Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02548:Pramel17'

297938

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel17

Ensembl Gene

ENSMUSG00000035201

Gene Name

PRAME like 17

Synonyms

B020004J07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02548

Quality Score

Status

Chromosome

Chromosomal Location

101692166-101701219 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101692770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 410 (Y410F)

Ref Sequence

ENSEMBL: ENSMUSP00000102532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084386] [ENSMUST00000106919]

AlphaFold

Q3UTC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000084386
AA Change: Y410F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081421
Gene: ENSMUSG00000035201
AA Change: Y410F

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	219	405	2e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106919
AA Change: Y410F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102532
Gene: ENSMUSG00000035201
AA Change: Y410F

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	219	405	2e-10	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	G	A	7: 45,654,686 (GRCm39)	A545V	probably damaging	Het
Adam29	A	T	8: 56,325,902 (GRCm39)	L184*	probably null	Het
Ap1g1	C	T	8: 110,576,254 (GRCm39)	A432V	probably damaging	Het
Atrn	C	T	2: 130,814,202 (GRCm39)	T716I	probably damaging	Het
Bahd1	C	A	2: 118,747,526 (GRCm39)	Q382K	possibly damaging	Het
Barhl2	A	G	5: 106,603,391 (GRCm39)	V256A	probably benign	Het
Camta2	A	G	11: 70,561,511 (GRCm39)	F1113L	probably damaging	Het
Cdh23	G	T	10: 60,485,901 (GRCm39)	T38K	probably benign	Het
Cmtm3	T	C	8: 105,071,437 (GRCm39)	L111P	probably damaging	Het
Col27a1	T	C	4: 63,236,492 (GRCm39)		probably benign	Het
Cyp2c29	G	A	19: 39,279,291 (GRCm39)	G96D	possibly damaging	Het
Flt1	C	A	5: 147,576,058 (GRCm39)	R650L	probably benign	Het
Fpr1	T	A	17: 18,096,915 (GRCm39)	E358V	probably benign	Het
Ggnbp2	A	T	11: 84,753,112 (GRCm39)	N42K	possibly damaging	Het
Gldc	T	C	19: 30,077,299 (GRCm39)	T958A	probably benign	Het
Gm3573	A	G	14: 42,009,452 (GRCm39)		probably null	Het
Hspbp1	T	C	7: 4,684,840 (GRCm39)		probably benign	Het
Jhy	G	T	9: 40,828,471 (GRCm39)	Y478*	probably null	Het
Kiz	A	G	2: 146,712,690 (GRCm39)	E118G	probably damaging	Het
Klhdc1	A	G	12: 69,300,492 (GRCm39)	Y144C	probably benign	Het
Lamc3	A	T	2: 31,810,674 (GRCm39)	Y848F	probably benign	Het
Mixl1	T	C	1: 180,522,269 (GRCm39)	E204G	probably benign	Het
Muc2	T	A	7: 141,305,594 (GRCm39)	C202S	probably damaging	Het
Nfatc1	T	C	18: 80,741,113 (GRCm39)	S282G	probably damaging	Het
Or2j6	T	A	7: 139,980,575 (GRCm39)	Y128F	probably damaging	Het
Or5b111	T	C	19: 13,291,302 (GRCm39)	M116V	probably damaging	Het
Or5k8	C	A	16: 58,644,691 (GRCm39)	C127F	probably benign	Het
Orc2	A	T	1: 58,505,281 (GRCm39)		probably benign	Het
Pcdhb10	T	C	18: 37,545,743 (GRCm39)	I273T	probably benign	Het
Pdzph1	G	A	17: 59,280,386 (GRCm39)	T632I	probably benign	Het
Phf1	A	G	17: 27,154,600 (GRCm39)	Y225C	probably damaging	Het
Prcp	T	C	7: 92,550,382 (GRCm39)	F60L	probably damaging	Het
Psg21	C	T	7: 18,388,961 (GRCm39)	V44I	possibly damaging	Het
Ptgdr	C	T	14: 45,096,071 (GRCm39)	V214M	probably damaging	Het
Pth1r	G	A	9: 110,556,748 (GRCm39)	R181W	probably damaging	Het
Ralgapb	A	G	2: 158,286,585 (GRCm39)	I343M	probably damaging	Het
Retreg1	C	T	15: 25,895,204 (GRCm39)	Q128*	probably null	Het
Rrbp1	T	C	2: 143,791,679 (GRCm39)		probably benign	Het
Skint5	T	A	4: 113,588,273 (GRCm39)	M726L	unknown	Het
Slc6a18	T	C	13: 73,818,114 (GRCm39)	Y301C	probably damaging	Het
Slc8a3	G	A	12: 81,250,930 (GRCm39)		probably benign	Het
Tacr3	C	A	3: 134,535,232 (GRCm39)	Q67K	probably damaging	Het
Tfrc	A	T	16: 32,443,640 (GRCm39)	K534*	probably null	Het
Timp3	T	A	10: 86,174,315 (GRCm39)	M67K	probably benign	Het
Tmem120a	C	T	5: 135,765,628 (GRCm39)	E179K	probably damaging	Het
Tomm40l	G	A	1: 171,049,216 (GRCm39)		probably benign	Het
Tubal3	A	G	13: 3,980,554 (GRCm39)	R89G	probably benign	Het
Wdr35	A	T	12: 9,074,297 (GRCm39)	N976I	probably benign	Het
Zfp292	T	C	4: 34,805,416 (GRCm39)	T2543A	probably damaging	Het
Zfp976	T	A	7: 42,261,953 (GRCm39)	H628L	unknown	Het
Zmynd8	A	G	2: 165,675,325 (GRCm39)	V301A	probably damaging	Het

