Mutagenetix > Incidental Mutation

Incidental Mutation 'R5458:Lclat1'

432902

Institutional Source

Beutler Lab

Gene Symbol

Lclat1

Ensembl Gene

ENSMUSG00000054469

Gene Name

lysocardiolipin acyltransferase 1

Synonyms

AGPAT8, Lycat, ALCAT1

MMRRC Submission

043021-MU

Accession Numbers

Essential gene?

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

Stock #

R5458 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73414980-73550363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73546914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 277 (L277P)

Ref Sequence

ENSEMBL: ENSMUSP00000068690 (fasta)

Gene Model

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

AlphaFold

Q3UN02

Predicted Effect

probably damaging
Transcript: ENSMUST00000067545
AA Change: L277P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068690
Gene: ENSMUSG00000054469
AA Change: L277P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134149

Meta Mutation Damage Score

0.8949

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (54/55)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	A	G	6: 125,027,013 (GRCm39)		probably benign	Het
Acsl5	A	G	19: 55,282,662 (GRCm39)	D589G	probably damaging	Het
Akap13	T	A	7: 75,236,049 (GRCm39)	L208Q	probably damaging	Het
Ankfn1	C	T	11: 89,325,636 (GRCm39)	R512K	probably benign	Het
Ankhd1	T	C	18: 36,781,538 (GRCm39)	S2197P	probably benign	Het
Ankrd27	A	G	7: 35,291,236 (GRCm39)	N11D	probably damaging	Het
Aspg	T	C	12: 112,086,436 (GRCm39)	V230A	probably damaging	Het
Atp2c1	A	T	9: 105,291,924 (GRCm39)	Y709*	probably null	Het
Atp8b2	T	C	3: 89,853,329 (GRCm39)	N748D	probably benign	Het
B4galnt3	A	G	6: 120,187,346 (GRCm39)	V684A	probably damaging	Het
Bco2	T	C	9: 50,456,644 (GRCm39)		probably null	Het
Bcr	T	C	10: 74,990,792 (GRCm39)	V766A	probably benign	Het
Brca1	T	C	11: 101,408,111 (GRCm39)	N1404S	possibly damaging	Het
Cfap251	A	G	5: 123,392,508 (GRCm39)		probably benign	Het
Chd1	A	G	17: 15,958,811 (GRCm39)	D621G	probably damaging	Het
Chek1	A	G	9: 36,625,725 (GRCm39)	S307P	probably benign	Het
Dhx29	T	C	13: 113,103,155 (GRCm39)	M1345T	probably benign	Het
Dnah6	T	A	6: 73,063,168 (GRCm39)	T2697S	probably damaging	Het
Ephb4	T	C	5: 137,368,114 (GRCm39)	V753A	probably damaging	Het
Fat1	T	C	8: 45,466,090 (GRCm39)	Y1427H	probably damaging	Het
Fggy	A	G	4: 95,814,980 (GRCm39)	Q445R	probably benign	Het
Fv1	A	G	4: 147,954,726 (GRCm39)	S431G	probably benign	Het
Gm5965	A	T	16: 88,575,395 (GRCm39)	R189S	probably benign	Het
Gnas	A	G	2: 174,140,124 (GRCm39)	I98V	probably benign	Het
Ino80	T	C	2: 119,242,910 (GRCm39)	N1086D	possibly damaging	Het
Lipc	T	C	9: 70,759,864 (GRCm39)		probably benign	Het
Myo3a	T	C	2: 22,250,361 (GRCm39)	I76T	probably damaging	Het
Nkpd1	C	A	7: 19,258,201 (GRCm39)	A510E	probably damaging	Het
Nlgn2	G	T	11: 69,718,726 (GRCm39)	Q285K	possibly damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Pax5	T	C	4: 44,679,526 (GRCm39)	D172G	probably damaging	Het
Pcdh15	T	A	10: 74,340,611 (GRCm39)	V1115D	probably damaging	Het
Pdzd7	T	C	19: 45,016,230 (GRCm39)	S964G	probably benign	Het
Phip	G	T	9: 82,808,553 (GRCm39)	P474Q	probably benign	Het
Pop5	C	T	5: 115,378,496 (GRCm39)		probably benign	Het
Ppfibp1	A	T	6: 146,913,933 (GRCm39)		probably benign	Het
Rdh11	C	T	12: 79,235,279 (GRCm39)	A106T	probably benign	Het
Rin3	A	G	12: 102,339,975 (GRCm39)	T642A	probably damaging	Het
Scmh1	C	T	4: 120,362,478 (GRCm39)		probably benign	Het
Skint2	A	G	4: 112,481,377 (GRCm39)	H80R	possibly damaging	Het
Spata16	A	T	3: 26,831,686 (GRCm39)	N265I	probably damaging	Het
Srpk1	T	C	17: 28,818,446 (GRCm39)		probably null	Het
Tcaf1	T	C	6: 42,663,476 (GRCm39)	T135A	probably benign	Het
Trappc12	A	G	12: 28,796,389 (GRCm39)	V381A	probably damaging	Het
Trim33	T	A	3: 103,237,496 (GRCm39)	I184K	possibly damaging	Het
Unc13a	C	T	8: 72,116,889 (GRCm39)	V62M	probably damaging	Het
Vrk2	A	G	11: 26,448,919 (GRCm39)	V225A	probably damaging	Het
Wdr95	C	T	5: 149,487,879 (GRCm39)	P171L	probably damaging	Het
Wsb1	T	C	11: 79,139,262 (GRCm39)	T75A	probably damaging	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
R6455:Lclat1	UTSW	17	73,468,828 (GRCm39)	missense	probably damaging	0.99
R7063:Lclat1	UTSW	17	73,546,986 (GRCm39)	missense	possibly damaging	0.58
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'- TTCATGACATCACGGTCGC -3'
(R):5'- ATTCTCTCCTGCAGCACGAAG -3'

Sequencing Primer
(F):5'- TGACATCACGGTCGCATATC -3'
(R):5'- TGATTATAAAATACCACCGAACAGGG -3'

Posted On

2016-10-06