Incidental Mutation 'R5850:Ergic2'
| ID |
454618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ergic2
|
| Ensembl Gene |
ENSMUSG00000030304 |
| Gene Name |
ERGIC and golgi 2 |
| Synonyms |
1200009B18Rik, 4930572C01Rik |
| MMRRC Submission |
043226-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R5850 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
148080816-148113886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 148084605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 34
(M34I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144886
(fasta)
|
| 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: 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 |
possibly damaging
Transcript: ENSMUST00000136008
AA Change: M309I
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120456
Gene: ENSMUSG00000030304
AA Change: M309I
| 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
AA Change: M65I
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000145143
Gene: ENSMUSG00000030304
AA Change: M65I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COPIIcoated_ERV
|
1 |
89 |
2.7e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149631
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000203268
AA Change: M129I
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204832
AA Change: M34I
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203993
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Abhd14a |
A |
C |
9: 106,317,548 (GRCm39) |
L225R |
probably damaging |
Het |
| Apbb1 |
A |
G |
7: 105,216,790 (GRCm39) |
S39P |
probably damaging |
Het |
| Apc |
T |
C |
18: 34,451,116 (GRCm39) |
S2637P |
possibly damaging |
Het |
| Apold1 |
T |
C |
6: 134,961,058 (GRCm39) |
F171L |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,587,049 (GRCm39) |
M967T |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,543,785 (GRCm39) |
|
probably null |
Het |
| Bcl2l15 |
T |
A |
3: 103,743,432 (GRCm39) |
V111D |
possibly damaging |
Het |
| Bsn |
A |
T |
9: 107,992,149 (GRCm39) |
M1201K |
probably damaging |
Het |
| Ccdc141 |
T |
A |
2: 76,859,747 (GRCm39) |
N965Y |
probably damaging |
Het |
| Cnn3 |
T |
C |
3: 121,245,577 (GRCm39) |
Y98H |
probably damaging |
Het |
| Cnot1 |
G |
A |
8: 96,460,775 (GRCm39) |
R117* |
probably null |
Het |
| Dlgap1 |
G |
A |
17: 71,094,087 (GRCm39) |
V803M |
probably damaging |
Het |
| Drd3 |
A |
C |
16: 43,638,695 (GRCm39) |
M299L |
probably benign |
Het |
| Ext2 |
A |
T |
2: 93,644,004 (GRCm39) |
D92E |
possibly damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,086,111 (GRCm39) |
|
probably benign |
Het |
| Ganab |
C |
T |
19: 8,889,071 (GRCm39) |
R591W |
probably damaging |
Het |
| Kdsr |
A |
T |
1: 106,683,172 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,401,099 (GRCm39) |
E813G |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,247,675 (GRCm39) |
T1621A |
probably benign |
Het |
| Nmnat1 |
G |
A |
4: 149,554,124 (GRCm39) |
Q139* |
probably null |
Het |
| Os9 |
TTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTC |
10: 126,934,348 (GRCm39) |
|
probably benign |
Het |
| Oxa1l |
T |
G |
14: 54,605,121 (GRCm39) |
V11G |
possibly damaging |
Het |
| Padi1 |
A |
G |
4: 140,542,141 (GRCm39) |
Y594H |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,903,667 (GRCm39) |
F327I |
probably benign |
Het |
| Prf1 |
G |
T |
10: 61,135,972 (GRCm39) |
A83S |
probably benign |
Het |
| Ptgs2 |
A |
G |
1: 149,981,127 (GRCm39) |
E470G |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc19a2 |
A |
G |
1: 164,091,025 (GRCm39) |
I278V |
probably benign |
Het |
| Smco1 |
A |
T |
16: 32,092,674 (GRCm39) |
N115I |
probably damaging |
Het |
| Smyd3 |
G |
A |
1: 178,871,420 (GRCm39) |
L320F |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,098,900 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 76,144,749 (GRCm39) |
D1566G |
probably damaging |
Het |
| Tpm2 |
T |
C |
4: 43,523,296 (GRCm39) |
D20G |
probably damaging |
Het |
| Ubap1l |
A |
G |
9: 65,281,045 (GRCm39) |
Y241C |
probably damaging |
Het |
| Usp15 |
A |
G |
10: 122,960,417 (GRCm39) |
|
probably null |
Het |
| Wdr45b |
A |
G |
11: 121,221,923 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
A |
G |
12: 98,745,414 (GRCm39) |
I468V |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
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'- AAATCAGATATCAGAACATGGCAGC -3'
(R):5'- TGTATGGTCCAGGGCAGTTC -3'
Sequencing Primer
(F):5'- TATCAGAACATGGCAGCTACTG -3'
(R):5'- GTCCAGGGCAGTTCATCCTATG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation