Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03206:Lrat'

413140

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrat

Ensembl Gene

ENSMUSG00000028003

Gene Name

lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase)

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

IGL03206

Quality Score

Status

Chromosome

Chromosomal Location

82892579-82903973 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82903349 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 122 (I122F)

Ref Sequence

ENSEMBL: ENSMUSP00000029632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029632]

PDB Structure

Crystal structure of HRASLS3/LRAT chimeric protein [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029632
AA Change: I122F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029632
Gene: ENSMUSG00000028003
AA Change: I122F

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:LRAT	43	174	1.4e-44	PFAM
low complexity region	194	205	N/A	INTRINSIC
transmembrane domain	206	228	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149223

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156457

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit retinol homeostasis abnormalities and are more susceptible to vitamin A deficiency or display impaired vision associated with abnormal retinol metabolism. Males have testicular hypoplasia/atrophy and reduced mature sperm counts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,553,276	E939D	possibly damaging	Het
Aloxe3	C	A	11: 69,129,646	A172D	possibly damaging	Het
Bscl2	G	A	19: 8,843,089	R158Q	probably damaging	Het
Cdon	A	G	9: 35,503,306	D1159G	probably benign	Het
Cep164	A	G	9: 45,802,725	V203A	probably benign	Het
Chml	T	C	1: 175,687,737	D206G	probably benign	Het
E2f6	T	C	12: 16,822,089		probably benign	Het
Emilin3	T	A	2: 160,910,799	Y77F	probably damaging	Het
Fbxw15	A	T	9: 109,565,362	N128K	possibly damaging	Het
Gjd2	A	G	2: 114,011,723	L91P	probably damaging	Het
Gm12830	T	A	4: 114,845,117		probably benign	Het
Gpr161	T	A	1: 165,321,649	L529Q	probably damaging	Het
Hoxd10	T	A	2: 74,692,432	Y151*	probably null	Het
Iars	A	G	13: 49,693,070	D215G	possibly damaging	Het
Ift140	T	C	17: 25,092,826	V1241A	probably damaging	Het
Kdm5b	A	G	1: 134,627,317	N1321S	probably benign	Het
Myl10	C	T	5: 136,697,942	Q106*	probably null	Het
Ncapd2	A	T	6: 125,171,697	Y1018N	possibly damaging	Het
Ndrg1	C	T	15: 66,943,087	W172*	probably null	Het
Nphs2	T	C	1: 156,326,131	M264T	probably damaging	Het
Nrxn3	A	T	12: 89,260,508	R677S	possibly damaging	Het
Nudt12	T	C	17: 59,007,672	T306A	probably benign	Het
Numb	A	G	12: 83,825,296		probably benign	Het
Olfr1385	A	T	11: 49,494,709	M59L	probably benign	Het
Olfr482	C	T	7: 108,095,054	C172Y	probably damaging	Het
Olfr63	T	A	17: 33,268,751	I9K	possibly damaging	Het
Pbld2	T	A	10: 63,047,482	D94E	probably benign	Het
Pkd1l3	C	A	8: 109,623,713	Q397K	probably benign	Het
Ppp4r3a	A	T	12: 101,058,619	L207H	probably damaging	Het
Ranbp2	T	A	10: 58,465,547	I674N	probably damaging	Het
Retnlg	G	T	16: 48,874,292	C101F	probably damaging	Het
Rif1	T	A	2: 52,103,622	I849N	probably damaging	Het
Serpinb9d	T	C	13: 33,198,031	I161T	possibly damaging	Het
Slc17a6	T	C	7: 51,666,023		probably benign	Het
Smg8	A	C	11: 87,085,988		probably null	Het
Spata31d1c	C	A	13: 65,035,593	N316K	probably benign	Het
Tlr1	A	G	5: 64,925,057	S726P	probably damaging	Het
Trim69	A	C	2: 122,173,155	D195A	probably benign	Het
Ttc16	T	G	2: 32,771,885		probably null	Het
Usp53	T	A	3: 122,953,183	M405L	probably benign	Het
Ywhag	G	A	5: 135,911,060	R227*	probably null	Het
Zfp335	G	T	2: 164,892,681		probably benign	Het
Zfp607a	T	C	7: 27,877,823	I106T	possibly damaging	Het
Zfp959	T	C	17: 55,897,613	S214P	possibly damaging	Het
Zfyve9	T	C	4: 108,689,209	M868V	possibly damaging	Het

Other mutations in Lrat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1445:Lrat	UTSW	3	82903369	missense	probably damaging	1.00
R1491:Lrat	UTSW	3	82903342	missense	probably benign	0.07
R1735:Lrat	UTSW	3	82897110	missense	probably benign	0.01
R2419:Lrat	UTSW	3	82903685	missense	probably damaging	1.00
R4446:Lrat	UTSW	3	82896986	missense	probably damaging	0.98
R5442:Lrat	UTSW	3	82903220	missense	probably damaging	1.00
R5495:Lrat	UTSW	3	82896982	missense	probably benign	0.00
R6255:Lrat	UTSW	3	82903505	missense	probably damaging	1.00
R6468:Lrat	UTSW	3	82903492	missense	probably damaging	1.00
R6909:Lrat	UTSW	3	82903654	missense	probably damaging	1.00
R7041:Lrat	UTSW	3	82903448	missense	probably benign	0.03
R7396:Lrat	UTSW	3	82903283	nonsense	probably null
Z1177:Lrat	UTSW	3	82903490	missense	probably damaging	1.00

Posted On

2016-08-02