Incidental Mutation 'R6652:Ergic2'
| ID |
528090 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ergic2
|
| Ensembl Gene |
ENSMUSG00000030304 |
| Gene Name |
ERGIC and golgi 2 |
| Synonyms |
1200009B18Rik, 4930572C01Rik |
| MMRRC Submission |
044773-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R6652 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
148080816-148113886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 148091079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 211
(Y211C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032446]
[ENSMUST00000130242]
[ENSMUST00000136008]
[ENSMUST00000143282]
|
| AlphaFold |
Q9CR89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032446
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126773
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134574
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136008
AA Change: Y211C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120456
Gene: ENSMUSG00000030304
AA Change: Y211C
| 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: ENSMUST00000140311
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143282
|
| SMART Domains |
Protein: ENSMUSP00000145143
Gene: ENSMUSG00000030304
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COPIIcoated_ERV
|
1 |
89 |
2.7e-14 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000203268
AA Change: Y41C
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149631
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (42/42) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,846,164 (GRCm39) |
D605G |
probably damaging |
Het |
| Cfh |
A |
T |
1: 140,071,806 (GRCm39) |
I294N |
probably benign |
Het |
| Clk3 |
A |
G |
9: 57,669,078 (GRCm39) |
S49P |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,229,403 (GRCm39) |
V1895A |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,229,547 (GRCm39) |
D1847G |
probably damaging |
Het |
| Cwf19l1 |
T |
C |
19: 44,103,138 (GRCm39) |
D359G |
probably benign |
Het |
| Dag1 |
A |
T |
9: 108,086,289 (GRCm39) |
M284K |
probably damaging |
Het |
| Espnl |
A |
C |
1: 91,272,421 (GRCm39) |
I594L |
probably benign |
Het |
| Fam193b |
A |
G |
13: 55,690,603 (GRCm39) |
S226P |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,143,088 (GRCm39) |
I4254L |
probably benign |
Het |
| Fhdc1 |
T |
C |
3: 84,371,631 (GRCm39) |
Y108C |
probably damaging |
Het |
| Fut9 |
G |
C |
4: 25,620,619 (GRCm39) |
T65S |
probably benign |
Het |
| Gm9507 |
A |
T |
10: 77,647,493 (GRCm39) |
|
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Grap2 |
A |
T |
15: 80,532,723 (GRCm39) |
N297Y |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,891,609 (GRCm39) |
F2302S |
probably damaging |
Het |
| Ighv1-81 |
T |
A |
12: 115,884,051 (GRCm39) |
I67F |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,060,059 (GRCm39) |
|
probably null |
Het |
| Kti12 |
T |
A |
4: 108,705,730 (GRCm39) |
S215T |
probably benign |
Het |
| Mc1r |
G |
A |
8: 124,134,370 (GRCm39) |
G41D |
probably damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,878,105 (GRCm39) |
Y129C |
probably damaging |
Het |
| Mthfsd |
A |
T |
8: 121,825,560 (GRCm39) |
L337Q |
probably damaging |
Het |
| Musk |
C |
T |
4: 58,368,977 (GRCm39) |
A629V |
probably damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,364,955 (GRCm39) |
M250K |
probably benign |
Het |
| Ncapd2 |
G |
A |
6: 125,163,233 (GRCm39) |
H92Y |
probably benign |
Het |
| Or4e5 |
C |
T |
14: 52,728,250 (GRCm39) |
R57Q |
probably benign |
Het |
| Or6y1 |
G |
A |
1: 174,276,627 (GRCm39) |
C146Y |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,063,974 (GRCm39) |
V2100E |
probably damaging |
Het |
| Prss37 |
C |
A |
6: 40,496,090 (GRCm39) |
|
probably benign |
Het |
| Sebox |
A |
T |
11: 78,394,631 (GRCm39) |
E32V |
probably damaging |
Het |
| Senp7 |
C |
A |
16: 55,944,257 (GRCm39) |
Q194K |
probably benign |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Spart |
G |
A |
3: 55,032,248 (GRCm39) |
E361K |
probably benign |
Het |
| Stn1 |
T |
C |
19: 47,496,017 (GRCm39) |
T334A |
probably benign |
Het |
| Stoml1 |
A |
G |
9: 58,164,017 (GRCm39) |
D112G |
probably damaging |
Het |
| Thap2 |
T |
A |
10: 115,212,441 (GRCm39) |
D28V |
probably damaging |
Het |
| Ubap2 |
A |
T |
4: 41,196,743 (GRCm39) |
N872K |
possibly damaging |
Het |
| Vezt |
A |
G |
10: 93,806,141 (GRCm39) |
F757L |
probably damaging |
Het |
| Vmn1r204 |
T |
C |
13: 22,740,573 (GRCm39) |
I68T |
probably damaging |
Het |
| Wnt10a |
A |
G |
1: 74,842,613 (GRCm39) |
|
probably null |
Het |
| Yipf7 |
A |
G |
5: 69,698,504 (GRCm39) |
M1T |
probably null |
Het |
| Zdhhc19 |
T |
C |
16: 32,316,047 (GRCm39) |
F48S |
probably damaging |
Het |
| Zfp317 |
C |
T |
9: 19,558,335 (GRCm39) |
T183I |
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 |
|
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 |
|
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 |
|
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'- ATCTGCCACTTAGAGACTACAC -3'
(R):5'- AGAAGGTTCTATGTTTTGGGCAAAG -3'
Sequencing Primer
(F):5'- TTAGAGACTACACACAACAGTGCCG -3'
(R):5'- GAGGCAGCATTATCCTTATTGTATAC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation