Incidental Mutation 'R5083:Ergic2'
| ID |
387251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ergic2
|
| Ensembl Gene |
ENSMUSG00000030304 |
| Gene Name |
ERGIC and golgi 2 |
| Synonyms |
1200009B18Rik, 4930572C01Rik |
| MMRRC Submission |
042672-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R5083 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
148080816-148113886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 148097512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 154
(T154A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032446]
[ENSMUST00000130242]
[ENSMUST00000136008]
|
| AlphaFold |
Q9CR89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032446
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032447
AA Change: T154A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000032447
Gene: ENSMUSG00000030304
AA Change: T154A
| 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 |
noncoding transcript
Transcript: ENSMUST00000126773
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134574
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136008
AA Change: T154A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000120456
Gene: ENSMUSG00000030304
AA Change: T154A
| 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 |
noncoding transcript
Transcript: ENSMUST00000145162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203993
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203268
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148437
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
C |
T |
17: 48,473,558 (GRCm39) |
V120M |
possibly damaging |
Het |
| Abca6 |
T |
C |
11: 110,109,793 (GRCm39) |
D646G |
probably damaging |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,364,293 (GRCm39) |
T554A |
possibly damaging |
Het |
| Atp2a3 |
G |
T |
11: 72,873,652 (GRCm39) |
V824L |
probably null |
Het |
| Bet1 |
T |
C |
6: 4,077,895 (GRCm39) |
I115V |
possibly damaging |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cfap65 |
A |
G |
1: 74,945,600 (GRCm39) |
S1373P |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,711,002 (GRCm39) |
L353P |
probably damaging |
Het |
| Chil3 |
C |
A |
3: 106,071,405 (GRCm39) |
|
probably null |
Het |
| Comp |
C |
T |
8: 70,833,950 (GRCm39) |
T655M |
probably damaging |
Het |
| Dctd |
T |
C |
8: 48,564,751 (GRCm39) |
Y18H |
probably damaging |
Het |
| Ddx39b |
G |
A |
17: 35,472,005 (GRCm39) |
G348D |
possibly damaging |
Het |
| Dhx36 |
A |
T |
3: 62,379,420 (GRCm39) |
S889R |
probably benign |
Het |
| Dtx2 |
T |
C |
5: 136,041,044 (GRCm39) |
Y150H |
probably damaging |
Het |
| Epx |
A |
G |
11: 87,763,506 (GRCm39) |
F238S |
probably damaging |
Het |
| Esco1 |
A |
G |
18: 10,594,734 (GRCm39) |
I184T |
probably benign |
Het |
| Esf1 |
G |
T |
2: 139,998,991 (GRCm39) |
A495E |
possibly damaging |
Het |
| Esf1 |
T |
C |
2: 140,000,499 (GRCm39) |
Y429C |
possibly damaging |
Het |
| Fcho1 |
C |
A |
8: 72,169,820 (GRCm39) |
R101L |
probably benign |
Het |
| Foxn4 |
T |
A |
5: 114,394,988 (GRCm39) |
D313V |
probably damaging |
Het |
| Gm11568 |
T |
C |
11: 99,748,798 (GRCm39) |
M1T |
probably null |
Het |
| Gphn |
T |
A |
12: 78,670,063 (GRCm39) |
|
probably null |
Het |
| Grid2 |
C |
T |
6: 64,297,136 (GRCm39) |
Q500* |
probably null |
Het |
| Igsf10 |
A |
G |
3: 59,233,694 (GRCm39) |
S1680P |
probably damaging |
Het |
| Ints12 |
T |
C |
3: 132,806,538 (GRCm39) |
M155T |
possibly damaging |
Het |
| Invs |
A |
T |
4: 48,396,307 (GRCm39) |
M327L |
possibly damaging |
Het |
| Kdm3a |
T |
C |
6: 71,598,346 (GRCm39) |
E180G |
probably damaging |
Het |
| Mgat3 |
G |
A |
15: 80,095,499 (GRCm39) |
V109M |
possibly damaging |
Het |
| Mrgprb3 |
A |
G |
7: 48,292,762 (GRCm39) |
V263A |
probably benign |
Het |
| Mroh7 |
A |
T |
4: 106,547,515 (GRCm39) |
V1109D |
probably benign |
Het |
| Myo15b |
A |
T |
11: 115,757,482 (GRCm39) |
T1111S |
probably benign |
Het |
| Myo19 |
G |
T |
11: 84,794,037 (GRCm39) |
A654S |
possibly damaging |
Het |
| Mypn |
A |
T |
10: 62,954,307 (GRCm39) |
V1224D |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,560,706 (GRCm39) |
|
probably null |
Het |
| Or2a52 |
G |
T |
6: 43,144,273 (GRCm39) |
A94S |
probably benign |
Het |
| Or52e7 |
A |
T |
7: 104,684,618 (GRCm39) |
Y71F |
probably damaging |
Het |
| Or8c10 |
G |
A |
9: 38,279,358 (GRCm39) |
C172Y |
possibly damaging |
Het |
| Pdcd2 |
A |
G |
17: 15,743,084 (GRCm39) |
I247T |
possibly damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,941,636 (GRCm39) |
N1571K |
probably damaging |
Het |
| Plagl2 |
T |
C |
2: 153,077,964 (GRCm39) |
T6A |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,040,037 (GRCm39) |
Y318F |
possibly damaging |
Het |
| Sdccag8 |
C |
A |
1: 176,652,458 (GRCm39) |
H70N |
probably damaging |
Het |
| Skint1 |
A |
G |
4: 111,886,630 (GRCm39) |
R359G |
probably benign |
Het |
| Slc44a5 |
A |
T |
3: 153,953,424 (GRCm39) |
I269L |
probably benign |
Het |
| Slfn10-ps |
T |
A |
11: 82,921,341 (GRCm39) |
|
noncoding transcript |
Het |
| Suclg1 |
C |
A |
6: 73,240,963 (GRCm39) |
T164K |
probably benign |
Het |
| Tgds |
C |
A |
14: 118,353,491 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,643,877 (GRCm39) |
D13117G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,701,081 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,483,671 (GRCm39) |
I843N |
possibly damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,893,392 (GRCm39) |
Y582* |
probably null |
Het |
| Vps33b |
G |
T |
7: 79,924,389 (GRCm39) |
K65N |
probably damaging |
Het |
| Zfp1010 |
A |
G |
2: 176,957,364 (GRCm39) |
F45L |
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 |
|
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'- AGGTATACAGTCCTACAGTTTGTTC -3'
(R):5'- CGTCGTAAATACATGGCTCGTC -3'
Sequencing Primer
(F):5'- ACAGTCCTACAGTTTGTTCTTAAAC -3'
(R):5'- CATGGCTCGTCTAATTCAGAAGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation