Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01360:Pramel19'

75689

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel19

Ensembl Gene

ENSMUSG00000070890

Gene Name

PRAME like 19

Synonyms

Gm12794

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

IGL01360

Quality Score

Status

Chromosome

Chromosomal Location

101797604-101800380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101797665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 21 (D21V)

Ref Sequence

ENSEMBL: ENSMUSP00000051550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052027]

AlphaFold

L7MTS5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052027
AA Change: D21V

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051550
Gene: ENSMUSG00000070890
AA Change: D21V

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	257	409	9e-11	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,325,648 (GRCm39)	I1517L	possibly damaging	Het
Akap12	A	T	10: 4,307,537 (GRCm39)	D1449V	probably benign	Het
Alg6	T	A	4: 99,630,643 (GRCm39)	Y161N	probably benign	Het
Arhgap45	A	T	10: 79,864,482 (GRCm39)		probably benign	Het
Arhgap5	A	T	12: 52,565,023 (GRCm39)	I665F	probably damaging	Het
Bbs4	A	G	9: 59,247,131 (GRCm39)	V123A	possibly damaging	Het
Carm1	C	T	9: 21,498,598 (GRCm39)	T480I	probably benign	Het
Catsperb	G	A	12: 101,591,513 (GRCm39)	V1032M	probably damaging	Het
Cdc42bpb	A	C	12: 111,308,509 (GRCm39)	I101S	probably damaging	Het
Copa	C	A	1: 171,915,155 (GRCm39)		probably null	Het
Cramp1	T	C	17: 25,216,547 (GRCm39)	I189V	probably damaging	Het
Dhx33	G	A	11: 70,884,687 (GRCm39)	Q40*	probably null	Het
Egf	A	T	3: 129,533,669 (GRCm39)	F57Y	probably damaging	Het
Flt4	T	C	11: 49,534,333 (GRCm39)	I1168T	probably benign	Het
Gm14178	A	G	11: 99,638,269 (GRCm39)	S37P	unknown	Het
Gpbp1	A	T	13: 111,563,075 (GRCm39)		probably benign	Het
Herc1	T	C	9: 66,390,981 (GRCm39)	S3980P	probably benign	Het
Itga6	T	C	2: 71,617,670 (GRCm39)		probably null	Het
Itgb4	T	C	11: 115,881,766 (GRCm39)	S772P	probably damaging	Het
Kcng4	C	A	8: 120,352,416 (GRCm39)	G498V	probably benign	Het
Lrp1	T	G	10: 127,381,689 (GRCm39)	D3795A	possibly damaging	Het
Lrrk2	T	A	15: 91,584,772 (GRCm39)		probably null	Het
Mettl25	A	T	10: 105,659,058 (GRCm39)	H408Q	probably damaging	Het
Mki67	T	C	7: 135,307,505 (GRCm39)	E457G	probably damaging	Het
Mpl	G	A	4: 118,312,858 (GRCm39)	T158I	possibly damaging	Het
Mtg2	C	T	2: 179,725,870 (GRCm39)	T160I	probably damaging	Het
Mtif2	A	G	11: 29,480,110 (GRCm39)	I59V	probably benign	Het
Ncapg	C	A	5: 45,831,727 (GRCm39)	S191*	probably null	Het
Nup214	T	C	2: 31,928,190 (GRCm39)		probably benign	Het
Or9m1	T	C	2: 87,733,871 (GRCm39)	T50A	probably benign	Het
Phf3	T	A	1: 30,847,809 (GRCm39)	T1245S	probably damaging	Het
Piezo2	T	C	18: 63,250,770 (GRCm39)	D443G	probably damaging	Het
Ptchd4	C	A	17: 42,627,936 (GRCm39)	H132Q	probably benign	Het
Pum1	T	C	4: 130,455,481 (GRCm39)		probably benign	Het
Slc30a7	A	T	3: 115,783,765 (GRCm39)	V136E	probably damaging	Het
Slc5a10	A	G	11: 61,605,962 (GRCm39)	V116A	probably damaging	Het
Sos2	A	T	12: 69,637,574 (GRCm39)	S1046T	probably benign	Het
Svep1	A	G	4: 58,116,554 (GRCm39)	S899P	possibly damaging	Het
Tfr2	G	A	5: 137,569,953 (GRCm39)	V120I	probably benign	Het
Tnfrsf18	A	T	4: 156,112,493 (GRCm39)	R117*	probably null	Het
Trmt9b	A	G	8: 36,979,713 (GRCm39)	I439V	probably benign	Het
Vmn1r77	T	G	7: 11,775,315 (GRCm39)	F30L	probably benign	Het
Vmn2r112	T	C	17: 22,837,603 (GRCm39)	M688T	probably benign	Het
Vmn2r93	T	A	17: 18,525,510 (GRCm39)	D389E	possibly damaging	Het
Zpld1	T	G	16: 55,046,748 (GRCm39)	N407T	probably benign	Het
Zranb3	C	T	1: 127,887,622 (GRCm39)	W935*	probably null	Het
Zyx	G	A	6: 42,327,378 (GRCm39)	R59Q	probably damaging	Het

Other mutations in Pramel19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Pramel19	APN	4	101,798,898 (GRCm39)	missense	probably benign	0.02
IGL01837:Pramel19	APN	4	101,798,650 (GRCm39)	missense	probably damaging	1.00
IGL01870:Pramel19	APN	4	101,797,887 (GRCm39)	missense	probably benign	0.03
IGL02040:Pramel19	APN	4	101,798,331 (GRCm39)	missense	possibly damaging	0.94
IGL03264:Pramel19	APN	4	101,798,329 (GRCm39)	missense	probably damaging	0.99
R0033:Pramel19	UTSW	4	101,798,881 (GRCm39)	missense	probably benign
R0334:Pramel19	UTSW	4	101,798,781 (GRCm39)	missense	probably benign	0.01
R0846:Pramel19	UTSW	4	101,798,447 (GRCm39)	missense	probably benign	0.00
R1464:Pramel19	UTSW	4	101,798,503 (GRCm39)	missense	probably damaging	0.97
R1464:Pramel19	UTSW	4	101,798,503 (GRCm39)	missense	probably damaging	0.97
R1774:Pramel19	UTSW	4	101,797,655 (GRCm39)	missense	probably benign	0.27
R1888:Pramel19	UTSW	4	101,798,335 (GRCm39)	missense	probably damaging	0.99
R1888:Pramel19	UTSW	4	101,798,335 (GRCm39)	missense	probably damaging	0.99
R4510:Pramel19	UTSW	4	101,798,757 (GRCm39)	missense	probably benign	0.00
R4511:Pramel19	UTSW	4	101,798,757 (GRCm39)	missense	probably benign	0.00
R4890:Pramel19	UTSW	4	101,798,788 (GRCm39)	missense	probably damaging	0.99
R4960:Pramel19	UTSW	4	101,798,661 (GRCm39)	missense	probably benign
R5043:Pramel19	UTSW	4	101,797,721 (GRCm39)	missense	possibly damaging	0.89
R5297:Pramel19	UTSW	4	101,798,348 (GRCm39)	missense	possibly damaging	0.46
R5780:Pramel19	UTSW	4	101,798,724 (GRCm39)	missense	probably damaging	1.00
R5957:Pramel19	UTSW	4	101,798,898 (GRCm39)	missense	probably benign	0.02
R6409:Pramel19	UTSW	4	101,797,874 (GRCm39)	nonsense	probably null
R6452:Pramel19	UTSW	4	101,798,640 (GRCm39)	missense	probably benign	0.02
R7619:Pramel19	UTSW	4	101,798,497 (GRCm39)	missense	probably benign	0.01
R8460:Pramel19	UTSW	4	101,798,424 (GRCm39)	missense	probably benign	0.00
R9202:Pramel19	UTSW	4	101,797,860 (GRCm39)	missense	probably damaging	0.98
Z1177:Pramel19	UTSW	4	101,798,322 (GRCm39)	nonsense	probably null

Posted On

2013-10-07