Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02430:Pramel18'

293084

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel18

Ensembl Gene

ENSMUSG00000037028

Gene Name

PRAME like 18

Synonyms

Gm12800

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL02430

Quality Score

Status

Chromosome

Chromosomal Location

101766318-101769105 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101767477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 242 (Y242C)

Ref Sequence

ENSEMBL: ENSMUSP00000075380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075999]

AlphaFold

B1AUV4

Predicted Effect

probably benign
Transcript: ENSMUST00000075999
AA Change: Y242C

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000075380
Gene: ENSMUSG00000037028
AA Change: Y242C

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	206	410	9e-11	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap33	T	C	7: 30,222,185 (GRCm39)	E1249G	probably benign	Het
C8a	G	A	4: 104,674,719 (GRCm39)	T540I	probably damaging	Het
Clcnkb	C	A	4: 141,136,701 (GRCm39)	W388L	possibly damaging	Het
Cnbp	A	T	6: 87,822,160 (GRCm39)	Y114*	probably null	Het
Col13a1	A	G	10: 61,710,530 (GRCm39)	V337A	probably benign	Het
Cyp2e1	A	G	7: 140,350,139 (GRCm39)	K275E	probably damaging	Het
Dchs1	A	G	7: 105,421,178 (GRCm39)	V414A	probably benign	Het
Ebf1	G	A	11: 44,815,403 (GRCm39)		probably null	Het
Gabbr1	C	T	17: 37,367,200 (GRCm39)	R198*	probably null	Het
Gpaa1	T	C	15: 76,216,388 (GRCm39)	S36P	possibly damaging	Het
Hipk1	A	G	3: 103,667,971 (GRCm39)	V532A	probably damaging	Het
Klhl18	A	T	9: 110,266,469 (GRCm39)	C217S	probably benign	Het
Lmntd1	T	A	6: 145,359,140 (GRCm39)	T191S	probably benign	Het
Ltbp2	T	A	12: 84,846,175 (GRCm39)	Y925F	probably damaging	Het
Lvrn	A	G	18: 47,027,797 (GRCm39)	I871V	probably benign	Het
Mrgprb1	A	G	7: 48,097,409 (GRCm39)	S168P	possibly damaging	Het
Or11g24	A	G	14: 50,662,608 (GRCm39)	I211V	probably benign	Het
Or5p70	A	T	7: 107,994,929 (GRCm39)	I201F	probably benign	Het
Pcnx1	T	A	12: 81,966,096 (GRCm39)	N754K	possibly damaging	Het
Plaa	A	T	4: 94,470,810 (GRCm39)	M442K	probably benign	Het
Pole3	T	C	4: 62,443,056 (GRCm39)	N28S	possibly damaging	Het
Prlr	A	G	15: 10,325,477 (GRCm39)	K4E	probably damaging	Het
Rp1l1	A	T	14: 64,266,735 (GRCm39)	T774S	probably benign	Het
Selp	C	A	1: 163,953,952 (GRCm39)	P84Q	probably damaging	Het
Sh3bp4	T	A	1: 89,080,885 (GRCm39)	W901R	probably null	Het
Slc6a20b	A	G	9: 123,426,305 (GRCm39)	Y527H	probably damaging	Het
Slit3	T	A	11: 35,068,601 (GRCm39)		probably null	Het
Spidr	C	T	16: 15,932,774 (GRCm39)	D169N	probably damaging	Het
Sstr2	T	C	11: 113,515,630 (GRCm39)	L183P	probably damaging	Het
Tmem62	C	T	2: 120,817,143 (GRCm39)	T233I	probably damaging	Het
Uba7	A	G	9: 107,856,667 (GRCm39)		probably benign	Het
Ubc	A	T	5: 125,464,634 (GRCm39)	I231N	probably damaging	Het
Ubl3	A	T	5: 148,488,766 (GRCm39)	D8E	probably benign	Het
Unc5a	A	G	13: 55,150,295 (GRCm39)	I465M	probably damaging	Het
Vmn2r106	A	G	17: 20,499,158 (GRCm39)	I251T	probably benign	Het
Vwa8	T	C	14: 79,172,085 (GRCm39)		probably null	Het
Washc5	A	G	15: 59,238,140 (GRCm39)	Y195H	probably damaging	Het
Wdr27	A	C	17: 15,122,062 (GRCm39)	S615A	probably damaging	Het
Zfp160	T	A	17: 21,245,792 (GRCm39)	L114H	possibly damaging	Het
Zfp523	T	C	17: 28,414,113 (GRCm39)		probably benign	Het

Other mutations in Pramel18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02683:Pramel18	APN	4	101,767,551 (GRCm39)	missense	probably benign	0.00
IGL03403:Pramel18	APN	4	101,767,125 (GRCm39)	missense	probably benign	0.40
R0833:Pramel18	UTSW	4	101,767,294 (GRCm39)	missense	probably damaging	0.97
R1054:Pramel18	UTSW	4	101,766,361 (GRCm39)	missense	probably benign	0.00
R1953:Pramel18	UTSW	4	101,767,312 (GRCm39)	missense	probably benign
R2216:Pramel18	UTSW	4	101,767,257 (GRCm39)	missense	probably damaging	0.99
R3746:Pramel18	UTSW	4	101,767,073 (GRCm39)	missense	possibly damaging	0.63
R3747:Pramel18	UTSW	4	101,767,073 (GRCm39)	missense	possibly damaging	0.63
R3750:Pramel18	UTSW	4	101,767,073 (GRCm39)	missense	possibly damaging	0.63
R4931:Pramel18	UTSW	4	101,766,367 (GRCm39)	missense	possibly damaging	0.47
R5102:Pramel18	UTSW	4	101,766,436 (GRCm39)	missense	probably damaging	1.00
R5586:Pramel18	UTSW	4	101,767,317 (GRCm39)	missense	probably benign	0.00
R5822:Pramel18	UTSW	4	101,767,440 (GRCm39)	missense	probably damaging	1.00
R6395:Pramel18	UTSW	4	101,767,189 (GRCm39)	missense	probably benign
R6904:Pramel18	UTSW	4	101,767,291 (GRCm39)	missense	possibly damaging	0.86
R7544:Pramel18	UTSW	4	101,768,599 (GRCm39)	missense	possibly damaging	0.56
R7768:Pramel18	UTSW	4	101,769,010 (GRCm39)	missense	probably benign
R8342:Pramel18	UTSW	4	101,767,581 (GRCm39)	missense	probably benign	0.01
R8917:Pramel18	UTSW	4	101,768,935 (GRCm39)	missense	probably benign	0.09
Z1088:Pramel18	UTSW	4	101,766,315 (GRCm39)	splice site	probably null
Z1088:Pramel18	UTSW	4	101,767,383 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16