Incidental Mutation 'R1654:Mia2'
| ID |
188963 |
| 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 |
039690-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R1654 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
59142368-59237006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 59155619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 445
(T445K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021384]
[ENSMUST00000219140]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021384
AA Change: T444K
PolyPhen 2
Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000021384
Gene: ENSMUSG00000021000
AA Change: T444K
| 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 |
possibly damaging
Transcript: ENSMUST00000219140
AA Change: T445K
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221093
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
C |
T |
11: 109,688,225 (GRCm39) |
S90N |
probably benign |
Het |
| Apc2 |
C |
T |
10: 80,137,676 (GRCm39) |
T39I |
possibly damaging |
Het |
| Arfgef3 |
C |
T |
10: 18,500,896 (GRCm39) |
R1118K |
probably null |
Het |
| Arhgef12 |
T |
C |
9: 42,908,956 (GRCm39) |
D658G |
possibly damaging |
Het |
| Asph |
G |
T |
4: 9,453,315 (GRCm39) |
R736S |
probably benign |
Het |
| Bcas1 |
C |
T |
2: 170,191,166 (GRCm39) |
G542E |
probably damaging |
Het |
| Brd8 |
A |
T |
18: 34,744,279 (GRCm39) |
V183E |
probably damaging |
Het |
| C1rl |
G |
A |
6: 124,470,869 (GRCm39) |
G59E |
probably damaging |
Het |
| Cacna1i |
C |
A |
15: 80,273,411 (GRCm39) |
A1699D |
probably damaging |
Het |
| Card6 |
G |
T |
15: 5,128,214 (GRCm39) |
Q1061K |
probably benign |
Het |
| Cd163 |
G |
T |
6: 124,294,540 (GRCm39) |
C566F |
probably damaging |
Het |
| Cd84 |
C |
T |
1: 171,712,173 (GRCm39) |
T263I |
possibly damaging |
Het |
| Cep63 |
T |
C |
9: 102,464,112 (GRCm39) |
I740V |
possibly damaging |
Het |
| Chaf1b |
C |
A |
16: 93,691,791 (GRCm39) |
A279D |
probably damaging |
Het |
| Chsy3 |
A |
T |
18: 59,309,488 (GRCm39) |
Y247F |
probably damaging |
Het |
| Cpxm1 |
G |
A |
2: 130,235,466 (GRCm39) |
L509F |
possibly damaging |
Het |
| Disc1 |
A |
T |
8: 125,875,204 (GRCm39) |
Q558L |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,525,672 (GRCm39) |
L3894Q |
probably damaging |
Het |
| Dnmt1 |
G |
T |
9: 20,847,870 (GRCm39) |
T105N |
possibly damaging |
Het |
| Dock6 |
A |
T |
9: 21,716,139 (GRCm39) |
L1732Q |
probably damaging |
Het |
| Dsc2 |
T |
C |
18: 20,179,303 (GRCm39) |
N255S |
probably benign |
Het |
| Dsel |
A |
T |
1: 111,790,242 (GRCm39) |
Y98N |
probably damaging |
Het |
| Enox1 |
T |
A |
14: 77,848,814 (GRCm39) |
I375N |
possibly damaging |
Het |
| Epha4 |
T |
A |
1: 77,351,405 (GRCm39) |
|
probably null |
Het |
| Fktn |
A |
G |
4: 53,761,220 (GRCm39) |
I446V |
probably benign |
Het |
| Garin4 |
T |
C |
1: 190,895,678 (GRCm39) |
R322G |
probably benign |
Het |
| Gm7361 |
G |
T |
5: 26,466,097 (GRCm39) |
R153L |
probably damaging |
Het |
| Grin2c |
C |
T |
11: 115,151,679 (GRCm39) |
V94I |
probably benign |
Het |
| Kalrn |
T |
G |
16: 33,796,108 (GRCm39) |
L1222F |
probably damaging |
Het |
| Krt80 |
T |
C |
15: 101,249,590 (GRCm39) |
K255E |
probably damaging |
Het |
| Lcn6 |
T |
A |
2: 25,570,787 (GRCm39) |
|
probably null |
Het |
| Lonp2 |
T |
G |
8: 87,358,078 (GRCm39) |
L100V |
probably damaging |
Het |
| Lyn |
G |
A |
4: 3,789,912 (GRCm39) |
A482T |
probably damaging |
Het |
| Mapk4 |
A |
G |
18: 74,064,010 (GRCm39) |
F404S |
probably damaging |
Het |
| Mast2 |
T |
C |
4: 116,173,747 (GRCm39) |
|
probably null |
Het |
| Medag |
T |
C |
5: 149,345,600 (GRCm39) |
