Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02801:Med13l'

360208

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Med13l

Ensembl Gene

ENSMUSG00000018076

Gene Name

mediator complex subunit 13-like

Synonyms

9030618F05Rik, Thrap2, 6330591G05Rik, 2210413I17Rik, Trap240L

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

IGL02801

Quality Score

Status

Chromosome

Chromosomal Location

118560679-118765438 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118745113 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 1346 (W1346R)

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: W1346R

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

SMART Domains

Protein: ENSMUSP00000098379
Gene: ENSMUSG00000018076
AA Change: W1346R

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: W1346R

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

SMART Domains

Protein: ENSMUSP00000144092
Gene: ENSMUSG00000018076
AA Change: W1346R

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

Coding Region Coverage

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap5	A	T	12: 76,328,995 (GRCm38)	K400N	probably benign	Het
Aox2	A	T	1: 58,354,177 (GRCm38)	I1193F	probably damaging	Het
Arhgef16	A	T	4: 154,291,507 (GRCm38)	L10Q	probably damaging	Het
Arl10	T	C	13: 54,575,883 (GRCm38)	V106A	probably benign	Het
Bmi1	T	C	2: 18,681,881 (GRCm38)	Y24H	probably damaging	Het
Cd163	T	A	6: 124,320,529 (GRCm38)	I878K	probably benign	Het
Col12a1	A	G	9: 79,608,414 (GRCm38)		probably null	Het
Csmd2	T	C	4: 128,552,075 (GRCm38)		probably null	Het
Dcp2	G	T	18: 44,417,711 (GRCm38)	M417I	probably damaging	Het
Ddx11	T	A	17: 66,148,033 (GRCm38)	C662S	probably benign	Het
Dhx29	G	A	13: 112,964,646 (GRCm38)	C1241Y	probably damaging	Het
Dnajc6	C	T	4: 101,597,813 (GRCm38)	P37L	probably benign	Het
Dqx1	A	G	6: 83,060,495 (GRCm38)		probably null	Het
Dzip1	T	A	14: 118,885,655 (GRCm38)	K643*	probably null	Het
Ecel1	A	G	1: 87,152,003 (GRCm38)	S463P	probably damaging	Het
Eml5	A	G	12: 98,817,845 (GRCm38)	V1361A	possibly damaging	Het
Fads2	C	A	19: 10,082,645 (GRCm38)	A222S	possibly damaging	Het
Fancd2	A	G	6: 113,593,317 (GRCm38)	N1410D	probably benign	Het
Fbxw16	A	G	9: 109,441,076 (GRCm38)	F199S	possibly damaging	Het
Frem2	A	G	3: 53,652,175 (GRCm38)	V1637A	possibly damaging	Het
Gabrg2	A	G	11: 41,912,393 (GRCm38)	S442P	probably damaging	Het
Gprin3	T	C	6: 59,354,981 (GRCm38)	T114A	possibly damaging	Het
Hoxd8	A	G	2: 74,706,568 (GRCm38)	E27G	probably damaging	Het
Isl2	A	G	9: 55,545,532 (GRCm38)		probably null	Het
Lamc2	T	A	1: 153,136,783 (GRCm38)	H715L	probably benign	Het
Lrif1	T	C	3: 106,734,614 (GRCm38)	V102A	possibly damaging	Het
Lrrc39	A	G	3: 116,578,346 (GRCm38)	N254S	possibly damaging	Het
Melk	T	C	4: 44,360,930 (GRCm38)	I570T	probably damaging	Het
Mlkl	G	A	8: 111,316,432 (GRCm38)	T361M	probably benign	Het
Myo1f	T	A	17: 33,578,137 (GRCm38)	M94K	probably damaging	Het
Naip1	A	G	13: 100,444,368 (GRCm38)	C124R	probably damaging	Het
Nek1	G	A	8: 61,121,061 (GRCm38)		probably null	Het
Nrn1	C	A	13: 36,730,106 (GRCm38)		probably null	Het
Pde1c	G	T	6: 56,173,666 (GRCm38)	N289K	probably damaging	Het
Pfas	G	A	11: 68,988,277 (GRCm38)		probably benign	Het
Pms2	A	T	5: 143,925,835 (GRCm38)	I587F	probably benign	Het
Ppargc1b	T	C	18: 61,307,684 (GRCm38)	E721G	possibly damaging	Het
Ppp2r1b	A	G	9: 50,878,827 (GRCm38)	I435V	probably benign	Het
Psip1	C	T	4: 83,458,120 (GRCm38)	S494N	probably benign	Het
Ranbp3	T	C	17: 56,710,766 (GRCm38)	V474A	probably benign	Het
Rnf220	C	T	4: 117,273,251 (GRCm38)	C259Y	probably damaging	Het
Sdr16c6	T	C	4: 4,076,603 (GRCm38)	I99V	probably benign	Het
Slc36a1	A	T	11: 55,226,053 (GRCm38)	I303F	probably benign	Het
Slc4a1	C	T	11: 102,359,146 (GRCm38)		probably null	Het
Syncrip	A	T	9: 88,479,809 (GRCm38)	D84E	probably damaging	Het
Tbc1d9b	T	C	11: 50,152,830 (GRCm38)	Y593H	probably damaging	Het
Tenm2	G	T	11: 36,047,030 (GRCm38)	Y1605*	probably null	Het
Tmem135	T	A	7: 89,154,125 (GRCm38)	H280L	probably benign	Het
Tmem229a	T	A	6: 24,955,122 (GRCm38)	Q211L	probably benign	Het
Txlna	T	C	4: 129,640,408 (GRCm38)	D5G	probably damaging	Het
Vmn2r57	T	C	7: 41,448,632 (GRCm38)	I4V	probably benign	Het
Wdfy3	A	G	5: 101,907,587 (GRCm38)	L1539S	probably damaging	Het
Zdhhc14	T	G	17: 5,726,819 (GRCm38)		probably null	Het

Other mutations in Med13l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Med13l	APN	5	118,724,071 (GRCm38)	missense	probably damaging	0.99
IGL01012:Med13l	APN	5	118,734,028 (GRCm38)	missense	probably damaging	0.99
IGL01316:Med13l	APN	5	118,762,781 (GRCm38)	missense	probably damaging	1.00
IGL01529:Med13l	APN	5	118,742,335 (GRCm38)	missense	probably damaging	1.00
IGL01731:Med13l	APN	5	118,742,407 (GRCm38)	missense	probably benign	0.05
IGL01790:Med13l	APN	5	118,593,522 (GRCm38)	missense	probably damaging	1.00
IGL02394:Med13l	APN	5	118,748,833 (GRCm38)	missense	probably benign	0.37
IGL02432:Med13l	APN	5	118,738,400 (GRCm38)	missense	possibly damaging	0.90
IGL02698:Med13l	APN	5	118,762,829 (GRCm38)	missense	probably damaging	0.99
IGL03242:Med13l	APN	5	118,747,445 (GRCm38)	missense	probably benign
IGL03270:Med13l	APN	5	118,731,430 (GRCm38)	missense	probably damaging	1.00
Basics	UTSW	5	118,759,264 (GRCm38)	critical splice donor site	probably null
firmament	UTSW	5	118,745,006 (GRCm38)	splice site	probably null
Fundament	UTSW	5	118,721,474 (GRCm38)	missense	probably damaging	1.00
Root	UTSW	5	118,593,445 (GRCm38)	missense	probably damaging	1.00
P0035:Med13l	UTSW	5	118,742,620 (GRCm38)	missense	probably benign	0.00
R0051:Med13l	UTSW	5	118,742,655 (GRCm38)	missense	probably damaging	1.00
R0051:Med13l	UTSW	5	118,742,655 (GRCm38)	missense	probably damaging	1.00
R0136:Med13l	UTSW	5	118,724,050 (GRCm38)	missense	probably benign	0.15
R0158:Med13l	UTSW	5	118,742,449 (GRCm38)	missense	unknown
R0197:Med13l	UTSW	5	118,671,002 (GRCm38)	splice site	probably benign
R0370:Med13l	UTSW	5	118,741,826 (GRCm38)	missense	probably benign	0.14
R0492:Med13l	UTSW	5	118,738,495 (GRCm38)	missense	probably damaging	1.00
R0532:Med13l	UTSW	5	118,759,123 (GRCm38)	missense	possibly damaging	0.78
R0726:Med13l	UTSW	5	118,748,684 (GRCm38)	missense	probably damaging	0.99
R0738:Med13l	UTSW	5	118,751,633 (GRCm38)	missense	probably damaging	0.99
R0827:Med13l	UTSW	5	118,726,247 (GRCm38)	splice site	probably benign
R0883:Med13l	UTSW	5	118,671,002 (GRCm38)	splice site	probably benign
R0959:Med13l	UTSW	5	118,754,285 (GRCm38)	missense	possibly damaging	0.89
R1458:Med13l	UTSW	5	118,738,459 (GRCm38)	missense	probably benign	0.00
R1562:Med13l	UTSW	5	118,738,519 (GRCm38)	missense	probably damaging	1.00
R1577:Med13l	UTSW	5	118,721,392 (GRCm38)	missense	probably damaging	1.00
R1661:Med13l	UTSW	5	118,749,748 (GRCm38)	missense	probably damaging	1.00
R1665:Med13l	UTSW	5	118,749,748 (GRCm38)	missense	probably damaging	1.00
R1720:Med13l	UTSW	5	118,741,995 (GRCm38)	missense	probably damaging	1.00
R1929:Med13l	UTSW	5	118,728,833 (GRCm38)	missense	probably benign	0.01
R1967:Med13l	UTSW	5	118,761,322 (GRCm38)	missense	probably damaging	0.99
R2301:Med13l	UTSW	5	118,593,447 (GRCm38)	missense	probably damaging	1.00
R3691:Med13l	UTSW	5	118,721,497 (GRCm38)	missense	probably benign	0.16
R3895:Med13l	UTSW	5	118,761,323 (GRCm38)	missense	probably null	0.99
R4043:Med13l	UTSW	5	118,593,463 (GRCm38)	missense	probably damaging	1.00
R4593:Med13l	UTSW	5	118,742,560 (GRCm38)	missense	probably damaging	1.00
R4902:Med13l	UTSW	5	118,745,130 (GRCm38)	missense	probably damaging	1.00
R4995:Med13l	UTSW	5	118,730,949 (GRCm38)	missense	possibly damaging	0.90
R5010:Med13l	UTSW	5	118,593,550 (GRCm38)	missense	possibly damaging	0.95
R5057:Med13l	UTSW	5	118,718,493 (GRCm38)	missense	probably damaging	1.00
R5369:Med13l	UTSW	5	118,724,010 (GRCm38)	missense	probably benign	0.02
R5446:Med13l	UTSW	5	118,742,397 (GRCm38)	missense	possibly damaging	0.81
R5564:Med13l	UTSW	5	118,742,040 (GRCm38)	missense	probably damaging	1.00
R5566:Med13l	UTSW	5	118,728,665 (GRCm38)	missense	possibly damaging	0.95
R5580:Med13l	UTSW	5	118,751,630 (GRCm38)	missense	possibly damaging	0.95
R5634:Med13l	UTSW	5	118,560,850 (GRCm38)	missense	possibly damaging	0.88
R5748:Med13l	UTSW	5	118,593,445 (GRCm38)	missense	probably damaging	1.00
R5764:Med13l	UTSW	5	118,728,642 (GRCm38)	missense	probably damaging	0.99
R5765:Med13l	UTSW	5	118,728,642 (GRCm38)	missense	probably damaging	0.99
R6083:Med13l	UTSW	5	118,721,486 (GRCm38)	missense	possibly damaging	0.80
R6504:Med13l	UTSW	5	118,754,321 (GRCm38)	missense	probably benign	0.34
R6546:Med13l	UTSW	5	118,721,474 (GRCm38)	missense	probably damaging	1.00
R6797:Med13l	UTSW	5	118,759,264 (GRCm38)	critical splice donor site	probably null
R6911:Med13l	UTSW	5	118,755,658 (GRCm38)	missense	possibly damaging	0.95
R6942:Med13l	UTSW	5	118,745,006 (GRCm38)	splice site	probably null
R7018:Med13l	UTSW	5	118,751,986 (GRCm38)	missense	probably damaging	0.99
R7096:Med13l	UTSW	5	118,721,926 (GRCm38)	missense	possibly damaging	0.90
R7113:Med13l	UTSW	5	118,726,265 (GRCm38)	missense	probably benign	0.09
R7136:Med13l	UTSW	5	118,721,522 (GRCm38)	missense	possibly damaging	0.90
R7140:Med13l	UTSW	5	118,741,972 (GRCm38)	missense	probably benign	0.27
R7345:Med13l	UTSW	5	118,742,760 (GRCm38)	missense	probably damaging	1.00
R7409:Med13l	UTSW	5	118,754,321 (GRCm38)	missense	probably benign	0.34
R7410:Med13l	UTSW	5	118,560,832 (GRCm38)	missense	possibly damaging	0.94
R7432:Med13l	UTSW	5	118,751,938 (GRCm38)	missense	probably damaging	0.99
R7486:Med13l	UTSW	5	118,728,474 (GRCm38)	missense	probably benign	0.17
R7509:Med13l	UTSW	5	118,748,930 (GRCm38)	missense	probably damaging	0.97
R7722:Med13l	UTSW	5	118,747,407 (GRCm38)	missense	probably benign	0.32
R7802:Med13l	UTSW	5	118,728,590 (GRCm38)	missense	probably benign	0.03
R8081:Med13l	UTSW	5	118,728,268 (GRCm38)	missense	probably damaging	1.00
R8260:Med13l	UTSW	5	118,748,729 (GRCm38)	missense	possibly damaging	0.95
R8266:Med13l	UTSW	5	118,742,109 (GRCm38)	missense	probably damaging	1.00
R8347:Med13l	UTSW	5	118,742,597 (GRCm38)	missense	probably benign
R8365:Med13l	UTSW	5	118,728,644 (GRCm38)	missense	possibly damaging	0.81
R8508:Med13l	UTSW	5	118,754,321 (GRCm38)	missense	probably benign	0.34
R8920:Med13l	UTSW	5	118,747,478 (GRCm38)	nonsense	probably null
R8970:Med13l	UTSW	5	118,745,099 (GRCm38)	missense	probably damaging	1.00
R8994:Med13l	UTSW	5	118,728,161 (GRCm38)	missense	possibly damaging	0.78
R9045:Med13l	UTSW	5	118,742,751 (GRCm38)	missense	probably benign
R9401:Med13l	UTSW	5	118,745,024 (GRCm38)	missense	probably benign	0.14
R9445:Med13l	UTSW	5	118,724,149 (GRCm38)	missense	probably benign	0.00
R9446:Med13l	UTSW	5	118,738,502 (GRCm38)	missense	probably benign	0.11
R9714:Med13l	UTSW	5	118,728,373 (GRCm38)	missense	probably benign	0.44
R9777:Med13l	UTSW	5	118,748,959 (GRCm38)	missense	probably benign
R9781:Med13l	UTSW	5	118,729,967 (GRCm38)	missense	possibly damaging	0.60
R9797:Med13l	UTSW	5	118,742,079 (GRCm38)	missense	probably damaging	1.00
X0065:Med13l	UTSW	5	118,729,883 (GRCm38)	missense	probably damaging	1.00
Z1088:Med13l	UTSW	5	118,749,641 (GRCm38)	missense	probably damaging	0.98

Posted On

2015-12-18