Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03112:Lclat1'

419232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lclat1

Ensembl Gene

ENSMUSG00000054469

Gene Name

lysocardiolipin acyltransferase 1

Synonyms

AGPAT8, Lycat, ALCAT1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

IGL03112

Quality Score

Status

Chromosome

Chromosomal Location

73414980-73550363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73546742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 220 (T220S)

Ref Sequence

ENSEMBL: ENSMUSP00000068690 (fasta)

Gene Model

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

AlphaFold

Q3UN02

Predicted Effect

probably damaging
Transcript: ENSMUST00000067545
AA Change: T220S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000068690
Gene: ENSMUSG00000054469
AA Change: T220S

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

Coding Region Coverage

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	T	C	8: 43,974,549 (GRCm39)	N151S	probably benign	Het
Adgre1	G	A	17: 57,755,029 (GRCm39)		probably null	Het
Apol11a	T	A	15: 77,401,509 (GRCm39)	L332Q	probably damaging	Het
B430306N03Rik	C	T	17: 48,623,834 (GRCm39)	S45L	probably benign	Het
Cend1	G	A	7: 141,007,640 (GRCm39)	T60M	probably benign	Het
Col6a3	C	A	1: 90,739,242 (GRCm39)	E329*	probably null	Het
Col9a3	A	G	2: 180,249,435 (GRCm39)	R266G	possibly damaging	Het
Defb48	C	T	14: 63,221,854 (GRCm39)		probably benign	Het
Eps8l2	T	G	7: 140,941,649 (GRCm39)	L640R	probably damaging	Het
Exoc2	T	A	13: 31,090,570 (GRCm39)		probably benign	Het
Fam149a	C	T	8: 45,801,580 (GRCm39)	V514M	possibly damaging	Het
Fbxo25	A	T	8: 13,971,034 (GRCm39)	D74V	probably benign	Het
Gm11733	A	G	11: 117,377,966 (GRCm39)	*126W	probably null	Het
Grm8	C	T	6: 27,363,262 (GRCm39)	C751Y	probably damaging	Het
Kctd16	A	T	18: 40,391,853 (GRCm39)	D147V	probably benign	Het
Lgi1	T	A	19: 38,272,478 (GRCm39)	H116Q	possibly damaging	Het
Lrrc40	G	A	3: 157,747,302 (GRCm39)		probably benign	Het
Lsm4	T	A	8: 71,130,656 (GRCm39)	I60N	probably damaging	Het
Morn1	T	A	4: 155,177,601 (GRCm39)	Y178N	probably damaging	Het
Mybl2	A	G	2: 162,904,456 (GRCm39)	E89G	probably damaging	Het
Myo18b	T	C	5: 113,021,856 (GRCm39)	E512G	probably benign	Het
Myrfl	A	T	10: 116,639,311 (GRCm39)	S583T	probably benign	Het
Nek6	A	G	2: 38,450,914 (GRCm39)	I106V	probably damaging	Het
Oas1a	A	T	5: 121,036,412 (GRCm39)	D338E	possibly damaging	Het
Or10ag52	T	A	2: 87,043,944 (GRCm39)	I236N	probably damaging	Het
Or4a76	G	A	2: 89,460,678 (GRCm39)	T188I	probably benign	Het
Or6c1	A	G	10: 129,517,792 (GRCm39)	V272A	probably benign	Het
Pitrm1	C	A	13: 6,615,044 (GRCm39)	Q508K	probably benign	Het
S100b	A	G	10: 76,095,808 (GRCm39)	D62G	probably damaging	Het
Sesn3	A	G	9: 14,221,557 (GRCm39)	H119R	probably damaging	Het
Sez6l	T	A	5: 112,621,333 (GRCm39)	E247V	probably damaging	Het
Shoc1	G	T	4: 59,049,355 (GRCm39)	Q1069K	probably benign	Het
Shq1	C	A	6: 100,550,574 (GRCm39)	E455*	probably null	Het
Slc9b1	T	A	3: 135,103,433 (GRCm39)	M521K	probably damaging	Het
Supt16	A	G	14: 52,413,855 (GRCm39)	F543L	probably damaging	Het
Tcf25	T	C	8: 124,109,258 (GRCm39)		probably benign	Het
Usp48	C	A	4: 137,335,375 (GRCm39)	Q183K	probably damaging	Het
Vmn1r178	G	A	7: 23,593,086 (GRCm39)	G45S	probably damaging	Het
Vmn1r237	T	A	17: 21,534,368 (GRCm39)	Y30*	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
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
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

Posted On

2016-08-02