Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01932:Pramel7'

180453

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: 0.106) question?

Stock #

IGL01932

Quality Score

Status

Chromosome

Chromosomal Location

87489087-87497093 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87491113 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 193 (S193T)

Ref Sequence

ENSEMBL: ENSMUSP00000026957 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026957
AA Change: S193T

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026957
Gene: ENSMUSG00000025839
AA Change: S193T

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,304,125	N73S	probably benign	Het
Adcy1	T	A	11: 7,100,565		probably benign	Het
Adipor2	G	A	6: 119,361,864	H143Y	probably damaging	Het
Ankar	A	G	1: 72,698,987	I12T	probably benign	Het
Ankdd1a	C	T	9: 65,507,611		probably benign	Het
Cadps	A	G	14: 12,373,609		probably benign	Het
Cdh22	G	A	2: 165,170,808	T119M	probably benign	Het
Col6a6	T	A	9: 105,689,626	K2223N	probably benign	Het
Dnah11	G	A	12: 118,192,270		probably benign	Het
Ezh2	T	C	6: 47,532,048	T674A	probably damaging	Het
Ffar4	A	G	19: 38,097,530	E135G	probably damaging	Het
Fsip2	G	A	2: 82,994,005	R6694Q	possibly damaging	Het
Gm10717	A	T	9: 3,026,287	Y195F	probably damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Gm4222	A	G	2: 90,148,457		probably benign	Het
Hipk3	T	A	2: 104,470,981	N289Y	probably damaging	Het
Kndc1	T	C	7: 139,923,790	L1003P	probably damaging	Het
Mdk	T	C	2: 91,931,116	N72S	probably damaging	Het
Olfr520	T	A	7: 99,735,500	I119N	probably damaging	Het
Olfr666	T	A	7: 104,893,218	I137F	probably damaging	Het
Pafah1b3	A	T	7: 25,297,091	C56S	probably benign	Het
Pdzrn4	A	G	15: 92,746,278	I189V	probably damaging	Het
Plekhh2	A	G	17: 84,577,261	N801S	probably benign	Het
Prkag1	A	G	15: 98,814,531	I171T	probably damaging	Het
Rap1b	A	T	10: 117,822,860	F23I	probably damaging	Het
Scamp2	A	G	9: 57,561,116		probably benign	Het
Ttn	A	T	2: 76,884,474		probably benign	Het
Vmn2r17	A	T	5: 109,427,050	R74S	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Wif1	G	T	10: 121,096,035	C288F	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
IGL01728:Pramel7	APN	2	87491330	missense	possibly damaging	0.95
IGL01769:Pramel7	APN	2	87489588	missense	probably benign	0.09
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

2014-05-07