Other mutations in Pramel17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01083:Pramel17	APN	4	101,692,729 (GRCm39)	missense	probably benign
IGL01615:Pramel17	APN	4	101,694,201 (GRCm39)	missense	possibly damaging	0.63
IGL01765:Pramel17	APN	4	101,695,049 (GRCm39)	missense	probably benign	0.03
IGL02228:Pramel17	APN	4	101,694,055 (GRCm39)	missense	probably benign	0.03
IGL02276:Pramel17	APN	4	101,695,306 (GRCm39)	missense	possibly damaging	0.89
IGL03226:Pramel17	APN	4	101,692,594 (GRCm39)	missense	probably benign	0.00
R0124:Pramel17	UTSW	4	101,692,570 (GRCm39)	makesense	probably null
R0449:Pramel17	UTSW	4	101,694,158 (GRCm39)	missense	probably benign	0.01
R0573:Pramel17	UTSW	4	101,692,611 (GRCm39)	missense	probably damaging	0.96
R1159:Pramel17	UTSW	4	101,695,224 (GRCm39)	missense	possibly damaging	0.54
R1689:Pramel17	UTSW	4	101,694,376 (GRCm39)	missense	possibly damaging	0.63
R1857:Pramel17	UTSW	4	101,692,770 (GRCm39)	missense	probably damaging	1.00
R1861:Pramel17	UTSW	4	101,694,135 (GRCm39)	missense	probably benign
R2570:Pramel17	UTSW	4	101,694,443 (GRCm39)	missense	probably benign	0.01
R3886:Pramel17	UTSW	4	101,692,920 (GRCm39)	missense	probably benign	0.09
R4922:Pramel17	UTSW	4	101,692,729 (GRCm39)	missense	probably benign
R4984:Pramel17	UTSW	4	101,692,796 (GRCm39)	missense	possibly damaging	0.63
R5503:Pramel17	UTSW	4	101,692,999 (GRCm39)	missense	probably benign	0.00
R6230:Pramel17	UTSW	4	101,694,411 (GRCm39)	missense	probably damaging	0.96
R6831:Pramel17	UTSW	4	101,694,094 (GRCm39)	missense	probably benign	0.26
R7172:Pramel17	UTSW	4	101,694,193 (GRCm39)	missense	probably benign	0.00
R7201:Pramel17	UTSW	4	101,695,338 (GRCm39)	critical splice acceptor site	probably null
R7220:Pramel17	UTSW	4	101,694,565 (GRCm39)	missense	probably benign	0.00
R7253:Pramel17	UTSW	4	101,692,725 (GRCm39)	missense	probably benign	0.31
R7545:Pramel17	UTSW	4	101,695,159 (GRCm39)	missense	probably benign	0.00
R7567:Pramel17	UTSW	4	101,694,331 (GRCm39)	missense	probably benign	0.00
R7763:Pramel17	UTSW	4	101,694,338 (GRCm39)	missense	possibly damaging	0.95
R8003:Pramel17	UTSW	4	101,693,130 (GRCm39)	missense	probably benign	0.21
R8005:Pramel17	UTSW	4	101,694,448 (GRCm39)	missense	probably damaging	1.00
R8836:Pramel17	UTSW	4	101,693,022 (GRCm39)	missense	probably benign	0.00
R9125:Pramel17	UTSW	4	101,694,073 (GRCm39)	missense	probably benign	0.26
R9332:Pramel17	UTSW	4	101,695,144 (GRCm39)	missense	probably damaging	1.00
R9545:Pramel17	UTSW	4	101,693,097 (GRCm39)	missense	probably damaging	0.99
R9733:Pramel17	UTSW	4	101,692,965 (GRCm39)	missense	possibly damaging	0.74
R9775:Pramel17	UTSW	4	101,694,244 (GRCm39)	missense	probably benign	0.06

Posted On

2015-04-16