Mutagenetix > Incidental Mutation

Incidental Mutation 'R7063:Lclat1'

548419

Institutional Source

Beutler Lab

Gene Symbol

Lclat1

Ensembl Gene

ENSMUSG00000054469

Gene Name

lysocardiolipin acyltransferase 1

Synonyms

AGPAT8, Lycat, ALCAT1

MMRRC Submission

045159-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R7063 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73414980-73550363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73546986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 301 (E301G)

Ref Sequence

ENSEMBL: ENSMUSP00000068690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067545]

AlphaFold

Q3UN02

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067545
AA Change: E301G

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000068690
Gene: ENSMUSG00000054469
AA Change: E301G

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
PlsC	79	201	8.7e-15	SMART
Pfam:Acyltransf_C	232	315	1e-20	PFAM
transmembrane domain	334	356	N/A	INTRINSIC

Meta Mutation Damage Score

0.1819

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (43/43)

MGI Phenotype

PHENOTYPE: Male mice homozygous for a knock-out allele and fed a high fat diet exhibit resistance to diet induced obesity, decreased total body fat, increased insulin sensitivity, polyphagia, hyperactivity, increased energy expenditure, and increased fatty acid oxidation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap35	A	G	7: 16,299,038 (GRCm39)	V9A	probably benign	Het
Btbd6	A	G	12: 112,941,132 (GRCm39)	Y148C	probably damaging	Het
Casr	T	C	16: 36,314,936 (GRCm39)	I968V	probably benign	Het
Celf1	T	C	2: 90,843,189 (GRCm39)		probably null	Het
Chst2	G	T	9: 95,287,621 (GRCm39)	R242S	probably benign	Het
Clca3a1	T	A	3: 144,460,967 (GRCm39)	D228V	probably damaging	Het
Cwf19l2	A	G	9: 3,430,532 (GRCm39)	Y288C	probably benign	Het
Cyp2r1	A	G	7: 114,152,184 (GRCm39)	S49P	probably damaging	Het
Dnah5	A	G	15: 28,233,394 (GRCm39)	E251G	probably benign	Het
Eepd1	A	G	9: 25,394,332 (GRCm39)	R199G	possibly damaging	Het
Fat1	C	T	8: 45,493,812 (GRCm39)	T3986I	probably benign	Het
Gbp4	G	A	5: 105,266,314 (GRCm39)	R576C	probably damaging	Het
Glp1r	A	G	17: 31,144,532 (GRCm39)	Y235C	probably damaging	Het
Gm6408	T	C	5: 146,420,594 (GRCm39)	I158T	probably benign	Het
Gpr89	C	G	3: 96,783,014 (GRCm39)	R312P	probably damaging	Het
Idh2	A	G	7: 79,745,432 (GRCm39)	V403A	probably damaging	Het
Lgmn	A	G	12: 102,368,937 (GRCm39)	Y181H	probably damaging	Het
Lgr5	T	C	10: 115,292,639 (GRCm39)	Y417C	probably damaging	Het
Man1a	G	T	10: 53,906,840 (GRCm39)	N311K	probably damaging	Het
Nat10	G	A	2: 103,578,422 (GRCm39)	L228F	probably benign	Het
Or10d3	T	G	9: 39,461,411 (GRCm39)	Y252S	possibly damaging	Het
Or10v5	A	G	19: 11,805,548 (GRCm39)	F281L	probably damaging	Het
Or5b12b	A	G	19: 12,861,449 (GRCm39)	D68G	probably damaging	Het
Or5p55	C	A	7: 107,567,411 (GRCm39)	A269E	probably benign	Het
Pcmtd2	T	A	2: 181,496,776 (GRCm39)	Y130*	probably null	Het
Potefam3f	G	A	8: 20,479,013 (GRCm39)	C7Y		Het
Qrfprl	A	G	6: 65,418,387 (GRCm39)		probably benign	Het
Rapgef5	A	G	12: 117,652,864 (GRCm39)	D62G	possibly damaging	Het
Serpina3m	A	T	12: 104,357,726 (GRCm39)	I217L	probably benign	Het
Supt16	T	C	14: 52,409,505 (GRCm39)	R802G	possibly damaging	Het
Sypl2	A	T	3: 108,124,971 (GRCm39)	M130K	probably benign	Het
Tmtc2	A	T	10: 105,184,386 (GRCm39)	L503Q	probably damaging	Het
Ubald2	A	G	11: 116,325,443 (GRCm39)	Q60R	probably benign	Het
Vav1	C	T	17: 57,618,860 (GRCm39)	Q673*	probably null	Het
Vgll2	T	C	10: 51,904,072 (GRCm39)	S312P	probably benign	Het
Vmn1r191	C	T	13: 22,362,864 (GRCm39)	A297T	probably benign	Het
Vmn1r7	T	A	6: 57,001,418 (GRCm39)	I281F	possibly damaging	Het
Vmn2r108	T	C	17: 20,701,410 (GRCm39)	Y30C	probably damaging	Het
Vmn2r16	A	G	5: 109,511,650 (GRCm39)	N619S	probably damaging	Het
Vstm5	A	G	9: 15,150,549 (GRCm39)		probably benign	Het
Zfp7	A	G	15: 76,775,919 (GRCm39)	I654V	possibly damaging	Het
Zmat2	A	G	18: 36,929,627 (GRCm39)	N129S	probably null	Het

Other mutations in Lclat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02616:Lclat1	APN	17	73,476,528 (GRCm39)	missense	probably benign	0.35
IGL03112:Lclat1	APN	17	73,546,742 (GRCm39)	missense	probably damaging	1.00
R0270:Lclat1	UTSW	17	73,547,022 (GRCm39)	missense	probably benign	0.33
R1661:Lclat1	UTSW	17	73,494,999 (GRCm39)	missense	probably damaging	1.00
R1665:Lclat1	UTSW	17	73,494,999 (GRCm39)	missense	probably damaging	1.00
R1674:Lclat1	UTSW	17	73,546,776 (GRCm39)	missense	probably damaging	1.00
R1678:Lclat1	UTSW	17	73,503,715 (GRCm39)	missense	probably damaging	0.97
R4785:Lclat1	UTSW	17	73,547,065 (GRCm39)	nonsense	probably null
R5458:Lclat1	UTSW	17	73,546,914 (GRCm39)	missense	probably damaging	1.00
R6455:Lclat1	UTSW	17	73,468,828 (GRCm39)	missense	probably damaging	0.99
R7635:Lclat1	UTSW	17	73,468,931 (GRCm39)	missense	probably benign	0.01
R9217:Lclat1	UTSW	17	73,494,879 (GRCm39)	missense	probably damaging	0.99
R9300:Lclat1	UTSW	17	73,546,919 (GRCm39)	missense	probably benign	0.33
R9352:Lclat1	UTSW	17	73,468,937 (GRCm39)	missense	probably damaging	1.00
X0028:Lclat1	UTSW	17	73,476,513 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGAGATCCACTTCCACGTC -3'
(R):5'- TGAACGCCGCCATCTTACTC -3'

Sequencing Primer
(F):5'- TCCAGCGGTATCCAGCTGAC -3'
(R):5'- ACGGTAACATGCAAGTTCAATG -3'

Posted On

2019-05-13