Incidental Mutation 'R3861:Mia2'
ID |
276367 |
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 |
040788-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.947)
|
Stock # |
R3861 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
59142368-59237006 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 59155807 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 508
(V508L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021384]
[ENSMUST00000219140]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021384
AA Change: V507L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000021384 Gene: ENSMUSG00000021000 AA Change: V507L
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: V508L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221093
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (55/55) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730507C01Rik |
G |
A |
12: 18,583,411 (GRCm39) |
S157N |
probably benign |
Het |
A830018L16Rik |
T |
C |
1: 11,658,778 (GRCm39) |
|
probably benign |
Het |
Akip1 |
C |
T |
7: 109,306,613 (GRCm39) |
|
probably benign |
Het |
Anxa5 |
T |
C |
3: 36,504,807 (GRCm39) |
T252A |
probably benign |
Het |
Arhgef10l |
A |
G |
4: 140,242,798 (GRCm39) |
F1072L |
possibly damaging |
Het |
Armc1 |
C |
T |
3: 19,189,196 (GRCm39) |
R186Q |
probably damaging |
Het |
Atxn2l |
A |
T |
7: 126,101,123 (GRCm39) |
|
probably null |
Het |
Cadps2 |
A |
G |
6: 23,355,860 (GRCm39) |
I849T |
probably damaging |
Het |
Ccdc28a |
T |
A |
10: 18,100,743 (GRCm39) |
Q28L |
probably damaging |
Het |
Cdh4 |
T |
A |
2: 179,515,890 (GRCm39) |
V356D |
probably damaging |
Het |
Chd8 |
T |
A |
14: 52,474,578 (GRCm39) |
Q151L |
probably benign |
Het |
Chgb |
T |
A |
2: 132,635,064 (GRCm39) |
H335Q |
probably damaging |
Het |
Col19a1 |
G |
A |
1: 24,365,098 (GRCm39) |
P506S |
probably damaging |
Het |
Col5a2 |
T |
C |
1: 45,419,397 (GRCm39) |
T1228A |
probably damaging |
Het |
Cpxm2 |
A |
G |
7: 131,656,648 (GRCm39) |
V538A |
probably benign |
Het |
Cramp1 |
A |
T |
17: 25,216,588 (GRCm39) |
|
probably benign |
Het |
Cttnbp2 |
T |
C |
6: 18,423,832 (GRCm39) |
R831G |
probably benign |
Het |
Cyp4f17 |
A |
G |
17: 32,747,078 (GRCm39) |
D436G |
probably damaging |
Het |
Dcaf6 |
A |
T |
1: 165,256,838 (GRCm39) |
N48K |
probably damaging |
Het |
Ddx50 |
C |
A |
10: 62,478,725 (GRCm39) |
V154L |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 65,943,820 (GRCm39) |
|
probably benign |
Het |
Dnm3 |
T |
A |
1: 162,138,974 (GRCm39) |
I395L |
possibly damaging |
Het |
Elp2 |
C |
T |
18: 24,739,977 (GRCm39) |
R68C |
probably benign |
Het |
Frg1 |
A |
T |
8: 41,860,820 (GRCm39) |
|
probably null |
Het |
Fsip2 |
G |
T |
2: 82,815,120 (GRCm39) |
D3618Y |
probably damaging |
Het |
Gabra2 |
T |
C |
5: 71,130,886 (GRCm39) |
D314G |
probably damaging |
Het |
Gramd1a |
A |
C |
7: 30,835,365 (GRCm39) |
D407E |
possibly damaging |
Het |
Grm5 |
T |
A |
7: 87,779,202 (GRCm39) |
S881T |
possibly damaging |
Het |
Ikbkb |
T |
A |
8: 23,168,852 (GRCm39) |
I216F |
possibly damaging |
Het |
Kif3a |
T |
C |
11: 53,488,805 (GRCm39) |
V634A |
probably benign |
Het |
Ltbp1 |
A |
T |
17: 75,666,333 (GRCm39) |
Y1342F |
possibly damaging |
Het |
Mtus2 |
C |
T |
5: 148,250,223 (GRCm39) |
T155M |
probably damaging |
Het |
Napepld |
A |
T |
5: 21,888,287 (GRCm39) |
V54E |
probably benign |
Het |
Nlrc4 |
T |
C |
17: 74,752,616 (GRCm39) |
E589G |
probably benign |
Het |
Nphp3 |
G |
T |
9: 103,916,525 (GRCm39) |
|
probably benign |
Het |
Nr2f1 |
T |
A |
13: 78,343,794 (GRCm39) |
R10* |
probably null |
Het |
Nsfl1c |
C |
A |
2: 151,352,824 (GRCm39) |
|
probably null |
Het |
Or14a258 |
A |
G |
7: 86,035,331 (GRCm39) |
V179A |
possibly damaging |
Het |
Pcdhgc3 |
A |
G |
18: 37,941,581 (GRCm39) |
T661A |
probably damaging |
Het |
Pdzrn3 |
A |
G |
6: 101,149,332 (GRCm39) |
V332A |
possibly damaging |
Het |
Pip4p2 |
A |
G |
4: 14,902,506 (GRCm39) |
N169S |
probably damaging |
Het |
Pkhd1 |
C |
T |
1: 20,271,151 (GRCm39) |
C3134Y |
probably damaging |
Het |
Ptprz1 |
T |
C |
6: 23,036,894 (GRCm39) |
V1131A |
probably damaging |
Het |
Rccd1 |
T |
C |
7: 79,970,116 (GRCm39) |
E167G |
probably benign |
Het |
Ror1 |
T |
C |
4: 100,265,120 (GRCm39) |
I198T |
possibly damaging |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Scly |
C |
T |
1: 91,230,573 (GRCm39) |
|
probably benign |
Het |
Scn4a |
T |
C |
11: 106,216,950 (GRCm39) |
|
probably benign |
Het |
Sh3rf2 |
T |
C |
18: 42,286,384 (GRCm39) |
S594P |
probably damaging |
Het |
Slc19a1 |
G |
A |
10: 76,877,809 (GRCm39) |
V115M |
possibly damaging |
Het |
Slc26a6 |
A |
T |
9: 108,731,395 (GRCm39) |
|
probably benign |
Het |
Smg7 |
C |
T |
1: 152,728,349 (GRCm39) |
R439K |
probably null |
Het |
Spata31e3 |
T |
C |
13: 50,400,887 (GRCm39) |
K480E |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,013,253 (GRCm39) |
R2815G |
probably damaging |
Het |
Trim75 |
G |
A |
8: 65,435,479 (GRCm39) |
R324C |
probably damaging |
Het |
Ucp3 |
T |
C |
7: 100,129,458 (GRCm39) |
S98P |
probably benign |
Het |
Zscan29 |
G |
C |
2: 120,991,212 (GRCm39) |
R859G |
probably benign |
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 |
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 |
R7274:Mia2
|
UTSW |
12 |
59,154,905 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- CCATGCAGTATCTGAAGAAGTTC -3'
(R):5'- GCTGTTGGCTAAGACATGGG -3'
Sequencing Primer
(F):5'- AAGAAGTTCTTTGATAATCCTTGGGG -3'
(R):5'- AACTTGGAGTTGCACAGTTCCAG -3'
|
Posted On |
2015-04-06 |