Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03258:Plin4'

414718

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plin4

Ensembl Gene

ENSMUSG00000002831

Gene Name

perilipin 4

Synonyms

S3-12

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL03258

Quality Score

Status

Chromosome

Chromosomal Location

56407591-56416803 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56411371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 887 (T887A)

Ref Sequence

ENSEMBL: ENSMUSP00000139859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002908] [ENSMUST00000002911] [ENSMUST00000190703] [ENSMUST00000225843] [ENSMUST00000226053]

AlphaFold

O88492

Predicted Effect

probably benign
Transcript: ENSMUST00000002908
AA Change: T887A

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
AA Change: T887A

Domain	Start	End	E-Value	Type
low complexity region	19	31	N/A	INTRINSIC
internal_repeat_2	74	335	9.44e-7	PROSPERO
internal_repeat_1	103	467	2.72e-12	PROSPERO
internal_repeat_2	343	701	9.44e-7	PROSPERO
internal_repeat_1	598	1090	2.72e-12	PROSPERO
low complexity region	1124	1136	N/A	INTRINSIC
Pfam:Perilipin	1144	1385	2.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000002911

SMART Domains

Protein: ENSMUSP00000002911
Gene: ENSMUSG00000002833

Domain	Start	End	E-Value	Type
PWWP	5	62	1.78e-19	SMART
low complexity region	90	109	N/A	INTRINSIC
low complexity region	127	136	N/A	INTRINSIC
low complexity region	137	153	N/A	INTRINSIC
low complexity region	163	175	N/A	INTRINSIC
low complexity region	181	196	N/A	INTRINSIC
low complexity region	212	243	N/A	INTRINSIC
low complexity region	252	272	N/A	INTRINSIC
low complexity region	273	300	N/A	INTRINSIC
low complexity region	301	311	N/A	INTRINSIC
coiled coil region	321	364	N/A	INTRINSIC
low complexity region	398	411	N/A	INTRINSIC
Pfam:LEDGF	468	569	2.8e-31	PFAM
internal_repeat_1	575	644	2.5e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000190703
AA Change: T887A

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
AA Change: T887A

Domain	Start	End	E-Value	Type
low complexity region	19	31	N/A	INTRINSIC
internal_repeat_2	74	335	9.44e-7	PROSPERO
internal_repeat_1	103	467	2.72e-12	PROSPERO
internal_repeat_2	343	701	9.44e-7	PROSPERO
internal_repeat_1	598	1090	2.72e-12	PROSPERO
Pfam:Perilipin	1110	1385	1.4e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224701

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225342

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225731

Predicted Effect

probably benign
Transcript: ENSMUST00000225843

Predicted Effect

probably benign
Transcript: ENSMUST00000226053

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the perilipin family, such as PLIN4, coat intracellular lipid storage droplets (Wolins et al., 2003 [PubMed 12840023]).[supplied by OMIM, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased triglyceride in the heart and protection from cardiac steatosis induced by prolonged fasting, feeding or genetic obesity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,931,210 (GRCm39)		probably benign	Het
Adam1b	A	G	5: 121,639,447 (GRCm39)	S533P	possibly damaging	Het
Akr1c6	G	T	13: 4,486,408 (GRCm39)	G72C	probably damaging	Het
Carf	C	T	1: 60,148,388 (GRCm39)	T28I	possibly damaging	Het
Cog1	G	A	11: 113,545,919 (GRCm39)	W398*	probably null	Het
Dmpk	A	G	7: 18,826,131 (GRCm39)		probably null	Het
Dmxl1	T	C	18: 50,053,960 (GRCm39)	V2534A	probably damaging	Het
Fam78b	A	T	1: 166,906,323 (GRCm39)	T161S	probably damaging	Het
Fgd6	A	T	10: 93,969,215 (GRCm39)	T1161S	probably benign	Het
Gpr158	A	T	2: 21,830,085 (GRCm39)	D710V	probably damaging	Het
H2-Q4	A	G	17: 35,599,095 (GRCm39)	I122V	probably benign	Het
Ifi211	A	T	1: 173,733,098 (GRCm39)	C188S	probably benign	Het
Lamc3	A	C	2: 31,777,695 (GRCm39)	S114R	probably damaging	Het
Lrrc57	C	T	2: 120,435,703 (GRCm39)	A239T	probably damaging	Het
Mdga1	A	G	17: 30,058,887 (GRCm39)	Y707H	probably damaging	Het
Ms4a6b	T	G	19: 11,499,072 (GRCm39)	L62R	probably damaging	Het
Mtmr4	A	T	11: 87,502,829 (GRCm39)	H961L	possibly damaging	Het
Myrip	A	G	9: 120,270,418 (GRCm39)	N556S	probably benign	Het
Osgep	T	C	14: 51,155,346 (GRCm39)	T71A	possibly damaging	Het
Pwwp2a	T	A	11: 43,595,392 (GRCm39)	F186I	probably benign	Het
Serpina1b	G	T	12: 103,696,655 (GRCm39)	S251R	probably benign	Het
Setd7	T	C	3: 51,467,936 (GRCm39)		probably null	Het
Slc24a5	G	T	2: 124,922,625 (GRCm39)		probably null	Het
Slc25a17	A	G	15: 81,213,243 (GRCm39)		probably benign	Het
Slc5a4a	T	C	10: 75,986,386 (GRCm39)	V98A	possibly damaging	Het
Susd1	A	T	4: 59,379,655 (GRCm39)	I324N	possibly damaging	Het
Tcaf3	A	G	6: 42,566,773 (GRCm39)	L772P	probably damaging	Het

Other mutations in Plin4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01685:Plin4	APN	17	56,414,362 (GRCm39)	missense	probably damaging	0.98
IGL02121:Plin4	APN	17	56,409,131 (GRCm39)	missense	probably damaging	0.98
IGL02254:Plin4	APN	17	56,411,733 (GRCm39)	missense	probably damaging	0.98
IGL02539:Plin4	APN	17	56,413,680 (GRCm39)	missense	probably damaging	1.00
IGL02892:Plin4	APN	17	56,412,108 (GRCm39)	missense	probably damaging	1.00
IGL03051:Plin4	APN	17	56,412,417 (GRCm39)	missense	possibly damaging	0.91
PIT4519001:Plin4	UTSW	17	56,410,828 (GRCm39)	missense	probably benign	0.23
R0211:Plin4	UTSW	17	56,409,242 (GRCm39)	missense	probably damaging	1.00
R0365:Plin4	UTSW	17	56,411,667 (GRCm39)	missense	possibly damaging	0.93
R0545:Plin4	UTSW	17	56,413,567 (GRCm39)	missense	probably damaging	1.00
R0551:Plin4	UTSW	17	56,413,756 (GRCm39)	missense	probably benign	0.03
R0862:Plin4	UTSW	17	56,410,966 (GRCm39)	missense	probably benign	0.00
R0864:Plin4	UTSW	17	56,410,966 (GRCm39)	missense	probably benign	0.00
R1260:Plin4	UTSW	17	56,411,348 (GRCm39)	nonsense	probably null
R1650:Plin4	UTSW	17	56,411,931 (GRCm39)	missense	probably damaging	0.99
R1688:Plin4	UTSW	17	56,416,363 (GRCm39)	missense	possibly damaging	0.61
R1725:Plin4	UTSW	17	56,413,473 (GRCm39)	missense	probably damaging	1.00
R1803:Plin4	UTSW	17	56,411,931 (GRCm39)	missense	probably damaging	0.99
R1834:Plin4	UTSW	17	56,410,522 (GRCm39)	missense	probably damaging	0.97
R1953:Plin4	UTSW	17	56,410,849 (GRCm39)	missense	possibly damaging	0.49
R2860:Plin4	UTSW	17	56,413,668 (GRCm39)	missense	probably damaging	0.98
R2861:Plin4	UTSW	17	56,413,668 (GRCm39)	missense	probably damaging	0.98
R2915:Plin4	UTSW	17	56,411,389 (GRCm39)	missense	probably damaging	0.98
R3438:Plin4	UTSW	17	56,414,193 (GRCm39)	missense	probably benign	0.26
R3622:Plin4	UTSW	17	56,411,112 (GRCm39)	missense	possibly damaging	0.92
R3932:Plin4	UTSW	17	56,413,704 (GRCm39)	missense	probably benign	0.01
R4116:Plin4	UTSW	17	56,409,113 (GRCm39)	missense	probably benign	0.30
R4201:Plin4	UTSW	17	56,411,338 (GRCm39)	missense	probably damaging	1.00
R4529:Plin4	UTSW	17	56,411,274 (GRCm39)	missense	probably damaging	1.00
R4610:Plin4	UTSW	17	56,412,418 (GRCm39)	missense	probably benign	0.08
R4692:Plin4	UTSW	17	56,410,762 (GRCm39)	missense	probably damaging	1.00
R4693:Plin4	UTSW	17	56,410,762 (GRCm39)	missense	probably damaging	1.00
R4718:Plin4	UTSW	17	56,413,981 (GRCm39)	missense	possibly damaging	0.46
R5283:Plin4	UTSW	17	56,413,777 (GRCm39)	missense	probably benign	0.00
R5304:Plin4	UTSW	17	56,413,132 (GRCm39)	missense	probably benign	0.00
R5333:Plin4	UTSW	17	56,411,970 (GRCm39)	missense	probably benign	0.31
R5484:Plin4	UTSW	17	56,411,932 (GRCm39)	missense	possibly damaging	0.90
R5569:Plin4	UTSW	17	56,409,147 (GRCm39)	missense	probably benign	0.02
R5765:Plin4	UTSW	17	56,409,470 (GRCm39)	missense	possibly damaging	0.68
R5776:Plin4	UTSW	17	56,411,983 (GRCm39)	missense	probably damaging	0.99
R5828:Plin4	UTSW	17	56,414,064 (GRCm39)	missense	probably damaging	0.99
R5932:Plin4	UTSW	17	56,413,356 (GRCm39)	missense	possibly damaging	0.92
R5988:Plin4	UTSW	17	56,416,567 (GRCm39)	missense	probably benign	0.03
R6053:Plin4	UTSW	17	56,415,618 (GRCm39)	missense	probably benign	0.01
R6264:Plin4	UTSW	17	56,411,787 (GRCm39)	missense	possibly damaging	0.90
R6334:Plin4	UTSW	17	56,410,261 (GRCm39)	missense	probably benign	0.22
R6415:Plin4	UTSW	17	56,410,264 (GRCm39)	missense	probably damaging	1.00
R7030:Plin4	UTSW	17	56,410,969 (GRCm39)	missense	probably damaging	1.00
R7302:Plin4	UTSW	17	56,409,330 (GRCm39)	missense	probably benign	0.00
R7342:Plin4	UTSW	17	56,411,608 (GRCm39)	missense	probably benign	0.01
R7352:Plin4	UTSW	17	56,411,427 (GRCm39)	missense	probably benign	0.16
R7354:Plin4	UTSW	17	56,411,427 (GRCm39)	missense	probably benign	0.16
R7505:Plin4	UTSW	17	56,416,357 (GRCm39)	missense	possibly damaging	0.56
R7540:Plin4	UTSW	17	56,411,883 (GRCm39)	missense	probably damaging	0.96
R7570:Plin4	UTSW	17	56,413,776 (GRCm39)	missense	probably benign	0.00
R7685:Plin4	UTSW	17	56,409,413 (GRCm39)	missense	probably benign	0.02
R7699:Plin4	UTSW	17	56,410,828 (GRCm39)	missense	probably benign	0.01
R8165:Plin4	UTSW	17	56,414,019 (GRCm39)	missense	possibly damaging	0.92
R8309:Plin4	UTSW	17	56,411,437 (GRCm39)	missense	probably damaging	0.98
R8351:Plin4	UTSW	17	56,413,861 (GRCm39)	missense	probably benign	0.00
R8875:Plin4	UTSW	17	56,411,010 (GRCm39)	missense	probably benign	0.00
R9083:Plin4	UTSW	17	56,416,345 (GRCm39)	missense	possibly damaging	0.88
R9410:Plin4	UTSW	17	56,413,995 (GRCm39)	missense	probably benign	0.26

Posted On

2016-08-02