Incidental Mutation 'R9214:Mia2'
| ID |
699085 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R9214 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
59142368-59237006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 59223150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 486
(R486L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069430]
[ENSMUST00000170992]
[ENSMUST00000175877]
[ENSMUST00000175912]
[ENSMUST00000176322]
[ENSMUST00000176336]
[ENSMUST00000176892]
[ENSMUST00000176464]
[ENSMUST00000176752]
[ENSMUST00000177162]
[ENSMUST00000177225]
[ENSMUST00000219140]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069430
AA Change: R519L
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000070572
Gene: ENSMUSG00000021000
AA Change: R519L
| 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: R497L
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126538
Gene: ENSMUSG00000021000
AA Change: R497L
| 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 |
silent
Transcript: ENSMUST00000175837
|
| SMART Domains |
Protein: ENSMUSP00000134828
Gene: ENSMUSG00000021000
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fxkc_
|
3 |
90 |
5e-3 |
SMART |
|
| Predicted Effect |
probably benign
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 damaging
Transcript: ENSMUST00000175912
AA Change: R510L
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135251
Gene: ENSMUSG00000021000
AA Change: R510L
| 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: R530L
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135100
Gene: ENSMUSG00000021000
AA Change: R530L
| 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 damaging
Transcript: ENSMUST00000176336
AA Change: R486L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134872
Gene: ENSMUSG00000021000
AA Change: R486L
| 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: ENSMUST00000176892
AA Change: R486L
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135245
Gene: ENSMUSG00000021000
AA Change: R486L
| 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 damaging
Transcript: ENSMUST00000176464
AA Change: R521L
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135390
Gene: ENSMUSG00000021000
AA Change: R521L
| 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: 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: 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 benign
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 |
possibly damaging
Transcript: ENSMUST00000219140
AA Change: R1122L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (64/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
C |
9: 55,890,653 (GRCm39) |
D352G |
probably benign |
Het |
| Abi1 |
A |
T |
2: 22,831,989 (GRCm39) |
Y447* |
probably null |
Het |
| Acot1 |
A |
G |
12: 84,064,189 (GRCm39) |
Y124C |
|
Het |
| Adgrf4 |
T |
C |
17: 42,978,704 (GRCm39) |
N213S |
possibly damaging |
Het |
| Alg9 |
T |
A |
9: 50,717,545 (GRCm39) |
Y443N |
probably damaging |
Het |
| Bhlhe22 |
A |
G |
3: 18,109,024 (GRCm39) |
T25A |
probably benign |
Het |
| Bpifa1 |
C |
A |
2: 153,985,789 (GRCm39) |
P35T |
unknown |
Het |
| Btbd16 |
T |
C |
7: 130,381,437 (GRCm39) |
|
probably null |
Het |
| Ccdc187 |
G |
T |
2: 26,183,409 (GRCm39) |
T197K |
probably benign |
Het |
| Cd209b |
A |
G |
8: 3,968,771 (GRCm39) |
V295A |
probably benign |
Het |
| Cdcp3 |
C |
T |
7: 130,824,481 (GRCm39) |
S192L |
possibly damaging |
Het |
| Clrn2 |
G |
T |
5: 45,617,518 (GRCm39) |
A130S |
probably benign |
Het |
| Cnrip1 |
A |
G |
11: 17,004,740 (GRCm39) |
T97A |
probably damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,758,940 (GRCm39) |
T2089A |
possibly damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,523,273 (GRCm39) |
|
probably null |
Het |
| Ddx1 |
A |
G |
12: 13,286,119 (GRCm39) |
S278P |
probably benign |
Het |
| Dnah12 |
A |
C |
14: 26,445,060 (GRCm39) |
E654D |
probably benign |
Het |
| Efcab7 |
T |
C |
4: 99,735,437 (GRCm39) |
S154P |
probably damaging |
