Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01728:Pramel7'

105351

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel7

Ensembl Gene

ENSMUSG00000025839

Gene Name

preferentially expressed antigen in melanoma like 7

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL01728

Quality Score

Status

Chromosome

Chromosomal Location

87489087-87497093 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87491330 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 120 (E120D)

Ref Sequence

ENSEMBL: ENSMUSP00000026957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026957]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026957
AA Change: E120D

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026957
Gene: ENSMUSG00000025839
AA Change: E120D

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	207	407	3e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148030

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	G	1: 53,182,509	S54P	probably benign	Het
Adamtsl1	T	C	4: 86,110,837	I71T	probably damaging	Het
Agbl3	T	C	6: 34,782,157	M1T	probably null	Het
Ankib1	A	G	5: 3,701,992		probably benign	Het
Brinp3	T	G	1: 146,831,551		probably null	Het
Chuk	T	C	19: 44,098,646	N138S	possibly damaging	Het
Dock7	G	A	4: 98,962,331	T1588M	probably damaging	Het
Ehbp1	G	A	11: 22,101,115	T479I	probably damaging	Het
Gpn2	T	C	4: 133,584,502	I15T	possibly damaging	Het
Haao	A	G	17: 83,835,229	F149S	probably damaging	Het
Hist1h3b	G	A	13: 23,752,729	R117H	probably benign	Het
Iqsec3	T	A	6: 121,412,664		probably benign	Het
Lrrc39	G	T	3: 116,579,500		probably benign	Het
Ltbp2	C	A	12: 84,791,009	S1199I	probably damaging	Het
Mageb3	G	T	2: 121,954,460	P254T	probably damaging	Het
Mapkbp1	C	T	2: 120,023,821	P1300S	probably damaging	Het
Mtfmt	T	A	9: 65,435,818	L2H	probably damaging	Het
Myo18a	G	T	11: 77,777,856	G181W	probably damaging	Het
Mzf1	T	C	7: 13,051,727		probably benign	Het
Nfatc2	A	T	2: 168,536,242	L280Q	probably damaging	Het
Nudt15	A	G	14: 73,523,296		probably null	Het
Olfr633	T	C	7: 103,946,752	F62S	probably damaging	Het
Olfr920	A	G	9: 38,756,095	M136V	possibly damaging	Het
Parp14	A	G	16: 35,857,435	V721A	probably damaging	Het
Pbp2	G	T	6: 135,310,075	N91K	probably damaging	Het
Pde7b	C	A	10: 20,434,464		probably null	Het
Rbbp5	C	T	1: 132,498,080	T516M	probably benign	Het
Slc16a12	A	G	19: 34,690,671	V28A	possibly damaging	Het
Slc6a9	T	C	4: 117,864,605	F276S	probably damaging	Het
Spata9	A	T	13: 75,993,074	I147L	probably benign	Het
Tenm4	A	T	7: 96,896,064	Y2429F	probably damaging	Het
Tmtc1	A	G	6: 148,411,066	S212P	probably benign	Het
Unc5cl	A	T	17: 48,459,963	I122F	probably damaging	Het
Unc79	T	A	12: 103,165,684	F2350I	probably damaging	Het

Other mutations in Pramel7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Pramel7	APN	2	87491085	missense	probably damaging	1.00
IGL01302:Pramel7	APN	2	87491373	missense	possibly damaging	0.58
IGL01365:Pramel7	APN	2	87491413	splice site	probably benign
IGL01769:Pramel7	APN	2	87489588	missense	probably benign	0.09
IGL01932:Pramel7	APN	2	87491113	missense	possibly damaging	0.80
IGL02971:Pramel7	APN	2	87490073	missense	probably benign	0.03
IGL03376:Pramel7	APN	2	87489603	missense	probably damaging	1.00
IGL03380:Pramel7	APN	2	87491372	missense	probably benign	0.38
R0625:Pramel7	UTSW	2	87491008	missense	probably benign	0.02
R1077:Pramel7	UTSW	2	87491190	missense	probably damaging	1.00
R1455:Pramel7	UTSW	2	87489723	missense	probably benign	0.00
R1666:Pramel7	UTSW	2	87492403	missense	probably damaging	0.99
R1863:Pramel7	UTSW	2	87491331	missense	probably benign	0.35
R1977:Pramel7	UTSW	2	87491121	missense	probably benign	0.01
R2141:Pramel7	UTSW	2	87489977	missense	probably damaging	1.00
R3027:Pramel7	UTSW	2	87491403	missense	probably benign	0.01
R4374:Pramel7	UTSW	2	87490071	missense	probably benign	0.05
R4735:Pramel7	UTSW	2	87490843	nonsense	probably null
R5232:Pramel7	UTSW	2	87489976	missense	probably damaging	0.97
R6255:Pramel7	UTSW	2	87489663	missense	probably benign	0.00
R6611:Pramel7	UTSW	2	87490049	missense	probably damaging	1.00
R6898:Pramel7	UTSW	2	87489726	missense	probably damaging	0.98
R7246:Pramel7	UTSW	2	87492165	missense	probably damaging	1.00
R7293:Pramel7	UTSW	2	87492362	missense	probably benign	0.28
R7408:Pramel7	UTSW	2	87490845	missense	possibly damaging	0.89
R7431:Pramel7	UTSW	2	87489938	missense	possibly damaging	0.65
R7469:Pramel7	UTSW	2	87491404	missense	probably benign	0.01
R8300:Pramel7	UTSW	2	87489623	missense	probably benign	0.01

Posted On

2014-01-21