Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01460:Postn'

87972

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Postn

Ensembl Gene

ENSMUSG00000027750

Gene Name

periostin, osteoblast specific factor

Synonyms

A630052E07Rik, peri, Periostin, Osf2, OSF-2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01460

Quality Score

Status

Chromosome

Chromosomal Location

54268530-54298458 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 54282579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073012] [ENSMUST00000081564] [ENSMUST00000107985] [ENSMUST00000117373]

AlphaFold

Q62009

Predicted Effect

probably benign
Transcript: ENSMUST00000073012

SMART Domains

Protein: ENSMUSP00000072773
Gene: ENSMUSG00000027750

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FAS1	135	235	7.81e-30	SMART
FAS1	272	370	2.31e-32	SMART
FAS1	406	497	2.43e-17	SMART
FAS1	534	633	2.5e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000081564

SMART Domains

Protein: ENSMUSP00000080276
Gene: ENSMUSG00000027750

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FAS1	135	235	7.81e-30	SMART
FAS1	272	370	2.31e-32	SMART
FAS1	406	497	2.43e-17	SMART
FAS1	534	633	2.5e-28	SMART
low complexity region	669	680	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107985

SMART Domains

Protein: ENSMUSP00000103619
Gene: ENSMUSG00000027750

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FAS1	135	235	7.81e-30	SMART
FAS1	272	370	2.31e-32	SMART
FAS1	406	497	2.43e-17	SMART
FAS1	534	633	2.5e-28	SMART
low complexity region	669	680	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117373

SMART Domains

Protein: ENSMUSP00000112735
Gene: ENSMUSG00000027750

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FAS1	135	235	7.81e-30	SMART
FAS1	272	370	2.31e-32	SMART
FAS1	406	497	2.43e-17	SMART
FAS1	534	633	2.5e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145036

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a secreted extracellular matrix protein that functions in tissue development and regeneration, including wound healing and ventricular remodeling following myocardial infarction. The encoded protein binds to integrins to support adhesion and migration of epithelial cells. This protein plays a role in cancer stem cell maintenance and metastasis. Mice lacking this gene exhibit cardiac valve disease, and skeletal and dental defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice display abnormalities of the enamel, periodontal ligament, ameloblasts, and incisors. For one allele changing the hardness of the food alters the severity of the abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,397,594 (GRCm39)	V2608A	probably benign	Het
Cntrl	A	G	2: 35,055,856 (GRCm39)	K1250R	probably benign	Het
Ctsm	T	C	13: 61,686,850 (GRCm39)	Q14R	probably damaging	Het
Dnah7b	A	G	1: 46,178,864 (GRCm39)	N846D	possibly damaging	Het
Erbb2	C	T	11: 98,325,365 (GRCm39)	R898C	probably damaging	Het
Itgb3	C	T	11: 104,553,220 (GRCm39)	Q693*	probably null	Het
Kcnk18	G	A	19: 59,208,289 (GRCm39)	V42M	probably damaging	Het
Kng1	A	G	16: 22,897,944 (GRCm39)	H448R	probably benign	Het
Mtf2	C	T	5: 108,228,809 (GRCm39)	P42S	probably damaging	Het
Myo10	A	T	15: 25,714,194 (GRCm39)	E120V	probably benign	Het
Or12k5	A	C	2: 36,894,648 (GRCm39)	M326R	probably benign	Het
Or9a2	A	C	6: 41,749,216 (GRCm39)	S6A	probably benign	Het
Peli1	C	T	11: 21,096,966 (GRCm39)	P119S	probably benign	Het
Pelp1	A	G	11: 70,284,790 (GRCm39)	V1026A	unknown	Het
Pi4ka	A	G	16: 17,175,515 (GRCm39)	F438L	probably damaging	Het
Taf1b	T	C	12: 24,608,245 (GRCm39)	L548P	possibly damaging	Het
Tbc1d7	C	T	13: 43,318,835 (GRCm39)	A101T	probably benign	Het
Vcp	C	A	4: 42,996,040 (GRCm39)	R53L	possibly damaging	Het

Other mutations in Postn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Postn	APN	3	54,281,149 (GRCm39)	missense	probably damaging	1.00
IGL00567:Postn	APN	3	54,291,944 (GRCm39)	missense	probably benign
IGL00742:Postn	APN	3	54,280,315 (GRCm39)	missense	possibly damaging	0.81
IGL00971:Postn	APN	3	54,276,697 (GRCm39)	missense	possibly damaging	0.88
IGL01105:Postn	APN	3	54,270,131 (GRCm39)	missense	probably damaging	1.00
IGL01609:Postn	APN	3	54,276,649 (GRCm39)	missense	probably damaging	0.99
IGL01878:Postn	APN	3	54,290,901 (GRCm39)	splice site	probably null
IGL01885:Postn	APN	3	54,283,455 (GRCm39)	unclassified	probably benign
IGL02040:Postn	APN	3	54,270,110 (GRCm39)	missense	probably benign
IGL02431:Postn	APN	3	54,282,517 (GRCm39)	missense	probably damaging	0.99
IGL02578:Postn	APN	3	54,284,625 (GRCm39)	missense	possibly damaging	0.93
IGL02943:Postn	APN	3	54,285,029 (GRCm39)	critical splice donor site	probably null
IGL03307:Postn	APN	3	54,282,548 (GRCm39)	missense	probably benign	0.32
sticklike	UTSW	3	54,279,527 (GRCm39)	missense	probably damaging	1.00
R0117:Postn	UTSW	3	54,290,902 (GRCm39)	splice site	probably benign
R0270:Postn	UTSW	3	54,291,971 (GRCm39)	missense	probably damaging	0.98
R0410:Postn	UTSW	3	54,292,698 (GRCm39)	missense	possibly damaging	0.93
R0548:Postn	UTSW	3	54,274,997 (GRCm39)	nonsense	probably null
R0734:Postn	UTSW	3	54,270,136 (GRCm39)	missense	probably damaging	1.00
R1648:Postn	UTSW	3	54,283,522 (GRCm39)	missense	probably damaging	1.00
R1796:Postn	UTSW	3	54,281,177 (GRCm39)	missense	probably damaging	1.00
R1823:Postn	UTSW	3	54,292,708 (GRCm39)	critical splice donor site	probably null
R1938:Postn	UTSW	3	54,285,033 (GRCm39)	splice site	probably null
R2311:Postn	UTSW	3	54,292,644 (GRCm39)	missense	probably damaging	0.98
R2566:Postn	UTSW	3	54,284,374 (GRCm39)	missense	probably damaging	0.97
R2938:Postn	UTSW	3	54,277,731 (GRCm39)	missense	probably damaging	1.00
R4105:Postn	UTSW	3	54,283,462 (GRCm39)	missense	probably damaging	1.00
R4394:Postn	UTSW	3	54,278,376 (GRCm39)	missense	probably damaging	1.00
R4620:Postn	UTSW	3	54,284,414 (GRCm39)	missense	probably damaging	1.00
R4628:Postn	UTSW	3	54,279,578 (GRCm39)	missense	probably damaging	1.00
R4697:Postn	UTSW	3	54,282,492 (GRCm39)	missense	probably damaging	1.00
R4709:Postn	UTSW	3	54,292,031 (GRCm39)	intron	probably benign
R4952:Postn	UTSW	3	54,297,736 (GRCm39)	utr 3 prime	probably benign
R5303:Postn	UTSW	3	54,285,018 (GRCm39)	missense	probably damaging	1.00
R5704:Postn	UTSW	3	54,279,527 (GRCm39)	missense	probably damaging	1.00
R5902:Postn	UTSW	3	54,279,510 (GRCm39)	missense	probably benign	0.03
R5914:Postn	UTSW	3	54,281,221 (GRCm39)	nonsense	probably null
R6032:Postn	UTSW	3	54,284,137 (GRCm39)	missense	possibly damaging	0.53
R6032:Postn	UTSW	3	54,284,137 (GRCm39)	missense	possibly damaging	0.53
R6101:Postn	UTSW	3	54,279,641 (GRCm39)	splice site	probably null
R6105:Postn	UTSW	3	54,279,641 (GRCm39)	splice site	probably null
R6334:Postn	UTSW	3	54,292,703 (GRCm39)	missense	probably benign
R7131:Postn	UTSW	3	54,270,056 (GRCm39)	missense	probably damaging	1.00
R7322:Postn	UTSW	3	54,277,701 (GRCm39)	missense	probably damaging	1.00
R7430:Postn	UTSW	3	54,277,623 (GRCm39)	missense	probably damaging	1.00
R7497:Postn	UTSW	3	54,270,091 (GRCm39)	missense	probably damaging	1.00
R8245:Postn	UTSW	3	54,283,468 (GRCm39)	missense	probably null	0.99
R8350:Postn	UTSW	3	54,277,679 (GRCm39)	missense	probably damaging	1.00
R8748:Postn	UTSW	3	54,296,760 (GRCm39)	missense	probably damaging	0.97
R9221:Postn	UTSW	3	54,282,515 (GRCm39)	missense	possibly damaging	0.79
R9301:Postn	UTSW	3	54,292,659 (GRCm39)	missense	probably benign	0.26
R9313:Postn	UTSW	3	54,273,336 (GRCm39)	missense	probably damaging	0.99
R9657:Postn	UTSW	3	54,290,820 (GRCm39)	missense	probably benign	0.04
RF018:Postn	UTSW	3	54,291,913 (GRCm39)	missense	probably damaging	0.96
X0004:Postn	UTSW	3	54,270,115 (GRCm39)	missense	probably damaging	1.00
X0022:Postn	UTSW	3	54,278,261 (GRCm39)	missense	probably benign	0.03
Z1088:Postn	UTSW	3	54,282,548 (GRCm39)	missense	probably benign	0.32

Posted On

2013-11-18