Incidental Mutation 'R3733:Ergic2'
| ID |
271086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ergic2
|
| Ensembl Gene |
ENSMUSG00000030304 |
| Gene Name |
ERGIC and golgi 2 |
| Synonyms |
1200009B18Rik, 4930572C01Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R3733 (G1)
|
| Quality Score |
224 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
148080816-148113886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 148104020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 79
(D79G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032446]
[ENSMUST00000126698]
[ENSMUST00000130242]
[ENSMUST00000136008]
|
| AlphaFold |
Q9CR89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032446
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032447
AA Change: D79G
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000032447
Gene: ENSMUSG00000030304
AA Change: D79G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ERGIC_N
|
12 |
105 |
1.5e-22 |
PFAM |
|
Pfam:COPIIcoated_ERV
|
158 |
300 |
2.7e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125469
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126698
AA Change: D79G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116551
Gene: ENSMUSG00000030304
AA Change: D79G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ERGIC_N
|
12 |
100 |
1.4e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132413
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136008
AA Change: D79G
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120456
Gene: ENSMUSG00000030304
AA Change: D79G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ERGIC_N
|
13 |
101 |
1.6e-26 |
PFAM |
|
Pfam:COPIIcoated_ERV
|
157 |
333 |
4.8e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150980
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203993
|
| Meta Mutation Damage Score |
0.8357 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Mice homozygous for an ENU-induced point mutation affecting the donor splice site of intron 5 exhibit swelling of the hind feet and tail. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
T |
19: 57,037,892 (GRCm39) |
|
probably null |
Het |
| Adgrl3 |
C |
A |
5: 81,942,793 (GRCm39) |
H1474Q |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,705,075 (GRCm39) |
I1578M |
probably damaging |
Het |
| Bcl7b |
A |
G |
5: 135,209,767 (GRCm39) |
T141A |
probably benign |
Het |
| Cfap97d1 |
C |
T |
11: 101,879,278 (GRCm39) |
Q17* |
probably null |
Het |
| Chrna3 |
T |
C |
9: 54,923,178 (GRCm39) |
K210R |
probably benign |
Het |
| Cpsf2 |
T |
C |
12: 101,953,567 (GRCm39) |
I199T |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,252 (GRCm39) |
D345G |
probably damaging |
Het |
| Cyp2s1 |
C |
T |
7: 25,503,379 (GRCm39) |
R424Q |
probably null |
Het |
| D1Pas1 |
C |
A |
1: 186,700,294 (GRCm39) |
S74R |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,818,582 (GRCm39) |
F197L |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,406,306 (GRCm39) |
V1019A |
possibly damaging |
Het |
| Fbxl21 |
T |
A |
13: 56,674,830 (GRCm39) |
H60Q |
probably benign |
Het |
| Fbxw7 |
A |
C |
3: 84,833,014 (GRCm39) |
K19Q |
possibly damaging |
Het |
| Gldn |
A |
G |
9: 54,245,946 (GRCm39) |
K499R |
possibly damaging |
Het |
| Gria4 |
C |
T |
9: 4,513,295 (GRCm39) |
M271I |
probably benign |
Het |
| Herc1 |
C |
T |
9: 66,352,922 (GRCm39) |
T2136I |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Iqcg |
G |
T |
16: 32,873,996 (GRCm39) |
|
probably benign |
Het |
| Itih2 |
A |
T |
2: 10,110,481 (GRCm39) |
F537I |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,284,198 (GRCm39) |
D533G |
probably damaging |
Het |
| Lag3 |
A |
T |
6: 124,887,103 (GRCm39) |
S155T |
probably benign |
Het |
| Lars1 |
T |
C |
18: 42,345,667 (GRCm39) |
E1003G |
probably benign |
Het |
| Layn |
T |
A |
9: 50,970,844 (GRCm39) |
N233I |
probably damaging |
Het |
| Lgi1 |
T |
C |
19: 38,294,694 (GRCm39) |
Y465H |
probably damaging |
Het |
| Lrig1 |
C |
T |
6: 94,588,557 (GRCm39) |
A531T |
possibly damaging |
Het |
| Mrps18b |
G |
A |
17: 36,221,759 (GRCm39) |
P97S |
probably damaging |
Het |
| Mtx2 |
C |
A |
2: 74,677,606 (GRCm39) |
A22E |
probably damaging |
Het |
| Nipal3 |
T |
C |
4: 135,191,157 (GRCm39) |
T325A |
probably damaging |
Het |
| Ola1 |
G |
C |
2: 72,987,204 (GRCm39) |
R143G |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,937,792 (GRCm39) |
T1834A |
probably benign |
Het |
| Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
| Pcdh18 |
T |
C |
3: 49,709,240 (GRCm39) |
S692G |
probably benign |
Het |
| Pkd2 |
G |
A |
5: 104,637,285 (GRCm39) |
|
probably null |
Het |
| Robo2 |
A |
C |
16: 73,717,635 (GRCm39) |
L1159W |
possibly damaging |
Het |
| Sfxn5 |
T |
C |
6: 85,276,258 (GRCm39) |
|
probably benign |
Het |
| Siah2 |
A |
G |
3: 58,583,671 (GRCm39) |
V205A |
probably damaging |
Het |
| Spindoc |
A |
C |
19: 7,351,666 (GRCm39) |
L202R |
probably damaging |
Het |
| Spock3 |
T |
A |
8: 63,798,733 (GRCm39) |
D251E |
probably damaging |
Het |
| Stk4 |
T |
A |
2: 163,930,828 (GRCm39) |
M143K |
probably benign |
Het |
| Trpc3 |
A |
T |
3: 36,692,708 (GRCm39) |
D761E |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Wapl |
G |
A |
14: 34,458,721 (GRCm39) |
V928I |
probably damaging |
Het |
| Zfand3 |
A |
G |
17: 30,411,630 (GRCm39) |
K130R |
probably benign |
Het |
|
| Other mutations in Ergic2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01083:Ergic2
|
APN |
6 |
148,096,769 (GRCm39) |
missense |
probably benign |
|
|
IGL02191:Ergic2
|
APN |
6 |
148,106,319 (GRCm39) |
missense |
probably null |
0.12 |
|
IGL02719:Ergic2
|
APN |
6 |
148,106,317 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02958:Ergic2
|
APN |
6 |
148,083,441 (GRCm39) |
makesense |
probably null |
|
|
R0389:Ergic2
|
UTSW |
6 |
148,084,700 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0416:Ergic2
|
UTSW |
6 |
148,084,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0727:Ergic2
|
UTSW |
6 |
148,100,898 (GRCm39) |
unclassified |
probably benign |
|
|
R1835:Ergic2
|
UTSW |
6 |
148,091,079 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1891:Ergic2
|
UTSW |
6 |
148,084,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1959:Ergic2
|
UTSW |
6 |
148,100,852 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2504:Ergic2
|
UTSW |
6 |
148,106,272 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3414:Ergic2
|
UTSW |
6 |
148,108,179 (GRCm39) |
splice site |
probably benign |
|
|
R3732:Ergic2
|
UTSW |
6 |
148,104,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Ergic2
|
UTSW |
6 |
148,104,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3734:Ergic2
|
UTSW |
6 |
148,104,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5002:Ergic2
|
UTSW |
6 |
148,085,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5083:Ergic2
|
UTSW |
6 |
148,097,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5088:Ergic2
|
UTSW |
6 |
148,084,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5850:Ergic2
|
UTSW |
6 |
148,084,605 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6541:Ergic2
|
UTSW |
6 |
148,084,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6652:Ergic2
|
UTSW |
6 |
148,091,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7073:Ergic2
|
UTSW |
6 |
148,096,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7167:Ergic2
|
UTSW |
6 |
148,108,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7275:Ergic2
|
UTSW |
6 |
148,096,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7299:Ergic2
|
UTSW |
6 |
148,089,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8732:Ergic2
|
UTSW |
6 |
148,102,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8864:Ergic2
|
UTSW |
6 |
148,083,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8948:Ergic2
|
UTSW |
6 |
148,104,005 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9437:Ergic2
|
UTSW |
6 |
148,097,562 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTGACTCTACACTGGAGAC -3'
(R):5'- TTGCAGTTAACAAAGGTGACTG -3'
Sequencing Primer
(F):5'- TGGAGACAGACTACCTAAAGCAC -3'
(R):5'- TGTCAGGCTGTTCACACAAAAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation