Mutagenetix > Incidental Mutations

Incidental Mutation 'R7265:Pramef6'

564858

Institutional Source

Beutler Lab

Gene Symbol

Pramef6

Ensembl Gene

ENSMUSG00000078512

Gene Name

PRAME family member 6

Synonyms

Gm13099

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R7265 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143894237-143900380 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 143895421 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 455 (V455L)

Ref Sequence

ENSEMBL: ENSMUSP00000101393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081645] [ENSMUST00000081645] [ENSMUST00000081645] [ENSMUST00000105767]

Predicted Effect

probably null
Transcript: ENSMUST00000081645

SMART Domains

Protein: ENSMUSP00000080350
Gene: ENSMUSG00000078512

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	204	412	6e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000081645

SMART Domains

Protein: ENSMUSP00000080350
Gene: ENSMUSG00000078512

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	204	412	6e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000081645

SMART Domains

Protein: ENSMUSP00000080350
Gene: ENSMUSG00000078512

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	204	412	6e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105767
AA Change: V455L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101393
Gene: ENSMUSG00000078512
AA Change: V455L

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	204	412	1e-11	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	G	A	17: 33,066,997	T277I	probably damaging	Het
9330182L06Rik	T	C	5: 9,446,975	V813A	possibly damaging	Het
Asb3	A	G	11: 30,998,495	E57G	probably benign	Het
B3glct	A	G	5: 149,709,320	D45G	probably benign	Het
BC034090	C	A	1: 155,225,327	C397F	probably damaging	Het
Bicd1	A	G	6: 149,513,876	K696E	probably damaging	Het
Btnl4	C	T	17: 34,475,894	C15Y	probably benign	Het
Cabin1	T	C	10: 75,721,423	N300S		Het
Chia1	T	A	3: 106,128,923	L273Q	probably damaging	Het
Coq2	A	G	5: 100,660,270	S222P	possibly damaging	Het
Dgkb	T	C	12: 38,184,932	V432A	possibly damaging	Het
Dpp3	A	G	19: 4,923,769	F92S	probably damaging	Het
Emcn	T	C	3: 137,417,078	S183P	probably damaging	Het
Emcn	T	A	3: 137,419,076	W217R	probably damaging	Het
Enpp2	A	C	15: 54,910,033		probably null	Het
Epb41	T	C	4: 131,967,834	E14G	unknown	Het
Fam160a2	G	T	7: 105,384,225	R609S	probably benign	Het
Grk4	A	G	5: 34,716,264	R225G	probably damaging	Het
Insl6	A	T	19: 29,321,545	W156R	possibly damaging	Het
Ints3	A	T	3: 90,403,983		probably null	Het
Jarid2	G	A	13: 44,902,272	G318D	probably benign	Het
Kif16b	A	T	2: 142,714,730	L596H	probably damaging	Het
Lctl	T	A	9: 64,126,921	Y281N	probably damaging	Het
Letm1	A	T	5: 33,778,648	C34S	possibly damaging	Het
Lrrc32	T	C	7: 98,499,437	S475P	probably damaging	Het
Lrrc37a	T	A	11: 103,498,941	D1886V	probably benign	Het
Macf1	A	T	4: 123,407,877	I944K	probably benign	Het
Mark4	T	C	7: 19,451,725	D28G	probably benign	Het
Mecom	C	A	3: 29,980,133	A465S	possibly damaging	Het
Muc16	A	G	9: 18,656,472	S1584P	unknown	Het
Mycbp2	A	G	14: 103,197,243		probably null	Het
Myo18b	G	A	5: 112,812,072	R1372W	probably damaging	Het
Myo1c	T	C	11: 75,669,790	I706T	possibly damaging	Het
Myo1g	T	C	11: 6,510,933	T704A	possibly damaging	Het
Nwd1	A	G	8: 72,692,928	K914E	probably benign	Het
Olfr1056	C	T	2: 86,355,744	V213I	probably benign	Het
Olfr202	T	A	16: 59,283,924	D191V	probably damaging	Het
Olfr888	A	T	9: 38,108,931	I77L	possibly damaging	Het
Otub2	C	T	12: 103,400,221	S99L	probably damaging	Het
Pak7	G	A	2: 136,101,185	S345L	probably benign	Het
Pcdhb20	A	T	18: 37,505,563	I381F	possibly damaging	Het
Pcdhga7	A	G	18: 37,716,916	T659A	probably damaging	Het
Pik3c2a	T	A	7: 116,388,086	K533N	probably damaging	Het
Pkd1l1	T	A	11: 8,929,402	Q933L		Het
Ppp4r3a	A	T	12: 101,053,511	M395K	possibly damaging	Het
Ptpn20	A	G	14: 33,614,524	T107A	probably benign	Het
Scaf8	T	A	17: 3,177,625	D376E	unknown	Het
Scn11a	C	A	9: 119,815,265	C143F	probably damaging	Het
Sctr	G	A	1: 120,022,225	R48Q	probably benign	Het
Sec13	A	T	6: 113,735,136	Y79*	probably null	Het
Sez6	T	A	11: 77,962,865	I287N	probably damaging	Het
Slc52a3	T	A	2: 152,004,416	I99K	possibly damaging	Het
Slco4c1	T	G	1: 96,871,793	H106P	probably damaging	Het
Tada2b	A	G	5: 36,476,608	Y209H	probably damaging	Het
Tas1r2	T	A	4: 139,669,652	D796E	probably benign	Het
Tdrd12	A	T	7: 35,487,722	M581K		Het
Thnsl1	A	G	2: 21,212,458	E341G	probably damaging	Het
Tlk2	C	T	11: 105,184,244	R11*	probably null	Het
Tmco6	T	C	18: 36,739,343		probably null	Het
Trmt44	A	T	5: 35,564,303	H505Q	probably benign	Het
Trpc1	T	C	9: 95,708,275	M710V	probably benign	Het
Ttc21b	T	C	2: 66,210,173	E858G	possibly damaging	Het
Twsg1	C	T	17: 65,929,787	D83N	possibly damaging	Het
Umod	G	T	7: 119,466,073	Q578K	probably benign	Het
Vmn2r6	T	C	3: 64,556,774	N213S	probably benign	Het
Vmn2r88	G	A	14: 51,418,319	V662I		Het
Zfp414	C	A	17: 33,631,279	D217E	probably benign	Het

Other mutations in Pramef6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01704:Pramef6	APN	4	143895631	missense	probably benign
IGL01917:Pramef6	APN	4	143897714	missense	probably benign	0.15
IGL02222:Pramef6	APN	4	143895846	missense	possibly damaging	0.94
IGL02315:Pramef6	APN	4	143897928	start gained	probably benign
R0488:Pramef6	UTSW	4	143895403	missense	probably benign	0.00
R0755:Pramef6	UTSW	4	143897729	missense	probably damaging	0.96
R0972:Pramef6	UTSW	4	143896963	missense	probably benign	0.02
R1444:Pramef6	UTSW	4	143896891	missense	probably benign	0.01
R1551:Pramef6	UTSW	4	143895693	missense	probably benign	0.00
R1907:Pramef6	UTSW	4	143895491	missense	possibly damaging	0.89
R2068:Pramef6	UTSW	4	143896912	missense	probably damaging	1.00
R2182:Pramef6	UTSW	4	143897190	missense	possibly damaging	0.60
R2246:Pramef6	UTSW	4	143897220	missense	probably benign	0.19
R4483:Pramef6	UTSW	4	143895840	missense	probably damaging	1.00
R5123:Pramef6	UTSW	4	143897136	missense	probably benign	0.00
R5291:Pramef6	UTSW	4	143895667	missense	probably damaging	1.00
R5643:Pramef6	UTSW	4	143895767	missense	probably damaging	0.98
R5683:Pramef6	UTSW	4	143895853	missense	probably damaging	1.00
R5836:Pramef6	UTSW	4	143896920	missense	probably benign	0.30
R5837:Pramef6	UTSW	4	143896920	missense	probably benign	0.30
R5838:Pramef6	UTSW	4	143896920	missense	probably benign	0.30
R5853:Pramef6	UTSW	4	143896920	missense	probably benign	0.30
R6340:Pramef6	UTSW	4	143897307	missense	possibly damaging	0.69
R6572:Pramef6	UTSW	4	143895373	missense	possibly damaging	0.79
R6791:Pramef6	UTSW	4	143895682	missense	probably benign	0.02
R6972:Pramef6	UTSW	4	143896902	missense	probably damaging	1.00
R7307:Pramef6	UTSW	4	143896775	nonsense	probably null
R7342:Pramef6	UTSW	4	143896950	missense	probably benign	0.26
R7361:Pramef6	UTSW	4	143895886	missense	possibly damaging	0.88
R7480:Pramef6	UTSW	4	143895495	missense	probably benign
R7685:Pramef6	UTSW	4	143897801	missense	probably benign	0.28
R7861:Pramef6	UTSW	4	143897718	missense	possibly damaging	0.75
Z1176:Pramef6	UTSW	4	143895684	missense	probably damaging	1.00
Z1177:Pramef6	UTSW	4	143897199	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- GGTTTTCCATCTCAACACAACTAC -3'
(R):5'- TGGACAGCCTGAAGAAGCTG -3'

Sequencing Primer
(F):5'- CCTCAAATCAGAAGAATTTGACTGAC -3'
(R):5'- CCTGAAGAAGCTGCTGCAG -3'

Posted On

2019-06-26