Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03058:Lamp5'

409327

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lamp5

Ensembl Gene

ENSMUSG00000027270

Gene Name

lysosomal-associated membrane protein family, member 5

Synonyms

6330527O06Rik, BAD-LAMP, 3110035N03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03058

Quality Score

Status

Chromosome

Chromosomal Location

135894159-135911837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135911047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 260 (H260L)

Ref Sequence

ENSEMBL: ENSMUSP00000061180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057503]

AlphaFold

Q9D387

Predicted Effect

probably benign
Transcript: ENSMUST00000057503
AA Change: H260L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000061180
Gene: ENSMUSG00000027270
AA Change: H260L

Domain	Start	End	E-Value	Type
Pfam:Lamp	26	268	8.3e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123436

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,109,112 (GRCm39)	V395A	probably benign	Het
Adck1	A	T	12: 88,425,900 (GRCm39)	T443S	probably benign	Het
Axdnd1	G	A	1: 156,204,233 (GRCm39)	A541V	probably benign	Het
B020011L13Rik	A	G	1: 117,710,699 (GRCm39)	D35G	possibly damaging	Het
Bmp3	T	G	5: 99,019,953 (GRCm39)	I125M	probably damaging	Het
Cdc40	T	C	10: 40,725,824 (GRCm39)	E215G	probably benign	Het
Ces1f	A	G	8: 93,996,600 (GRCm39)		probably null	Het
Chd8	A	C	14: 52,455,730 (GRCm39)	V986G	probably damaging	Het
Clca4a	A	T	3: 144,667,595 (GRCm39)		probably benign	Het
Crhbp	T	A	13: 95,580,306 (GRCm39)	E91V	probably damaging	Het
Dgkh	T	A	14: 78,865,237 (GRCm39)	H53L	probably benign	Het
Dnajc1	T	C	2: 18,222,132 (GRCm39)	D532G	possibly damaging	Het
Dot1l	T	C	10: 80,626,831 (GRCm39)	S230P	probably benign	Het
Evi5	C	T	5: 107,896,017 (GRCm39)	V809M	probably damaging	Het
Fbn1	T	A	2: 125,245,120 (GRCm39)	M256L	probably benign	Het
Fem1al	T	C	11: 29,774,656 (GRCm39)	D267G	probably benign	Het
Fgfr2	C	T	7: 129,784,422 (GRCm39)	D292N	probably damaging	Het
Fmn1	C	T	2: 113,272,159 (GRCm39)		probably benign	Het
Htatsf1	T	A	X: 56,104,281 (GRCm39)	D203E	probably damaging	Het
Kcnh1	T	A	1: 192,117,199 (GRCm39)	L51Q	probably damaging	Het
Mindy4	T	A	6: 55,285,183 (GRCm39)	V659D	probably damaging	Het
Mkks	C	A	2: 136,718,090 (GRCm39)	L397F	probably damaging	Het
Ncan	G	A	8: 70,560,582 (GRCm39)	S795F	possibly damaging	Het
Or13c7d	A	C	4: 43,770,255 (GRCm39)	F252C	probably damaging	Het
Or9g4	T	C	2: 85,505,025 (GRCm39)	I157V	probably benign	Het
Papolg	T	C	11: 23,845,029 (GRCm39)	M4V	probably benign	Het
Pdk3	A	T	X: 92,845,892 (GRCm39)	I143N	probably benign	Het
Polr2a	A	T	11: 69,635,873 (GRCm39)		probably null	Het
Prc1	C	T	7: 79,950,873 (GRCm39)	T78I	probably benign	Het
Ret	C	A	6: 118,152,028 (GRCm39)	D569Y	probably damaging	Het
Samd9l	G	T	6: 3,374,980 (GRCm39)	N760K	probably damaging	Het
Slc5a12	T	A	2: 110,471,137 (GRCm39)	S460T	probably benign	Het
Slco1c1	A	G	6: 141,508,913 (GRCm39)	I573M	probably benign	Het
Spata31f1e	G	A	4: 42,793,764 (GRCm39)	L123F	probably damaging	Het
Steap4	A	G	5: 8,025,664 (GRCm39)	D75G	probably benign	Het
Tcf20	A	G	15: 82,736,205 (GRCm39)	F1749L	probably damaging	Het
Thbs2	T	C	17: 14,910,231 (GRCm39)	T123A	possibly damaging	Het
Tmc3	T	C	7: 83,265,094 (GRCm39)	S663P	possibly damaging	Het
Vmn2r121	G	T	X: 123,042,618 (GRCm39)	H180N	probably benign	Het
Vnn1	T	C	10: 23,780,442 (GRCm39)	F477L	probably benign	Het
Xpnpep2	A	G	X: 47,214,302 (GRCm39)		probably null	Het
Zfand4	T	C	6: 116,265,038 (GRCm39)	F168L	probably benign	Het

Other mutations in Lamp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Lamp5	APN	2	135,910,990 (GRCm39)	missense	probably damaging	1.00
IGL02145:Lamp5	APN	2	135,901,509 (GRCm39)	missense	possibly damaging	0.74
R0392:Lamp5	UTSW	2	135,902,817 (GRCm39)	missense	probably damaging	1.00
R0734:Lamp5	UTSW	2	135,900,950 (GRCm39)	missense	probably damaging	1.00
R1488:Lamp5	UTSW	2	135,911,011 (GRCm39)	missense	probably benign	0.03
R2862:Lamp5	UTSW	2	135,900,866 (GRCm39)	missense	probably benign	0.37
R3954:Lamp5	UTSW	2	135,902,928 (GRCm39)	missense	probably damaging	1.00
R4467:Lamp5	UTSW	2	135,900,940 (GRCm39)	missense	probably damaging	1.00
R4686:Lamp5	UTSW	2	135,900,923 (GRCm39)	missense	probably damaging	1.00
R4745:Lamp5	UTSW	2	135,902,786 (GRCm39)	missense	probably benign	0.09
R6394:Lamp5	UTSW	2	135,902,929 (GRCm39)	missense	possibly damaging	0.61
R6701:Lamp5	UTSW	2	135,901,483 (GRCm39)	missense	possibly damaging	0.51
R6702:Lamp5	UTSW	2	135,901,483 (GRCm39)	missense	possibly damaging	0.51
R6703:Lamp5	UTSW	2	135,901,483 (GRCm39)	missense	possibly damaging	0.51
R6736:Lamp5	UTSW	2	135,901,483 (GRCm39)	missense	possibly damaging	0.51
R7237:Lamp5	UTSW	2	135,901,755 (GRCm39)	missense	probably benign	0.29
R7347:Lamp5	UTSW	2	135,902,878 (GRCm39)	missense	probably benign	0.10
R8895:Lamp5	UTSW	2	135,902,874 (GRCm39)	missense	probably benign	0.00
R9051:Lamp5	UTSW	2	135,911,054 (GRCm39)	missense	probably benign	0.15
R9205:Lamp5	UTSW	2	135,901,521 (GRCm39)	missense	probably damaging	1.00
R9786:Lamp5	UTSW	2	135,910,998 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02