Incidental Mutation 'IGL02719:Ergic2'
ID |
304907 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02719
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
148080816-148113886 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 148106317 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 58
(T58A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120456
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032446]
[ENSMUST00000126698]
[ENSMUST00000130242]
[ENSMUST00000136008]
|
AlphaFold |
Q9CR89 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032446
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125469
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126698
AA Change: T58A
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000116551 Gene: ENSMUSG00000030304 AA Change: T58A
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 |
possibly damaging
Transcript: ENSMUST00000136008
AA Change: T58A
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000120456 Gene: ENSMUSG00000030304 AA Change: T58A
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: ENSMUST00000148437
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203993
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150980
|
Coding Region Coverage |
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
A |
G |
5: 3,632,150 (GRCm39) |
D160G |
probably damaging |
Het |
Aak1 |
A |
G |
6: 86,936,152 (GRCm39) |
|
probably benign |
Het |
Anp32e |
A |
G |
3: 95,845,224 (GRCm39) |
|
probably benign |
Het |
Aspscr1 |
T |
A |
11: 120,568,405 (GRCm39) |
L61Q |
probably damaging |
Het |
Btrc |
A |
G |
19: 45,491,589 (GRCm39) |
I89M |
probably damaging |
Het |
Ccdc175 |
G |
A |
12: 72,221,899 (GRCm39) |
T141M |
probably damaging |
Het |
Cep70 |
G |
A |
9: 99,157,775 (GRCm39) |
V225I |
probably damaging |
Het |
Cilk1 |
A |
G |
9: 78,047,301 (GRCm39) |
E67G |
probably damaging |
Het |
Col4a1 |
T |
C |
8: 11,281,950 (GRCm39) |
|
probably benign |
Het |
Cpne1 |
T |
C |
2: 155,920,137 (GRCm39) |
Y214C |
probably damaging |
Het |
Crtc3 |
T |
C |
7: 80,268,406 (GRCm39) |
|
probably null |
Het |
Cul2 |
C |
T |
18: 3,434,052 (GRCm39) |
A683V |
probably damaging |
Het |
Ddx47 |
A |
G |
6: 134,994,114 (GRCm39) |
N131D |
probably benign |
Het |
Dnah7b |
T |
G |
1: 46,138,768 (GRCm39) |
|
probably benign |
Het |
Dnai2 |
T |
C |
11: 114,642,737 (GRCm39) |
L446P |
probably damaging |
Het |
Erlin2 |
A |
G |
8: 27,519,703 (GRCm39) |
|
probably benign |
Het |
Fermt2 |
T |
C |
14: 45,742,113 (GRCm39) |
T78A |
probably damaging |
Het |
Flg2 |
G |
T |
3: 93,127,438 (GRCm39) |
G97* |
probably null |
Het |
Gm7356 |
A |
G |
17: 14,221,537 (GRCm39) |
I164T |
probably damaging |
Het |
Gucy1a2 |
T |
A |
9: 3,894,719 (GRCm39) |
|
probably benign |
Het |
Heatr5b |
C |
T |
17: 79,122,969 (GRCm39) |
R670H |
probably damaging |
Het |
Hspa4l |
T |
C |
3: 40,727,090 (GRCm39) |
V476A |
possibly damaging |
Het |
Itpkc |
A |
T |
7: 26,927,475 (GRCm39) |
D146E |
possibly damaging |
Het |
Kcnk3 |
T |
C |
5: 30,779,324 (GRCm39) |
F125L |
probably damaging |
Het |
Kif12 |
T |
A |
4: 63,086,033 (GRCm39) |
M411L |
probably benign |
Het |
Krtap24-1 |
T |
C |
16: 88,409,094 (GRCm39) |
S11G |
probably benign |
Het |
Lilra6 |
A |
T |
7: 3,915,991 (GRCm39) |
H289Q |
possibly damaging |
Het |
Musk |
A |
C |
4: 58,356,496 (GRCm39) |
N469H |
probably benign |
Het |
Myom1 |
A |
G |
17: 71,413,349 (GRCm39) |
|
probably benign |
Het |
Nagpa |
A |
G |
16: 5,019,357 (GRCm39) |
V46A |
possibly damaging |
Het |
Or4k37 |
T |
A |
2: 111,159,590 (GRCm39) |
Y275* |
probably null |
Het |
Or5h25 |
T |
A |
16: 58,930,536 (GRCm39) |
T146S |
probably benign |
Het |
Or8g17 |
T |
C |
9: 38,930,312 (GRCm39) |
N175S |
probably benign |
Het |
Parp6 |
T |
A |
9: 59,538,021 (GRCm39) |
V222E |
probably benign |
Het |
Pde3b |
T |
A |
7: 114,105,483 (GRCm39) |
S472T |
probably damaging |
Het |
Peak1 |
A |
G |
9: 56,134,490 (GRCm39) |
S1314P |
probably damaging |
Het |
Pgc |
A |
G |
17: 48,039,792 (GRCm39) |
Y62C |
probably damaging |
Het |
Pitpnm2 |
A |
G |
5: 124,278,665 (GRCm39) |
C189R |
probably damaging |
Het |
Pla2g15 |
G |
T |
8: 106,886,828 (GRCm39) |
Q106H |
probably benign |
Het |
Pla2g4c |
T |
A |
7: 13,064,019 (GRCm39) |
S93T |
probably damaging |
Het |
Rbks |
G |
T |
5: 31,809,145 (GRCm39) |
|
probably benign |
Het |
Retsat |
A |
G |
6: 72,580,642 (GRCm39) |
T207A |
possibly damaging |
Het |
Slc25a32 |
A |
G |
15: 38,963,300 (GRCm39) |
Y174H |
probably benign |
Het |
Slc35f2 |
T |
A |
9: 53,717,026 (GRCm39) |
|
probably benign |
Het |
Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
Sos2 |
A |
G |
12: 69,663,958 (GRCm39) |
Y476H |
probably benign |
Het |
Ssh2 |
A |
T |
11: 77,316,413 (GRCm39) |
N296I |
probably damaging |
Het |
Sspo |
G |
T |
6: 48,459,601 (GRCm39) |
R3320L |
probably benign |
Het |
Synj2 |
A |
G |
17: 6,047,192 (GRCm39) |
I166V |
probably benign |
Het |
Tpp2 |
T |
C |
1: 43,979,391 (GRCm39) |
V96A |
probably benign |
Het |
Vmn2r3 |
A |
T |
3: 64,183,031 (GRCm39) |
W223R |
probably damaging |
Het |
Wdr17 |
T |
C |
8: 55,146,089 (GRCm39) |
|
probably null |
Het |
Zfr2 |
T |
A |
10: 81,080,546 (GRCm39) |
C407S |
probably damaging |
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 |
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 |
R3733: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 |
|
Posted On |
2015-04-16 |