Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01403:Pramel15'

79725

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel15

Ensembl Gene

ENSMUSG00000073721

Gene Name

PRAME like 15

Synonyms

Pramef20, EG627009, Gm13125

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01403

Quality Score

Status

Chromosome

Chromosomal Location

144099330-144104503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144103703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 141 (M141K)

Ref Sequence

ENSEMBL: ENSMUSP00000112488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121109]

AlphaFold

B1ARV6

Predicted Effect

probably benign
Transcript: ENSMUST00000121109
AA Change: M141K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000112488
Gene: ENSMUSG00000073721
AA Change: M141K

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	222	409	1e-11	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,836,602 (GRCm39)	L1103Q	probably damaging	Het
Adam12	T	A	7: 133,521,339 (GRCm39)	Q605L	probably benign	Het
Adk	A	G	14: 21,284,983 (GRCm39)	K102R	probably damaging	Het
Afdn	C	T	17: 14,124,132 (GRCm39)	P1761S	probably damaging	Het
Ascc1	A	G	10: 59,848,280 (GRCm39)		probably benign	Het
Aspdh	A	G	7: 44,115,983 (GRCm39)		probably null	Het
Bbx	T	C	16: 50,022,876 (GRCm39)	I753V	probably benign	Het
Ccdc33	T	C	9: 58,024,668 (GRCm39)	Y186C	probably damaging	Het
Ccdc78	T	A	17: 26,007,218 (GRCm39)		probably null	Het
Ckmt1	T	C	2: 121,193,447 (GRCm39)		probably benign	Het
Csf1r	A	G	18: 61,247,897 (GRCm39)	T322A	probably benign	Het
Dnah7b	T	C	1: 46,155,460 (GRCm39)		probably benign	Het
Dr1	A	G	5: 108,417,576 (GRCm39)	N41D	possibly damaging	Het
Ehmt1	G	A	2: 24,729,638 (GRCm39)	T633I	possibly damaging	Het
Fgf7	T	A	2: 125,877,860 (GRCm39)	Y76N	probably damaging	Het
Hmcn1	A	T	1: 150,468,848 (GRCm39)	W5038R	probably damaging	Het
Ighv14-1	A	G	12: 113,895,862 (GRCm39)	V21A	probably damaging	Het
Igkv5-37	T	A	6: 69,940,420 (GRCm39)	I75F	probably damaging	Het
Inhbc	T	A	10: 127,205,968 (GRCm39)	I100F	probably damaging	Het
Irs3	A	G	5: 137,643,581 (GRCm39)	F68L	probably damaging	Het
Itpr3	T	A	17: 27,337,569 (GRCm39)	C2460S	probably damaging	Het
Krt34	A	G	11: 99,929,116 (GRCm39)	C365R	possibly damaging	Het
Krt81	G	A	15: 101,361,269 (GRCm39)	H104Y	probably benign	Het
Ly6g	A	G	15: 75,030,497 (GRCm39)	N82S	probably damaging	Het
Mrpl58	A	T	11: 115,297,404 (GRCm39)	I72F	probably damaging	Het
Myo9a	G	A	9: 59,778,846 (GRCm39)	R1534H	probably damaging	Het
Npat	T	A	9: 53,466,429 (GRCm39)	F239L	probably benign	Het
Nsd2	A	G	5: 34,042,722 (GRCm39)		probably benign	Het
Nuggc	T	C	14: 65,860,635 (GRCm39)	V427A	probably benign	Het
Or52b1	G	A	7: 104,978,605 (GRCm39)	R265C	probably benign	Het
Or5p55	A	G	7: 107,566,828 (GRCm39)	T75A	possibly damaging	Het
Pde4a	A	T	9: 21,116,412 (GRCm39)	I467F	probably damaging	Het
Pkhd1l1	T	A	15: 44,347,229 (GRCm39)	C198*	probably null	Het
Pla2r1	A	G	2: 60,254,632 (GRCm39)	V1312A	probably damaging	Het
Pola2	T	C	19: 6,009,121 (GRCm39)	H79R	probably benign	Het
Potefam1	T	C	2: 111,059,515 (GRCm39)		probably benign	Het
Psen2	A	T	1: 180,062,548 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,334,126 (GRCm39)	K3112E	probably damaging	Het
Slc6a4	G	T	11: 76,922,498 (GRCm39)	V630L	probably benign	Het
Smg1	A	T	7: 117,757,355 (GRCm39)		probably benign	Het
Tmc8	A	G	11: 117,681,900 (GRCm39)	T510A	possibly damaging	Het
Usp18	T	A	6: 121,245,627 (GRCm39)	H334Q	possibly damaging	Het
Vmn2r103	T	C	17: 20,013,229 (GRCm39)	Y117H	probably benign	Het
Vps13b	T	A	15: 35,709,625 (GRCm39)	D1857E	probably benign	Het

Other mutations in Pramel15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01516:Pramel15	APN	4	144,104,337 (GRCm39)	missense	probably damaging	1.00
IGL02655:Pramel15	APN	4	144,099,416 (GRCm39)	missense	probably benign	0.05
IGL02983:Pramel15	APN	4	144,099,697 (GRCm39)	missense	probably benign	0.24
R0201:Pramel15	UTSW	4	144,103,843 (GRCm39)	splice site	probably benign
R1882:Pramel15	UTSW	4	144,103,485 (GRCm39)	missense	probably benign	0.03
R4440:Pramel15	UTSW	4	144,099,437 (GRCm39)	missense	probably benign
R4805:Pramel15	UTSW	4	144,103,590 (GRCm39)	missense	probably benign	0.08
R4823:Pramel15	UTSW	4	144,099,781 (GRCm39)	missense	possibly damaging	0.81
R4925:Pramel15	UTSW	4	144,104,502 (GRCm39)	start codon destroyed	probably null	1.00
R5024:Pramel15	UTSW	4	144,099,878 (GRCm39)	nonsense	probably null
R5472:Pramel15	UTSW	4	144,103,727 (GRCm39)	missense	probably benign	0.00
R6133:Pramel15	UTSW	4	144,104,347 (GRCm39)	missense	possibly damaging	0.81
R6495:Pramel15	UTSW	4	144,103,409 (GRCm39)	missense	probably benign	0.43
R6585:Pramel15	UTSW	4	144,103,600 (GRCm39)	missense	possibly damaging	0.87
R6732:Pramel15	UTSW	4	144,099,743 (GRCm39)	missense	probably benign	0.20
R7048:Pramel15	UTSW	4	144,103,754 (GRCm39)	missense	probably benign	0.15
R7165:Pramel15	UTSW	4	144,099,389 (GRCm39)	missense	probably damaging	0.97
R7469:Pramel15	UTSW	4	144,099,673 (GRCm39)	missense	probably damaging	1.00
R8873:Pramel15	UTSW	4	144,099,871 (GRCm39)	missense	probably benign	0.43
R8891:Pramel15	UTSW	4	144,099,397 (GRCm39)	missense	probably damaging	0.99
R8909:Pramel15	UTSW	4	144,103,553 (GRCm39)	missense	probably benign	0.06
R9597:Pramel15	UTSW	4	144,103,526 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-05