Incidental Mutation 'R1706:Mia2'
| ID |
190088 |
| 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 |
039739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R1706 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
59142368-59237006 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 59191552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 716
(L716*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069430]
[ENSMUST00000170992]
[ENSMUST00000175877]
[ENSMUST00000175912]
[ENSMUST00000176322]
[ENSMUST00000176336]
[ENSMUST00000177162]
[ENSMUST00000176464]
[ENSMUST00000177225]
[ENSMUST00000177460]
[ENSMUST00000219140]
[ENSMUST00000177370]
[ENSMUST00000176727]
[ENSMUST00000176752]
[ENSMUST00000176892]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069430
AA Change: L113*
|
| SMART Domains |
Protein: ENSMUSP00000070572
Gene: ENSMUSG00000021000
AA Change: L113*
| 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 benign
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: ENSMUST00000175803
|
| 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 null
Transcript: ENSMUST00000175912
AA Change: L113*
|
| SMART Domains |
Protein: ENSMUSP00000135251
Gene: ENSMUSG00000021000
AA Change: L113*
| 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
AA Change: L124*
|
| SMART Domains |
Protein: ENSMUSP00000135100
Gene: ENSMUSG00000021000
AA Change: L124*
| 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: ENSMUST00000176336
AA Change: L89*
|
| SMART Domains |
Protein: ENSMUSP00000134872
Gene: ENSMUSG00000021000
AA Change: L89*
| 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: ENSMUST00000177162
AA Change: L124*
|
| SMART Domains |
Protein: ENSMUSP00000135001
Gene: ENSMUSG00000021000
AA Change: L124*
| 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
AA Change: L124*
|
| SMART Domains |
Protein: ENSMUSP00000135390
Gene: ENSMUSG00000021000
AA Change: L124*
| 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
AA Change: L96*
|
| SMART Domains |
Protein: ENSMUSP00000135618
Gene: ENSMUSG00000021000
AA Change: L96*
| 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: ENSMUST00000177460
AA Change: L118*
|
| SMART Domains |
Protein: ENSMUSP00000134887
Gene: ENSMUSG00000021000
AA Change: L118*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
coiled coil region
|
84 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219140
AA Change: L716*
|
| 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 |
|
| 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 benign
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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
100% (60/60) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
C |
18: 6,624,059 (GRCm39) |
|
probably benign |
Het |
| 4931406C07Rik |
G |
A |
9: 15,209,153 (GRCm39) |
T47I |
probably damaging |
Het |
| Adcy2 |
T |
A |
13: 68,868,865 (GRCm39) |
N558I |
probably damaging |
Het |
| Ago3 |
G |
A |
4: 126,264,085 (GRCm39) |
P374S |
probably damaging |
Het |
| Ak8 |
T |
C |
2: 28,650,007 (GRCm39) |
C345R |
possibly damaging |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| BC005624 |
T |
C |
2: 30,868,922 (GRCm39) |
E84G |
possibly damaging |
Het |
| Cav1 |
T |
C |
6: 17,339,181 (GRCm39) |
F89L |
probably damaging |
Het |
| Cfap206 |
G |
A |
4: 34,688,875 (GRCm39) |
P593L |
probably damaging |
Het |
| Clcn6 |
G |
A |
4: 148,102,025 (GRCm39) |
T353I |
probably benign |
Het |
| Cstl1 |
G |
A |
2: 148,593,079 (GRCm39) |
|
probably null |
Het |
| Cyp2d10 |
A |
C |
15: 82,289,783 (GRCm39) |
S140A |
