Incidental Mutation 'R5294:Peg3'
| ID |
405297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Peg3
|
| Ensembl Gene |
ENSMUSG00000002265 |
| Gene Name |
paternally expressed 3 |
| Synonyms |
Zfp102, Gcap4, End4, Pw1 |
| MMRRC Submission |
042877-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
6706891-6733430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 6720848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 19
(S19I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051209]
[ENSMUST00000143703]
[ENSMUST00000150182]
|
| AlphaFold |
Q3URU2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051209
AA Change: S19I
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000050750
Gene: ENSMUSG00000002265
AA Change: S19I
| 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 |
possibly damaging
Transcript: ENSMUST00000143703
AA Change: S19I
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122423
Gene: ENSMUSG00000002265
AA Change: S19I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150182
AA Change: S19I
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116161
Gene: ENSMUSG00000002265
AA Change: S19I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155910
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (70/72) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579C12Rik |
T |
C |
9: 89,034,056 (GRCm39) |
|
noncoding transcript |
Het |
| Acaca |
A |
G |
11: 84,282,345 (GRCm39) |
E2154G |
probably benign |
Het |
| Acacb |
T |
C |
5: 114,380,013 (GRCm39) |
F2056L |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,959,023 (GRCm39) |
|
probably benign |
Het |
| Amn1 |
T |
A |
6: 149,086,622 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
C |
A |
4: 133,418,366 (GRCm39) |
|
probably benign |
Het |
| Aste1 |
T |
A |
9: 105,279,904 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,649,496 (GRCm39) |
V495D |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,687,473 (GRCm39) |
H688L |
probably damaging |
Het |
| B3gnt8 |
T |
C |
7: 25,328,191 (GRCm39) |
L207P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,808,946 (GRCm39) |
H101R |
probably benign |
Het |
| Bicc1 |
G |
A |
10: 70,783,730 (GRCm39) |
T387M |
possibly damaging |
Het |
| Champ1 |
A |
C |
8: 13,928,981 (GRCm39) |
K380Q |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,438,005 (GRCm39) |
E523G |
probably benign |
Het |
| Cops6 |
G |
C |
5: 138,159,378 (GRCm39) |
|
probably benign |
Het |
| Cp |
G |
C |
3: 20,020,480 (GRCm39) |
V158L |
probably benign |
Het |
| Cyfip1 |
T |
A |
7: 55,523,231 (GRCm39) |
M52K |
possibly damaging |
Het |
| Dars1 |
A |
T |
1: 128,292,039 (GRCm39) |
F480I |
probably benign |
Het |
| Diaph1 |
C |
A |
18: 38,030,603 (GRCm39) |
E284* |
probably null |
Het |
| Diaph1 |
T |
C |
18: 38,030,633 (GRCm39) |
M274V |
unknown |
Het |
| Dock8 |
G |
A |
19: 25,038,517 (GRCm39) |
V68M |
probably benign |
Het |
| Elavl4 |
A |
G |
4: 110,068,627 (GRCm39) |
F247L |
possibly damaging |
Het |
| Emc10 |
C |
T |
7: 44,145,863 (GRCm39) |
|
probably benign |
Het |
| Fbxw16 |
T |
C |
9: 109,265,712 (GRCm39) |
D369G |
probably benign |
Het |
| Fgr |
A |
T |
4: 132,724,811 (GRCm39) |
D304V |
probably benign |
Het |
| Filip1l |
G |
A |
16: 57,390,399 (GRCm39) |
S91N |
possibly damaging |
Het |
| Haus8 |
A |
G |
8: 71,708,354 (GRCm39) |
S103P |
unknown |
Het |
| Hscb |
A |
G |
5: 110,982,658 (GRCm39) |
L143P |
probably damaging |
Het |
| Hsd11b2 |
A |
T |
8: 106,249,929 (GRCm39) |
M347L |
