Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01860:Pramel46'

178275

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel46

Ensembl Gene

ENSMUSG00000096066

Gene Name

PRAME like 46

Synonyms

Gm10424

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01860

Quality Score

Status

Chromosome

Chromosomal Location

95416588-95420614 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95418510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 162 (T162I)

Ref Sequence

ENSEMBL: ENSMUSP00000136878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000180232] [ENSMUST00000201031]

AlphaFold

A0A0J9YVD0

Predicted Effect

probably benign
Transcript: ENSMUST00000180232
AA Change: T162I

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000136878
Gene: ENSMUSG00000096066
AA Change: T162I

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	210	401	2e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201031
AA Change: T162I

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000144603
Gene: ENSMUSG00000096066
AA Change: T162I

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	210	401	7e-14	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,853,914 (GRCm39)	N248Y	possibly damaging	Het
Adamts13	G	A	2: 26,868,023 (GRCm39)	V128M	probably damaging	Het
Agl	A	T	3: 116,566,175 (GRCm39)		probably benign	Het
Arfgef1	A	T	1: 10,224,621 (GRCm39)	M1405K	probably damaging	Het
Atp6v1a	G	T	16: 43,920,319 (GRCm39)	L426M	probably damaging	Het
Calhm6	A	G	10: 34,002,561 (GRCm39)	V174A	probably damaging	Het
Cdc123	A	G	2: 5,808,752 (GRCm39)		probably benign	Het
Cept1	A	G	3: 106,438,444 (GRCm39)		probably benign	Het
Cipc	T	A	12: 87,007,047 (GRCm39)	D60E	probably damaging	Het
Efcab3	T	C	11: 104,581,747 (GRCm39)	S30P	probably benign	Het
Exosc3	A	G	4: 45,319,659 (GRCm39)	I121T	probably benign	Het
Fbln5	A	G	12: 101,776,128 (GRCm39)	Y89H	probably damaging	Het
Fhod3	T	C	18: 25,030,738 (GRCm39)	F128L	probably damaging	Het
Fhod3	T	A	18: 25,037,005 (GRCm39)	I154N	probably damaging	Het
Fpgt	T	C	3: 154,792,483 (GRCm39)	T515A	probably benign	Het
Gas2l2	G	A	11: 83,312,906 (GRCm39)	T802I	probably benign	Het
Gm10710	T	A	3: 83,035,156 (GRCm39)		probably benign	Het
Hdac4	A	G	1: 91,861,417 (GRCm39)	M1051T	probably benign	Het
Heatr5b	A	G	17: 79,115,909 (GRCm39)	V849A	probably damaging	Het
Helb	T	C	10: 119,938,738 (GRCm39)	I579V	probably damaging	Het
Hspa1l	A	G	17: 35,197,787 (GRCm39)	I609V	probably benign	Het
Itgam	C	A	7: 127,670,115 (GRCm39)	Q136K	probably benign	Het
Kcnc1	T	C	7: 46,077,554 (GRCm39)	L452P	probably damaging	Het
Ltbp4	T	A	7: 27,019,071 (GRCm39)	T1083S	probably damaging	Het
Mki67	T	C	7: 135,300,686 (GRCm39)	I1449M	probably damaging	Het
Nalf1	A	T	8: 9,257,831 (GRCm39)	V439E	probably damaging	Het
P2rx5	T	A	11: 73,056,385 (GRCm39)	V103E	probably damaging	Het
Pals1	T	C	12: 78,877,681 (GRCm39)	V531A	possibly damaging	Het
Pappa	A	G	4: 65,123,329 (GRCm39)	D888G	possibly damaging	Het
Pcdhb21	G	T	18: 37,647,958 (GRCm39)	M362I	probably benign	Het
Pde1a	A	G	2: 79,705,628 (GRCm39)	S333P	probably damaging	Het
Ppm1j	A	G	3: 104,691,408 (GRCm39)	T299A	probably damaging	Het
Ptdss2	A	G	7: 140,732,749 (GRCm39)	E168G	probably damaging	Het
Rspry1	A	G	8: 95,376,444 (GRCm39)	N322S	probably benign	Het
Slc7a9	T	A	7: 35,156,485 (GRCm39)	V309E	probably damaging	Het
Slco6c1	A	G	1: 97,003,548 (GRCm39)		probably benign	Het
Tas2r120	T	A	6: 132,634,227 (GRCm39)	M103K	probably damaging	Het
Tbxas1	T	A	6: 38,925,561 (GRCm39)	F59I	probably damaging	Het
Tfpi	A	G	2: 84,274,378 (GRCm39)	S203P	probably benign	Het
Tram2	T	C	1: 21,074,083 (GRCm39)	N285S	possibly damaging	Het
Trio	T	A	15: 27,846,896 (GRCm39)	D980V	probably damaging	Het
Trpv5	T	A	6: 41,637,229 (GRCm39)	H419L	probably damaging	Het
Usp28	C	T	9: 48,943,543 (GRCm39)	R361*	probably null	Het
Vmn1r6	T	A	6: 56,979,674 (GRCm39)	L112*	probably null	Het
Vmn2r12	A	T	5: 109,240,025 (GRCm39)	N179K	probably benign	Het
Vmn2r82	G	T	10: 79,214,691 (GRCm39)	A225S	probably benign	Het
Zcchc4	A	G	5: 52,965,698 (GRCm39)	Y334C	probably damaging	Het
Zfp609	T	C	9: 65,610,116 (GRCm39)	E949G	possibly damaging	Het

Other mutations in Pramel46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02864:Pramel46	APN	5	95,418,543 (GRCm39)	missense	possibly damaging	0.59
R6493:Pramel46	UTSW	5	95,418,684 (GRCm39)	missense	probably damaging	1.00
R7546:Pramel46	UTSW	5	95,418,171 (GRCm39)	missense	possibly damaging	0.68
R8765:Pramel46	UTSW	5	95,419,447 (GRCm39)	start codon destroyed	probably null	1.00
R9168:Pramel46	UTSW	5	95,418,133 (GRCm39)	missense	probably benign	0.00
R9181:Pramel46	UTSW	5	95,418,414 (GRCm39)	missense	probably benign	0.20

Posted On

2014-05-07