Mutagenetix > Incidental Mutation

Incidental Mutation 'R6942:Med13l'

540592

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

045056-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R6942 (G1)

Quality Score

152.008

Status

Validated

Chromosome

Chromosomal Location

118698744-118903503 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 118883071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144092 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000100816

SMART Domains

Protein: ENSMUSP00000098379
Gene: ENSMUSG00000018076

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 null
Transcript: ENSMUST00000100816

SMART Domains

Protein: ENSMUSP00000098379
Gene: ENSMUSG00000018076

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 null
Transcript: ENSMUST00000201010

SMART Domains

Protein: ENSMUSP00000144092
Gene: ENSMUSG00000018076

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

probably null
Transcript: ENSMUST00000201010

SMART Domains

Protein: ENSMUSP00000144092
Gene: ENSMUSG00000018076

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.9%
20x: 96.2%

Validation Efficiency

100% (49/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,330,024 (GRCm39)		probably null	Het
Adap2	A	G	11: 80,045,891 (GRCm39)	D57G	probably benign	Het
Atmin	G	T	8: 117,683,452 (GRCm39)	V371F	probably benign	Het
Cacna1h	G	T	17: 25,604,013 (GRCm39)	A1273E	probably benign	Het
Cdh23	G	A	10: 60,274,635 (GRCm39)	T483I	possibly damaging	Het
Cnot9	T	A	1: 74,558,154 (GRCm39)	V100E	probably damaging	Het
Cog2	T	A	8: 125,271,875 (GRCm39)	V463D	probably benign	Het
Crybg3	C	T	16: 59,360,183 (GRCm39)	R2500H	possibly damaging	Het
Cyp11b2	G	A	15: 74,728,094 (GRCm39)		probably benign	Het
Cyp2j12	A	T	4: 96,001,101 (GRCm39)		probably null	Het
Dipk1c	A	C	18: 84,748,549 (GRCm39)	Y49S	possibly damaging	Het
Dlc1	T	C	8: 37,405,364 (GRCm39)	K142E	probably benign	Het
Dpp6	G	A	5: 27,674,457 (GRCm39)	V140M	possibly damaging	Het
Fktn	G	A	4: 53,735,128 (GRCm39)		probably null	Het
Gas7	A	T	11: 67,550,977 (GRCm39)		probably null	Het
Grin3b	T	A	10: 79,811,953 (GRCm39)		probably null	Het
Hhatl	G	A	9: 121,617,246 (GRCm39)	A329V	probably benign	Het
Homer3	C	T	8: 70,744,201 (GRCm39)	T276I	probably benign	Het
Igdcc4	G	A	9: 65,027,550 (GRCm39)	S204N	probably benign	Het
Ino80	A	G	2: 119,213,983 (GRCm39)	F1196L	probably damaging	Het
Iqsec3	C	T	6: 121,450,062 (GRCm39)	C154Y	probably damaging	Het
Kank1	A	T	19: 25,401,537 (GRCm39)	D1048V	possibly damaging	Het
Kif2c	A	G	4: 117,023,575 (GRCm39)	L379P	probably damaging	Het
Kpna6	A	T	4: 129,545,514 (GRCm39)		probably null	Het
Large2	C	T	2: 92,201,167 (GRCm39)	R28H	probably damaging	Het
Map4k2	T	A	19: 6,396,739 (GRCm39)	W552R	possibly damaging	Het
Mark3	A	G	12: 111,559,088 (GRCm39)	I43M	probably null	Het
Mtbp	T	A	15: 55,430,596 (GRCm39)	Y218N	probably damaging	Het
Or52n5	C	T	7: 104,588,104 (GRCm39)	R124C	possibly damaging	Het
Pcdhgb5	T	C	18: 37,865,696 (GRCm39)	L497P	probably damaging	Het
Pkhd1l1	A	G	15: 44,386,025 (GRCm39)	T1221A	probably damaging	Het
Pth1r	C	T	9: 110,557,084 (GRCm39)		probably null	Het
Samd8	T	C	14: 21,825,221 (GRCm39)	I59T	possibly damaging	Het
Scgb2b18	A	G	7: 32,871,564 (GRCm39)	V85A	possibly damaging	Het
Sema6c	G	T	3: 95,080,519 (GRCm39)	V906L	probably benign	Het
Semp2l2b	A	T	10: 21,943,160 (GRCm39)	D273E	probably benign	Het
Serpinb9g	A	T	13: 33,678,888 (GRCm39)	T253S	probably benign	Het
Sipa1l3	T	C	7: 29,085,516 (GRCm39)	T694A	probably damaging	Het
Slc8a1	A	G	17: 81,715,549 (GRCm39)	L828P	probably damaging	Het
Spry1	T	A	3: 37,697,193 (GRCm39)	D145E	probably benign	Het
Stat6	A	T	10: 127,487,131 (GRCm39)	N213Y	probably damaging	Het
Tep1	A	G	14: 51,074,194 (GRCm39)	V1897A	possibly damaging	Het
Tmem45a	T	C	16: 56,646,145 (GRCm39)	N25S	probably benign	Het
Tmem70	T	A	1: 16,747,380 (GRCm39)	Y166N	probably damaging	Het
Trrap	T	A	5: 144,720,853 (GRCm39)	I230N	possibly damaging	Het
Ttn	A	G	2: 76,732,190 (GRCm39)		probably benign	Het
Unc79	T	A	12: 103,088,704 (GRCm39)		probably null	Het
Vmn1r43	T	A	6: 89,847,319 (GRCm39)	I56F	probably benign	Het
Zfyve16	A	T	13: 92,653,139 (GRCm39)	N815K	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
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
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'- AGGAACTTTGTGCTTCTCTGTC -3'
(R):5'- AACAGGCACCATGAGCTGAG -3'

Sequencing Primer
(F):5'- GTGCTTCTCTGTCTTCTGAAAAATC -3'
(R):5'- AGGCCAAGCTCCTTTAGGGAAC -3'

Posted On

2018-11-06