Mutagenetix > Incidental Mutation

Incidental Mutation 'R7726:Med15'

595521

Institutional Source

Beutler Lab

Gene Symbol

Med15

Ensembl Gene

ENSMUSG00000012114

Gene Name

mediator complex subunit 15

Synonyms

Pcqap, A230074L19Rik

MMRRC Submission

045782-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R7726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17651208-17732891 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 17655174 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 550 (M550L)

Ref Sequence

ENSEMBL: ENSMUSP00000012259 (fasta)

Gene Model

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

AlphaFold

Q924H2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000012259
AA Change: M550L

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000012259
Gene: ENSMUSG00000012114
AA Change: M550L

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

possibly damaging
Transcript: ENSMUST00000080936
AA Change: M510L

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000079737
Gene: ENSMUSG00000012114
AA Change: M510L

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

probably benign
Transcript: ENSMUST00000231674

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232236
AA Change: M550L

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000232645
AA Change: M400L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	C	A	1: 26,684,498 (GRCm38)	A534S	probably benign	Het
A230050P20Rik	T	C	9: 20,873,165 (GRCm38)	Y182H	possibly damaging	Het
Adam34	T	G	8: 43,651,171 (GRCm38)	N479T	probably damaging	Het
Add3	C	G	19: 53,239,461 (GRCm38)	L526V	probably damaging	Het
Alas1	T	C	9: 106,246,951 (GRCm38)	T3A	probably benign	Het
Arap3	C	T	18: 37,989,467 (GRCm38)	D579N	probably damaging	Het
Armc6	C	A	8: 70,222,598 (GRCm38)	D326Y	probably damaging	Het
Atp6v1e2	G	A	17: 86,944,385 (GRCm38)	T195I	probably damaging	Het
Atrnl1	A	G	19: 57,702,072 (GRCm38)	E904G	probably damaging	Het
Bhlhe40	T	A	6: 108,662,598 (GRCm38)	D112E	probably benign	Het
Brf1	T	G	12: 112,964,245 (GRCm38)	K438T	probably benign	Het
Cabs1	A	T	5: 87,980,286 (GRCm38)	E265D	probably damaging	Het
Ccdc162	T	A	10: 41,553,075 (GRCm38)	M1937L	probably benign	Het
Cd55b	A	T	1: 130,411,493 (GRCm38)	S299R	possibly damaging	Het
Chordc1	A	G	9: 18,302,214 (GRCm38)	*120W	probably null	Het
Col17a1	C	A	19: 47,655,190 (GRCm38)		probably null	Het
Cpne8	A	T	15: 90,501,418 (GRCm38)	I469K	possibly damaging	Het
Crtac1	G	T	19: 42,302,251 (GRCm38)	S337*	probably null	Het
Cx3cl1	T	C	8: 94,780,239 (GRCm38)	S291P	probably damaging	Het
Dhx36	G	T	3: 62,488,968 (GRCm38)	Q423K	probably benign	Het
Eif3h	G	T	15: 51,786,823 (GRCm38)	Q322K	possibly damaging	Het
Ero1lb	A	G	13: 12,605,833 (GRCm38)	*494W	probably null	Het
Exph5	G	A	9: 53,373,175 (GRCm38)	V519I	possibly damaging	Het
Fam184a	C	A	10: 53,633,706 (GRCm38)	E126*	probably null	Het
Fam208a	C	A	14: 27,447,497 (GRCm38)	N338K	probably damaging	Het
Fam222b	A	G	11: 78,153,751 (GRCm38)	D46G	probably damaging	Het
Fbxl6	C	A	15: 76,535,886 (GRCm38)	R509L	probably damaging	Het
Fgf14	T	C	14: 124,136,244 (GRCm38)	Y86C	probably damaging	Het
Fras1	A	T	5: 96,712,451 (GRCm38)	I2119F	probably benign	Het
Gm14085	A	G	2: 122,486,733 (GRCm38)	E25G	probably damaging	Het
Gpr37	G	A	6: 25,669,117 (GRCm38)	T576I	possibly damaging	Het
Hnrnpul2	G	T	19: 8,831,280 (GRCm38)	R702L	possibly damaging	Het
Iqgap1	T	C	7: 80,757,456 (GRCm38)	N342S	probably benign	Het
Kcnh6	T	C	11: 106,017,575 (GRCm38)	V339A	probably benign	Het
Klk1b9	A	T	7: 43,978,416 (GRCm38)	N46I	possibly damaging	Het
Kndc1	C	A	7: 139,939,838 (GRCm38)	S1703R	possibly damaging	Het
Lyn	C	A	4: 3,756,428 (GRCm38)	Y306*	probably null	Het
Manba	C	T	3: 135,518,009 (GRCm38)	T219M	probably benign	Het
Mastl	T	C	2: 23,140,795 (GRCm38)		probably null	Het
Men1	G	A	19: 6,337,282 (GRCm38)		probably null	Het
Mettl11b	A	G	1: 163,703,184 (GRCm38)	C229R	probably benign	Het
Msh4	C	T	3: 153,866,320 (GRCm38)		probably null	Het
Myh6	G	T	14: 54,965,365 (GRCm38)	D32E	probably damaging	Het
Ntn4	A	G	10: 93,733,682 (GRCm38)	D419G	possibly damaging	Het
Nup155	C	T	15: 8,122,139 (GRCm38)	P393S	probably damaging	Het
Olfr1389	T	A	11: 49,430,900 (GRCm38)	C141*	probably null	Het
Olfr1415	A	T	1: 92,491,307 (GRCm38)	F149L	probably benign	Het
Palm2	C	T	4: 57,709,876 (GRCm38)	P274S	probably damaging	Het
Papss2	A	T	19: 32,634,003 (GRCm38)		probably null	Het
Pcdhgc3	T	C	18: 37,806,879 (GRCm38)	V111A	possibly damaging	Het
Pcnx2	C	T	8: 125,850,330 (GRCm38)	V988I	probably benign	Het
Pom121	C	T	5: 135,378,148 (GRCm38)	G1178S	probably damaging	Het
Prss33	A	G	17: 23,834,229 (GRCm38)	C213R	probably damaging	Het
Scap	G	A	9: 110,378,367 (GRCm38)		probably null	Het
Sirpb1c	T	A	3: 15,848,386 (GRCm38)	I10F	possibly damaging	Het
Spink5	T	C	18: 43,963,352 (GRCm38)	L16P	probably damaging	Het
Stk4	T	G	2: 164,110,226 (GRCm38)	M1R	probably null	Het
Stub1	A	T	17: 25,831,132 (GRCm38)	Y253*	probably null	Het
Tbce	A	G	13: 14,029,290 (GRCm38)	V29A	probably damaging	Het
Tchhl1	A	G	3: 93,471,758 (GRCm38)	R590G	probably benign	Het
Tmem173	C	T	18: 35,735,265 (GRCm38)	A261T	probably damaging	Het
Ubr4	C	T	4: 139,458,920 (GRCm38)	P613L	unknown	Het
Vmn2r3	G	T	3: 64,275,518 (GRCm38)	C253*	probably null	Het
Wfdc8	C	A	2: 164,599,986 (GRCm38)	E215D	possibly damaging	Het
Zfp874b	T	C	13: 67,473,856 (GRCm38)	D441G	probably benign	Het
Zscan4d	G	T	7: 11,165,242 (GRCm38)	P36Q	possibly damaging	Het

Other mutations in Med15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Med15	APN	16	17,680,726 (GRCm38)	missense	probably damaging	0.96
IGL00780:Med15	APN	16	17,653,487 (GRCm38)	missense	probably damaging	1.00
IGL02365:Med15	APN	16	17,671,606 (GRCm38)	intron	probably benign
R0324:Med15	UTSW	16	17,697,612 (GRCm38)	missense	probably damaging	0.98
R1225:Med15	UTSW	16	17,722,788 (GRCm38)	missense	probably damaging	1.00
R1695:Med15	UTSW	16	17,722,780 (GRCm38)	missense	probably damaging	0.96
R1745:Med15	UTSW	16	17,655,706 (GRCm38)	unclassified	probably benign
R1801:Med15	UTSW	16	17,680,735 (GRCm38)	missense	possibly damaging	0.66
R1838:Med15	UTSW	16	17,653,562 (GRCm38)	missense	probably benign	0.11
R1901:Med15	UTSW	16	17,673,154 (GRCm38)	unclassified	probably benign
R2153:Med15	UTSW	16	17,685,451 (GRCm38)	critical splice donor site	probably null
R2974:Med15	UTSW	16	17,652,711 (GRCm38)	missense	probably damaging	1.00
R3808:Med15	UTSW	16	17,655,734 (GRCm38)	unclassified	probably benign
R3809:Med15	UTSW	16	17,655,734 (GRCm38)	unclassified	probably benign
R4240:Med15	UTSW	16	17,655,494 (GRCm38)	missense	probably damaging	1.00
R4483:Med15	UTSW	16	17,671,564 (GRCm38)	intron	probably benign
R4484:Med15	UTSW	16	17,671,564 (GRCm38)	intron	probably benign
R4577:Med15	UTSW	16	17,674,515 (GRCm38)	nonsense	probably null
R5652:Med15	UTSW	16	17,655,191 (GRCm38)	missense	probably damaging	1.00
R6244:Med15	UTSW	16	17,652,745 (GRCm38)	nonsense	probably null
R6701:Med15	UTSW	16	17,671,583 (GRCm38)	intron	probably benign
R6793:Med15	UTSW	16	17,652,703 (GRCm38)	unclassified	probably benign
R7036:Med15	UTSW	16	17,698,155 (GRCm38)	start codon destroyed	probably null
R7038:Med15	UTSW	16	17,652,727 (GRCm38)	missense	possibly damaging	0.90
R7211:Med15	UTSW	16	17,698,113 (GRCm38)	missense	unknown
R7317:Med15	UTSW	16	17,671,643 (GRCm38)	missense	unknown
R7390:Med15	UTSW	16	17,722,762 (GRCm38)	missense	unknown
R7471:Med15	UTSW	16	17,722,865 (GRCm38)	missense	probably benign	0.03
R8872:Med15	UTSW	16	17,652,741 (GRCm38)	missense	probably damaging	1.00
R9043:Med15	UTSW	16	17,652,718 (GRCm38)	missense	probably benign	0.07
R9084:Med15	UTSW	16	17,653,208 (GRCm38)	missense	probably damaging	0.99
R9089:Med15	UTSW	16	17,655,557 (GRCm38)	missense	unknown
R9363:Med15	UTSW	16	17,671,550 (GRCm38)	missense	unknown
Z1177:Med15	UTSW	16	17,653,232 (GRCm38)	missense	possibly damaging	0.81

Predicted Primers

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

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

Posted On

2019-11-12