Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01310:Lpcat3'

73621

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lpcat3

Ensembl Gene

ENSMUSG00000004270

Gene Name

lysophosphatidylcholine acyltransferase 3

Synonyms

Oact5, Mboat5, Grcc3f

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

IGL01310

Quality Score

Status

Chromosome

Chromosomal Location

124639887-124681142 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124676301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 120 (F120S)

Ref Sequence

ENSEMBL: ENSMUSP00000004381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004381] [ENSMUST00000128721]

AlphaFold

Q91V01

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004381
AA Change: F120S

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000004381
Gene: ENSMUSG00000004270
AA Change: F120S

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
Pfam:MBOAT	126	437	1.2e-81	PFAM
transmembrane domain	454	473	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128721

SMART Domains

Protein: ENSMUSP00000144738
Gene: ENSMUSG00000004270

Domain	Start	End	E-Value	Type
transmembrane domain	41	63	N/A	INTRINSIC
transmembrane domain	73	95	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135516

SMART Domains

Protein: ENSMUSP00000122436
Gene: ENSMUSG00000004270

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
transmembrane domain	111	133	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150597

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204334

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Nullizygous mice show low blood glucose levels and postnatal death. Intestine-specific knockouts fail to thrive and show enterocyte lipid accumulation and low plasma triglycerides (TGs). Liver-specific knockouts show low plasma TGs, fatty liver, and secrete VLDL lacking arachidonoyl phospholipids. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930431F12Rik	A	T	5: 45,125,156 (GRCm39)		noncoding transcript	Het
Abca12	A	T	1: 71,323,315 (GRCm39)	I1589N	probably benign	Het
Abca8a	T	G	11: 109,950,801 (GRCm39)	D888A	probably benign	Het
Adam5	C	T	8: 25,232,150 (GRCm39)		probably benign	Het
Amer1	A	T	X: 94,470,716 (GRCm39)	N467K	probably benign	Het
Atp6v0a2	A	G	5: 124,783,968 (GRCm39)	D272G	probably damaging	Het
Cacna1b	A	T	2: 24,575,794 (GRCm39)	N751K	probably damaging	Het
Cfi	T	A	3: 129,652,080 (GRCm39)	N250K	probably damaging	Het
Cndp2	G	T	18: 84,689,002 (GRCm39)	P260Q	possibly damaging	Het
Cnnm3	A	G	1: 36,551,956 (GRCm39)	D322G	probably benign	Het
Crybg1	A	T	10: 43,851,054 (GRCm39)	S1606T	possibly damaging	Het
Crybg1	A	G	10: 43,879,596 (GRCm39)	S531P	probably damaging	Het
Espnl	A	T	1: 91,268,333 (GRCm39)	K320*	probably null	Het
Glt1d1	A	G	5: 127,709,384 (GRCm39)	T13A	possibly damaging	Het
Gpam	C	T	19: 55,066,764 (GRCm39)	A584T	possibly damaging	Het
Gpr19	A	G	6: 134,846,705 (GRCm39)	I289T	probably damaging	Het
Grm8	T	C	6: 27,363,800 (GRCm39)	I572V	probably damaging	Het
Gtpbp4	A	T	13: 9,027,308 (GRCm39)	N502K	probably benign	Het
Herpud2	T	C	9: 25,062,247 (GRCm39)	M6V	probably benign	Het
Igdcc3	T	C	9: 65,085,724 (GRCm39)	V263A	probably damaging	Het
Il33	G	A	19: 29,930,156 (GRCm39)	A65T	probably benign	Het
Itga9	T	A	9: 118,598,227 (GRCm39)	M1K	probably null	Het
Izumo3	T	C	4: 92,035,217 (GRCm39)		probably benign	Het
Kdr	G	A	5: 76,110,261 (GRCm39)	P909S	probably damaging	Het
Kirrel1	C	T	3: 86,997,182 (GRCm39)	E262K	probably benign	Het
Krt25	T	A	11: 99,208,996 (GRCm39)	Q278L	probably benign	Het
Lgi2	G	T	5: 52,711,807 (GRCm39)	P195Q	probably benign	Het
Nalcn	C	T	14: 123,554,661 (GRCm39)	R910Q	probably benign	Het
Nrxn1	A	G	17: 90,366,902 (GRCm39)		probably null	Het
Nuf2	A	T	1: 169,326,431 (GRCm39)	V440E	probably benign	Het
Or10ag60	T	A	2: 87,437,852 (GRCm39)	I40N	possibly damaging	Het
Or4f14	C	T	2: 111,742,652 (GRCm39)	V208M	probably benign	Het
Or51ah3	C	T	7: 103,210,008 (GRCm39)	S108F	probably benign	Het
Or6c205	T	C	10: 129,086,865 (GRCm39)	I154T	possibly damaging	Het
Pfpl	A	G	19: 12,405,974 (GRCm39)	D75G	probably damaging	Het
Pgm5	A	G	19: 24,812,130 (GRCm39)	V134A	possibly damaging	Het
Prkch	A	G	12: 73,805,787 (GRCm39)	I521V	possibly damaging	Het
Rps6kc1	T	A	1: 190,515,822 (GRCm39)	E968V	probably benign	Het
Slc25a30	T	C	14: 76,007,037 (GRCm39)	Y153C	probably damaging	Het
Smtnl2	T	A	11: 72,292,171 (GRCm39)		probably null	Het
Spmip4	C	A	6: 50,551,175 (GRCm39)	V425L	probably benign	Het
Tbc1d14	T	A	5: 36,700,544 (GRCm39)	K275*	probably null	Het
Tnc	T	C	4: 63,931,314 (GRCm39)	T799A	probably benign	Het
Trdn	A	T	10: 33,181,094 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,706,879 (GRCm39)		probably benign	Het
Uaca	T	C	9: 60,779,507 (GRCm39)	M1296T	probably benign	Het
Ubash3a	A	C	17: 31,434,116 (GRCm39)	I154L	probably benign	Het
Vmn2r4	T	A	3: 64,317,200 (GRCm39)		probably null	Het
Xpc	T	C	6: 91,467,089 (GRCm39)	K915E	probably benign	Het
Zfp318	T	C	17: 46,724,153 (GRCm39)	I2052T	possibly damaging	Het

Other mutations in Lpcat3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02279:Lpcat3	APN	6	124,675,072 (GRCm39)	missense	probably damaging	1.00
IGL02869:Lpcat3	APN	6	124,679,970 (GRCm39)	missense	possibly damaging	0.65
R0045:Lpcat3	UTSW	6	124,678,437 (GRCm39)	missense	probably benign	0.12
R0045:Lpcat3	UTSW	6	124,678,437 (GRCm39)	missense	probably benign	0.12
R2075:Lpcat3	UTSW	6	124,680,066 (GRCm39)	missense	probably damaging	1.00
R3757:Lpcat3	UTSW	6	124,676,955 (GRCm39)	splice site	probably null
R4181:Lpcat3	UTSW	6	124,680,187 (GRCm39)	unclassified	probably benign
R4583:Lpcat3	UTSW	6	124,680,286 (GRCm39)	missense	possibly damaging	0.92
R5134:Lpcat3	UTSW	6	124,679,493 (GRCm39)	missense	probably benign	0.00
R5159:Lpcat3	UTSW	6	124,676,357 (GRCm39)	intron	probably benign
R6703:Lpcat3	UTSW	6	124,640,185 (GRCm39)	missense	probably benign	0.02
R6833:Lpcat3	UTSW	6	124,676,974 (GRCm39)	missense	probably damaging	1.00
R7261:Lpcat3	UTSW	6	124,675,050 (GRCm39)	missense	probably benign	0.02
R7604:Lpcat3	UTSW	6	124,679,493 (GRCm39)	missense	probably benign	0.00
R9399:Lpcat3	UTSW	6	124,640,283 (GRCm39)	missense	probably benign	0.00
R9620:Lpcat3	UTSW	6	124,680,543 (GRCm39)	missense	probably damaging	0.99
R9756:Lpcat3	UTSW	6	124,679,967 (GRCm39)	critical splice acceptor site	probably null
X0017:Lpcat3	UTSW	6	124,675,081 (GRCm39)	missense	possibly damaging	0.49

Posted On

2013-10-07