Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01769:Pramel7'

153806

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: 0.061) question?

Stock #

IGL01769

Quality Score

Status

Chromosome

Chromosomal Location

87489087-87497093 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87489588 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 454 (S454P)

Ref Sequence

ENSEMBL: ENSMUSP00000026957 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000026957
AA Change: S454P

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000026957
Gene: ENSMUSG00000025839
AA Change: S454P

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 131,357,486	M162L	probably benign	Het
Aldh1a1	A	T	19: 20,642,919	T487S	probably benign	Het
Bahcc1	T	C	11: 120,280,204		probably benign	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Cldn10	G	A	14: 118,873,717		probably benign	Het
Cntn3	G	A	6: 102,208,184	T657I	probably damaging	Het
Crb1	A	T	1: 139,337,068	I204K	probably damaging	Het
Crim1	C	A	17: 78,313,235	T368K	probably benign	Het
Csad	C	A	15: 102,180,081	V237L	probably benign	Het
Cyp39a1	T	G	17: 43,749,915	H451Q	possibly damaging	Het
Dclk2	T	C	3: 86,816,360	E376G	possibly damaging	Het
Dnah10	A	T	5: 124,764,944	Y1331F	possibly damaging	Het
Dnajc11	A	T	4: 151,979,302	I452L	probably damaging	Het
Dpf2	T	C	19: 5,912,782		probably benign	Het
Elovl2	A	C	13: 41,186,944	V225G	probably damaging	Het
Fancd2	T	A	6: 113,545,111	H222Q	possibly damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Flt4	C	T	11: 49,635,171		probably benign	Het
Foxp2	T	C	6: 15,409,835	V478A	possibly damaging	Het
H2-Q1	G	A	17: 35,323,529	V317M	probably benign	Het
Igkv3-5	G	A	6: 70,663,352		probably benign	Het
Isg20	G	A	7: 78,914,381	C12Y	probably damaging	Het
Itgb4	G	A	11: 115,988,926	V635I	probably damaging	Het
Nat8f5	G	A	6: 85,817,877	R34C	probably benign	Het
Olfr924	T	C	9: 38,848,333	V73A	probably benign	Het
Rarb	T	A	14: 16,443,760	E176V	probably damaging	Het
Sema4a	T	A	3: 88,449,756	I303F	possibly damaging	Het
Slc25a24	G	A	3: 109,149,500	E110K	probably damaging	Het
Slc7a13	A	T	4: 19,839,527	I377L	probably benign	Het
Smim19	T	C	8: 22,463,377		probably null	Het
Tiam2	A	G	17: 3,427,290	Y596C	probably damaging	Het
Tlr1	A	T	5: 64,925,947	L429*	probably null	Het
Ubxn8	G	A	8: 33,629,378		probably benign	Het
Vmn2r108	C	A	17: 20,471,018	M414I	probably benign	Het
Vmn2r99	A	G	17: 19,380,115	N467S	probably damaging	Het
Zfp456	T	A	13: 67,367,153	T145S	probably benign	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
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

2014-02-04