Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00694:Pramel28'

277858

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel28

Ensembl Gene

ENSMUSG00000078510

Gene Name

PRAME like 28

Synonyms

Gm13101

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL00694

Quality Score

Status

Chromosome

Chromosomal Location

143691088-143693520 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 143692392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 203 (P203Q)

Ref Sequence

ENSEMBL: ENSMUSP00000101389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105763]

AlphaFold

A2ASJ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105763
AA Change: P203Q

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101389
Gene: ENSMUSG00000078510
AA Change: P203Q

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	210	414	2e-9	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	C	3: 151,145,033 (GRCm39)		probably benign	Het
Aqr	A	T	2: 113,982,006 (GRCm39)	D259E	probably damaging	Het
Arl14ep	A	T	2: 106,797,537 (GRCm39)	F153L	probably damaging	Het
Asb15	G	T	6: 24,570,663 (GRCm39)	R547L	possibly damaging	Het
Chd8	A	C	14: 52,455,427 (GRCm39)	V1020G	probably damaging	Het
Coq2	C	T	5: 100,803,180 (GRCm39)	S370N	probably benign	Het
Crebl2	T	A	6: 134,826,158 (GRCm39)	S36R	probably damaging	Het
Cyp2c29	A	T	19: 39,310,079 (GRCm39)	T263S	possibly damaging	Het
Edem1	T	C	6: 108,818,562 (GRCm39)	I190T	possibly damaging	Het
Fbn2	T	G	18: 58,170,881 (GRCm39)	E2170A	possibly damaging	Het
Gak	T	G	5: 108,761,500 (GRCm39)	*129C	probably null	Het
Hc	T	C	2: 34,881,641 (GRCm39)	I1436V	probably benign	Het
Kmt2c	A	T	5: 25,498,159 (GRCm39)	F534I	probably damaging	Het
Mfhas1	G	A	8: 36,057,925 (GRCm39)	R800Q	probably benign	Het
Npat	A	G	9: 53,474,817 (GRCm39)	T870A	probably benign	Het
Pde8a	T	C	7: 80,956,456 (GRCm39)	V285A	possibly damaging	Het
Potegl	A	T	2: 23,120,180 (GRCm39)	Q192L	probably damaging	Het
Slc25a26	T	A	6: 94,511,204 (GRCm39)	I127N	probably damaging	Het
Spag1	A	T	15: 36,227,317 (GRCm39)	E658V	possibly damaging	Het
St3gal2	A	T	8: 111,696,213 (GRCm39)	H266L	probably damaging	Het
Sult6b2	A	G	6: 142,736,015 (GRCm39)	I193T	possibly damaging	Het
Tas2r120	T	C	6: 132,634,238 (GRCm39)	F107L	probably benign	Het
Thoc1	A	G	18: 9,989,744 (GRCm39)	D475G	possibly damaging	Het
Tpo	T	A	12: 30,155,993 (GRCm39)	R169S	probably damaging	Het
Zhx2	A	G	15: 57,685,156 (GRCm39)	N175S	probably benign	Het

Other mutations in Pramel28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Pramel28	APN	4	143,693,184 (GRCm39)	splice site	probably benign
IGL00688:Pramel28	APN	4	143,692,392 (GRCm39)	missense	possibly damaging	0.62
IGL00690:Pramel28	APN	4	143,692,392 (GRCm39)	missense	possibly damaging	0.62
IGL00693:Pramel28	APN	4	143,692,392 (GRCm39)	missense	possibly damaging	0.62
IGL01412:Pramel28	APN	4	143,691,565 (GRCm39)	missense	probably damaging	1.00
IGL01781:Pramel28	APN	4	143,692,299 (GRCm39)	missense	probably benign
IGL02426:Pramel28	APN	4	143,693,229 (GRCm39)	missense	possibly damaging	0.75
IGL02508:Pramel28	APN	4	143,691,590 (GRCm39)	missense	probably benign	0.13
IGL03338:Pramel28	APN	4	143,692,608 (GRCm39)	missense	probably benign	0.03
IGL03338:Pramel28	APN	4	143,692,411 (GRCm39)	missense	probably benign	0.01
R0201:Pramel28	UTSW	4	143,691,460 (GRCm39)	missense	probably damaging	1.00
R0325:Pramel28	UTSW	4	143,693,310 (GRCm39)	missense	probably damaging	1.00
R0538:Pramel28	UTSW	4	143,691,653 (GRCm39)	missense	possibly damaging	0.76
R1471:Pramel28	UTSW	4	143,691,523 (GRCm39)	missense	probably benign	0.25
R1544:Pramel28	UTSW	4	143,692,632 (GRCm39)	missense	probably benign	0.00
R1891:Pramel28	UTSW	4	143,693,235 (GRCm39)	missense	probably damaging	1.00
R2012:Pramel28	UTSW	4	143,692,637 (GRCm39)	missense	probably benign	0.00
R2105:Pramel28	UTSW	4	143,692,390 (GRCm39)	missense	probably benign
R2939:Pramel28	UTSW	4	143,693,247 (GRCm39)	missense	probably benign	0.00
R2940:Pramel28	UTSW	4	143,693,247 (GRCm39)	missense	probably benign	0.00
R3723:Pramel28	UTSW	4	143,693,251 (GRCm39)	missense	probably benign
R3952:Pramel28	UTSW	4	143,692,356 (GRCm39)	nonsense	probably null
R4028:Pramel28	UTSW	4	143,692,354 (GRCm39)	missense	probably benign	0.02
R4029:Pramel28	UTSW	4	143,692,354 (GRCm39)	missense	probably benign	0.02
R4030:Pramel28	UTSW	4	143,692,354 (GRCm39)	missense	probably benign	0.02
R5059:Pramel28	UTSW	4	143,691,565 (GRCm39)	missense	probably damaging	0.99
R5222:Pramel28	UTSW	4	143,691,362 (GRCm39)	missense	possibly damaging	0.55
R5591:Pramel28	UTSW	4	143,691,530 (GRCm39)	missense	probably damaging	1.00
R5677:Pramel28	UTSW	4	143,691,708 (GRCm39)	missense	possibly damaging	0.59
R6021:Pramel28	UTSW	4	143,692,336 (GRCm39)	missense	probably benign
R6042:Pramel28	UTSW	4	143,692,631 (GRCm39)	missense	probably benign	0.04
R6155:Pramel28	UTSW	4	143,691,712 (GRCm39)	missense	probably benign	0.00
R6604:Pramel28	UTSW	4	143,692,567 (GRCm39)	missense	probably benign	0.02
R6807:Pramel28	UTSW	4	143,691,581 (GRCm39)	missense	probably damaging	1.00
R7244:Pramel28	UTSW	4	143,692,455 (GRCm39)	missense	probably benign
R7505:Pramel28	UTSW	4	143,691,556 (GRCm39)	missense	probably benign	0.00
R7526:Pramel28	UTSW	4	143,692,387 (GRCm39)	missense	probably benign	0.00
R8121:Pramel28	UTSW	4	143,691,611 (GRCm39)	missense	probably benign	0.01
R8408:Pramel28	UTSW	4	143,692,212 (GRCm39)	missense	probably benign
R8890:Pramel28	UTSW	4	143,691,494 (GRCm39)	missense	probably benign	0.10
R8989:Pramel28	UTSW	4	143,691,770 (GRCm39)	missense	probably benign	0.04
R9054:Pramel28	UTSW	4	143,692,314 (GRCm39)	missense	probably benign	0.18
R9622:Pramel28	UTSW	4	143,692,348 (GRCm39)	missense	probably benign	0.00
Z1088:Pramel28	UTSW	4	143,692,132 (GRCm39)	missense	probably benign
Z1177:Pramel28	UTSW	4	143,692,345 (GRCm39)	missense	probably benign	0.02
Z1177:Pramel28	UTSW	4	143,692,161 (GRCm39)	missense	probably benign	0.42

Posted On

2015-04-16