Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03380:Pramel7'

420647

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

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL03380

Quality Score

Status

Chromosome

Chromosomal Location

87489087-87497093 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87491372 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 106 (D106E)

Ref Sequence

ENSEMBL: ENSMUSP00000026957 (fasta)

Gene Model

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

AlphaFold

Q810Y8

Predicted Effect

probably benign
Transcript: ENSMUST00000026957
AA Change: D106E

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026957
Gene: ENSMUSG00000025839
AA Change: D106E

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,298,574	N2774D	probably benign	Het
Aldh1a2	T	G	9: 71,255,117	Y149*	probably null	Het
Ank2	C	A	3: 126,955,870	E503D	probably damaging	Het
Arhgap23	A	G	11: 97,452,518	D542G	probably damaging	Het
Atp8a1	T	C	5: 67,732,186	E582G	probably benign	Het
C4b	A	T	17: 34,740,286	V438D	probably benign	Het
Caps2	A	G	10: 112,200,696	E345G	probably benign	Het
Cdk19	C	T	10: 40,476,912	P308L	probably benign	Het
Drc3	A	G	11: 60,377,905	E307G	probably benign	Het
Dst	G	A	1: 34,257,800	A1041T	probably damaging	Het
Elp2	T	C	18: 24,622,480	V428A	probably benign	Het
Eml5	G	T	12: 98,874,647		probably benign	Het
Fam120b	G	A	17: 15,403,134		probably benign	Het
Fpr-rs6	G	A	17: 20,182,983	L39F	possibly damaging	Het
Fsd1	T	C	17: 55,995,456	I300T	probably benign	Het
Hsd17b6	T	C	10: 127,994,338		probably null	Het
Hspa1a	T	C	17: 34,970,277	K550R	probably benign	Het
Krba1	A	G	6: 48,403,453	H37R	possibly damaging	Het
Lama2	T	C	10: 27,050,265	D2117G	probably damaging	Het
Map4k2	T	C	19: 6,344,590	F332S	possibly damaging	Het
Mindy1	T	C	3: 95,291,018		probably benign	Het
Nhsl1	T	G	10: 18,523,879	Y284*	probably null	Het
Olfr1463	T	A	19: 13,235,001	F250L	probably benign	Het
Pkhd1	T	A	1: 20,200,670	T3220S	probably damaging	Het
Psme3	T	C	11: 101,320,026		probably null	Het
Rsph1	T	C	17: 31,277,236	E7G	unknown	Het
Slc13a2	T	C	11: 78,399,082	T469A	probably benign	Het
Slc30a9	C	T	5: 67,315,711	T46I	probably benign	Het
Slc37a4	T	G	9: 44,400,023	S204A	probably benign	Het
Slc8b1	T	C	5: 120,519,735	F88L	probably damaging	Het
Smpd3	C	T	8: 106,259,659	V504I	probably benign	Het
Tbx4	A	G	11: 85,914,639	N418S	probably benign	Het
Tmem132c	A	G	5: 127,536,442	T470A	probably benign	Het
Tmem207	A	T	16: 26,526,657	C20S	probably damaging	Het
Usp43	G	A	11: 67,875,316	A761V	possibly damaging	Het
Vmn1r191	C	T	13: 22,178,885	S233N	probably damaging	Het
Vmn2r58	T	A	7: 41,864,450	E256D	probably benign	Het
Zc3hav1	T	C	6: 38,336,558	Y184C	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
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
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
R8803:Pramel7	UTSW	2	87490061	missense	probably benign	0.00
R8940:Pramel7	UTSW	2	87491268	missense	probably benign	0.03
R9281:Pramel7	UTSW	2	87491151	missense	probably damaging	1.00
R9723:Pramel7	UTSW	2	87489675	missense	possibly damaging	0.85

Posted On

2016-08-02