Incidental Mutation 'R5002:Ergic2'
ID |
389992 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ergic2
|
Ensembl Gene |
ENSMUSG00000030304 |
Gene Name |
ERGIC and golgi 2 |
Synonyms |
1200009B18Rik, 4930572C01Rik |
MMRRC Submission |
042596-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.458)
|
Stock # |
R5002 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
148080816-148113886 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 148085656 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 281
(I281T)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032446]
[ENSMUST00000111607]
[ENSMUST00000136008]
[ENSMUST00000143282]
[ENSMUST00000204832]
|
AlphaFold |
Q9CR89 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032446
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000032447
AA Change: I281T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000032447 Gene: ENSMUSG00000030304 AA Change: I281T
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 |
probably benign
Transcript: ENSMUST00000111607
|
SMART Domains |
Protein: ENSMUSP00000107234 Gene: ENSMUSG00000030303
Domain | Start | End | E-Value | Type |
Pfam:Polysacc_synt_2
|
13 |
159 |
2.9e-8 |
PFAM |
Pfam:Epimerase
|
13 |
241 |
3.2e-10 |
PFAM |
Pfam:3Beta_HSD
|
14 |
167 |
4.2e-7 |
PFAM |
Pfam:NAD_binding_4
|
15 |
285 |
3.2e-73 |
PFAM |
Pfam:Sterile
|
355 |
448 |
1.2e-29 |
PFAM |
transmembrane domain
|
466 |
483 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126773
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136008
|
SMART Domains |
Protein: ENSMUSP00000120456 Gene: ENSMUSG00000030304
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 |
noncoding transcript
Transcript: ENSMUST00000203993
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203268
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149631
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204832
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
94% (44/47) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
A |
11: 109,852,623 (GRCm39) |
P736S |
probably damaging |
Het |
Apbb2 |
A |
G |
5: 66,470,668 (GRCm39) |
I523T |
possibly damaging |
Het |
Casq1 |
T |
A |
1: 172,040,945 (GRCm39) |
D281V |
possibly damaging |
Het |
Catsperb |
T |
C |
12: 101,486,813 (GRCm39) |
F447L |
probably benign |
Het |
Cenpe |
A |
T |
3: 134,952,842 (GRCm39) |
M1511L |
probably benign |
Het |
Cep128 |
T |
C |
12: 91,222,497 (GRCm39) |
|
probably null |
Het |
Col6a6 |
T |
C |
9: 105,663,292 (GRCm39) |
T82A |
probably benign |
Het |
Dna2 |
A |
G |
10: 62,786,621 (GRCm39) |
D123G |
probably damaging |
Het |
Fcgbp |
T |
A |
7: 27,785,528 (GRCm39) |
|
probably null |
Het |
Filip1l |
T |
C |
16: 57,391,466 (GRCm39) |
Y447H |
probably benign |
Het |
Flnb |
T |
A |
14: 7,945,882 (GRCm38) |
M2429K |
probably damaging |
Het |
Fn1 |
T |
A |
1: 71,668,887 (GRCm39) |
Q686L |
possibly damaging |
Het |
Gm10644 |
T |
C |
8: 84,660,216 (GRCm39) |
D43G |
possibly damaging |
Het |
Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
Gpx6 |
A |
G |
13: 21,497,858 (GRCm39) |
Y43C |
probably damaging |
Het |
Hhat |
A |
T |
1: 192,225,498 (GRCm39) |
F494I |
probably benign |
Het |
Itga9 |
C |
A |
9: 118,492,966 (GRCm39) |
S287* |
probably null |
Het |
Lrrk1 |
C |
A |
7: 65,982,111 (GRCm39) |
G177W |
probably damaging |
Het |
Ltbp4 |
GT |
G |
7: 27,027,110 (GRCm39) |
|
probably null |
Het |
Ms4a14 |
T |
C |
19: 11,281,653 (GRCm39) |
I302V |
probably benign |
Het |
Nepn |
A |
C |
10: 52,267,850 (GRCm39) |
M39L |
probably benign |
Het |
Nfil3 |
C |
A |
13: 53,122,712 (GRCm39) |
R64L |
probably damaging |
Het |
Ociad1 |
T |
C |
5: 73,467,659 (GRCm39) |
V199A |
possibly damaging |
Het |
Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
Or8k3b |
C |
A |
2: 86,520,429 (GRCm39) |
V297L |
possibly damaging |
Het |
Polk |
A |
G |
13: 96,625,752 (GRCm39) |
Y431H |
probably damaging |
Het |
Prss33 |
C |
T |
17: 24,054,332 (GRCm39) |
|
probably benign |
Het |
Semp2l2b |
G |
C |
10: 21,943,716 (GRCm39) |
P88R |
probably damaging |
Het |
Slc12a7 |
A |
G |
13: 73,911,896 (GRCm39) |
N4S |
possibly damaging |
Het |
Slc29a4 |
A |
T |
5: 142,704,501 (GRCm39) |
I348F |
probably damaging |
Het |
Smarce1 |
T |
C |
11: 99,115,889 (GRCm39) |
N44S |
probably damaging |
Het |
Spast |
C |
T |
17: 74,676,221 (GRCm39) |
Q344* |
probably null |
Het |
Stk11ip |
C |
A |
1: 75,509,187 (GRCm39) |
|
probably benign |
Het |
Tas2r131 |
T |
C |
6: 132,934,114 (GRCm39) |
I232V |
probably benign |
Het |
Tesk1 |
T |
C |
4: 43,444,573 (GRCm39) |
Y126H |
probably damaging |
Het |
Tmpo |
A |
G |
10: 90,999,976 (GRCm39) |
V164A |
possibly damaging |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Vwc2l |
T |
G |
1: 70,768,205 (GRCm39) |
C43G |
probably damaging |
Het |
Wnk1 |
G |
A |
6: 119,914,924 (GRCm39) |
T1626I |
probably benign |
Het |
Zpld2 |
T |
A |
4: 133,924,231 (GRCm39) |
N438I |
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 |
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 |
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'- ACTGGGCTTCCAAAACTGAG -3'
(R):5'- TATTGACAAACGCCTGAGAAAC -3'
Sequencing Primer
(F):5'- CTGGGCTTCCAAAACTGAGAGTAG -3'
(R):5'- CCTGAGAAACACAGAATAGGTCTAGC -3'
|
Posted On |
2016-06-06 |