Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02554:Ldah'

298442

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ldah

Ensembl Gene

ENSMUSG00000037669

Gene Name

lipid droplet associated hydrolase

Synonyms

1110057K04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02554

Quality Score

Status

Chromosome

Chromosomal Location

8258107-8335759 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 8333935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 275 (C275*)

Ref Sequence

ENSEMBL: ENSMUSP00000042285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037383] [ENSMUST00000169104] [ENSMUST00000218305] [ENSMUST00000219058]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000037383
AA Change: C275*

SMART Domains

Protein: ENSMUSP00000042285
Gene: ENSMUSG00000037669
AA Change: C275*

Domain	Start	End	E-Value	Type
Pfam:DUF2305	43	304	5.2e-86	PFAM
Pfam:Abhydrolase_5	46	302	1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169104

SMART Domains

Protein: ENSMUSP00000129424
Gene: ENSMUSG00000037669

Domain	Start	End	E-Value	Type
Pfam:DUF2305	43	236	2.2e-59	PFAM
Pfam:Abhydrolase_6	47	209	2.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218305

Predicted Effect

probably benign
Transcript: ENSMUST00000219058

Predicted Effect

probably benign
Transcript: ENSMUST00000219532

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal with no major alterations in energy balance, glucose homeostasis, cholesterol ester or triacylglycerol metabolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	A	11: 48,838,830 (GRCm39)	M586L	probably damaging	Het
Abcg3	T	C	5: 105,117,318 (GRCm39)	D204G	possibly damaging	Het
Acox3	C	A	5: 35,765,710 (GRCm39)	L588I	probably damaging	Het
Adamts9	G	T	6: 92,857,828 (GRCm39)	L849I	probably benign	Het
Alkbh3	T	G	2: 93,826,692 (GRCm39)	T170P	probably damaging	Het
Anks1b	A	T	10: 90,757,240 (GRCm39)	H300L	probably damaging	Het
Arhgap29	T	C	3: 121,786,173 (GRCm39)		probably benign	Het
Brd8dc	A	G	18: 34,726,068 (GRCm39)	S112P	probably benign	Het
Cd86	C	T	16: 36,438,847 (GRCm39)	G181D	probably benign	Het
Cep68	A	T	11: 20,190,096 (GRCm39)	H305Q	possibly damaging	Het
Cimip4	A	G	15: 78,262,736 (GRCm39)	M245T	possibly damaging	Het
Clptm1l	A	T	13: 73,755,879 (GRCm39)	D165V	probably benign	Het
Dctn1	T	C	6: 83,159,704 (GRCm39)	Y61H	probably damaging	Het
Dnah7a	A	T	1: 53,657,205 (GRCm39)	M857K	possibly damaging	Het
Gpr158	A	G	2: 21,831,407 (GRCm39)	M836V	probably benign	Het
Gria1	G	T	11: 57,180,314 (GRCm39)	A755S	possibly damaging	Het
Helb	G	A	10: 119,925,617 (GRCm39)	T920M	probably damaging	Het
Hr	T	C	14: 70,797,306 (GRCm39)		probably benign	Het
Igf2bp1	A	G	11: 95,864,994 (GRCm39)	S152P	probably damaging	Het
Iqsec1	T	C	6: 90,646,327 (GRCm39)	Y784C	probably damaging	Het
Lpin3	T	C	2: 160,738,707 (GRCm39)	S220P	probably damaging	Het
Med23	T	C	10: 24,774,473 (GRCm39)		probably null	Het
Mllt1	T	C	17: 57,206,806 (GRCm39)	D346G	probably benign	Het
Myef2	A	C	2: 124,942,345 (GRCm39)		probably null	Het
Myh2	A	G	11: 67,079,991 (GRCm39)	S1095G	probably benign	Het
Nav1	A	G	1: 135,512,651 (GRCm39)		silent	Het
Or10a3m	A	G	7: 108,312,949 (GRCm39)	M118V	possibly damaging	Het
Piwil2	G	A	14: 70,628,935 (GRCm39)		probably benign	Het
Pkhd1l1	T	A	15: 44,441,896 (GRCm39)	F3612I	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
S100pbp	A	T	4: 129,075,644 (GRCm39)		probably null	Het
Scnn1b	T	C	7: 121,516,746 (GRCm39)	I495T	probably damaging	Het
Sgo2b	A	C	8: 64,379,571 (GRCm39)	V1087G	probably damaging	Het
Sil1	A	T	18: 35,481,786 (GRCm39)	V91E	probably damaging	Het
Slc5a4b	A	G	10: 75,946,685 (GRCm39)	I29T	possibly damaging	Het
Spink5	A	T	18: 44,148,661 (GRCm39)	N908I	probably benign	Het
Svopl	A	C	6: 37,993,978 (GRCm39)	I351S	probably damaging	Het
Syngr3	A	G	17: 24,905,302 (GRCm39)	V198A	probably benign	Het
Tbck	C	A	3: 132,456,953 (GRCm39)	Y622*	probably null	Het
Tkt	T	A	14: 30,280,737 (GRCm39)	M56K	probably damaging	Het
Trip10	T	C	17: 57,570,135 (GRCm39)	V544A	probably damaging	Het
Txndc16	T	C	14: 45,409,995 (GRCm39)	E195G	probably damaging	Het
Vmn2r69	G	A	7: 85,059,014 (GRCm39)	P516S	probably damaging	Het
Vmn2r74	T	C	7: 85,606,581 (GRCm39)	N255S	probably benign	Het
Xpo4	T	C	14: 57,827,545 (GRCm39)	T884A	probably benign	Het
Zdhhc2	A	G	8: 40,915,155 (GRCm39)	N167S	probably damaging	Het

Other mutations in Ldah

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:Ldah	APN	12	8,277,337 (GRCm39)	missense	probably benign	0.04
IGL01532:Ldah	APN	12	8,270,596 (GRCm39)	splice site	probably benign
IGL02866:Ldah	APN	12	8,288,602 (GRCm39)	missense	probably benign	0.01
R0057:Ldah	UTSW	12	8,288,432 (GRCm39)	intron	probably benign
R1334:Ldah	UTSW	12	8,334,089 (GRCm39)	splice site	probably null
R4976:Ldah	UTSW	12	8,277,237 (GRCm39)	missense	probably benign	0.03
R5119:Ldah	UTSW	12	8,277,237 (GRCm39)	missense	probably benign	0.03
R5866:Ldah	UTSW	12	8,270,614 (GRCm39)	missense	possibly damaging	0.74
R6254:Ldah	UTSW	12	8,325,912 (GRCm39)	unclassified	probably benign
R6271:Ldah	UTSW	12	8,318,599 (GRCm39)	critical splice donor site	probably null
R8114:Ldah	UTSW	12	8,334,039 (GRCm39)	missense	probably damaging	1.00
R8460:Ldah	UTSW	12	8,318,548 (GRCm39)	missense	probably benign	0.03
R9788:Ldah	UTSW	12	8,333,946 (GRCm39)	missense	possibly damaging	0.94
R9794:Ldah	UTSW	12	8,318,430 (GRCm39)	missense	possibly damaging	0.50

Posted On

2015-04-16