Incidental Mutation 'R7291:Mia2'
| ID |
566432 |
| 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 |
045322-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R7291 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| 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 A
at 59205155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069430]
[ENSMUST00000170992]
[ENSMUST00000175877]
[ENSMUST00000175912]
[ENSMUST00000176322]
[ENSMUST00000176336]
[ENSMUST00000176892]
[ENSMUST00000176464]
[ENSMUST00000176727]
[ENSMUST00000176752]
[ENSMUST00000177162]
[ENSMUST00000177225]
[ENSMUST00000219140]
|
| 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 |
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 |
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 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 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 |
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 benign
Transcript: ENSMUST00000176617
|
| 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 |
|
| 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: 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: 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 null
Transcript: ENSMUST00000219140
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430069I07Rik |
T |
C |
15: 34,355,699 (GRCm39) |
E51G |
possibly damaging |
Het |
| Abca14 |
C |
A |
7: 119,888,832 (GRCm39) |
C1259* |
probably null |
Het |
| Ablim1 |
T |
C |
19: 57,204,340 (GRCm39) |
E17G |
probably benign |
Het |
| Acsf3 |
G |
A |
8: 123,540,316 (GRCm39) |
V505I |
probably benign |
Het |
| Actn1 |
T |
C |
12: 80,220,859 (GRCm39) |
M650V |
probably benign |
Het |
| Adamts4 |
G |
A |
1: 171,084,097 (GRCm39) |
V525I |
probably benign |
Het |
| Adh1 |
T |
C |
3: 137,988,569 (GRCm39) |
Y181H |
probably damaging |
Het |
| Alpl |
G |
A |
4: 137,480,009 (GRCm39) |
R168W |
probably damaging |
Het |
| Ate1 |
T |
G |
7: 130,121,661 (GRCm39) |
K11Q |
probably benign |
Het |
| Atpaf1 |
T |
A |
4: 115,668,288 (GRCm39) |
F314L |
probably damaging |
Het |
| Baiap3 |
T |
A |
17: 25,463,291 (GRCm39) |
D1004V |
probably damaging |
Het |
| Bpifb9a |
C |
T |
2: 154,109,616 (GRCm39) |
T504M |
probably damaging |
Het |
| C1s2 |
T |
A |
6: 124,602,343 (GRCm39) |
I623F |
probably benign |
Het |
| Card11 |
T |
C |
5: 140,886,825 (GRCm39) |
D308G |
probably damaging |
Het |
| Cul9 |
C |
T |
17: 46,851,359 (GRCm39) |
V354I |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 31,020,662 (GRCm39) |
F1236I |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 6,929,590 (GRCm39) |
I4266F |
possibly damaging |
Het |
| Ear10 |
A |
T |
14: 44,160,377 (GRCm39) |
V150D |
probably damaging |
Het |
| Elfn2 |
C |
T |
15: 78,557,183 (GRCm39) |
A455T |
probably benign |
Het |
| Erp44 |
A |
G |
4: 48,208,792 (GRCm39) |
Y223H |
probably damaging |
Het |
| Fam110b |
T |
A |
4: 5,798,895 (GRCm39) |
H104Q |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,800,817 (GRCm39) |
N1288D |
probably benign |
Het |
| Fcgbpl1 |
A |
C |
7: 27,839,645 (GRCm39) |
D486A |
probably benign |
Het |
| Fcrl1 |
T |
C |
3: 87,293,088 (GRCm39) |
|
probably null |
Het |
| Fmo2 |
G |
T |
1: 162,715,271 (GRCm39) |
P117Q |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,810,863 (GRCm39) |
K2394R |
possibly damaging |
Het |
| Gab1 |
T |
G |
8: 81,526,780 (GRCm39) |
K106T |
probably damaging |
Het |
| Gatad2b |
T |
C |
3: 90,258,721 (GRCm39) |
V248A |
probably damaging |
Het |
| Gemin6 |
T |
C |
17: 80,535,204 (GRCm39) |
S55P |
possibly damaging |
Het |
| Gfm2 |
G |
A |
13: 97,311,532 (GRCm39) |
V701I |
probably benign |
Het |
| Gm3250 |
T |
C |
10: 77,618,061 (GRCm39) |
T106A |
unknown |
Het |
| Gm7356 |
T |
C |
17: 14,221,843 (GRCm39) |
N62S |
probably benign |
Het |
| Gsdmc4 |
T |
C |
15: 63,774,689 (GRCm39) |
T31A |
possibly damaging |
Het |
| H2-M10.1 |
T |
A |
17: 36,636,621 (GRCm39) |
D61V |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,972,122 (GRCm39) |
L716S |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 53,953,753 (GRCm39) |
Y831H |
probably damaging |
Het |
| Ifi202b |
C |
T |
1: 173,802,381 (GRCm39) |
S151N |
probably benign |
Het |
| Il15ra |
C |
T |
2: 11,723,192 (GRCm39) |
T72I |
probably damaging |
Het |
| Ints1 |
A |
G |
5: 139,750,829 (GRCm39) |
L858P |
probably damaging |
Het |
| Kat2a |
C |
T |
11: 100,601,726 (GRCm39) |
V230I |
possibly damaging |
Het |
| Kcnq2 |
A |
T |
2: 180,730,172 (GRCm39) |
I498N |
possibly damaging |
Het |
| Kif26b |
C |
T |
1: 178,506,611 (GRCm39) |
T229I |
possibly damaging |
Het |
| Ly75 |
T |
A |
2: 60,160,337 (GRCm39) |
I957F |
probably damaging |
Het |
| Map3k12 |
T |
A |
15: 102,410,601 (GRCm39) |
R459W |
probably damaging |
Het |
| Mrgprf |
A |
G |
7: 144,861,206 (GRCm39) |
I53V |
unknown |
Het |
| Mttp |
A |
G |
3: 137,796,964 (GRCm39) |
L846P |
probably damaging |
Het |
| Myrip |
C |
T |
9: 120,246,207 (GRCm39) |
L112F |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,393,597 (GRCm39) |
F1047S |
probably damaging |
Het |
| Nfkbib |
T |
C |
7: 28,458,628 (GRCm39) |
D327G |
possibly damaging |
Het |
| Notch1 |
C |
T |
2: 26,366,387 (GRCm39) |
V776I |
probably benign |
Het |
| Obsl1 |
G |
T |
1: 75,466,161 (GRCm39) |
D1522E |
probably damaging |
Het |
| Or52s6 |
T |
A |
7: 103,091,995 (GRCm39) |
M112L |
probably benign |
Het |
| Or5b110-ps1 |
A |
T |
19: 13,259,517 (GRCm39) |
F302I |
unknown |
Het |
| Or7e168 |
T |
C |
9: 19,719,944 (GRCm39) |
M110T |
possibly damaging |
Het |
| Or9r3 |
T |
C |
10: 129,948,093 (GRCm39) |
K189E |
probably benign |
Het |
| Pde7a |
T |
C |
3: 19,281,838 (GRCm39) |
N471D |
probably benign |
Het |
| Pla2r1 |
T |
C |
2: 60,360,779 (GRCm39) |
H203R |
probably benign |
Het |
| Plch2 |
C |
A |
4: 155,082,929 (GRCm39) |
C573F |
probably damaging |
Het |
| Polr1a |
G |
A |
6: 71,918,440 (GRCm39) |
R666Q |
probably benign |
Het |
| Prepl |
T |
C |
17: 85,388,668 (GRCm39) |
N145S |
probably benign |
Het |
| Psen2 |
C |
T |
1: 180,066,521 (GRCm39) |
V139M |
probably benign |
Het |
| Ptgdr |
A |
T |
14: 45,096,649 (GRCm39) |
M21K |
possibly damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,582,065 (GRCm39) |
W1331R |
probably benign |
Het |
| Rp1l1 |
G |
A |
14: 64,269,747 (GRCm39) |
G1778S |
probably benign |
Het |
| Rrbp1 |
A |
T |
2: 143,811,382 (GRCm39) |
M824K |
probably benign |
Het |
| Sel1l |
T |
C |
12: 91,815,739 (GRCm39) |
T23A |
probably benign |
Het |
| Sele |
A |
G |
1: 163,881,437 (GRCm39) |
S515G |
possibly damaging |
Het |
| Slc22a23 |
T |
C |
13: 34,381,822 (GRCm39) |
N421D |
probably damaging |
Het |
| Slc35f3 |
T |
G |
8: 127,121,297 (GRCm39) |
L386R |
probably benign |
Het |
| Stab2 |
G |
A |
10: 86,782,084 (GRCm39) |
S699L |
probably damaging |
Het |
| Synrg |
A |
T |
11: 83,900,207 (GRCm39) |
L726F |
probably damaging |
Het |
| Syt3 |
G |
A |
7: 44,045,343 (GRCm39) |
V528M |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,248,446 (GRCm39) |
I655T |
probably damaging |
Het |
| Tbr1 |
T |
C |
2: 61,642,600 (GRCm39) |
S622P |
probably damaging |
Het |
| Tex36 |
C |
T |
7: 133,188,952 (GRCm39) |
G207S |
probably benign |
Het |
| Trav5n-4 |
G |
A |
14: 53,550,399 (GRCm39) |
W13* |
probably null |
Het |
| Trdn |
A |
T |
10: 33,313,732 (GRCm39) |
E500V |
probably null |
Het |
| Ugt2b38 |
A |
T |
5: 87,559,754 (GRCm39) |
N379K |
probably damaging |
Het |
| Unc13d |
T |
C |
11: 115,964,876 (GRCm39) |
R248G |
possibly damaging |
Het |
| Vmn1r195 |
C |
T |
13: 22,462,919 (GRCm39) |
L130F |
probably damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,794,471 (GRCm39) |
I733V |
probably benign |
Het |
| Zfp870 |
T |
A |
17: 33,102,828 (GRCm39) |
N167I |
probably damaging |
Het |
| Zmynd10 |
A |
T |
9: 107,426,503 (GRCm39) |
M179L |
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 |
|
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 |
|
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'- ATCGACCTCGGTACATTGC -3'
(R):5'- AACCTGAAAACTAGCCTCTGTG -3'
Sequencing Primer
(F):5'- GACCTCGGTACATTGCTAACTTG -3'
(R):5'- TGAAAACTAGCCTCTGTGAAGAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation