Mutagenetix > Incidental Mutation

Incidental Mutation 'R8508:Med13l'

655691

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

067844-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R8508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118698744-118903503 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118892386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1936 (D1936E)

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: D1927E

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000098379
Gene: ENSMUSG00000018076
AA Change: D1927E

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 benign
Transcript: ENSMUST00000201010
AA Change: D1936E

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144092
Gene: ENSMUSG00000018076
AA Change: D1936E

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

Meta Mutation Damage Score

0.0573

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	G	16: 90,852,500 (GRCm39)	Y212S	probably damaging	Het
Angpt1	T	C	15: 42,375,795 (GRCm39)	N154D	probably damaging	Het
Angpt2	G	A	8: 18,791,135 (GRCm39)	R54*	probably null	Het
Ankrd27	T	A	7: 35,301,051 (GRCm39)	L117*	probably null	Het
Arhgap21	C	T	2: 20,858,991 (GRCm39)	M1234I	probably benign	Het
Arhgef33	A	G	17: 80,674,764 (GRCm39)	E387G	probably damaging	Het
Atp13a4	T	A	16: 29,273,587 (GRCm39)	K444*	probably null	Het
Atp6v1a	G	A	16: 43,922,225 (GRCm39)	R338C	probably damaging	Het
Canx	T	C	11: 50,202,474 (GRCm39)	D44G	possibly damaging	Het
Ccdc141	T	A	2: 76,962,588 (GRCm39)	M119L	probably benign	Het
Ckmt1	A	C	2: 121,193,172 (GRCm39)	Q299P	possibly damaging	Het
Dhx16	T	C	17: 36,196,812 (GRCm39)	S601P	probably damaging	Het
Dna2	A	C	10: 62,786,673 (GRCm39)	R140S	probably damaging	Het
Dock1	A	G	7: 134,384,138 (GRCm39)	T670A	probably benign	Het
Eif1ad10	T	G	12: 88,216,455 (GRCm39)	E139A	unknown	Het
Eogt	A	G	6: 97,120,959 (GRCm39)	S85P	possibly damaging	Het
Fbf1	A	T	11: 116,056,707 (GRCm39)	M1K	probably null	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Flnb	G	A	14: 7,950,394 (GRCm38)	V2571I	probably damaging	Het
Gm43518	A	G	5: 124,076,322 (GRCm39)	E123G	unknown	Het
Gpatch2	A	G	1: 187,036,552 (GRCm39)	N374S	probably benign	Het
Hey1	G	C	3: 8,729,836 (GRCm39)	A207G	probably benign	Het
Hoxa11	T	C	6: 52,222,782 (GRCm39)		probably benign	Het
Hydin	G	A	8: 111,308,650 (GRCm39)	V3979I	probably benign	Het
Ighe	C	T	12: 113,235,413 (GRCm39)	W277*	probably null	Het
Kmt2c	G	T	5: 25,519,120 (GRCm39)	T2330K	probably benign	Het
Krt6a	T	A	15: 101,601,170 (GRCm39)	K261M	probably damaging	Het
Lats2	A	C	14: 57,960,162 (GRCm39)	S161A	probably benign	Het
Mipol1	T	C	12: 57,352,874 (GRCm39)	V71A	possibly damaging	Het
Mphosph8	A	T	14: 56,914,003 (GRCm39)	K415*	probably null	Het
Npepps	A	G	11: 97,135,252 (GRCm39)		probably null	Het
Ntn4	A	T	10: 93,576,966 (GRCm39)	N545Y	possibly damaging	Het
Or11g1	A	C	14: 50,651,132 (GRCm39)	M44L	probably benign	Het
Or1n1b	A	G	2: 36,780,366 (GRCm39)	S165P	probably damaging	Het
Or2m12	T	C	16: 19,105,451 (GRCm39)	D14G	probably benign	Het
Or9i2	A	T	19: 13,815,766 (GRCm39)	M257K	possibly damaging	Het
Osbpl2	T	A	2: 179,797,136 (GRCm39)	V358E	possibly damaging	Het
Pdcd11	C	A	19: 47,108,245 (GRCm39)	P1204Q	probably damaging	Het
Pnliprp2	A	C	19: 58,751,806 (GRCm39)	S184R	probably damaging	Het
Ppm1g	G	T	5: 31,361,872 (GRCm39)	R373S	probably damaging	Het
Rnf130	A	G	11: 49,978,264 (GRCm39)	D275G	probably damaging	Het
Rps18-ps5	A	G	13: 28,441,694 (GRCm39)	I26V	probably benign	Het
Setd5	T	C	6: 113,098,048 (GRCm39)	S696P	probably damaging	Het
Sgip1	A	G	4: 102,772,268 (GRCm39)	Q219R	probably benign	Het
Slc1a2	T	C	2: 102,566,430 (GRCm39)		probably null	Het
Slc22a12	T	C	19: 6,592,467 (GRCm39)	T106A	probably benign	Het
Slc22a14	A	G	9: 119,009,651 (GRCm39)	L148P	probably damaging	Het
Slc2a9	A	T	5: 38,539,421 (GRCm39)	F375I	probably damaging	Het
Sorbs3	A	T	14: 70,440,396 (GRCm39)	D117E	probably benign	Het
Spata31d1e	A	G	13: 59,891,412 (GRCm39)	L136P	probably benign	Het
Sphkap	G	A	1: 83,254,221 (GRCm39)	T1176I	probably damaging	Het
Supt16	A	T	14: 52,419,046 (GRCm39)	V193D	probably damaging	Het
Sytl3	A	G	17: 6,995,690 (GRCm39)	T362A	probably damaging	Het
Tctn1	T	A	5: 122,384,674 (GRCm39)	Q410L	probably benign	Het
Trbc2	T	C	6: 41,524,711 (GRCm39)	Y133H		Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Vmn2r120	A	G	17: 57,832,843 (GRCm39)	V112A	probably benign	Het
Zfp354b	A	T	11: 50,814,297 (GRCm39)	S209R	probably benign	Het
Zfp362	T	C	4: 128,668,399 (GRCm39)	H391R	probably damaging	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
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
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'- ACAGAAGCAGGCTTTTGTTTC -3'
(R):5'- GCTGTGGCCAACAAAGACAG -3'

Sequencing Primer
(F):5'- CTGTGTTAATGCAGTGAGATAGAAAC -3'
(R):5'- CTAGGTCAAAACTCAAGCTTCTG -3'

Posted On

2020-10-20