Incidental Mutation 'R7274:Mia2'
| ID |
565470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mia2
|
| Ensembl Gene |
ENSMUSG00000021000 |
| Gene Name |
MIA SH3 domain ER export factor 2 |
| Synonyms |
MEA6, Mgea, Mgea6, D12Bwg0579e, Ctage5 |
| MMRRC Submission |
067851-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R7274 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
59142368-59237006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59154905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 206
(E206G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021384]
[ENSMUST00000219140]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021384
AA Change: E206G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021384
Gene: ENSMUSG00000021000
AA Change: E206G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SH3
|
42 |
100 |
4.03e-2 |
SMART |
|
low complexity region
|
288 |
297 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219140
AA Change: E207G
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein that is involved in endoplasmic reticulum-to-Golgi trafficking and regulation of cholesterol metabolism. Three major classes of transcripts are generated from this gene- melanoma inhibitory activity 2-specific transcripts, cTAGE family member 5-specific transcripts and transcripts that include exons from both these transcript species. Additionally, alternative splicing in these transcripts results in multiple transcript variants encoding diverse isoforms. A mutation in this gene (couch-potato or cpto) may result in low levels of plasma cholesterol and triglycerides. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit decreased serum levels of cholesterol, HDL cholesterol, triglyceride, and VLDL triglyceride. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1190005I06Rik |
T |
C |
8: 121,338,005 (GRCm39) |
S69G |
possibly damaging |
Het |
| Alg12 |
G |
A |
15: 88,690,910 (GRCm39) |
S337F |
probably damaging |
Het |
| Bcl11a |
T |
C |
11: 24,113,985 (GRCm39) |
S443P |
probably damaging |
Het |
| C1qtnf4 |
T |
C |
2: 90,719,885 (GRCm39) |
Y53H |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,864,600 (GRCm39) |
E454V |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,597,811 (GRCm39) |
F1761S |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,261,023 (GRCm39) |
I1344F |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,307,235 (GRCm39) |
N33D |
probably benign |
Het |
| Cdh17 |
C |
T |
4: 11,783,174 (GRCm39) |
Q172* |
probably null |
Het |
| Chrna2 |
A |
G |
14: 66,386,675 (GRCm39) |
I274V |
probably benign |
Het |
| Cog2 |
T |
G |
8: 125,262,258 (GRCm39) |
S299A |
possibly damaging |
Het |
| Cpa6 |
C |
A |
1: 10,479,524 (GRCm39) |
M236I |
probably damaging |
Het |
| Crym |
T |
A |
7: 119,789,742 (GRCm39) |
Q242L |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,393,142 (GRCm39) |
|
probably null |
Het |
| Eif4a3l1 |
A |
G |
6: 136,306,396 (GRCm39) |
T286A |
possibly damaging |
Het |
| Epdr1 |
A |
T |
13: 19,777,458 (GRCm39) |
I180N |
possibly damaging |
Het |
| Fancd2os |
G |
A |
6: 113,574,851 (GRCm39) |
L52F |
probably benign |
Het |
| Fbxo16 |
C |
A |
14: 65,558,716 (GRCm39) |
R292S |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,667,272 (GRCm39) |
Q820R |
probably benign |
Het |
| Gm4131 |
T |
A |
14: 62,704,301 (GRCm39) |
Y140F |
possibly damaging |
Het |
| Grin2a |
T |
C |
16: 9,396,986 (GRCm39) |
R1034G |
possibly damaging |
Het |
| Hypk |
A |
G |
2: 121,284,805 (GRCm39) |
|
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,314,951 (GRCm39) |
V823A |
probably benign |
Het |
| Irf5 |
A |
G |
6: 29,534,039 (GRCm39) |
N95S |
probably damaging |
Het |
| Kdr |
A |
T |
5: 76,125,360 (GRCm39) |
M379K |
probably benign |
Het |
| Kif19a |
G |
T |
11: 114,656,281 (GRCm39) |
|
probably benign |
Het |
| Klhdc4 |
T |
C |
8: 122,526,397 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
T |
10: 26,995,976 (GRCm39) |
