Mutagenetix > Incidental Mutation

Incidental Mutation 'R8266:Med13l'

639623

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

067691-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R8266 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118698744-118903503 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 118880174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 1089 (S1089A)

Ref Sequence

ENSEMBL: ENSMUSP00000098379 (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: S1089A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000098379
Gene: ENSMUSG00000018076
AA Change: S1089A

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: S1089A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144092
Gene: ENSMUSG00000018076
AA Change: S1089A

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (57/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	A	2: 30,691,254 (GRCm39)	N106Y	possibly damaging	Het
A630073D07Rik	C	T	6: 132,604,380 (GRCm39)	D22N	probably null	Het
Abcf2	CAT	CATAAT	5: 24,781,589 (GRCm39)		probably benign	Het
Ago3	T	A	4: 126,270,721 (GRCm39)	K258*	probably null	Het
AW146154	G	A	7: 41,130,592 (GRCm39)	R175*	probably null	Het
Bmp8a	G	A	4: 123,209,626 (GRCm39)	T354I	probably benign	Het
C7	T	A	15: 5,037,141 (GRCm39)	D579V	probably damaging	Het
Cacna1a	A	G	8: 85,285,848 (GRCm39)	N831S	probably damaging	Het
Ccpg1	G	A	9: 72,913,001 (GRCm39)	R179H	probably damaging	Het
Cep290	A	G	10: 100,395,533 (GRCm39)	K2114E	probably benign	Het
Cfap20dc	G	A	14: 8,482,599 (GRCm38)	Q525*	probably null	Het
Chrnb1	T	C	11: 69,675,447 (GRCm39)	*502W	probably null	Het
Col16a1	G	A	4: 129,959,224 (GRCm39)	V657M	unknown	Het
Crem	A	T	18: 3,309,535 (GRCm39)		probably benign	Het
Cyp3a25	A	T	5: 145,929,796 (GRCm39)	V191E	probably damaging	Het
Dmxl1	T	C	18: 49,976,878 (GRCm39)	I80T	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Exoc6	A	G	19: 37,565,497 (GRCm39)	D191G	probably benign	Het
F5	G	T	1: 164,012,693 (GRCm39)		probably null	Het
Foxf2	AGCCTCCTTACTCG	AGCCTCCTTACTCGCCTCCTTACTCG	13: 31,810,361 (GRCm39)		probably benign	Het
Fuca2	T	A	10: 13,388,633 (GRCm39)		probably benign	Het
Gm13102	A	T	4: 143,835,682 (GRCm39)	D450V	probably damaging	Het
Gm527	T	C	12: 64,967,719 (GRCm39)	L47P	probably damaging	Het
Gm5849	T	C	3: 90,685,158 (GRCm39)	E9G	probably damaging	Het
Grik1	A	G	16: 87,744,867 (GRCm39)	Y376H	probably benign	Het
Hrob	T	A	11: 102,153,046 (GRCm39)	V569E	possibly damaging	Het
Isl2	A	G	9: 55,451,408 (GRCm39)	Q187R	probably benign	Het
Kat6b	C	T	14: 21,566,913 (GRCm39)		probably benign	Het
Lpar3	C	T	3: 145,946,385 (GRCm39)	T21I	probably benign	Het
Map4k4	A	G	1: 40,050,813 (GRCm39)	T759A	possibly damaging	Het
Map7d1	G	A	4: 126,132,353 (GRCm39)	S273L	probably damaging	Het
Mcm3ap	A	T	10: 76,312,414 (GRCm39)	K498*	probably null	Het
Mybphl	T	C	3: 108,284,676 (GRCm39)	Y308H	probably damaging	Het
Or2o1	T	A	11: 49,051,352 (GRCm39)	Y170*	probably null	Het
Or51ai2	T	C	7: 103,586,746 (GRCm39)	V53A	probably damaging	Het
Pde6a	T	A	18: 61,391,284 (GRCm39)	V543E	probably damaging	Het
Pdilt	C	T	7: 119,088,604 (GRCm39)	D466N	probably benign	Het
Pole	T	C	5: 110,442,786 (GRCm39)	V313A	probably damaging	Het
Ppfia1	T	C	7: 144,068,231 (GRCm39)	R439G	possibly damaging	Het
Reg1	T	A	6: 78,404,342 (GRCm39)	V72E	possibly damaging	Het
Reln	T	A	5: 22,223,085 (GRCm39)	I983F	possibly damaging	Het
Rnft2	T	A	5: 118,375,623 (GRCm39)	D42V	possibly damaging	Het
Rps6ka1	A	G	4: 133,590,995 (GRCm39)	Y350H	probably damaging	Het
Sec61a2	A	G	2: 5,881,650 (GRCm39)		probably null	Het
Septin2	T	C	1: 93,429,248 (GRCm39)	V239A	possibly damaging	Het
Sigirr	T	C	7: 140,671,662 (GRCm39)	T374A	unknown	Het
Six4	T	A	12: 73,155,423 (GRCm39)	I507F	possibly damaging	Het
Ska1	T	C	18: 74,337,412 (GRCm39)	I45V	probably benign	Het
Spink2	T	G	5: 77,359,213 (GRCm39)	R3S	unknown	Het
Stox2	C	T	8: 47,645,060 (GRCm39)	G800D	probably damaging	Het
Tmem121b	T	C	6: 120,469,193 (GRCm39)	E508G	probably damaging	Het
Tmx4	T	C	2: 134,481,461 (GRCm39)	Y154C	unknown	Het
Usp34	T	A	11: 23,436,810 (GRCm39)		probably benign	Het
Vmn2r27	A	G	6: 124,168,937 (GRCm39)	V731A	probably benign	Het
Wdr72	A	T	9: 74,050,774 (GRCm39)	M89L	probably damaging	Het
Xirp2	A	T	2: 67,338,918 (GRCm39)	K386N	probably damaging	Het
Zfp113	C	T	5: 138,148,881 (GRCm39)	V88M	probably damaging	Het
Zfp609	G	T	9: 65,610,996 (GRCm39)	R656S	possibly 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
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'- AGCTGGAGTTCTCCCATCTC -3'
(R):5'- TTGTAGCCAAGTTTACGGTTCAC -3'

Sequencing Primer
(F):5'- GGAGTTCTCCCATCTCCAGCTAC -3'
(R):5'- AGCGGTACTGGTCCTCCTTG -3'

Posted On

2020-07-28