Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02222:Pramef6'

285174

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramef6

Ensembl Gene

ENSMUSG00000078512

Gene Name

PRAME family member 6

Synonyms

Gm13099

Accession Numbers

Is this an essential gene?

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

Stock #

IGL02222

Quality Score

Status

Chromosome

Chromosomal Location

143894237-143900380 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143895846 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 313 (M313T)

Ref Sequence

ENSEMBL: ENSMUSP00000080350 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081645
AA Change: M313T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080350
Gene: ENSMUSG00000078512
AA Change: M313T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105767
AA Change: M313T

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101393
Gene: ENSMUSG00000078512
AA Change: M313T

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,282,886	R1682W	probably benign	Het
Angptl6	A	T	9: 20,873,907	M450K	probably damaging	Het
Armc12	C	A	17: 28,538,720	N275K	probably damaging	Het
Cd27	T	C	6: 125,234,532	H144R	probably damaging	Het
Cenpf	T	C	1: 189,654,444	K1880E	probably benign	Het
Dchs1	A	T	7: 105,764,887	I907N	probably damaging	Het
Dpy19l4	A	C	4: 11,281,116	F443C	possibly damaging	Het
Eif3i	C	T	4: 129,592,088	D315N	possibly damaging	Het
Fam217a	A	G	13: 34,911,119	L128P	probably damaging	Het
Fam46b	T	C	4: 133,486,553	V245A	probably damaging	Het
Fetub	C	T	16: 22,932,328	L62F	probably damaging	Het
Fmn1	A	T	2: 113,593,109	I1047F	probably damaging	Het
G2e3	A	G	12: 51,363,233	H267R	probably damaging	Het
Gigyf2	A	G	1: 87,410,863		probably null	Het
Gm10650	T	C	3: 128,040,140		noncoding transcript	Het
Grip1	C	T	10: 119,999,809	T470I	probably damaging	Het
Hmcn1	T	G	1: 150,806,401	D466A	probably benign	Het
Lrrc63	T	C	14: 75,086,140	Y548C	probably damaging	Het
Naaa	T	C	5: 92,259,550		probably benign	Het
Parpbp	T	A	10: 88,140,085	E55D	possibly damaging	Het
Pnpt1	A	T	11: 29,159,327	D691V	possibly damaging	Het
Pnpt1	G	A	11: 29,130,842	A29T	probably benign	Het
Psg25	T	C	7: 18,529,727	N57S	probably damaging	Het
Selenbp2	T	A	3: 94,699,962	V168E	probably damaging	Het
Syne2	G	A	12: 75,952,843	E2337K	probably damaging	Het
Synj2	A	G	17: 6,037,480	T1269A	probably benign	Het
Tnfrsf13c	C	A	15: 82,223,163	V144L	probably damaging	Het
Uspl1	G	T	5: 149,194,044	V132L	probably benign	Het
Vmn2r58	T	A	7: 41,864,025	Y398F	possibly damaging	Het
Vps13a	T	A	19: 16,682,175	T1663S	probably benign	Het
Ythdc1	G	A	5: 86,828,043	R503H	possibly damaging	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
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
R7265:Pramef6	UTSW	4	143895421	missense	probably benign	0.00
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

Posted On

2015-04-16