I1717N |
probably damaging |
Het |
| Lama4 |
A |
T |
10: 38,968,295 (GRCm39) |
Q1479L |
probably benign |
Het |
| Lgr5 |
T |
A |
10: 115,288,410 (GRCm39) |
T745S |
probably damaging |
Het |
| Lifr |
T |
A |
15: 7,196,540 (GRCm39) |
|
probably null |
Het |
| Llgl1 |
C |
T |
11: 60,596,812 (GRCm39) |
R138C |
possibly damaging |
Het |
| Mccc1 |
A |
T |
3: 36,044,005 (GRCm39) |
V246E |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,725,944 (GRCm39) |
L2621H |
probably benign |
Het |
| Mecr |
C |
A |
4: 131,581,089 (GRCm39) |
A80D |
probably damaging |
Het |
| Nubpl |
A |
G |
12: 52,179,203 (GRCm39) |
|
probably benign |
Het |
| Obscn |
C |
T |
11: 59,024,053 (GRCm39) |
R539H |
probably damaging |
Het |
| Or4n4b |
T |
A |
14: 50,535,879 (GRCm39) |
T296S |
probably benign |
Het |
| Or8h10 |
A |
G |
2: 86,808,867 (GRCm39) |
V91A |
probably benign |
Het |
| Pde5a |
A |
T |
3: 122,648,895 (GRCm39) |
K838* |
probably null |
Het |
| Pgm3 |
A |
G |
9: 86,444,650 (GRCm39) |
L295P |
probably damaging |
Het |
| Pkp2 |
T |
C |
16: 16,064,793 (GRCm39) |
L439P |
possibly damaging |
Het |
| Polr1a |
T |
A |
6: 71,897,500 (GRCm39) |
C205* |
probably null |
Het |
| Rab3gap1 |
T |
A |
1: 127,855,249 (GRCm39) |
I429K |
probably benign |
Het |
| Rassf8 |
T |
C |
6: 145,761,295 (GRCm39) |
V207A |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,451,530 (GRCm39) |
D4525E |
possibly damaging |
Het |
| Sec24a |
A |
T |
11: 51,598,082 (GRCm39) |
L864Q |
probably damaging |
Het |
| Spats2l |
C |
A |
1: 57,918,672 (GRCm39) |
Y35* |
probably null |
Het |
| Sptlc2 |
A |
T |
12: 87,388,380 (GRCm39) |
D367E |
probably benign |
Het |
| Ssc4d |
T |
C |
5: 135,996,810 (GRCm39) |
D97G |
possibly damaging |
Het |
| Tjp1 |
A |
G |
7: 65,177,400 (GRCm39) |
Y3H |
possibly damaging |
Het |
| Tkt |
T |
A |
14: 30,291,102 (GRCm39) |
|
probably null |
Het |
| Trim60 |
T |
A |
8: 65,453,133 (GRCm39) |
N372I |
possibly damaging |
Het |
| Trpm2 |
T |
C |
10: 77,759,389 (GRCm39) |
N1132D |
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,654,154 (GRCm39) |
I211T |
probably damaging |
Het |
| Ttc39b |
T |
C |
4: 83,180,088 (GRCm39) |
K132E |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,553,932 (GRCm39) |
V30924I |
probably damaging |
Het |
| Tubgcp6 |
G |
A |
15: 88,987,173 (GRCm39) |
Q1267* |
probably null |
Het |
| Zfp30 |
C |
A |
7: 29,492,043 (GRCm39) |
T180N |
probably benign |
Het |
| Zp2 |
A |
G |
7: 119,731,614 (GRCm39) |
*714R |
probably null |
Het |
|
| Other mutations in Mia2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00717:Mia2
|
APN |
12 |
59,207,059 (GRCm39) |
splice site |
probably benign |
|
|
IGL00791:Mia2
|
APN |
12 |
59,155,085 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL00821:Mia2
|
APN |
12 |
59,217,106 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00901:Mia2
|
APN |
12 |
59,154,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00985:Mia2
|
APN |
12 |
59,235,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01304:Mia2
|
APN |
12 |
59,151,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01909:Mia2
|
APN |
12 |
59,154,731 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02646:Mia2
|
APN |
12 |
59,155,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02800:Mia2
|
APN |
12 |
59,235,277 (GRCm39) |
nonsense |
probably null |
|
|
IGL03332:Mia2
|
APN |
12 |
59,155,184 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4812001:Mia2
|
UTSW |
12 |
59,148,365 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0242:Mia2
|
UTSW |
12 |
59,155,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Mia2
|
UTSW |
12 |
59,155,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0449:Mia2
|
UTSW |
12 |
59,219,380 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0620:Mia2
|
UTSW |
12 |
59,201,205 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0622:Mia2
|
UTSW |
12 |
59,178,364 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0632:Mia2
|
UTSW |
12 |
59,182,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1643:Mia2
|
UTSW |
12 |
59,226,631 (GRCm39) |
splice site |
probably null |
|
|
R1654:Mia2
|
UTSW |
12 |
59,155,619 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1706:Mia2
|
UTSW |
12 |
59,191,552 (GRCm39) |
nonsense |
probably null |
|
|
R1776:Mia2
|
UTSW |
12 |
59,196,361 (GRCm39) |
splice site |
probably benign |
|
|
R1848:Mia2
|
UTSW |
12 |
59,217,037 (GRCm39) |
splice site |
probably benign |
|
|
R2240:Mia2
|
UTSW |
12 |
59,154,668 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2698:Mia2
|
UTSW |
12 |
59,217,780 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2860:Mia2
|
UTSW |
12 |
59,201,196 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2861:Mia2
|
UTSW |
12 |
59,201,196 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2862:Mia2
|
UTSW |
12 |
59,201,196 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3429:Mia2
|
UTSW |
12 |
59,236,427 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3861:Mia2
|
UTSW |
12 |
59,155,807 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3965:Mia2
|
UTSW |
12 |
59,223,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5156:Mia2
|
UTSW |
12 |
59,219,323 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5249:Mia2
|
UTSW |
12 |
59,154,911 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5330:Mia2
|
UTSW |
12 |
59,142,598 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5331:Mia2
|
UTSW |
12 |
59,142,598 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5815:Mia2
|
UTSW |
12 |
59,220,892 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5972:Mia2
|
UTSW |
12 |
59,193,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6651:Mia2
|
UTSW |
12 |
59,201,148 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6676:Mia2
|
UTSW |
12 |
59,155,156 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6695:Mia2
|
UTSW |
12 |
59,219,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6800:Mia2
|
UTSW |
12 |
59,235,332 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6845:Mia2
|
UTSW |
12 |
59,231,064 (GRCm39) |
nonsense |
probably null |
|
|
R6919:Mia2
|
UTSW |
12 |
59,176,681 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7058:Mia2
|
UTSW |
12 |
59,231,021 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7209:Mia2
|
UTSW |
12 |
59,201,176 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7291:Mia2
|
UTSW |
12 |
59,205,155 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7874:Mia2
|
UTSW |
12 |
59,155,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7894:Mia2
|
UTSW |
12 |
59,236,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7961:Mia2
|
UTSW |
12 |
59,206,425 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7980:Mia2
|
UTSW |
12 |
59,155,651 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8110:Mia2
|
UTSW |
12 |
59,155,873 (GRCm39) |
splice site |
probably null |
|
|
R8557:Mia2
|
UTSW |
12 |
59,148,274 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9031:Mia2
|
UTSW |
12 |
59,155,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9077:Mia2
|
UTSW |
12 |
59,226,760 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9113:Mia2
|
UTSW |
12 |
59,217,053 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9214:Mia2
|
UTSW |
12 |
59,223,150 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9433:Mia2
|
UTSW |
12 |
59,148,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Mia2
|
UTSW |
12 |
59,182,925 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Mia2
|
UTSW |
12 |
59,155,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Mia2
|
UTSW |
12 |
59,154,910 (GRCm39) |
missense |
probably benign |
0.27 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTACATATTTGGAAGTGAACAG -3'
(R):5'- CACTGTGTAATTTCTCCAGGTCAC -3'
Sequencing Primer
(F):5'- GTACCCATATGAAAAAGATGAAGACC -3'
(R):5'- GTGTAATTTCTCCAGGTCACTCTCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation