Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03330:Peg3'

416845

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Peg3

Ensembl Gene

ENSMUSG00000002265

Gene Name

paternally expressed 3

Synonyms

Zfp102, Gcap4, End4, Pw1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03330

Quality Score

Status

Chromosome

Chromosomal Location

6706891-6733430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 6713412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 603 (N603K)

Ref Sequence

ENSEMBL: ENSMUSP00000050750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051209] [ENSMUST00000143703] [ENSMUST00000150182]

AlphaFold

Q3URU2

Predicted Effect

probably damaging
Transcript: ENSMUST00000051209
AA Change: N603K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050750
Gene: ENSMUSG00000002265
AA Change: N603K

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
low complexity region	213	221	N/A	INTRINSIC
ZnF_C2H2	325	347	7.26e-3	SMART
ZnF_C2H2	378	400	6.88e-4	SMART
ZnF_C2H2	436	458	2.95e-3	SMART
low complexity region	464	496	N/A	INTRINSIC
ZnF_C2H2	520	542	5.99e-4	SMART
low complexity region	691	698	N/A	INTRINSIC
ZnF_C2H2	850	872	2.99e-4	SMART
ZnF_C2H2	1091	1113	2.05e-2	SMART
ZnF_C2H2	1147	1169	1.04e-3	SMART
ZnF_C2H2	1209	1231	1.38e-3	SMART
ZnF_C2H2	1266	1289	1.89e-1	SMART
ZnF_C2H2	1317	1339	1.57e2	SMART
low complexity region	1373	1419	N/A	INTRINSIC
low complexity region	1440	1486	N/A	INTRINSIC
ZnF_C2H2	1488	1510	2.2e-2	SMART
ZnF_C2H2	1547	1569	1.38e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143703

SMART Domains

Protein: ENSMUSP00000122423
Gene: ENSMUSG00000002265

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150182

SMART Domains

Protein: ENSMUSP00000116161
Gene: ENSMUSG00000002265

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In human, ZIM2 and PEG3 are treated as two distinct genes though they share multiple 5' exons and a common promoter and both genes are paternally expressed (PMID:15203203). Alternative splicing events connect their shared 5' exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. In contrast, in other mammals ZIM2 does not undergo imprinting and, in mouse, cow, and likely other mammals as well, the ZIM2 and PEG3 genes do not share exons. Human PEG3 protein belongs to the Kruppel C2H2-type zinc finger protein family. PEG3 may play a role in cell proliferation and p53-mediated apoptosis. PEG3 has also shown tumor suppressor activity and tumorigenesis in glioma and ovarian cells. Alternative splicing of this PEG3 gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2009]
PHENOTYPE: Heterozygous mutant females exhibit growth retardation, impaired maternal behavior and diminished milk ejection, and fewer oxytocin neurons. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(1) Gene trapped(3)

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,050,254 (GRCm39)	I837V	probably damaging	Het
Actr2	A	G	11: 20,041,330 (GRCm39)	V138A	probably benign	Het
Adam30	G	A	3: 98,069,772 (GRCm39)	C535Y	probably damaging	Het
Bcor	G	A	X: 11,925,110 (GRCm39)	T162I	possibly damaging	Het
Catsperd	C	A	17: 56,939,316 (GRCm39)	N48K	possibly damaging	Het
Ccr2	T	C	9: 123,905,996 (GRCm39)	I92T	probably damaging	Het
Cp	A	G	3: 20,020,599 (GRCm39)	I197M	probably damaging	Het
Cpne3	T	A	4: 19,553,774 (GRCm39)	T86S	possibly damaging	Het
Dnm3	A	T	1: 162,148,560 (GRCm39)	D270E	probably benign	Het
Enpp1	C	T	10: 24,540,804 (GRCm39)		probably benign	Het
Ephx1	A	G	1: 180,827,371 (GRCm39)	V94A	possibly damaging	Het
Fbxw25	T	C	9: 109,474,307 (GRCm39)	M448V	probably benign	Het
Fhl2	A	G	1: 43,192,351 (GRCm39)	L14P	probably damaging	Het
Gabra4	T	C	5: 71,798,407 (GRCm39)	R191G	probably null	Het
Gtpbp6	T	C	5: 110,254,929 (GRCm39)	T151A	possibly damaging	Het
Lars1	T	A	18: 42,353,009 (GRCm39)	M803L	probably benign	Het
Myc	A	G	15: 61,859,998 (GRCm39)	T224A	probably benign	Het
Noxa1	T	A	2: 24,980,526 (GRCm39)	D161V	possibly damaging	Het
Or2w3b	A	C	11: 58,623,745 (GRCm39)	L82R	probably damaging	Het
Or4l1	C	T	14: 50,166,678 (GRCm39)	G108R	probably damaging	Het
Or8g52	C	T	9: 39,630,784 (GRCm39)	T87I	probably benign	Het
Rhox4c	G	T	X: 36,662,181 (GRCm39)	G15V	probably benign	Het
Sgcb	T	A	5: 73,797,212 (GRCm39)	S183C	probably damaging	Het
Slc6a19	T	A	13: 73,837,679 (GRCm39)	I239F	possibly damaging	Het
Socs7	T	C	11: 97,269,378 (GRCm39)	Y399H	probably damaging	Het
Stc2	T	C	11: 31,319,804 (GRCm39)	D20G	probably benign	Het
Tmem184b	A	T	15: 79,254,179 (GRCm39)		probably null	Het
Tpo	A	G	12: 30,153,500 (GRCm39)	S285P	probably damaging	Het
Vmn2r27	G	T	6: 124,207,139 (GRCm39)	Y167*	probably null	Het

Other mutations in Peg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Peg3	APN	7	6,713,273 (GRCm39)	missense	probably benign	0.09
IGL01410:Peg3	APN	7	6,710,624 (GRCm39)	missense	probably benign	0.04
IGL01415:Peg3	APN	7	6,714,652 (GRCm39)	missense	probably damaging	0.99
IGL02073:Peg3	APN	7	6,714,001 (GRCm39)	missense	probably damaging	1.00
IGL02193:Peg3	APN	7	6,714,927 (GRCm39)	missense	probably damaging	1.00
IGL02212:Peg3	APN	7	6,714,415 (GRCm39)	missense	probably benign	0.41
IGL02215:Peg3	APN	7	6,712,010 (GRCm39)	missense	probably benign	0.00
IGL02407:Peg3	APN	7	6,710,635 (GRCm39)	missense	probably damaging	0.99
IGL02586:Peg3	APN	7	6,713,068 (GRCm39)	missense	probably benign
IGL02673:Peg3	APN	7	6,713,413 (GRCm39)	missense	probably damaging	1.00
IGL02935:Peg3	APN	7	6,714,128 (GRCm39)	missense	probably damaging	1.00
IGL03277:Peg3	APN	7	6,714,673 (GRCm39)	missense	probably damaging	1.00
IGL03393:Peg3	APN	7	6,710,648 (GRCm39)	missense	probably damaging	0.99
R0049:Peg3	UTSW	7	6,714,672 (GRCm39)	missense	possibly damaging	0.85
R0049:Peg3	UTSW	7	6,714,672 (GRCm39)	missense	possibly damaging	0.85
R0518:Peg3	UTSW	7	6,714,427 (GRCm39)	missense	probably damaging	1.00
R0521:Peg3	UTSW	7	6,714,427 (GRCm39)	missense	probably damaging	1.00
R1477:Peg3	UTSW	7	6,719,141 (GRCm39)	missense	probably damaging	1.00
R1716:Peg3	UTSW	7	6,710,780 (GRCm39)	missense	possibly damaging	0.93
R1721:Peg3	UTSW	7	6,712,900 (GRCm39)	missense	possibly damaging	0.92
R1732:Peg3	UTSW	7	6,712,084 (GRCm39)	missense	possibly damaging	0.72
R2051:Peg3	UTSW	7	6,715,720 (GRCm39)	missense	probably damaging	0.96
R2288:Peg3	UTSW	7	6,712,114 (GRCm39)	missense	probably damaging	0.96
R3606:Peg3	UTSW	7	6,711,508 (GRCm39)	missense	probably damaging	1.00
R5075:Peg3	UTSW	7	6,711,419 (GRCm39)	missense	probably damaging	1.00
R5076:Peg3	UTSW	7	6,711,419 (GRCm39)	missense	probably damaging	1.00
R5084:Peg3	UTSW	7	6,710,848 (GRCm39)	missense	probably damaging	1.00
R5097:Peg3	UTSW	7	6,713,026 (GRCm39)	missense	probably damaging	0.99
R5121:Peg3	UTSW	7	6,713,288 (GRCm39)	missense	probably benign	0.20
R5141:Peg3	UTSW	7	6,712,381 (GRCm39)	missense	probably benign	0.03
R5292:Peg3	UTSW	7	6,711,259 (GRCm39)	missense	probably damaging	1.00
R5294:Peg3	UTSW	7	6,720,848 (GRCm39)	missense	possibly damaging	0.88
R5342:Peg3	UTSW	7	6,712,969 (GRCm39)	missense	probably damaging	1.00
R5415:Peg3	UTSW	7	6,711,628 (GRCm39)	missense	probably benign
R5906:Peg3	UTSW	7	6,720,854 (GRCm39)	missense	probably damaging	0.99
R6056:Peg3	UTSW	7	6,712,570 (GRCm39)	missense	probably damaging	1.00
R6259:Peg3	UTSW	7	6,712,810 (GRCm39)	missense	probably damaging	0.99
R6529:Peg3	UTSW	7	6,711,071 (GRCm39)	missense	probably damaging	1.00
R6631:Peg3	UTSW	7	6,712,069 (GRCm39)	missense	possibly damaging	0.72
R6855:Peg3	UTSW	7	6,711,797 (GRCm39)	missense	probably benign	0.13
R6861:Peg3	UTSW	7	6,714,385 (GRCm39)	nonsense	probably null
R6864:Peg3	UTSW	7	6,715,761 (GRCm39)	missense	probably damaging	1.00
R6892:Peg3	UTSW	7	6,711,898 (GRCm39)	missense	possibly damaging	0.58
R7018:Peg3	UTSW	7	6,711,838 (GRCm39)	missense	possibly damaging	0.72
R7039:Peg3	UTSW	7	6,720,858 (GRCm39)	missense	probably damaging	0.99
R7066:Peg3	UTSW	7	6,711,856 (GRCm39)	missense	probably damaging	1.00
R7117:Peg3	UTSW	7	6,712,167 (GRCm39)	unclassified	probably benign
R7133:Peg3	UTSW	7	6,711,944 (GRCm39)	missense	probably damaging	1.00
R7493:Peg3	UTSW	7	6,712,723 (GRCm39)	missense	probably damaging	1.00
R7539:Peg3	UTSW	7	6,711,167 (GRCm39)	missense	probably benign	0.00
R7642:Peg3	UTSW	7	6,712,167 (GRCm39)	unclassified	probably benign
R7646:Peg3	UTSW	7	6,712,221 (GRCm39)	missense	probably benign
R7658:Peg3	UTSW	7	6,712,609 (GRCm39)	missense	probably damaging	1.00
R7846:Peg3	UTSW	7	6,713,650 (GRCm39)	missense	probably damaging	1.00
R7853:Peg3	UTSW	7	6,711,839 (GRCm39)	missense	possibly damaging	0.72
R7903:Peg3	UTSW	7	6,712,167 (GRCm39)	unclassified	probably benign
R7913:Peg3	UTSW	7	6,712,167 (GRCm39)	unclassified	probably benign
R7948:Peg3	UTSW	7	6,711,781 (GRCm39)	missense	probably damaging	1.00
R8219:Peg3	UTSW	7	6,711,364 (GRCm39)	missense	probably benign	0.00
R8385:Peg3	UTSW	7	6,711,082 (GRCm39)	missense	probably damaging	1.00
R8672:Peg3	UTSW	7	6,711,523 (GRCm39)	missense	possibly damaging	0.62
R9133:Peg3	UTSW	7	6,712,167 (GRCm39)	unclassified	probably benign
R9209:Peg3	UTSW	7	6,711,226 (GRCm39)	missense	possibly damaging	0.48
R9457:Peg3	UTSW	7	6,710,998 (GRCm39)	missense	probably damaging	0.99
R9518:Peg3	UTSW	7	6,714,280 (GRCm39)	missense	probably benign	0.00
R9519:Peg3	UTSW	7	6,714,394 (GRCm39)	missense	probably benign	0.00
R9599:Peg3	UTSW	7	6,714,723 (GRCm39)	missense	probably damaging	0.97
RF039:Peg3	UTSW	7	6,712,167 (GRCm39)	unclassified	probably benign
YA93:Peg3	UTSW	7	6,714,646 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02