Mutagenetix > Incidental Mutation

Incidental Mutation 'R8460:Pramel58'

655213

Institutional Source

Beutler Lab

Gene Symbol

Pramel58

Ensembl Gene

ENSMUSG00000092073

Gene Name

PRAME like 58

Synonyms

Gm6205

MMRRC Submission

067905-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R8460 (G1)

Quality Score

112.008

Status

Not validated

Chromosome

Chromosomal Location

94796275-94833419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94831790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 266 (C266S)

Ref Sequence

ENSEMBL: ENSMUSP00000131590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165424] [ENSMUST00000190001]

AlphaFold

E9PZS2

Predicted Effect

probably benign
Transcript: ENSMUST00000165424
AA Change: C266S

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131590
Gene: ENSMUSG00000092073
AA Change: C266S

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	199	359	1e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190001
AA Change: C266S

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139603
Gene: ENSMUSG00000092073
AA Change: C266S

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	199	359	1e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
6030458C11Rik	T	C	15: 12,818,545 (GRCm39)		probably benign	Het
Abcb11	T	C	2: 69,154,381 (GRCm39)	M62V	possibly damaging	Het
Adgrf5	C	A	17: 43,750,699 (GRCm39)		probably benign	Het
Arhgap23	T	A	11: 97,343,197 (GRCm39)	V493D	probably damaging	Het
Atg9b	T	C	5: 24,591,966 (GRCm39)	K678E	probably damaging	Het
Catsperg2	T	C	7: 29,404,744 (GRCm39)	D773G	possibly damaging	Het
Cd180	T	C	13: 102,839,354 (GRCm39)	L79P	probably damaging	Het
Celsr2	C	T	3: 108,304,093 (GRCm39)	S2350N	possibly damaging	Het
Cep85l	C	A	10: 53,225,313 (GRCm39)	R92L	probably benign	Het
Cyp21a1	T	C	17: 35,021,844 (GRCm39)	D241G	probably benign	Het
Dock2	C	A	11: 34,180,825 (GRCm39)		probably null	Het
Fam163a	A	G	1: 155,955,712 (GRCm39)	Y27H	probably damaging	Het
Gmnc	G	A	16: 26,779,204 (GRCm39)	L274F	probably benign	Het
Gpc2	A	T	5: 138,274,891 (GRCm39)	C283S	probably damaging	Het
Grm5	A	G	7: 87,252,249 (GRCm39)	I166M	probably damaging	Het
Ighv3-1	A	T	12: 113,928,056 (GRCm39)	L101*	probably null	Het
Impact	C	T	18: 13,109,564 (GRCm39)	S86L	probably benign	Het
Kif1b	C	T	4: 149,272,077 (GRCm39)	V1575I	possibly damaging	Het
Klhl6	A	G	16: 19,775,781 (GRCm39)	V259A	probably damaging	Het
Krt81	G	T	15: 101,361,493 (GRCm39)	A29E	probably damaging	Het
Ldah	A	G	12: 8,318,548 (GRCm39)	N219S	probably benign	Het
Map3k12	C	T	15: 102,410,032 (GRCm39)	R581Q	probably damaging	Het
Marveld3	T	C	8: 110,681,040 (GRCm39)	D285G	probably benign	Het
Mcpt2	A	G	14: 56,281,201 (GRCm39)	D135G	possibly damaging	Het
Megf6	T	A	4: 154,350,634 (GRCm39)	C1048*	probably null	Het
Megf9	A	T	4: 70,374,208 (GRCm39)	V276D	probably damaging	Het
Nfya	T	C	17: 48,698,974 (GRCm39)	H273R	possibly damaging	Het
Olah	T	A	2: 3,362,762 (GRCm39)	Q21H	probably damaging	Het
Or10s1	T	C	9: 39,986,353 (GRCm39)	L254P	probably damaging	Het
Or51t4	T	A	7: 102,598,531 (GRCm39)	C286*	probably null	Het
Or7g21	T	C	9: 19,032,988 (GRCm39)	S243P	probably damaging	Het
Or8b47	A	T	9: 38,427,926 (GRCm39)		probably benign	Het
Or8k23	T	G	2: 86,186,198 (GRCm39)	H176P	probably damaging	Het
Or9s23	T	A	1: 92,501,268 (GRCm39)	M125K	probably damaging	Het
Pcdhgb6	T	A	18: 37,877,278 (GRCm39)	L662Q	possibly damaging	Het
Pou4f3	T	C	18: 42,529,053 (GRCm39)	M332T	probably damaging	Het
Pramel19	C	T	4: 101,798,424 (GRCm39)	P132S	probably benign	Het
Prg4	G	A	1: 150,331,692 (GRCm39)	S327L	possibly damaging	Het
Rdh5	C	T	10: 128,754,136 (GRCm39)	R99H	probably benign	Het
Setd1a	T	C	7: 127,383,292 (GRCm39)	F263L	unknown	Het
Setd2	A	G	9: 110,423,338 (GRCm39)	N353S		Het
Sh3gl1	T	C	17: 56,326,321 (GRCm39)	N109S	probably benign	Het
Sidt1	A	T	16: 44,107,705 (GRCm39)	Y188*	probably null	Het
Slc25a13	A	T	6: 6,073,513 (GRCm39)	N448K	probably damaging	Het
Slc44a5	G	A	3: 153,975,667 (GRCm39)	V693M	probably benign	Het
Smad7	T	C	18: 75,503,968 (GRCm39)	S206P	probably damaging	Het
Snx33	T	A	9: 56,833,476 (GRCm39)	I198F	possibly damaging	Het
Vps13d	A	T	4: 144,897,009 (GRCm39)		probably benign	Het
Vps33b	T	C	7: 79,937,617 (GRCm39)	V455A	probably benign	Het
Zdbf2	CGCTCCGTGCCCCCCGCGCGCCCCGTGCCTCCCACGCGCCCCGTGCCTCCCGCAGGCTCCGTGCCCCCCGCG	CGCTCCGTGCCCCCCGCG	1: 63,348,729 (GRCm39)		probably benign	Het
Zfp26	A	T	9: 20,348,373 (GRCm39)	H730Q	probably damaging	Het

Other mutations in Pramel58

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02676:Pramel58	APN	5	94,831,730 (GRCm39)	missense	possibly damaging	0.64
PIT4469001:Pramel58	UTSW	5	94,830,652 (GRCm39)	missense	probably damaging	1.00
R6809:Pramel58	UTSW	5	94,831,277 (GRCm39)	missense	probably benign	0.10
R6816:Pramel58	UTSW	5	94,831,773 (GRCm39)	missense	possibly damaging	0.70
R7482:Pramel58	UTSW	5	94,830,739 (GRCm39)	missense	possibly damaging	0.87
R7583:Pramel58	UTSW	5	94,830,753 (GRCm39)	missense	possibly damaging	0.94
R7799:Pramel58	UTSW	5	94,831,287 (GRCm39)	missense	possibly damaging	0.94
R8307:Pramel58	UTSW	5	94,831,416 (GRCm39)	missense	probably damaging	1.00
R8334:Pramel58	UTSW	5	94,830,635 (GRCm39)	missense	probably benign	0.04
R8459:Pramel58	UTSW	5	94,830,742 (GRCm39)	missense	probably damaging	0.97
R8906:Pramel58	UTSW	5	94,831,413 (GRCm39)	missense	possibly damaging	0.58
R9151:Pramel58	UTSW	5	94,831,836 (GRCm39)	missense	possibly damaging	0.95
R9187:Pramel58	UTSW	5	94,831,755 (GRCm39)	missense	probably benign	0.21
Z1088:Pramel58	UTSW	5	94,831,692 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGACTCTGTTACAGCTTGCAC -3'
(R):5'- TGTACCCCATGAGTTCTCATTTGAG -3'

Sequencing Primer
(F):5'- GACTCTGTTACAGCTTGCACATTTTG -3'
(R):5'- TGAAACAAGATACAACTTTCTGAGTC -3'

Posted On

2020-10-20