Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01403:Pramef20'

79725

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01403

Quality Score

Status

Chromosome

Chromosomal Location

144372760-144377933 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144377133 bp (GRCm38)

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
4930430A15Rik	T	C	2: 111,229,170		probably benign	Het
Abcb5	A	T	12: 118,872,867	L1103Q	probably damaging	Het
Adam12	T	A	7: 133,919,610	Q605L	probably benign	Het
Adk	A	G	14: 21,234,915	K102R	probably damaging	Het
Afdn	C	T	17: 13,903,870	P1761S	probably damaging	Het
Ascc1	A	G	10: 60,012,458		probably benign	Het
Aspdh	A	G	7: 44,466,559		probably null	Het
Bbx	T	C	16: 50,202,513	I753V	probably benign	Het
Ccdc33	T	C	9: 58,117,385	Y186C	probably damaging	Het
Ccdc78	T	A	17: 25,788,244		probably null	Het
Ckmt1	T	C	2: 121,362,966		probably benign	Het
Csf1r	A	G	18: 61,114,825	T322A	probably benign	Het
Dnah7b	T	C	1: 46,116,300		probably benign	Het
Dr1	A	G	5: 108,269,710	N41D	possibly damaging	Het
Ehmt1	G	A	2: 24,839,626	T633I	possibly damaging	Het
Fgf7	T	A	2: 126,035,940	Y76N	probably damaging	Het
Hmcn1	A	T	1: 150,593,097	W5038R	probably damaging	Het
Ighv14-1	A	G	12: 113,932,242	V21A	probably damaging	Het
Igkv5-37	T	A	6: 69,963,436	I75F	probably damaging	Het
Inhbc	T	A	10: 127,370,099	I100F	probably damaging	Het
Irs3	A	G	5: 137,645,319	F68L	probably damaging	Het
Itpr3	T	A	17: 27,118,595	C2460S	probably damaging	Het
Krt34	A	G	11: 100,038,290	C365R	possibly damaging	Het
Krt81	G	A	15: 101,463,388	H104Y	probably benign	Het
Ly6g	A	G	15: 75,158,648	N82S	probably damaging	Het
Mrpl58	A	T	11: 115,406,578	I72F	probably damaging	Het
Myo9a	G	A	9: 59,871,563	R1534H	probably damaging	Het
Npat	T	A	9: 53,555,129	F239L	probably benign	Het
Nsd2	A	G	5: 33,885,378		probably benign	Het
Nuggc	T	C	14: 65,623,186	V427A	probably benign	Het
Olfr476	A	G	7: 107,967,621	T75A	possibly damaging	Het
Olfr690	G	A	7: 105,329,398	R265C	probably benign	Het
Pde4a	A	T	9: 21,205,116	I467F	probably damaging	Het
Pkhd1l1	T	A	15: 44,483,833	C198*	probably null	Het
Pla2r1	A	G	2: 60,424,288	V1312A	probably damaging	Het
Pola2	T	C	19: 5,959,093	H79R	probably benign	Het
Psen2	A	T	1: 180,234,983		probably benign	Het
Rnf213	A	G	11: 119,443,300	K3112E	probably damaging	Het
Slc6a4	G	T	11: 77,031,672	V630L	probably benign	Het
Smg1	A	T	7: 118,158,132		probably benign	Het
Tmc8	A	G	11: 117,791,074	T510A	possibly damaging	Het
Usp18	T	A	6: 121,268,668	H334Q	possibly damaging	Het
Vmn2r103	T	C	17: 19,792,967	Y117H	probably benign	Het
Vps13b	T	A	15: 35,709,479	D1857E	probably benign	Het

Other mutations in Pramef20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01516:Pramef20	APN	4	144377767	missense	probably damaging	1.00
IGL02655:Pramef20	APN	4	144372846	missense	probably benign	0.05
IGL02983:Pramef20	APN	4	144373127	missense	probably benign	0.24
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
R9597:Pramef20	UTSW	4	144376956	missense	probably damaging	1.00

Posted On

2013-11-05