probably damaging |
Het |
| D130052B06Rik |
G |
A |
11: 33,566,230 (GRCm39) |
R18H |
unknown |
Het |
| Ddi2 |
A |
G |
4: 141,411,308 (GRCm39) |
F535L |
probably benign |
Het |
| Dop1a |
C |
T |
9: 86,436,133 (GRCm39) |
T2383M |
possibly damaging |
Het |
| Duox1 |
A |
G |
2: 122,149,953 (GRCm39) |
T115A |
probably benign |
Het |
| Ercc6l2 |
T |
A |
13: 64,020,272 (GRCm39) |
|
probably benign |
Het |
| Gm7052 |
A |
G |
17: 22,258,823 (GRCm39) |
|
probably benign |
Het |
| Gm9925 |
G |
A |
18: 74,198,573 (GRCm39) |
|
probably benign |
Het |
| Gnas |
T |
A |
2: 174,141,768 (GRCm39) |
S646T |
possibly damaging |
Het |
| Gpatch3 |
T |
A |
4: 133,302,484 (GRCm39) |
C138* |
probably null |
Het |
| Igsf8 |
C |
T |
1: 172,144,972 (GRCm39) |
R100C |
probably damaging |
Het |
| Kcnh3 |
A |
G |
15: 99,135,959 (GRCm39) |
K652R |
possibly damaging |
Het |
| Kcnn4 |
T |
A |
7: 24,074,167 (GRCm39) |
V77E |
probably damaging |
Het |
| Kif13b |
T |
A |
14: 64,998,115 (GRCm39) |
|
probably benign |
Het |
| Lca5l |
T |
C |
16: 95,977,164 (GRCm39) |
N214S |
probably benign |
Het |
| Luc7l3 |
T |
C |
11: 94,188,582 (GRCm39) |
|
probably benign |
Het |
| Lypd3 |
T |
C |
7: 24,339,755 (GRCm39) |
I274T |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,264,377 (GRCm39) |
|
probably null |
Het |
| Mchr1 |
A |
G |
15: 81,121,364 (GRCm39) |
Y38C |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,302,295 (GRCm39) |
L913P |
probably benign |
Het |
| Mug2 |
T |
A |
6: 122,013,191 (GRCm39) |
|
probably benign |
Het |
| Neu3 |
A |
G |
7: 99,472,563 (GRCm39) |
L58P |
probably damaging |
Het |
| Or4p23 |
G |
A |
2: 88,576,482 (GRCm39) |
P250L |
probably damaging |
Het |
| Or8h9 |
A |
T |
2: 86,789,424 (GRCm39) |
I126N |
probably damaging |
Het |
| Pak1ip1 |
T |
C |
13: 41,166,164 (GRCm39) |
V363A |
probably benign |
Het |
| Pcdhb16 |
A |
G |
18: 37,612,705 (GRCm39) |
D555G |
probably benign |
Het |
| Pygb |
G |
A |
2: 150,669,067 (GRCm39) |
G671D |
probably damaging |
Het |
| Rab30 |
A |
T |
7: 92,478,875 (GRCm39) |
I79L |
possibly damaging |
Het |
| Rab44 |
C |
A |
17: 29,357,080 (GRCm39) |
T70K |
probably damaging |
Het |
| Rccd1 |
C |
G |
7: 79,970,411 (GRCm39) |
G69R |
possibly damaging |
Het |
| Sema5b |
T |
C |
16: 35,470,125 (GRCm39) |
V329A |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Slc22a14 |
T |
C |
9: 119,010,050 (GRCm39) |
N15S |
probably benign |
Het |
| Smurf2 |
G |
A |
11: 106,715,573 (GRCm39) |
H632Y |
probably damaging |
Het |
| Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Tgm6 |
T |
C |
2: 129,987,079 (GRCm39) |
C516R |
possibly damaging |
Het |
| Tmprss9 |
T |
C |
10: 80,734,021 (GRCm39) |
|
probably benign |
Het |
| Trim67 |
A |
G |
8: 125,521,160 (GRCm39) |
N174S |
probably damaging |
Het |
| Ttc8 |
C |
A |
12: 98,910,142 (GRCm39) |
T123K |
probably benign |
Het |
| Ugt1a7c |
T |
A |
1: 88,023,447 (GRCm39) |
M202K |
probably damaging |
Het |
| Vmn2r7 |
T |
A |
3: 64,598,880 (GRCm39) |
H559L |
possibly damaging |
Het |
| Zfp511 |
A |
G |
7: 139,617,192 (GRCm39) |
D96G |
probably benign |
Het |
| Zfp868 |
A |
G |
8: 70,065,060 (GRCm39) |
Y92H |
probably benign |
Het |
| Zzz3 |
T |
A |
3: 152,154,735 (GRCm39) |
D633E |
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 |
|
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 |
|
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'- TGTCACAGTGGTTAGATGGCAGAAC -3'
(R):5'- CGTCTCCTTCCTGAAGCAAGCAATG -3'
Sequencing Primer
(F):5'- CTAAGCTCAGAGTTTGCTTCACAG -3'
(R):5'- AGGAGCCATCTCTTCAATGC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation