Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02216:Pramef8'

284900

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramef8

Ensembl Gene

ENSMUSG00000046862

Gene Name

PRAME family member 8

Synonyms

4732496O08Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL02216

Quality Score

Status

Chromosome

Chromosomal Location

143412426-143421091 bp(+) (GRCm38)

Type of Mutation

splice site (59 bp from exon)

DNA Base Change (assembly)

T to A at 143417728 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037356] [ENSMUST00000059790] [ENSMUST00000132915] [ENSMUST00000155157]

Predicted Effect

probably damaging
Transcript: ENSMUST00000037356
AA Change: W215R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000041323
Gene: ENSMUSG00000046862
AA Change: W215R

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	205	410	3e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000059790
AA Change: W215R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000058676
Gene: ENSMUSG00000046862
AA Change: W215R

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	205	410	3e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126398

Predicted Effect

probably null
Transcript: ENSMUST00000132915

Predicted Effect

probably null
Transcript: ENSMUST00000155157

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	T	18: 38,252,860	I102F	probably damaging	Het
4930544D05Rik	T	C	11: 70,616,179	F48L	possibly damaging	Het
5830473C10Rik	T	C	5: 90,579,579		probably benign	Het
Adamts12	A	G	15: 11,241,485	N381S	possibly damaging	Het
Akp3	A	T	1: 87,127,650	Q473L	probably damaging	Het
Ap5s1	T	A	2: 131,212,967		probably benign	Het
Atp10b	T	A	11: 43,259,789	L1438Q	probably damaging	Het
B3galt4	G	A	17: 33,950,565	P233L	probably damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cc2d1a	C	A	8: 84,139,313	E393*	probably null	Het
Cd209a	G	T	8: 3,745,576	T165N	probably damaging	Het
Chid1	T	C	7: 141,496,593		probably benign	Het
Cln3	A	T	7: 126,575,342		probably null	Het
Cped1	A	T	6: 22,059,945	R203S	probably damaging	Het
Dnttip2	G	T	3: 122,276,261	W375L	probably benign	Het
Dync1h1	T	C	12: 110,663,002	F4280S	probably damaging	Het
Ephb4	A	G	5: 137,372,070	D844G	possibly damaging	Het
Fhl2	T	A	1: 43,131,719	E145V	probably null	Het
Gne	T	C	4: 44,044,761	K458E	probably benign	Het
Grid2	G	T	6: 64,345,666	R550L	probably damaging	Het
Klhl1	T	A	14: 96,123,222	T731S	probably benign	Het
Kng1	T	A	16: 23,058,533	D30E	probably damaging	Het
Kyat1	A	G	2: 30,187,252	V158A	probably benign	Het
Mcm8	G	T	2: 132,839,529	V642F	probably damaging	Het
Mdn1	C	T	4: 32,739,092	H3638Y	probably benign	Het
Neb	T	G	2: 52,226,490	T4158P	probably benign	Het
Neo1	T	C	9: 58,917,053	I697M	probably damaging	Het
Nfkb1	A	T	3: 135,594,963	V614D	probably damaging	Het
Olfr860	G	A	9: 19,846,565	S18L	probably damaging	Het
Otog	T	C	7: 46,301,468	S2555P	probably damaging	Het
Pkd1l1	T	A	11: 8,834,897	R1962S	probably damaging	Het
Plxnb1	A	G	9: 109,100,850	Y258C	probably damaging	Het
Prl3a1	A	G	13: 27,270,144	D35G	probably benign	Het
Rag1	A	T	2: 101,643,381	V472D	possibly damaging	Het
Rbpj-ps3	G	A	6: 46,529,707		probably benign	Het
Rnf112	C	T	11: 61,449,978	V472M	probably damaging	Het
Rps18	A	G	17: 33,952,041		probably benign	Het
Rptn	T	C	3: 93,395,773	S138P	possibly damaging	Het
Sbpl	A	C	17: 23,953,716	N76K	probably benign	Het
Sh3bp1	A	T	15: 78,905,164	M241L	probably benign	Het
Slc22a17	T	C	14: 54,907,976	*198W	probably null	Het
Smc3	C	T	19: 53,621,844	R221C	probably damaging	Het
Snai1	A	G	2: 167,538,848	E87G	probably benign	Het
Snx22	C	A	9: 66,069,188	A49S	probably benign	Het
Tas2r143	A	T	6: 42,400,334	R33*	probably null	Het
Try4	A	G	6: 41,305,031	I184V	probably benign	Het
Ttn	A	G	2: 76,791,725	V15491A	probably benign	Het
Ttn	T	A	2: 76,754,552	K20355*	probably null	Het
Vmn1r170	A	G	7: 23,606,490	T106A	probably damaging	Het
Vmn2r59	A	T	7: 42,012,393	V666E	probably damaging	Het
Vsx1	T	C	2: 150,684,575	N221S	possibly damaging	Het
Zcchc6	T	C	13: 59,800,423	T293A	probably benign	Het
Zfp846	A	G	9: 20,588,609	E45G	probably damaging	Het

Other mutations in Pramef8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Pramef8	APN	4	143416667	start codon destroyed	probably null	1.00
IGL01483:Pramef8	APN	4	143417477	missense	probably damaging	0.99
IGL01800:Pramef8	APN	4	143419080	missense	probably damaging	1.00
IGL02063:Pramef8	APN	4	143417851	missense	probably benign	0.00
IGL02236:Pramef8	APN	4	143416942	missense	probably benign	0.07
IGL03013:Pramef8	APN	4	143417467	missense	possibly damaging	0.64
R0658:Pramef8	UTSW	4	143417600	missense	probably damaging	1.00
R1485:Pramef8	UTSW	4	143417618	missense	probably benign	0.01
R2049:Pramef8	UTSW	4	143416871	missense	probably damaging	1.00
R2518:Pramef8	UTSW	4	143417903	missense	possibly damaging	0.89
R3720:Pramef8	UTSW	4	143419379	missense	probably benign	0.10
R3738:Pramef8	UTSW	4	143416642	utr 5 prime	probably benign
R3961:Pramef8	UTSW	4	143419318	missense	probably benign	0.00
R4583:Pramef8	UTSW	4	143416754	missense	probably damaging	1.00
R5135:Pramef8	UTSW	4	143419009	missense	probably benign	0.01
R5348:Pramef8	UTSW	4	143416781	missense	probably damaging	1.00
R5473:Pramef8	UTSW	4	143419304	missense	probably damaging	1.00
R5977:Pramef8	UTSW	4	143417659	missense	probably benign	0.02
R6909:Pramef8	UTSW	4	143417909	missense	probably damaging	1.00
R7441:Pramef8	UTSW	4	143418840	missense	probably benign	0.00
R7777:Pramef8	UTSW	4	143417761	missense	possibly damaging	0.88
R8053:Pramef8	UTSW	4	143417638	missense	probably benign	0.01
R8218:Pramef8	UTSW	4	143419136	missense	probably benign	0.01
R8345:Pramef8	UTSW	4	143416868	missense	probably benign	0.18

Posted On

2015-04-16