probably benign |
Het |
| Jrk |
C |
A |
15: 74,579,185 (GRCm39) |
E33D |
possibly damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,098,813 (GRCm39) |
Y123* |
probably null |
Het |
| Lrrc37 |
A |
G |
11: 103,507,057 (GRCm39) |
|
probably benign |
Het |
| Mis18bp1 |
A |
C |
12: 65,203,817 (GRCm39) |
M59R |
probably damaging |
Het |
| Mrps27 |
T |
C |
13: 99,546,381 (GRCm39) |
V260A |
probably damaging |
Het |
| Ncapg2 |
G |
T |
12: 116,391,414 (GRCm39) |
V488L |
possibly damaging |
Het |
| Nepn |
A |
T |
10: 52,276,896 (GRCm39) |
N211Y |
probably benign |
Het |
| Ntrk3 |
A |
T |
7: 78,167,254 (GRCm39) |
|
probably null |
Het |
| Or10x4 |
A |
T |
1: 174,218,791 (GRCm39) |
Y52F |
probably benign |
Het |
| Or11h23 |
A |
G |
14: 50,947,900 (GRCm39) |
T38A |
possibly damaging |
Het |
| Or11h23 |
A |
G |
14: 50,948,236 (GRCm39) |
I150V |
probably benign |
Het |
| Or52w1 |
C |
T |
7: 105,017,620 (GRCm39) |
T20I |
probably benign |
Het |
| Otud4 |
A |
T |
8: 80,399,521 (GRCm39) |
Q744L |
possibly damaging |
Het |
| P2ry14 |
A |
T |
3: 59,022,989 (GRCm39) |
I166N |
possibly damaging |
Het |
| Pak2 |
T |
A |
16: 31,840,648 (GRCm39) |
N478Y |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,616,400 (GRCm39) |
D202G |
probably benign |
Het |
| Pcdh7 |
C |
A |
5: 57,885,453 (GRCm39) |
|
probably null |
Het |
| Prim2 |
G |
T |
1: 33,707,974 (GRCm39) |
T40K |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,314,490 (GRCm39) |
F1737L |
probably benign |
Het |
| Rex2 |
A |
C |
4: 147,142,442 (GRCm39) |
N310T |
probably benign |
Het |
| Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
| Rnf39 |
C |
T |
17: 37,258,092 (GRCm39) |
A86V |
probably damaging |
Het |
| Ror1 |
A |
T |
4: 100,283,135 (GRCm39) |
N400I |
probably benign |
Het |
| Slc38a8 |
C |
T |
8: 120,221,028 (GRCm39) |
G177D |
probably damaging |
Het |
| Slc43a3 |
T |
C |
2: 84,786,654 (GRCm39) |
V445A |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,768,936 (GRCm39) |
N23S |
possibly damaging |
Het |
| Taf5l |
A |
G |
8: 124,734,957 (GRCm39) |
F74L |
probably benign |
Het |
| Trappc11 |
G |
C |
8: 47,983,766 (GRCm39) |
A42G |
possibly damaging |
Het |
| Trim30d |
T |
C |
7: 104,121,695 (GRCm39) |
K350R |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,750,375 (GRCm39) |
F93S |
probably damaging |
Het |
| Ube2c |
T |
C |
2: 164,619,110 (GRCm39) |
V161A |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,219,554 (GRCm39) |
E555G |
possibly damaging |
Het |
| Vmn2r55 |
T |
G |
7: 12,385,791 (GRCm39) |
S730R |
probably damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,692,570 (GRCm39) |
N124K |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,290,016 (GRCm39) |
C517* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,619,031 (GRCm39) |
I2845N |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Xpo5 |
T |
C |
17: 46,547,848 (GRCm39) |
V896A |
probably benign |
Het |
| Zfp2 |
T |
C |
11: 50,792,068 (GRCm39) |
|
probably benign |
Het |
| Zgrf1 |
G |
A |
3: 127,394,629 (GRCm39) |
M1328I |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,836,774 (GRCm39) |
D686G |
possibly damaging |
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 |
|
IGL03330:Peg3
|
APN |
7 |
6,713,412 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCAAATGCCATTCCATTGTAGG -3'
(R):5'- CGGGAGTAGATTGAAGCCAC -3'
Sequencing Primer
(F):5'- GGTGCCTGCTTTGATATACAAATGTC -3'
(R):5'- TTGAAGCCACTAAAGAGGGCTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation