Incidental Mutation 'IGL00821:Mia2'
ID |
13393 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mia2
|
Ensembl Gene |
ENSMUSG00000021000 |
Gene Name |
MIA SH3 domain ER export factor 2 |
Synonyms |
MEA6, Mgea, Mgea6, D12Bwg0579e, Ctage5 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.947)
|
Stock # |
IGL00821
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
59142368-59237006 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 59217106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069430]
[ENSMUST00000170992]
[ENSMUST00000175877]
[ENSMUST00000175912]
[ENSMUST00000176322]
[ENSMUST00000176892]
[ENSMUST00000177162]
[ENSMUST00000176464]
[ENSMUST00000177225]
[ENSMUST00000176336]
[ENSMUST00000176752]
[ENSMUST00000219140]
[ENSMUST00000176727]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000069430
|
SMART Domains |
Protein: ENSMUSP00000070572 Gene: ENSMUSG00000021000
Domain | Start | End | E-Value | Type |
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
124 |
253 |
9e-6 |
SMART |
SCOP:d1fxkc_
|
314 |
437 |
3e-16 |
SMART |
low complexity region
|
480 |
493 |
N/A |
INTRINSIC |
low complexity region
|
533 |
556 |
N/A |
INTRINSIC |
low complexity region
|
682 |
700 |
N/A |
INTRINSIC |
low complexity region
|
707 |
717 |
N/A |
INTRINSIC |
low complexity region
|
722 |
742 |
N/A |
INTRINSIC |
low complexity region
|
751 |
775 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000170992
|
SMART Domains |
Protein: ENSMUSP00000126538 Gene: ENSMUSG00000021000
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
102 |
231 |
2e-6 |
SMART |
SCOP:d1fxkc_
|
292 |
415 |
2e-17 |
SMART |
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
low complexity region
|
511 |
534 |
N/A |
INTRINSIC |
low complexity region
|
660 |
678 |
N/A |
INTRINSIC |
low complexity region
|
685 |
695 |
N/A |
INTRINSIC |
low complexity region
|
700 |
720 |
N/A |
INTRINSIC |
low complexity region
|
729 |
753 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175659
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175837
|
SMART Domains |
Protein: ENSMUSP00000134828 Gene: ENSMUSG00000021000
Domain | Start | End | E-Value | Type |
SCOP:d1fxkc_
|
3 |
90 |
5e-3 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000175877
|
SMART Domains |
Protein: ENSMUSP00000135440 Gene: ENSMUSG00000021000
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
74 |
203 |
1e-5 |
SMART |
SCOP:d1fxkc_
|
264 |
387 |
6e-16 |
SMART |
low complexity region
|
430 |
443 |
N/A |
INTRINSIC |
low complexity region
|
589 |
607 |
N/A |
INTRINSIC |
low complexity region
|
614 |
624 |
N/A |
INTRINSIC |
low complexity region
|
629 |
649 |
N/A |
INTRINSIC |
low complexity region
|
658 |
682 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000175912
|
SMART Domains |
Protein: ENSMUSP00000135251 Gene: ENSMUSG00000021000
Domain | Start | End | E-Value | Type |
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
115 |
244 |
8e-6 |
SMART |
SCOP:d1fxkc_
|
305 |
428 |
2e-16 |
SMART |
low complexity region
|
471 |
484 |
N/A |
INTRINSIC |
low complexity region
|
524 |
547 |
N/A |
INTRINSIC |
low complexity region
|
673 |
691 |
N/A |
INTRINSIC |
low complexity region
|
698 |
708 |
N/A |
INTRINSIC |
low complexity region
|
713 |
733 |
N/A |
INTRINSIC |
low complexity region
|
742 |
766 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176223
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176322
|
SMART Domains |
Protein: ENSMUSP00000135100 Gene: ENSMUSG00000021000
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
135 |
264 |
4e-6 |
SMART |
SCOP:d1fxkc_
|
325 |
448 |
9e-17 |
SMART |
low complexity region
|
491 |
504 |
N/A |
INTRINSIC |
low complexity region
|
544 |
567 |
N/A |
INTRINSIC |
low complexity region
|
693 |
711 |
N/A |
INTRINSIC |
low complexity region
|
718 |
728 |
N/A |
INTRINSIC |
low complexity region
|
733 |
753 |
N/A |
INTRINSIC |
low complexity region
|
762 |
786 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176892
|
SMART Domains |
Protein: ENSMUSP00000135245 Gene: ENSMUSG00000021000
Domain | Start | End | E-Value | Type |
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
91 |
220 |
4e-6 |
SMART |
SCOP:d1fxkc_
|
281 |
404 |
8e-17 |
SMART |
low complexity region
|
447 |
460 |
N/A |
INTRINSIC |
low complexity region
|
500 |
523 |
N/A |
INTRINSIC |
low complexity region
|
649 |
667 |
N/A |
INTRINSIC |
low complexity region
|
674 |
684 |
N/A |
INTRINSIC |
low complexity region
|
689 |
709 |
N/A |
INTRINSIC |
low complexity region
|
718 |
742 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177222
|
Predicted Effect |
probably null
Transcript: ENSMUST00000177162
|
SMART Domains |
Protein: ENSMUSP00000135001 Gene: ENSMUSG00000021000
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
126 |
255 |
2e-5 |
SMART |
SCOP:d1fxkc_
|
316 |
439 |
8e-16 |
SMART |
low complexity region
|
482 |
495 |
N/A |
INTRINSIC |
low complexity region
|
641 |
659 |
N/A |
INTRINSIC |
low complexity region
|
666 |
676 |
N/A |
INTRINSIC |
low complexity region
|
681 |
701 |
N/A |
INTRINSIC |
low complexity region
|
710 |
734 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176464
|
SMART Domains |
Protein: ENSMUSP00000135390 Gene: ENSMUSG00000021000
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
126 |
255 |
4e-6 |
SMART |
SCOP:d1fxkc_
|
316 |
439 |
8e-17 |
SMART |
low complexity region
|
482 |
495 |
N/A |
INTRINSIC |
low complexity region
|
535 |
558 |
N/A |
INTRINSIC |
low complexity region
|
684 |
702 |
N/A |
INTRINSIC |
low complexity region
|
709 |
719 |
N/A |
INTRINSIC |
low complexity region
|
724 |
744 |
N/A |
INTRINSIC |
low complexity region
|
753 |
777 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000177225
|
SMART Domains |
Protein: ENSMUSP00000135618 Gene: ENSMUSG00000021000
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
98 |
227 |
3e-5 |
SMART |
SCOP:d1fxkc_
|
288 |
411 |
2e-15 |
SMART |
low complexity region
|
454 |
467 |
N/A |
INTRINSIC |
low complexity region
|
613 |
631 |
N/A |
INTRINSIC |
low complexity region
|
638 |
648 |
N/A |
INTRINSIC |
low complexity region
|
653 |
673 |
N/A |
INTRINSIC |
low complexity region
|
682 |
706 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176336
|
SMART Domains |
Protein: ENSMUSP00000134872 Gene: ENSMUSG00000021000
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
24 |
N/A |
INTRINSIC |
coiled coil region
|
55 |
235 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
281 |
404 |
6e-8 |
SMART |
low complexity region
|
447 |
460 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176617
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176752
|
SMART Domains |
Protein: ENSMUSP00000134972 Gene: ENSMUSG00000021000
Domain | Start | End | E-Value | Type |
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000219140
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176727
|
SMART Domains |
Protein: ENSMUSP00000135694 Gene: ENSMUSG00000021000
Domain | Start | End | E-Value | Type |
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cad |
T |
C |
5: 31,218,828 (GRCm39) |
Y550H |
probably damaging |
Het |
Cep350 |
A |
G |
1: 155,737,950 (GRCm39) |
V2631A |
probably benign |
Het |
Cpa2 |
A |
G |
6: 30,564,411 (GRCm39) |
D414G |
probably benign |
Het |
Dhx38 |
T |
C |
8: 110,282,286 (GRCm39) |
I714V |
probably benign |
Het |
Dis3 |
T |
C |
14: 99,328,922 (GRCm39) |
I277V |
probably benign |
Het |
Espl1 |
T |
C |
15: 102,208,248 (GRCm39) |
L418P |
probably damaging |
Het |
F7 |
A |
G |
8: 13,078,802 (GRCm39) |
T78A |
probably benign |
Het |
Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
Golga3 |
C |
A |
5: 110,352,799 (GRCm39) |
H897N |
possibly damaging |
Het |
Itgae |
T |
A |
11: 73,013,974 (GRCm39) |
D724E |
probably damaging |
Het |
Klb |
A |
T |
5: 65,529,492 (GRCm39) |
Y340F |
probably damaging |
Het |
Kmt2b |
A |
T |
7: 30,270,038 (GRCm39) |
L2436Q |
probably damaging |
Het |
Krt17 |
A |
G |
11: 100,151,457 (GRCm39) |
L112P |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,289,860 (GRCm39) |
N3660Y |
probably damaging |
Het |
Myh2 |
C |
T |
11: 67,088,223 (GRCm39) |
|
probably benign |
Het |
Nr2f1 |
A |
G |
13: 78,346,233 (GRCm39) |
|
probably benign |
Het |
Odf2l |
T |
A |
3: 144,856,748 (GRCm39) |
S568T |
probably damaging |
Het |
Parl |
G |
A |
16: 20,116,958 (GRCm39) |
P80S |
probably damaging |
Het |
Ppfibp2 |
T |
G |
7: 107,329,083 (GRCm39) |
F531V |
probably damaging |
Het |
Prpf40b |
A |
G |
15: 99,214,382 (GRCm39) |
E854G |
probably benign |
Het |
Rere |
A |
G |
4: 150,703,920 (GRCm39) |
K1551E |
probably damaging |
Het |
Sacm1l |
A |
T |
9: 123,399,614 (GRCm39) |
Q302L |
possibly damaging |
Het |
Slc41a2 |
A |
G |
10: 83,149,394 (GRCm39) |
|
probably benign |
Het |
Smchd1 |
T |
C |
17: 71,705,618 (GRCm39) |
T994A |
possibly damaging |
Het |
Ubxn7 |
G |
A |
16: 32,188,216 (GRCm39) |
D125N |
probably damaging |
Het |
Zfp667 |
A |
G |
7: 6,308,396 (GRCm39) |
N355D |
possibly damaging |
Het |
Zfp839 |
T |
C |
12: 110,831,441 (GRCm39) |
|
probably null |
Het |
Zfpm2 |
T |
A |
15: 40,966,783 (GRCm39) |
N957K |
probably damaging |
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 |
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 |
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 |
|
Posted On |
2012-12-06 |