Mutagenetix > Incidental Mutation

Incidental Mutation 'R5724:Med16'

499933

Institutional Source

Beutler Lab

Gene Symbol

Med16

Ensembl Gene

ENSMUSG00000013833

Gene Name

mediator complex subunit 16

Synonyms

Thrap5, 95kDa, Trap95

MMRRC Submission

043342-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5724 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79730543-79744757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79731243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 825 (C825R)

Ref Sequence

ENSEMBL: ENSMUSP00000129375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061653] [ENSMUST00000105378] [ENSMUST00000165684] [ENSMUST00000217837]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000061653

SMART Domains

Protein: ENSMUSP00000056836
Gene: ENSMUSG00000061780

Domain	Start	End	E-Value	Type
Tryp_SPc	25	249	8.25e-76	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105378
AA Change: C824R

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

SMART Domains

Protein: ENSMUSP00000101017
Gene: ENSMUSG00000013833
AA Change: C824R

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
WD40	94	133	1.05e-7	SMART
Blast:WD40	143	169	4e-8	BLAST
low complexity region	206	217	N/A	INTRINSIC
WD40	226	267	1.53e2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000165684
AA Change: C825R

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

SMART Domains

Protein: ENSMUSP00000129375
Gene: ENSMUSG00000013833
AA Change: C825R

Domain	Start	End	E-Value	Type
low complexity region	13	25	N/A	INTRINSIC
WD40	95	134	1.05e-7	SMART
Blast:WD40	144	170	4e-8	BLAST
low complexity region	207	218	N/A	INTRINSIC
WD40	227	268	1.53e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170375

Predicted Effect

probably benign
Transcript: ENSMUST00000217837

Meta Mutation Damage Score

0.9258

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.1%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830408C21Rik	A	T	13: 107,168,905 (GRCm39)		noncoding transcript	Het
Adam5	T	A	8: 25,294,511 (GRCm39)	K363*	probably null	Het
Adamts12	T	C	15: 11,286,836 (GRCm39)	Y814H	probably benign	Het
Adar	G	T	3: 89,642,476 (GRCm39)	G119V	probably benign	Het
Adprs	G	T	4: 126,211,869 (GRCm39)	Q148K	probably damaging	Het
Atr	G	T	9: 95,748,641 (GRCm39)	L395F	probably damaging	Het
Bahcc1	A	G	11: 120,176,192 (GRCm39)	I1946V	possibly damaging	Het
Bend4	T	A	5: 67,575,284 (GRCm39)	D199V	probably damaging	Het
Bpifb1	C	A	2: 154,046,712 (GRCm39)	H77Q	probably benign	Het
Clca3a1	T	C	3: 144,714,833 (GRCm39)	T595A	probably benign	Het
Crebbp	A	T	16: 3,905,499 (GRCm39)		probably benign	Het
Cxcl16	T	C	11: 70,349,990 (GRCm39)	D12G	probably damaging	Het
Dnah10	T	C	5: 124,819,090 (GRCm39)	W459R	probably benign	Het
Dock8	T	C	19: 25,099,785 (GRCm39)	L636P	probably damaging	Het
Eif2ak3	A	G	6: 70,853,824 (GRCm39)	T197A	probably benign	Het
Fbxo40	T	A	16: 36,790,692 (GRCm39)	R139S	probably benign	Het
Fer	C	A	17: 64,231,152 (GRCm39)	T301K	probably damaging	Het
Fgf21	A	T	7: 45,264,729 (GRCm39)	M1K	probably null	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm38706	A	T	6: 130,459,963 (GRCm39)		noncoding transcript	Het
H2-Q6	A	C	17: 35,644,628 (GRCm39)	Y139S	probably damaging	Het
Ift70a2	T	C	2: 75,808,074 (GRCm39)	D146G	probably benign	Het
Igkv4-53	A	T	6: 69,625,991 (GRCm39)	Y59N	probably damaging	Het
Jrkl	T	C	9: 13,244,891 (GRCm39)	M257V	possibly damaging	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Klhl26	T	A	8: 70,904,404 (GRCm39)	Y468F	probably damaging	Het
Lamb2	T	A	9: 108,357,950 (GRCm39)		probably null	Het
Lcp1	A	G	14: 75,464,422 (GRCm39)	T548A	probably benign	Het
Lct	T	A	1: 128,228,073 (GRCm39)	Q1140L	probably benign	Het
Lrp2	T	G	2: 69,281,726 (GRCm39)	N3882H	probably damaging	Het
Magi1	A	G	6: 93,657,852 (GRCm39)	I1126T	probably benign	Het
Magi1	A	G	6: 93,722,682 (GRCm39)	S399P	probably damaging	Het
Mtx3	C	T	13: 92,984,095 (GRCm39)	P124L	probably damaging	Het
Nabp2	C	T	10: 128,245,555 (GRCm39)		probably benign	Het
Or5b113	T	A	19: 13,342,515 (GRCm39)	H174Q	possibly damaging	Het
Pak4	A	T	7: 28,264,005 (GRCm39)	S244T	possibly damaging	Het
Pccb	C	T	9: 100,869,900 (GRCm39)	V307I	probably benign	Het
Plekhh2	A	G	17: 84,874,233 (GRCm39)	D506G	probably benign	Het
Plk4	T	C	3: 40,755,481 (GRCm39)	V26A	probably damaging	Het
Ppp2r3c	A	T	12: 55,344,617 (GRCm39)	M117K	probably benign	Het
Pramel21	A	G	4: 143,344,026 (GRCm39)	D442G	probably benign	Het
Pspc1	C	T	14: 57,015,529 (GRCm39)	E30K	probably benign	Het
Reps1	A	G	10: 17,990,231 (GRCm39)	S448G	possibly damaging	Het
Rnf34	C	T	5: 123,004,952 (GRCm39)	Q241*	probably null	Het
Sgta	A	T	10: 80,883,522 (GRCm39)		probably null	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Siglech	A	G	7: 55,418,293 (GRCm39)	N87S	probably damaging	Het
Sptbn1	A	G	11: 30,094,113 (GRCm39)	I392T	possibly damaging	Het
St18	T	A	1: 6,841,174 (GRCm39)	M21K	probably benign	Het
Sugp1	C	T	8: 70,522,799 (GRCm39)	R500C	probably damaging	Het
Tasp1	T	C	2: 139,899,339 (GRCm39)	K5E	probably damaging	Het
Tbx3	G	A	5: 119,813,668 (GRCm39)	V235I	possibly damaging	Het
Toporsl	A	T	4: 52,611,346 (GRCm39)	N413I	probably damaging	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Zfp60	A	G	7: 27,447,758 (GRCm39)	Y142C	probably benign	Het

Other mutations in Med16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00977:Med16	APN	10	79,743,459 (GRCm39)	start codon destroyed	probably null	0.62
IGL02328:Med16	APN	10	79,743,376 (GRCm39)	missense	probably damaging	1.00
IGL03123:Med16	APN	10	79,732,667 (GRCm39)	missense	probably damaging	1.00
R0139:Med16	UTSW	10	79,732,635 (GRCm39)	missense	probably benign	0.17
R0254:Med16	UTSW	10	79,736,034 (GRCm39)	missense	possibly damaging	0.94
R1458:Med16	UTSW	10	79,743,312 (GRCm39)	unclassified	probably benign
R1483:Med16	UTSW	10	79,738,934 (GRCm39)	missense	possibly damaging	0.88
R1524:Med16	UTSW	10	79,734,150 (GRCm39)	missense	probably damaging	1.00
R1612:Med16	UTSW	10	79,735,079 (GRCm39)	missense	probably damaging	1.00
R1700:Med16	UTSW	10	79,735,169 (GRCm39)	missense	probably benign	0.10
R1900:Med16	UTSW	10	79,734,765 (GRCm39)	missense	probably damaging	1.00
R1960:Med16	UTSW	10	79,742,929 (GRCm39)	missense	possibly damaging	0.94
R2120:Med16	UTSW	10	79,738,916 (GRCm39)	missense	possibly damaging	0.63
R2895:Med16	UTSW	10	79,739,005 (GRCm39)	splice site	probably null
R4419:Med16	UTSW	10	79,734,216 (GRCm39)	missense	probably benign
R4794:Med16	UTSW	10	79,735,951 (GRCm39)	missense	probably damaging	1.00
R4970:Med16	UTSW	10	79,742,871 (GRCm39)	critical splice donor site	probably null
R4975:Med16	UTSW	10	79,738,839 (GRCm39)	missense	possibly damaging	0.93
R5926:Med16	UTSW	10	79,738,362 (GRCm39)	missense	probably damaging	0.99
R6185:Med16	UTSW	10	79,732,197 (GRCm39)	missense	probably damaging	1.00
R7097:Med16	UTSW	10	79,739,177 (GRCm39)	missense	probably damaging	1.00
R7346:Med16	UTSW	10	79,744,650 (GRCm39)	critical splice donor site	probably null
R7350:Med16	UTSW	10	79,739,031 (GRCm39)	missense	probably damaging	1.00
R7808:Med16	UTSW	10	79,734,252 (GRCm39)	missense	probably damaging	1.00
R7877:Med16	UTSW	10	79,734,206 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTCAATGTTCAGAGACTGGTTG -3'
(R):5'- TGTTATGGTTGAGCCCCAGG -3'

Sequencing Primer
(F):5'- TCAGAGACTGGTTGTACATACGC -3'
(R):5'- GGCACTGTGGACATAGGTC -3'

Posted On

2017-11-28