Het |
| Emcn |
T |
C |
3: 137,047,029 (GRCm39) |
F10S |
probably damaging |
Het |
| Fhip2a |
A |
G |
19: 57,373,756 (GRCm39) |
H672R |
probably damaging |
Het |
| Flg2 |
G |
T |
3: 93,110,884 (GRCm39) |
A971S |
unknown |
Het |
| Gli2 |
A |
T |
1: 118,795,791 (GRCm39) |
H121Q |
probably damaging |
Het |
| Gm3633 |
A |
G |
14: 42,460,359 (GRCm39) |
|
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,195,822 (GRCm39) |
L846P |
probably damaging |
Het |
| Golga7b |
A |
T |
19: 42,255,440 (GRCm39) |
I106F |
probably damaging |
Het |
| Hltf |
T |
C |
3: 20,140,280 (GRCm39) |
S460P |
probably benign |
Het |
| Hyal5 |
A |
G |
6: 24,876,403 (GRCm39) |
Y92C |
probably damaging |
Het |
| Kif19b |
G |
A |
5: 140,468,257 (GRCm39) |
R649Q |
probably benign |
Het |
| Mapk1 |
T |
A |
16: 16,853,549 (GRCm39) |
C84S |
probably benign |
Het |
| Marchf10 |
A |
G |
11: 105,281,100 (GRCm39) |
V395A |
probably benign |
Het |
| Meltf |
A |
G |
16: 31,697,763 (GRCm39) |
T7A |
probably benign |
Het |
| Mfhas1 |
T |
A |
8: 36,057,730 (GRCm39) |
V735D |
probably damaging |
Het |
| Mmp20 |
T |
C |
9: 7,628,327 (GRCm39) |
L25P |
probably benign |
Het |
| Mprip |
C |
T |
11: 59,650,901 (GRCm39) |
T1535I |
possibly damaging |
Het |
| Mrpl9 |
T |
A |
3: 94,355,126 (GRCm39) |
S233T |
possibly damaging |
Het |
| Muc21 |
T |
A |
17: 35,931,838 (GRCm39) |
S783C |
unknown |
Het |
| Nckap5 |
A |
C |
1: 125,942,376 (GRCm39) |
V1576G |
probably benign |
Het |
| Ntng1 |
T |
C |
3: 109,841,921 (GRCm39) |
Y284C |
probably damaging |
Het |
| Numa1 |
T |
A |
7: 101,650,139 (GRCm39) |
V1290D |
probably damaging |
Het |
| Or52l1 |
T |
G |
7: 104,829,587 (GRCm39) |
Y326S |
probably benign |
Het |
| Pcdhgc4 |
A |
T |
18: 37,950,264 (GRCm39) |
D560V |
probably damaging |
Het |
| Pla2g1b |
A |
G |
5: 115,610,107 (GRCm39) |
K84E |
possibly damaging |
Het |
| Pramel16 |
T |
C |
4: 143,675,750 (GRCm39) |
I359V |
probably benign |
Het |
| Prrt4 |
C |
T |
6: 29,170,767 (GRCm39) |
A562T |
possibly damaging |
Het |
| Rab6a |
T |
C |
7: 100,275,786 (GRCm39) |
F33S |
probably damaging |
Het |
| Rgs11 |
A |
G |
17: 26,427,260 (GRCm39) |
Y397C |
probably damaging |
Het |
| Rnf43 |
A |
T |
11: 87,622,111 (GRCm39) |
H277L |
probably benign |
Het |
| Ryr1 |
A |
G |
7: 28,785,187 (GRCm39) |
S1842P |
possibly damaging |
Het |
| Slc25a34 |
C |
T |
4: 141,350,641 (GRCm39) |
A123T |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,556,839 (GRCm39) |
Y96C |
probably damaging |
Het |
| Sqle |
A |
G |
15: 59,194,765 (GRCm39) |
E267G |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,440,869 (GRCm39) |
R1777H |
possibly damaging |
Het |
| Stx6 |
T |
A |
1: 155,067,210 (GRCm39) |
N133K |
probably benign |
Het |
| Taf7l2 |
T |
C |
10: 115,948,903 (GRCm39) |
T208A |
probably benign |
Het |
| Thoc5 |
A |
T |
11: 4,864,303 (GRCm39) |
Q320L |
probably benign |
Het |
| Tmc4 |
G |
C |
7: 3,670,497 (GRCm39) |
C531W |
probably damaging |
Het |
| Tmigd1 |
A |
G |
11: 76,801,031 (GRCm39) |
T173A |
probably damaging |
Het |
| Tpp2 |
A |
C |
1: 44,031,514 (GRCm39) |
M1111L |
probably benign |
Het |
| Ttc21a |
T |
C |
9: 119,772,941 (GRCm39) |
V206A |
probably benign |
Het |
| Ulk1 |
A |
T |
5: 110,936,663 (GRCm39) |
V758E |
possibly damaging |
Het |
| Vdr |
T |
A |
15: 97,767,600 (GRCm39) |
H130L |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,623,892 (GRCm39) |
T1270A |
probably damaging |
Het |
| Zc3h13 |
A |
G |
14: 75,560,991 (GRCm39) |
D527G |
unknown |
Het |
| Zfp512 |
C |
T |
5: 31,637,434 (GRCm39) |
R508W |
probably damaging |
Het |
| Zfp606 |
A |
G |
7: 12,215,026 (GRCm39) |
T85A |
unknown |
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 |
|
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 |
|
|
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'- CTGTGTAGTGTTCAGGGCAC -3'
(R):5'- TCACCTGCACTACACTGTG -3'
Sequencing Primer
(F):5'- TTCAGGGCACAGATTAGACTTAAGC -3'
(R):5'- TTAGTGGACCCTCCAACA -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation