Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02983:Pramef20'

406643

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramef20

Ensembl Gene

ENSMUSG00000073721

Gene Name

PRAME family member 20

Synonyms

Gm13125, EG627009

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02983

Quality Score

Status

Chromosome

Chromosomal Location

144372760-144377933 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144373127 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 356 (E356G)

Ref Sequence

ENSEMBL: ENSMUSP00000112488 (fasta)

Gene Model

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

AlphaFold

B1ARV6

Predicted Effect

probably benign
Transcript: ENSMUST00000121109
AA Change: E356G

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112488
Gene: ENSMUSG00000073721
AA Change: E356G

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	A	G	19: 5,503,181	F191L	possibly damaging	Het
Abca13	A	G	11: 9,290,663	N842S	probably benign	Het
Acvr1b	A	G	15: 101,203,078	R374G	probably damaging	Het
Brip1	T	C	11: 86,139,124	I565V	probably benign	Het
Camta2	C	T	11: 70,672,022	R959Q	probably damaging	Het
Cbln2	A	G	18: 86,713,379	E104G	probably benign	Het
Cdc42ep4	T	C	11: 113,729,169	K132R	probably benign	Het
Clcnka	T	A	4: 141,390,131	I452F	probably damaging	Het
Clec4a3	T	A	6: 122,967,567		probably null	Het
Crat	A	C	2: 30,404,526		probably null	Het
Cspp1	A	G	1: 10,127,525	K227R	probably benign	Het
Ddx1	A	T	12: 13,223,862	I588N	probably damaging	Het
Dip2b	G	T	15: 100,132,022	R98L	possibly damaging	Het
Dock5	G	A	14: 67,764,670	P1617L	probably damaging	Het
Fa2h	C	T	8: 111,346,522		probably null	Het
Fezf1	T	A	6: 23,247,872	N68I	probably damaging	Het
Gabrb2	A	T	11: 42,421,400	L17F	probably benign	Het
Gm17078	T	C	14: 51,611,190	K30R	probably benign	Het
Gramd4	G	A	15: 86,127,018	V249M	probably damaging	Het
Kcnd2	A	C	6: 21,216,555	D86A	probably damaging	Het
Lrp1	T	C	10: 127,550,199	E3486G	probably damaging	Het
Ltb	A	G	17: 35,194,670	D50G	probably benign	Het
Med18	A	T	4: 132,459,686	Y167*	probably null	Het
Nat14	G	A	7: 4,924,128	A100T	probably damaging	Het
Nxph2	T	C	2: 23,400,362	V242A	probably damaging	Het
Olfr338	T	A	2: 36,377,637	I287N	probably damaging	Het
Olfr443-ps1	T	C	6: 43,094,648		noncoding transcript	Het
Olfr54	T	C	11: 51,027,380	V126A	probably damaging	Het
Olfr818	T	A	10: 129,945,189	N291I	probably damaging	Het
Rad21l	A	G	2: 151,655,120	L358S	probably damaging	Het
Rasgef1c	A	G	11: 49,957,049	T4A	possibly damaging	Het
Spata31d1a	A	G	13: 59,703,694	S207P	possibly damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Szt2	T	C	4: 118,365,779		probably benign	Het
Taf6	T	C	5: 138,178,880	T642A	probably benign	Het
Tmem30a	A	T	9: 79,771,443	M277K	possibly damaging	Het
Vmn1r86	T	C	7: 13,102,814	D45G	probably damaging	Het
Xkr5	T	C	8: 18,933,832	I565V	probably benign	Het
Zfp526	C	T	7: 25,224,415	A33V	probably benign	Het

Other mutations in Pramef20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01403:Pramef20	APN	4	144377133	missense	probably benign	0.01
IGL01516:Pramef20	APN	4	144377767	missense	probably damaging	1.00
IGL02655:Pramef20	APN	4	144372846	missense	probably benign	0.05
R0201:Pramef20	UTSW	4	144377273	splice site	probably benign
R1882:Pramef20	UTSW	4	144376915	missense	probably benign	0.03
R4440:Pramef20	UTSW	4	144372867	missense	probably benign
R4805:Pramef20	UTSW	4	144377020	missense	probably benign	0.08
R4823:Pramef20	UTSW	4	144373211	missense	possibly damaging	0.81
R4925:Pramef20	UTSW	4	144377932	start codon destroyed	probably null	1.00
R5024:Pramef20	UTSW	4	144373308	nonsense	probably null
R5472:Pramef20	UTSW	4	144377157	missense	probably benign	0.00
R6133:Pramef20	UTSW	4	144377777	missense	possibly damaging	0.81
R6495:Pramef20	UTSW	4	144376839	missense	probably benign	0.43
R6585:Pramef20	UTSW	4	144377030	missense	possibly damaging	0.87
R6732:Pramef20	UTSW	4	144373173	missense	probably benign	0.20
R7048:Pramef20	UTSW	4	144377184	missense	probably benign	0.15
R7165:Pramef20	UTSW	4	144372819	missense	probably damaging	0.97
R7469:Pramef20	UTSW	4	144373103	missense	probably damaging	1.00
R8873:Pramef20	UTSW	4	144373301	missense	probably benign	0.43
R8891:Pramef20	UTSW	4	144372827	missense	probably damaging	0.99
R8909:Pramef20	UTSW	4	144376983	missense	probably benign	0.06

Posted On

2016-08-02