Y94H |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,037,911 (GRCm39) |
L809P |
possibly damaging |
Het |
| Mgam |
T |
C |
6: 40,734,421 (GRCm39) |
S743P |
probably damaging |
Het |
| Mtcl3 |
A |
T |
10: 29,022,931 (GRCm39) |
|
probably null |
Het |
| Nars1 |
C |
G |
18: 64,645,120 (GRCm39) |
A43P |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,688,984 (GRCm39) |
N431S |
possibly damaging |
Het |
| Ndufaf5 |
A |
G |
2: 140,019,220 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
T |
G |
11: 71,072,124 (GRCm39) |
E573A |
probably damaging |
Het |
| Nlrp3 |
T |
C |
11: 59,433,949 (GRCm39) |
V4A |
probably benign |
Het |
| Or2y1d |
G |
A |
11: 49,321,329 (GRCm39) |
G9R |
probably benign |
Het |
| Or56b2 |
A |
T |
7: 104,337,420 (GRCm39) |
Y66F |
probably benign |
Het |
| Or5ac15 |
T |
C |
16: 58,940,052 (GRCm39) |
N127S |
possibly damaging |
Het |
| Pcdhb12 |
A |
T |
18: 37,569,754 (GRCm39) |
D300V |
probably damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,968,083 (GRCm39) |
C804S |
probably benign |
Het |
| Pkp4 |
A |
T |
2: 59,167,963 (GRCm39) |
Q725L |
probably damaging |
Het |
| Ptpre |
T |
A |
7: 135,255,657 (GRCm39) |
S119T |
probably benign |
Het |
| Ptprk |
G |
A |
10: 28,259,643 (GRCm39) |
R361H |
probably damaging |
Het |
| Ptprr |
T |
C |
10: 116,024,268 (GRCm39) |
V193A |
probably benign |
Het |
| Rfx2 |
C |
T |
17: 57,115,263 (GRCm39) |
A19T |
probably benign |
Het |
| Rgs4 |
T |
A |
1: 169,572,880 (GRCm39) |
M19L |
probably benign |
Het |
| Rnf157 |
T |
C |
11: 116,249,541 (GRCm39) |
H225R |
probably damaging |
Het |
| Rnf44 |
A |
T |
13: 54,829,592 (GRCm39) |
D341E |
possibly damaging |
Het |
| Sct |
T |
A |
7: 140,858,767 (GRCm39) |
Q55L |
probably damaging |
Het |
| Sh3rf1 |
A |
T |
8: 61,814,779 (GRCm39) |
H446L |
possibly damaging |
Het |
| Shisa3 |
A |
T |
5: 67,768,402 (GRCm39) |
I101F |
probably damaging |
Het |
| Slc6a13 |
A |
G |
6: 121,313,885 (GRCm39) |
I543V |
probably benign |
Het |
| Spef2 |
G |
A |
15: 9,634,738 (GRCm39) |
A1024V |
probably damaging |
Het |
| St6galnac6 |
T |
C |
2: 32,509,521 (GRCm39) |
S330P |
probably damaging |
Het |
| Stard9 |
G |
T |
2: 120,534,203 (GRCm39) |
A3487S |
probably benign |
Het |
| Suclg2 |
T |
C |
6: 95,632,532 (GRCm39) |
S46G |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,147,868 (GRCm39) |
V6469A |
possibly damaging |
Het |
| Tada2b |
C |
T |
5: 36,641,139 (GRCm39) |
G88D |
probably damaging |
Het |
| Tll1 |
A |
T |
8: 64,570,937 (GRCm39) |
|
probably null |
Het |
| Tph2 |
T |
A |
10: 115,020,712 (GRCm39) |
H28L |
probably benign |
Het |
| Trmt6 |
C |
A |
2: 132,657,755 (GRCm39) |
V34L |
possibly damaging |
Het |
| Ttc22 |
A |
G |
4: 106,491,408 (GRCm39) |
T204A |
probably damaging |
Het |
| Umodl1 |
A |
T |
17: 31,206,942 (GRCm39) |
M778L |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,810,065 (GRCm39) |
H2282R |
probably damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,461,123 (GRCm39) |
S816R |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,858,969 (GRCm39) |
F2806L |
probably damaging |
Het |
| Zbtb4 |
C |
A |
11: 69,669,995 (GRCm39) |
A906D |
probably damaging |
Het |
| Zscan29 |
A |
G |
2: 120,995,260 (GRCm39) |
V421A |
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 |
|
|
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 |
|
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'- GGCTTTACAAATGCCGACGAAGAC -3'
(R):5'- ACCTGACAGAACGTATCTGCTCGC -3'
Sequencing Primer
(F):5'- CGACGAAGACAACATTGTTTCAG -3'
(R):5'- AGCATCACGGGGTCTTTC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation