Mutagenetix > Incidental Mutation

Incidental Mutation 'R5652:Med15'

441526

Institutional Source

Beutler Lab

Gene Symbol

Med15

Ensembl Gene

ENSMUSG00000012114

Gene Name

mediator complex subunit 15

Synonyms

Pcqap, A230074L19Rik

MMRRC Submission

043298-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R5652 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17651208-17732891 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17655191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 504 (I504N)

Ref Sequence

ENSEMBL: ENSMUSP00000079737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012259] [ENSMUST00000056962] [ENSMUST00000080936] [ENSMUST00000182117] [ENSMUST00000182344] [ENSMUST00000231674] [ENSMUST00000232236] [ENSMUST00000232645]

AlphaFold

Q924H2

Predicted Effect

probably damaging
Transcript: ENSMUST00000012259
AA Change: I544N

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

SMART Domains

Protein: ENSMUSP00000012259
Gene: ENSMUSG00000012114
AA Change: I544N

Domain	Start	End	E-Value	Type
Pfam:Med15	17	789	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056962

SMART Domains

Protein: ENSMUSP00000049541
Gene: ENSMUSG00000041617

Domain	Start	End	E-Value	Type
low complexity region	12	34	N/A	INTRINSIC
Pfam:CCDC92	50	105	4.1e-24	PFAM
low complexity region	154	164	N/A	INTRINSIC
Pfam:CCDC74_C	209	326	1.4e-49	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000080936
AA Change: I504N

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

SMART Domains

Protein: ENSMUSP00000079737
Gene: ENSMUSG00000012114
AA Change: I504N

Domain	Start	End	E-Value	Type
Pfam:Med15	17	749	1.2e-276	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182117

SMART Domains

Protein: ENSMUSP00000138657
Gene: ENSMUSG00000041617

Domain	Start	End	E-Value	Type
low complexity region	1	21	N/A	INTRINSIC
Pfam:CCDC92	36	97	2e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182344

SMART Domains

Protein: ENSMUSP00000138131
Gene: ENSMUSG00000041617

Domain	Start	End	E-Value	Type
Pfam:CCDC92	18	79	1.4e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182671

Predicted Effect

probably benign
Transcript: ENSMUST00000182976

Predicted Effect

probably benign
Transcript: ENSMUST00000183279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231231

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231480

Predicted Effect

probably benign
Transcript: ENSMUST00000231674

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232012

Predicted Effect

probably damaging
Transcript: ENSMUST00000232236
AA Change: I544N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232645
AA Change: I394N

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	A	G	9: 22,424,490	T135A	probably benign	Het
Abcc4	T	C	14: 118,618,927	I334V	probably benign	Het
Adamts5	C	T	16: 85,899,268	A334T	probably damaging	Het
Adcy4	G	C	14: 55,773,443	F672L	probably benign	Het
Adgrl1	A	G	8: 83,929,815	Y254C	probably damaging	Het
Adnp2	A	G	18: 80,130,850	S115P	probably damaging	Het
Aox1	A	T	1: 58,095,197	S1110C	probably damaging	Het
Arhgap44	G	T	11: 65,024,238	N401K	probably damaging	Het
Atp23	A	T	10: 126,899,625	N63K	possibly damaging	Het
Atp8b1	G	C	18: 64,531,382	I1238M	probably benign	Het
Ccdc38	A	T	10: 93,555,586		probably null	Het
Celsr2	T	C	3: 108,396,735	D2364G	probably null	Het
Celsr3	G	A	9: 108,838,472	D2116N	probably benign	Het
Cenpf	A	G	1: 189,657,082	S1518P	probably damaging	Het
Clcn3	C	A	8: 60,919,353	V758L	possibly damaging	Het
Ctsf	T	C	19: 4,858,477	L288P	probably damaging	Het
Cwh43	A	G	5: 73,418,141	T334A	probably damaging	Het
Cyp3a57	A	T	5: 145,349,325		probably null	Het
Ddr1	C	T	17: 35,686,508	A531T	probably benign	Het
Dennd1a	A	G	2: 37,801,126	I260T	probably benign	Het
Dgkh	T	C	14: 78,627,761	H47R	probably damaging	Het
Dync1h1	G	A	12: 110,665,988	V4514I	possibly damaging	Het
Dync2h1	A	T	9: 7,116,638	M66K	probably benign	Het
Fam186a	T	G	15: 99,945,372	Y997S	possibly damaging	Het
Fam8a1	T	A	13: 46,674,338	L334H	probably damaging	Het
Fat4	C	T	3: 39,002,968	T4271I	probably damaging	Het
Fdxacb1	T	A	9: 50,768,405	L41Q	probably damaging	Het
Fgfr2	C	T	7: 130,261,863	V18M	probably damaging	Het
Gpa33	A	C	1: 166,165,145		probably null	Het
Gpr1	A	G	1: 63,183,467	V203A	probably benign	Het
Gpr107	A	G	2: 31,185,589	I371V	probably benign	Het
Hectd2	T	C	19: 36,604,320	V420A	probably damaging	Het
Hist1h1t	A	G	13: 23,696,236	K124R	probably benign	Het
Iglc3	A	G	16: 19,065,670		probably benign	Het
Igtp	A	G	11: 58,206,629	T209A	probably benign	Het
Itgb7	T	A	15: 102,216,203	N793I	possibly damaging	Het
Kansl1	G	A	11: 104,338,166	R870C	probably damaging	Het
Kcnh6	C	T	11: 106,008,985	R27C	probably damaging	Het
Kif2b	T	A	11: 91,575,830	E542D	possibly damaging	Het
Klhl24	C	A	16: 20,120,247	Y517*	probably null	Het
Klhl25	A	G	7: 75,866,147	D267G	probably benign	Het
Krr1	C	A	10: 111,977,383	F195L	possibly damaging	Het
Lsr	C	T	7: 30,959,031	G95D	probably damaging	Het
Mug1	A	G	6: 121,840,181	R70G	probably benign	Het
Mypn	T	A	10: 63,135,801	Q820L	probably damaging	Het
Nlrp4f	A	T	13: 65,182,989	H863Q	probably benign	Het
Nudt9	G	A	5: 104,059,780	V213M	probably benign	Het
Olfr177	A	G	16: 58,872,484	L222P	probably damaging	Het
Olfr828	A	G	9: 18,815,626	S223P	probably damaging	Het
Olfr891	T	C	9: 38,180,815	T3A	probably benign	Het
Olfr987	T	A	2: 85,331,373	N175I	probably damaging	Het
Orc2	A	G	1: 58,466,072	F475L	probably damaging	Het
Oxa1l	T	A	14: 54,366,832	L183*	probably null	Het
Pcdh20	T	C	14: 88,467,324	T847A	probably damaging	Het
Pcdha6	G	A	18: 36,968,836		probably null	Het
Pip5k1a	T	C	3: 95,067,439	N376S	probably benign	Het
Pkd1l1	T	C	11: 8,909,889	E573G	probably benign	Het
Pkp1	T	A	1: 135,882,597		probably null	Het
Pum1	T	C	4: 130,764,127	I643T	possibly damaging	Het
Rapgef3	A	G	15: 97,758,437	S328P	probably benign	Het
Raver1	A	G	9: 21,090,312	V75A	probably damaging	Het
Rbm28	T	C	6: 29,135,409	E511G	probably damaging	Het
Satb1	T	A	17: 51,742,795	T544S	probably damaging	Het
Sdcbp2	T	C	2: 151,589,215	V248A	probably benign	Het
Sema7a	A	G	9: 57,960,659	D506G	probably damaging	Het
Sept8	A	G	11: 53,537,217	E286G	probably damaging	Het
Sh3pxd2b	A	G	11: 32,422,812	I660V	probably damaging	Het
Stk38l	G	T	6: 146,773,328	D364Y	possibly damaging	Het
Sycp2	T	C	2: 178,358,705		probably null	Het
Tbc1d31	T	A	15: 57,951,666	S580T	probably damaging	Het
Tcerg1l	G	A	7: 138,280,046	R305C	probably damaging	Het
Tek	T	A	4: 94,855,324	Y859N	probably damaging	Het
Tjp1	A	T	7: 65,312,443		probably null	Het
Tmem132d	A	T	5: 127,784,795	I754N	possibly damaging	Het
Togaram1	G	A	12: 65,016,650	V1580I	probably benign	Het
Troap	A	G	15: 99,082,264	T442A	probably benign	Het
Ttn	A	T	2: 76,881,753		probably benign	Het
Twnk	T	A	19: 45,007,293	V55E	possibly damaging	Het
Uggt1	A	T	1: 36,216,153	Y225*	probably null	Het
Vmn2r109	A	G	17: 20,540,519	*859Q	probably null	Het
Vmn2r17	A	T	5: 109,429,564	I494L	probably benign	Het
Vmn2r88	T	C	14: 51,418,572	V746A	probably damaging	Het
Yae1d1	A	G	13: 17,991,706	L57P	probably damaging	Het
Zfp26	G	A	9: 20,437,841	R476*	probably null	Het
Zmynd8	T	A	2: 165,807,698	Q816L	probably damaging	Het
Zswim8	A	T	14: 20,713,427	H414L	possibly damaging	Het

Other mutations in Med15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Med15	APN	16	17680726	missense	probably damaging	0.96
IGL00780:Med15	APN	16	17653487	missense	probably damaging	1.00
IGL02365:Med15	APN	16	17671606	intron	probably benign
R0324:Med15	UTSW	16	17697612	missense	probably damaging	0.98
R1225:Med15	UTSW	16	17722788	missense	probably damaging	1.00
R1695:Med15	UTSW	16	17722780	missense	probably damaging	0.96
R1745:Med15	UTSW	16	17655706	unclassified	probably benign
R1801:Med15	UTSW	16	17680735	missense	possibly damaging	0.66
R1838:Med15	UTSW	16	17653562	missense	probably benign	0.11
R1901:Med15	UTSW	16	17673154	unclassified	probably benign
R2153:Med15	UTSW	16	17685451	critical splice donor site	probably null
R2974:Med15	UTSW	16	17652711	missense	probably damaging	1.00
R3808:Med15	UTSW	16	17655734	unclassified	probably benign
R3809:Med15	UTSW	16	17655734	unclassified	probably benign
R4240:Med15	UTSW	16	17655494	missense	probably damaging	1.00
R4483:Med15	UTSW	16	17671564	intron	probably benign
R4484:Med15	UTSW	16	17671564	intron	probably benign
R4577:Med15	UTSW	16	17674515	nonsense	probably null
R6244:Med15	UTSW	16	17652745	nonsense	probably null
R6701:Med15	UTSW	16	17671583	intron	probably benign
R6793:Med15	UTSW	16	17652703	unclassified	probably benign
R7036:Med15	UTSW	16	17698155	start codon destroyed	probably null
R7038:Med15	UTSW	16	17652727	missense	possibly damaging	0.90
R7211:Med15	UTSW	16	17698113	missense	unknown
R7317:Med15	UTSW	16	17671643	missense	unknown
R7390:Med15	UTSW	16	17722762	missense	unknown
R7471:Med15	UTSW	16	17722865	missense	probably benign	0.03
R7726:Med15	UTSW	16	17655174	missense	possibly damaging	0.87
R8872:Med15	UTSW	16	17652741	missense	probably damaging	1.00
R9043:Med15	UTSW	16	17652718	missense	probably benign	0.07
R9084:Med15	UTSW	16	17653208	missense	probably damaging	0.99
R9089:Med15	UTSW	16	17655557	missense	unknown
R9363:Med15	UTSW	16	17671550	missense	unknown
Z1177:Med15	UTSW	16	17653232	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CTATGTGAGCTGTGGCACAAC -3'
(R):5'- TCATGGGACCCTCACATCTC -3'

Sequencing Primer
(F):5'- GGCCAGTACTCACCTCTTCGAG -3'
(R):5'- CCTGTGACACCTGCTCCACAG -3'

Posted On

2016-11-08