Mutagenetix > Incidental Mutations

Incidental Mutation 'R7789:Lcat'

599745

Institutional Source

Beutler Lab

Gene Symbol

Lcat

Ensembl Gene

ENSMUSG00000035237

Gene Name

lecithin cholesterol acyltransferase

Synonyms

D8Wsu61e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.254) question?

Stock #

R7789 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105939551-105943382 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105942225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 114 (V114M)

Ref Sequence

ENSEMBL: ENSMUSP00000038232 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034369] [ENSMUST00000034370] [ENSMUST00000038896] [ENSMUST00000116429]

AlphaFold

P16301

Predicted Effect

probably benign
Transcript: ENSMUST00000034369

SMART Domains

Protein: ENSMUSP00000034369
Gene: ENSMUSG00000031897

Domain	Start	End	E-Value	Type
Pfam:Proteasome	36	217	3.9e-49	PFAM
Pfam:Pr_beta_C	231	267	3.8e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000034370

SMART Domains

Protein: ENSMUSP00000034370
Gene: ENSMUSG00000017765

Domain	Start	End	E-Value	Type
low complexity region	97	117	N/A	INTRINSIC
Pfam:AA_permease	125	318	5.8e-28	PFAM
Pfam:AA_permease	409	698	1.2e-40	PFAM
Pfam:SLC12	710	833	7.1e-18	PFAM
Pfam:SLC12	829	1087	4.8e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038896
AA Change: V114M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000038232
Gene: ENSMUSG00000035237
AA Change: V114M

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:LCAT	81	414	1.7e-111	PFAM
low complexity region	425	437	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116429

SMART Domains

Protein: ENSMUSP00000112130
Gene: ENSMUSG00000017765

Domain	Start	End	E-Value	Type
low complexity region	95	115	N/A	INTRINSIC
Pfam:AA_permease	123	309	7.7e-29	PFAM
Pfam:AA_permease_2	390	654	2.9e-17	PFAM
Pfam:AA_permease	404	696	4.4e-39	PFAM
Pfam:KCl_Cotrans_1	953	982	9.2e-21	PFAM
low complexity region	1065	1080	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes display severe hypoalphalipoproteinemia, variable hypertriglyceridemia, and accumulation of heterogeneous pre-beta HDL, as well as an attenuated increase in apoB-containing lipoproteins in response to dietary cholesterol. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,864,311	E163K	probably benign	Het
Adam34	T	A	8: 43,652,451	R52S	probably benign	Het
Adcy8	A	T	15: 64,871,774	C328*	probably null	Het
Ankrd26	G	T	6: 118,527,799	S716R	possibly damaging	Het
Ankrd26	G	T	6: 118,527,798	H717N	probably damaging	Het
Ankrd40	C	A	11: 94,334,709	P189T	probably damaging	Het
Anln	A	G	9: 22,352,037	S113P		Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Asxl1	C	T	2: 153,400,023	T832I	probably benign	Het
Bicd2	C	T	13: 49,379,659	R574C	probably damaging	Het
Boll	T	C	1: 55,360,667		probably null	Het
Casr	A	G	16: 36,495,291	F806L	probably damaging	Het
Casz1	C	A	4: 148,929,406	N142K	probably benign	Het
Cbl	C	T	9: 44,163,467	D433N	probably damaging	Het
Ceacam14	T	A	7: 17,814,171	V62D	probably damaging	Het
Chst10	T	C	1: 38,884,451	N18S	probably benign	Het
Cyp2j6	C	T	4: 96,545,716	R119H	probably benign	Het
Cyp4a14	C	G	4: 115,494,910	V102L	probably benign	Het
Dnajb3	A	T	1: 88,205,677	M1K	probably null	Het
Dnajc6	A	T	4: 101,618,532	K534M	possibly damaging	Het
Dnase2a	T	C	8: 84,908,876		probably null	Het
Dock10	A	G	1: 80,559,213	I985T	possibly damaging	Het
Emsy	G	T	7: 98,621,489	P436Q	probably damaging	Het
Enpp1	A	T	10: 24,654,083		probably null	Het
Erc1	T	A	6: 119,773,709	R353*	probably null	Het
Fam196b	T	A	11: 34,402,537	M193K	probably benign	Het
Fbn2	T	A	18: 58,039,313	D2140V	probably benign	Het
Fgfr1	T	A	8: 25,562,313	Y218*	probably null	Het
Fhod1	C	T	8: 105,330,108	R1045H	probably damaging	Het
Focad	G	T	4: 88,229,406	L427F	unknown	Het
Gbf1	T	A	19: 46,254,002	L144M	probably damaging	Het
Glmn	T	G	5: 107,549,075	N592T	probably benign	Het
Golgb1	C	G	16: 36,875,399	P87A	unknown	Het
H2bfm	G	A	X: 136,927,722	R120K	unknown	Het
Itga9	T	G	9: 118,658,496	F216V	possibly damaging	Het
Klhl18	T	C	9: 110,439,008	D149G	unknown	Het
Lrrc8c	C	A	5: 105,607,200	N280K	probably damaging	Het
Mettl8	T	C	2: 70,966,462	Y283C	probably damaging	Het
Mgat4a	A	T	1: 37,490,279	I173K	probably damaging	Het
Mmp1a	T	C	9: 7,475,265	V345A	possibly damaging	Het
Mok	T	A	12: 110,811,827	H215L	probably damaging	Het
Mphosph9	C	G	5: 124,315,587	E221Q	probably damaging	Het
Muc4	C	G	16: 32,753,930	Q1269E	probably benign	Het
Mug1	C	A	6: 121,861,220	H470N	possibly damaging	Het
Myom1	A	G	17: 71,117,436	T1525A	probably benign	Het
Nap1l1	C	T	10: 111,490,456	S143L	probably benign	Het
Olfr366	C	T	2: 37,219,660	T57I	probably benign	Het
Olfr531	A	T	7: 140,400,697	Y116*	probably null	Het
Olfr646	T	A	7: 104,106,988	S236R	probably damaging	Het
Olfr847	G	T	9: 19,375,065	T272K	probably benign	Het
Plbd2	T	C	5: 120,485,754	S568G	probably damaging	Het
Plxna4	T	A	6: 32,206,233		probably null	Het
Plxnc1	T	A	10: 94,794,477	E1520V	probably damaging	Het
Ppil3	G	A	1: 58,434,379	T104I	possibly damaging	Het
Ptprm	A	T	17: 67,095,539	V118E	probably damaging	Het
Rimbp2	T	C	5: 128,774,335	D849G	probably damaging	Het
Rnf213	T	C	11: 119,470,219		probably null	Het
Sema3f	T	A	9: 107,705,432	K37N	probably benign	Het
Sh3glb1	G	T	3: 144,692,131		probably null	Het
Sh3rf3	A	G	10: 59,086,815	D571G	probably benign	Het
Sipa1l3	T	C	7: 29,377,725	Y874C	probably damaging	Het
Smchd1	G	A	17: 71,475,301		probably benign	Het
Snrnp70	A	T	7: 45,376,621	Y441*	probably null	Het
Ssrp1	C	T	2: 85,041,181	R316W	probably damaging	Het
Syt10	A	T	15: 89,826,898	V144E	probably damaging	Het
Tdrd12	A	G	7: 35,488,692	L562P		Het
Trim68	T	C	7: 102,684,469	D2G	possibly damaging	Het
Trub2	T	A	2: 29,777,908	H240L	probably damaging	Het
Tssc4	A	G	7: 143,069,778		probably null	Het
Usp7	T	A	16: 8,698,811	Q539L	probably benign	Het
Vmn2r17	T	A	5: 109,452,965	C710S	possibly damaging	Het
Vmn2r99	G	T	17: 19,393,817	V600F	possibly damaging	Het
Vps13d	C	T	4: 145,100,065	V2879M		Het
Vrtn	T	A	12: 84,650,306	M610K	probably benign	Het
Xpo4	T	C	14: 57,613,349	E366G	probably benign	Het
Zyg11a	G	A	4: 108,183,648	P703S	probably damaging	Het

Other mutations in Lcat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02494:Lcat	APN	8	105941939	unclassified	probably benign
IGL02654:Lcat	APN	8	105939769	missense	possibly damaging	0.68
IGL02678:Lcat	APN	8	105941940	splice site	probably null
IGL02963:Lcat	APN	8	105939956	missense	probably damaging	0.99
IGL03304:Lcat	APN	8	105940063	missense	possibly damaging	0.94
R1754:Lcat	UTSW	8	105941814	frame shift	probably null
R1757:Lcat	UTSW	8	105941814	frame shift	probably null
R1824:Lcat	UTSW	8	105939888	missense	probably damaging	0.98
R1962:Lcat	UTSW	8	105941723	missense	probably damaging	0.98
R2866:Lcat	UTSW	8	105939879	missense	probably damaging	0.98
R4091:Lcat	UTSW	8	105939906	missense	probably benign	0.09
R4172:Lcat	UTSW	8	105942427	missense	possibly damaging	0.56
R4921:Lcat	UTSW	8	105942442	missense	possibly damaging	0.92
R5487:Lcat	UTSW	8	105939664	missense	probably benign
R6552:Lcat	UTSW	8	105939679	missense	possibly damaging	0.58
R7096:Lcat	UTSW	8	105939677	missense	possibly damaging	0.76
R8338:Lcat	UTSW	8	105940087	missense	probably damaging	1.00
R8773:Lcat	UTSW	8	105940078	missense	possibly damaging	0.68
R8775:Lcat	UTSW	8	105942391	missense	possibly damaging	0.52
R8775-TAIL:Lcat	UTSW	8	105942391	missense	possibly damaging	0.52
R8814:Lcat	UTSW	8	105941970	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCAGATTCTGCACCAGTGTG -3'
(R):5'- ACAGAGGACTTCTTCACCATC -3'

Sequencing Primer
(F):5'- ACCAGTGTGTGCAGGTAGC -3'
(R):5'- ACCATCTGGCTGGATTTCAAC -3'

Posted On

2019-11-26