Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00471:Pramel7'

7128

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 #

IGL00471

Quality Score

Status

Chromosome

Chromosomal Location

87489087-87497093 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87491085 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 202 (L202Q)

Ref Sequence

ENSEMBL: ENSMUSP00000026957 (fasta)

Gene Model

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

AlphaFold

Q810Y8

Predicted Effect

probably damaging
Transcript: ENSMUST00000026957
AA Change: L202Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000026957
Gene: ENSMUSG00000025839
AA Change: L202Q

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,509,542	V2793A	probably damaging	Het
Agbl2	A	G	2: 90,801,045	Y249C	probably damaging	Het
Anks1	T	C	17: 28,058,416	S1082P	possibly damaging	Het
Barhl2	C	T	5: 106,455,499	A265T	possibly damaging	Het
C4b	T	G	17: 34,734,429	T1027P	probably damaging	Het
Clec4d	A	T	6: 123,274,773	I205F	probably damaging	Het
Cpeb2	A	T	5: 43,285,831	Y955F	probably damaging	Het
Cst13	T	A	2: 148,830,304	M133K	probably damaging	Het
Dnah10	T	C	5: 124,794,341	L2418P	probably damaging	Het
Gli3	T	C	13: 15,723,769		probably null	Het
Hgfac	C	A	5: 35,046,526	H463N	probably damaging	Het
Hlx	A	T	1: 184,731,595	F183I	probably damaging	Het
Ighv1-5	T	G	12: 114,513,473	I70L	probably benign	Het
Ltbp2	T	C	12: 84,791,064	T1181A	probably damaging	Het
Morn1	A	C	4: 155,092,328	K140Q	possibly damaging	Het
Nek1	A	T	8: 61,043,284	M358L	probably benign	Het
Pcbd2	C	T	13: 55,776,600		probably benign	Het
Shq1	A	G	6: 100,664,483	S146P	probably benign	Het
Slc25a21	T	C	12: 56,718,137		probably null	Het
Slc26a7	A	T	4: 14,548,403		probably benign	Het
Sspo	G	A	6: 48,498,213		probably benign	Het
Stam2	T	C	2: 52,720,935	D25G	probably damaging	Het
Tbx18	A	T	9: 87,705,623	D480E	possibly damaging	Het
Tmem26	A	T	10: 68,778,681	I309F	possibly damaging	Het
Ube2c	A	G	2: 164,771,293	T44A	probably benign	Het

Other mutations in Pramel7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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
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

2012-04-20