTGTGCCAGAGTCACCATG -3'

Sequencing Primer
(F):5'- AAGGGCATGAAGTGTAGTGCTCTC -3'
(R):5'- GTCACCATGACAGCACAAGGG -3'

Posted On

2018-06-06