Incidental Mutation 'R0620:Mia2'
| ID |
58617 |
| 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 |
038809-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R0620 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
59142368-59237006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59201205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 191
(L191M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069430]
[ENSMUST00000170992]
[ENSMUST00000175877]
[ENSMUST00000175912]
[ENSMUST00000176322]
[ENSMUST00000176336]
[ENSMUST00000176464]
[ENSMUST00000177225]
[ENSMUST00000176892]
[ENSMUST00000177162]
[ENSMUST00000219140]
[ENSMUST00000176727]
[ENSMUST00000176752]
[ENSMUST00000177370]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069430
AA Change: L241M
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000070572
Gene: ENSMUSG00000021000
AA Change: L241M
| 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 |
possibly damaging
Transcript: ENSMUST00000170992
AA Change: L219M
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126538
Gene: ENSMUSG00000021000
AA Change: L219M
| 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 |
possibly damaging
Transcript: ENSMUST00000175877
AA Change: L191M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135440
Gene: ENSMUSG00000021000
AA Change: L191M
| 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 |
possibly damaging
Transcript: ENSMUST00000175912
AA Change: L232M
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135251
Gene: ENSMUSG00000021000
AA Change: L232M
| 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 |
possibly damaging
Transcript: ENSMUST00000176322
AA Change: L252M
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135100
Gene: ENSMUSG00000021000
AA Change: L252M
| 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 |
possibly damaging
Transcript: ENSMUST00000176336
AA Change: L208M
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134872
Gene: ENSMUSG00000021000
AA Change: L208M
| 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 |
possibly damaging
Transcript: ENSMUST00000176464
AA Change: L243M
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135390
Gene: ENSMUSG00000021000
AA Change: L243M
| 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 |
possibly damaging
Transcript: ENSMUST00000177225
AA Change: L215M
PolyPhen 2
Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000135618
Gene: ENSMUSG00000021000
AA Change: L215M
| 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 |
possibly damaging
Transcript: ENSMUST00000176892
AA Change: L208M
PolyPhen 2
Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135245
Gene: ENSMUSG00000021000
AA Change: L208M
| 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 |
possibly damaging
Transcript: ENSMUST00000177162
AA Change: L243M
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135001
Gene: ENSMUSG00000021000
AA Change: L243M
| 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 |
unknown
Transcript: ENSMUST00000176617
AA Change: L41M
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219140
AA Change: L844M
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| 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 benign
Transcript: ENSMUST00000177370
|
| SMART Domains |
Protein: ENSMUSP00000135179
Gene: ENSMUSG00000021000
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
|
coiled coil region
|
95 |
167 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
| Validation Efficiency |
100% (74/74) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,835,094 (GRCm39) |
T679A |
possibly damaging |
Het |
| Ahr |
T |
C |
12: 35,558,193 (GRCm39) |
T276A |
probably benign |
Het |
| Akap9 |
A |
T |
5: 4,114,136 (GRCm39) |
Q3138H |
probably damaging |
Het |
| Armt1 |
T |
A |
10: 4,382,689 (GRCm39) |
F7I |
probably benign |
Het |
| B3galt2 |
A |
G |
1: 143,521,878 (GRCm39) |
R5G |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,958,576 (GRCm39) |
N2750S |
probably benign |
Het |
| Cadps2 |
T |
A |
6: 23,583,395 (GRCm39) |
E365V |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,778,080 (GRCm39) |
|
probably null |
Het |
| Cemip2 |
T |
A |
19: 21,795,335 (GRCm39) |
S743T |
probably benign |
Het |
| Cst7 |
T |
A |
2: 150,417,806 (GRCm39) |
|
probably benign |
Het |
| Defb30 |
A |
T |
14: 63,287,212 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
C |
T |
2: 180,301,644 (GRCm39) |
G2087S |
probably benign |
Het |
| Dio2 |
A |
G |
12: 90,704,845 (GRCm39) |
Y72H |
probably benign |
Het |
| Dnah11 |
C |
T |
12: 117,951,204 (GRCm39) |
E3035K |
probably damaging |
Het |
| Dnajb13 |
T |
C |
7: 100,152,456 (GRCm39) |
K287E |
possibly damaging |
Het |
| Dnajc11 |
G |
A |
4: 152,058,085 (GRCm39) |
V244I |
possibly damaging |
Het |
| Ect2 |
C |
T |
3: 27,193,801 (GRCm39) |
A226T |
probably damaging |
Het |
| Ercc8 |
G |
A |
13: 108,310,595 (GRCm39) |
|
probably null |
Het |
| Fam120b |
T |
A |
17: 15,623,189 (GRCm39) |
M389K |
probably benign |
Het |
| Fam151a |
A |
G |
4: 106,605,128 (GRCm39) |
M497V |
probably benign |
Het |
| Fam186b |
C |
A |
15: 99,178,009 (GRCm39) |
G439V |
probably benign |
Het |
| Fank1 |
A |
G |
7: 133,478,494 (GRCm39) |
Y185C |
probably damaging |
Het |
| Gart |
T |
C |
16: 91,427,490 (GRCm39) |
|
probably benign |
Het |
| Glb1l |
T |
C |
1: 75,176,364 (GRCm39) |
Y572C |
probably damaging |
Het |
| Gm11563 |
C |
T |
11: 99,549,263 (GRCm39) |
A164T |
unknown |
Het |
| Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
| Gsdmc3 |
T |
A |
15: 63,731,542 (GRCm39) |
D330V |
probably damaging |
Het |
| H2-DMa |
C |
T |
17: 34,356,934 (GRCm39) |
T144M |
probably damaging |
Het |
| Haus6 |
A |
T |
4: 86,501,751 (GRCm39) |
F707I |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,469,767 (GRCm39) |
T4971S |
probably benign |
Het |
| Ints6 |
A |
T |
14: 62,934,208 (GRCm39) |
F766L |
probably benign |
Het |
| Kdm5d |
T |
A |
Y: 927,330 (GRCm39) |
M650K |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,087,166 (GRCm39) |
F881S |
possibly damaging |
Het |
| Klrk1 |
C |
A |
6: 129,591,598 (GRCm39) |
Q176H |
possibly damaging |
Het |
| Ky |
T |
C |
9: 102,414,820 (GRCm39) |
V244A |
probably benign |
Het |
| Miga2 |
T |
A |
2: 30,271,756 (GRCm39) |
|
probably benign |
Het |
| Mtss2 |
C |
T |
8: 111,464,580 (GRCm39) |
P322S |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,536,553 (GRCm39) |
|
probably benign |
Het |
| Ncbp3 |
T |
A |
11: 72,940,671 (GRCm39) |
|
probably benign |
Het |
| Nprl3 |
G |
A |
11: 32,184,876 (GRCm39) |
L378F |
probably damaging |
Het |
| Ntrk2 |
A |
T |
13: 58,994,635 (GRCm39) |
M184L |
probably benign |
Het |
| Or11g1 |
G |
T |
14: 50,651,154 (GRCm39) |
C51F |
probably benign |
Het |
| Or9e1 |
T |
G |
11: 58,732,269 (GRCm39) |
C110G |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,940,325 (GRCm39) |
E287G |
probably damaging |
Het |
| Parva |
T |
C |
7: 112,175,618 (GRCm39) |
F250L |
probably damaging |
Het |
| Pcdhb11 |
C |
T |
18: 37,554,864 (GRCm39) |
Q65* |
probably null |
Het |
| Phtf1 |
A |
G |
3: 103,901,081 (GRCm39) |
T377A |
probably damaging |
Het |
| Pkp4 |
G |
A |
2: 59,152,987 (GRCm39) |
V612I |
possibly damaging |
Het |
| Plscr2 |
C |
A |
9: 92,169,707 (GRCm39) |
S52R |
probably benign |
Het |
| Pnisr |
C |
T |
4: 21,874,092 (GRCm39) |
|
probably benign |
Het |
| Pole2 |
A |
C |
12: 69,256,653 (GRCm39) |
S291A |
probably damaging |
Het |
| Ppp2r5d |
A |
G |
17: 46,994,944 (GRCm39) |
F586L |
probably benign |
Het |
| Prrx1 |
G |
A |
1: 163,085,385 (GRCm39) |
R182C |
probably damaging |
Het |
| Ptprs |
A |
G |
17: 56,736,103 (GRCm39) |
I110T |
possibly damaging |
Het |
| Rasgrf2 |
G |
A |
13: 92,067,936 (GRCm39) |
|
probably benign |
Het |
| Resf1 |
A |
T |
6: 149,229,873 (GRCm39) |
Q973L |
probably damaging |
Het |
| Riox2 |
T |
C |
16: 59,312,255 (GRCm39) |
V464A |
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,764,690 (GRCm39) |
V646A |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 51,994,444 (GRCm39) |
I1279F |
probably damaging |
Het |
| Siglec1 |
G |
A |
2: 130,916,188 (GRCm39) |
T1254M |
probably benign |
Het |
| Snx7 |
T |
C |
3: 117,640,324 (GRCm39) |
N62D |
probably damaging |
Het |
| Sp100 |
G |
A |
1: 85,587,588 (GRCm39) |
|
probably null |
Het |
| Stil |
A |
T |
4: 114,864,356 (GRCm39) |
I86L |
possibly damaging |
Het |
| Tbc1d16 |
T |
A |
11: 119,099,864 (GRCm39) |
D170V |
probably benign |
Het |
| Trappc13 |
G |
A |
13: 104,297,589 (GRCm39) |
T105M |
probably damaging |
Het |
| Trhr |
T |
A |
15: 44,092,896 (GRCm39) |
S378T |
probably benign |
Het |
| Ttc7b |
T |
C |
12: 100,466,332 (GRCm39) |
|
probably null |
Het |
| Vegfc |
A |
T |
8: 54,610,174 (GRCm39) |
Y110F |
probably benign |
Het |
| Vmn1r184 |
C |
A |
7: 25,966,602 (GRCm39) |
P116H |
possibly damaging |
Het |
| Vmn2r5 |
A |
T |
3: 64,411,235 (GRCm39) |
C444* |
probably null |
Het |
| Zfp341 |
A |
G |
2: 154,476,193 (GRCm39) |
E460G |
possibly damaging |
Het |
| Zfp819 |
T |
A |
7: 43,265,868 (GRCm39) |
V41E |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACAAAACATCCTGGTGGCTAAAAGAA -3'
(R):5'- GGGACACAGTCAGGGAACTGACAAAT -3'
Sequencing Primer
(F):5'- gaggcagaggcaggtgg -3'
(R):5'- CAGTCAGGGAACTGACAAATCTATTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation