Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01690:Plb1'

104071

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plb1

Ensembl Gene

ENSMUSG00000029134

Gene Name

phospholipase B1

Synonyms

4632413E21Rik, 4930433E17Rik, 4930539A06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL01690

Quality Score

Status

Chromosome

Chromosomal Location

32390035-32521700 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32471041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 538 (I538F)

Ref Sequence

ENSEMBL: ENSMUSP00000144040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101376] [ENSMUST00000202201] [ENSMUST00000202220]

AlphaFold

Q3TTY0

Predicted Effect

probably damaging
Transcript: ENSMUST00000101376
AA Change: I538F

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

SMART Domains

Protein: ENSMUSP00000098927
Gene: ENSMUSG00000029134
AA Change: I538F

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	57	69	N/A	INTRINSIC
Pfam:Lipase_GDSL	398	672	4e-20	PFAM
Pfam:Lipase_GDSL	745	1019	1.7e-17	PFAM
Pfam:Lipase_GDSL	1101	1367	4.6e-15	PFAM
transmembrane domain	1420	1442	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118876

Predicted Effect

probably damaging
Transcript: ENSMUST00000202201
AA Change: I538F

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

SMART Domains

Protein: ENSMUSP00000144401
Gene: ENSMUSG00000029134
AA Change: I538F

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	57	69	N/A	INTRINSIC
Pfam:Lipase_GDSL	398	672	1.3e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000202220
AA Change: I538F

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

SMART Domains

Protein: ENSMUSP00000144040
Gene: ENSMUSG00000029134
AA Change: I538F

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	57	69	N/A	INTRINSIC
Pfam:Lipase_GDSL	398	672	4e-20	PFAM
Pfam:Lipase_GDSL	745	1019	1.7e-17	PFAM
Pfam:Lipase_GDSL	1101	1367	4.6e-15	PFAM
transmembrane domain	1420	1442	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202886

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429P17Rik	A	G	13: 48,114,446 (GRCm39)		noncoding transcript	Het
Agap2	T	C	10: 126,918,827 (GRCm39)		probably benign	Het
Bicra	G	A	7: 15,721,678 (GRCm39)	T613I	probably benign	Het
Cd163	T	C	6: 124,284,277 (GRCm39)	S150P	possibly damaging	Het
Cfap107	G	A	4: 144,165,098 (GRCm39)	T26M	probably damaging	Het
F830045P16Rik	T	G	2: 129,314,614 (GRCm39)	Q221P	probably damaging	Het
Fam135b	T	A	15: 71,328,784 (GRCm39)	M1172L	probably benign	Het
Fbxo2	G	T	4: 148,249,581 (GRCm39)		probably null	Het
Frem1	C	T	4: 82,877,533 (GRCm39)		probably benign	Het
Galnt17	C	T	5: 131,114,734 (GRCm39)		probably null	Het
Gipc2	A	G	3: 151,833,771 (GRCm39)	I170T	probably damaging	Het
Gm2399	C	T	13: 12,717,417 (GRCm39)		noncoding transcript	Het
Hdac10	T	A	15: 89,010,194 (GRCm39)	M283L	probably benign	Het
Icam5	A	G	9: 20,946,095 (GRCm39)	E309G	possibly damaging	Het
Ift70a1	A	G	2: 75,810,277 (GRCm39)	V602A	probably benign	Het
Igkv3-5	T	A	6: 70,640,865 (GRCm39)	S115R	probably benign	Het
Impg2	A	G	16: 56,025,568 (GRCm39)	R67G	probably damaging	Het
Kansl1l	T	C	1: 66,840,232 (GRCm39)	Y356C	probably damaging	Het
Ly75	T	C	2: 60,168,655 (GRCm39)	D751G	probably damaging	Het
Lyst	A	G	13: 13,917,831 (GRCm39)	D3297G	probably damaging	Het
Mall	A	G	2: 127,571,699 (GRCm39)	F30L	probably benign	Het
Map1b	C	T	13: 99,571,512 (GRCm39)	G403D	probably damaging	Het
Mmp11	T	C	10: 75,762,730 (GRCm39)	Y241C	probably damaging	Het
Niban1	C	A	1: 151,579,555 (GRCm39)	R425S	probably damaging	Het
Or4a72	A	G	2: 89,405,557 (GRCm39)	V171A	probably benign	Het
Pcnt	C	T	10: 76,228,609 (GRCm39)	A1519T	probably damaging	Het
Pcsk2	A	G	2: 143,529,490 (GRCm39)	M96V	probably benign	Het
Piwil4	T	C	9: 14,614,391 (GRCm39)	D124G	probably damaging	Het
Polq	A	G	16: 36,883,200 (GRCm39)	D1788G	probably damaging	Het
Pus7	A	G	5: 23,980,962 (GRCm39)	S134P	probably damaging	Het
Sec61a2	G	A	2: 5,891,363 (GRCm39)	S56L	possibly damaging	Het
Sel1l	G	T	12: 91,810,033 (GRCm39)	D26E	probably benign	Het
Slc25a48	G	A	13: 56,612,758 (GRCm39)		probably benign	Het
Tas2r126	T	C	6: 42,412,241 (GRCm39)	F258S	probably benign	Het
Tnfrsf13b	G	A	11: 61,032,146 (GRCm39)	V59I	possibly damaging	Het
Usp6nl	G	A	2: 6,445,879 (GRCm39)	V619M	probably benign	Het
Vmn1r67	A	G	7: 10,180,767 (GRCm39)	I10M	possibly damaging	Het
Vmn2r71	A	G	7: 85,264,782 (GRCm39)	D38G	probably damaging	Het

Other mutations in Plb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Plb1	APN	5	32,503,080 (GRCm39)	missense	probably benign	0.00
IGL00542:Plb1	APN	5	32,427,178 (GRCm39)	missense	probably benign	0.02
IGL00835:Plb1	APN	5	32,521,516 (GRCm39)	missense	unknown
IGL00954:Plb1	APN	5	32,455,858 (GRCm39)	splice site	probably benign
IGL01350:Plb1	APN	5	32,474,408 (GRCm39)	missense	probably damaging	1.00
IGL01527:Plb1	APN	5	32,474,467 (GRCm39)	missense	probably damaging	1.00
IGL01599:Plb1	APN	5	32,499,888 (GRCm39)	splice site	probably benign
IGL01813:Plb1	APN	5	32,486,429 (GRCm39)	missense	probably damaging	1.00
IGL01826:Plb1	APN	5	32,438,489 (GRCm39)	missense	probably damaging	0.99
IGL02263:Plb1	APN	5	32,478,692 (GRCm39)	splice site	probably benign
IGL02314:Plb1	APN	5	32,438,492 (GRCm39)	missense	possibly damaging	0.93
IGL02649:Plb1	APN	5	32,519,912 (GRCm39)	missense	probably benign	0.09
IGL02701:Plb1	APN	5	32,521,541 (GRCm39)	missense	unknown
IGL02704:Plb1	APN	5	32,511,011 (GRCm39)	missense	probably benign	0.03
IGL03170:Plb1	APN	5	32,442,246 (GRCm39)	missense	probably damaging	0.99
IGL03182:Plb1	APN	5	32,502,259 (GRCm39)	splice site	probably benign
IGL03326:Plb1	APN	5	32,488,671 (GRCm39)	missense	probably benign	0.00
IGL03046:Plb1	UTSW	5	32,485,756 (GRCm39)	missense	probably damaging	1.00
R0013:Plb1	UTSW	5	32,506,959 (GRCm39)	splice site	probably benign
R0013:Plb1	UTSW	5	32,506,959 (GRCm39)	splice site	probably benign
R0034:Plb1	UTSW	5	32,430,457 (GRCm39)	missense	probably benign	0.16
R0034:Plb1	UTSW	5	32,430,457 (GRCm39)	missense	probably benign	0.16
R0330:Plb1	UTSW	5	32,512,701 (GRCm39)	missense	probably damaging	1.00
R0413:Plb1	UTSW	5	32,512,706 (GRCm39)	missense	probably damaging	1.00
R0721:Plb1	UTSW	5	32,521,539 (GRCm39)	missense	unknown
R0735:Plb1	UTSW	5	32,442,264 (GRCm39)	missense	possibly damaging	0.90
R1423:Plb1	UTSW	5	32,450,601 (GRCm39)	missense	probably benign
R1428:Plb1	UTSW	5	32,422,256 (GRCm39)	missense	possibly damaging	0.82
R1469:Plb1	UTSW	5	32,512,170 (GRCm39)	missense	possibly damaging	0.46
R1469:Plb1	UTSW	5	32,512,170 (GRCm39)	missense	possibly damaging	0.46
R1694:Plb1	UTSW	5	32,474,621 (GRCm39)	missense	probably null	0.01
R1801:Plb1	UTSW	5	32,450,587 (GRCm39)	missense	probably damaging	1.00
R1804:Plb1	UTSW	5	32,511,041 (GRCm39)	missense	possibly damaging	0.91
R1900:Plb1	UTSW	5	32,444,191 (GRCm39)	missense	probably benign	0.44
R1903:Plb1	UTSW	5	32,448,582 (GRCm39)	missense	probably damaging	1.00
R2101:Plb1	UTSW	5	32,507,004 (GRCm39)	missense	probably damaging	1.00
R2153:Plb1	UTSW	5	32,471,433 (GRCm39)	missense	probably damaging	1.00
R2207:Plb1	UTSW	5	32,473,984 (GRCm39)	missense	possibly damaging	0.50
R2270:Plb1	UTSW	5	32,450,586 (GRCm39)	missense	probably damaging	1.00
R2271:Plb1	UTSW	5	32,450,586 (GRCm39)	missense	probably damaging	1.00
R2311:Plb1	UTSW	5	32,427,162 (GRCm39)	missense	probably benign	0.01
R2850:Plb1	UTSW	5	32,450,568 (GRCm39)	missense	probably benign
R3103:Plb1	UTSW	5	32,485,373 (GRCm39)	missense	possibly damaging	0.92
R4444:Plb1	UTSW	5	32,487,909 (GRCm39)	missense	probably benign	0.06
R4559:Plb1	UTSW	5	32,490,175 (GRCm39)	missense	probably damaging	0.99
R4577:Plb1	UTSW	5	32,404,901 (GRCm39)	nonsense	probably null
R4578:Plb1	UTSW	5	32,404,901 (GRCm39)	nonsense	probably null
R4739:Plb1	UTSW	5	32,507,023 (GRCm39)	splice site	probably null
R4747:Plb1	UTSW	5	32,507,003 (GRCm39)	missense	probably benign	0.08
R4806:Plb1	UTSW	5	32,447,196 (GRCm39)	missense	probably damaging	1.00
R5406:Plb1	UTSW	5	32,499,259 (GRCm39)	missense	probably damaging	1.00
R5567:Plb1	UTSW	5	32,521,543 (GRCm39)	missense	unknown
R5574:Plb1	UTSW	5	32,487,291 (GRCm39)	missense	probably benign	0.13
R5588:Plb1	UTSW	5	32,487,293 (GRCm39)	critical splice donor site	probably null
R5619:Plb1	UTSW	5	32,490,841 (GRCm39)	missense	probably damaging	0.99
R5769:Plb1	UTSW	5	32,474,866 (GRCm39)	missense	probably benign	0.05
R6366:Plb1	UTSW	5	32,471,429 (GRCm39)	missense	possibly damaging	0.59
R6700:Plb1	UTSW	5	32,490,808 (GRCm39)	missense	probably damaging	0.99
R7162:Plb1	UTSW	5	32,507,007 (GRCm39)	missense	probably benign	0.30
R7379:Plb1	UTSW	5	32,502,983 (GRCm39)	missense	probably damaging	1.00
R7395:Plb1	UTSW	5	32,511,028 (GRCm39)	missense	probably benign	0.30
R7426:Plb1	UTSW	5	32,478,591 (GRCm39)	splice site	probably null
R7643:Plb1	UTSW	5	32,404,901 (GRCm39)	nonsense	probably null
R7657:Plb1	UTSW	5	32,487,211 (GRCm39)	missense	probably damaging	0.98
R7780:Plb1	UTSW	5	32,483,610 (GRCm39)	splice site	probably null
R8040:Plb1	UTSW	5	32,430,413 (GRCm39)	missense	possibly damaging	0.89
R8212:Plb1	UTSW	5	32,422,250 (GRCm39)	missense	probably damaging	1.00
R8312:Plb1	UTSW	5	32,485,829 (GRCm39)	missense	probably damaging	1.00
R8560:Plb1	UTSW	5	32,460,023 (GRCm39)	missense	possibly damaging	0.95
R8770:Plb1	UTSW	5	32,404,853 (GRCm39)	missense	unknown
R8857:Plb1	UTSW	5	32,521,556 (GRCm39)	missense	unknown
R9029:Plb1	UTSW	5	32,439,079 (GRCm39)	missense	probably damaging	0.99
R9110:Plb1	UTSW	5	32,521,402 (GRCm39)	missense	probably benign	0.00
R9765:Plb1	UTSW	5	32,512,731 (GRCm39)	missense	probably damaging	1.00
X0018:Plb1	UTSW	5	32,443,227 (GRCm39)	missense	probably benign	0.01
X0019:Plb1	UTSW	5	32,511,041 (GRCm39)	missense	probably damaging	0.99
X0027:Plb1	UTSW	5	32,427,702 (GRCm39)	missense	probably benign
X0028:Plb1	UTSW	5	32,460,019 (GRCm39)	missense	probably damaging	1.00
Z1088:Plb1	UTSW	5	32,468,261 (GRCm39)	missense	probably benign
Z1088:Plb1	UTSW	5	32,468,191 (GRCm39)	missense	probably damaging	0.99
Z1177:Plb1	UTSW	5	32,442,241 (GRCm39)	missense	possibly damaging	0.91

Posted On

2014-01-21