Incidental Mutation 'R5156:Mia2'
| ID |
396744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mia2
|
| Ensembl Gene |
ENSMUSG00000021000 |
| Gene Name |
melanoma inhibitory activity 2 |
| Synonyms |
|
| MMRRC Submission |
042738-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R5156 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
59095799-59191583 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59172537 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 436
(T436A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135618
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069430]
[ENSMUST00000170992]
[ENSMUST00000175877]
[ENSMUST00000175912]
[ENSMUST00000176322]
[ENSMUST00000176336]
[ENSMUST00000176464]
[ENSMUST00000176727]
[ENSMUST00000176892]
[ENSMUST00000177162]
[ENSMUST00000177225]
[ENSMUST00000219140]
[ENSMUST00000176752]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069430
AA Change: T462A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000070572
Gene: ENSMUSG00000021000
AA Change: T462A
| 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
AA Change: T440A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126538
Gene: ENSMUSG00000021000
AA Change: T440A
| 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 |
unknown
Transcript: ENSMUST00000175837
AA Change: T114A
|
| SMART Domains |
Protein: ENSMUSP00000134828
Gene: ENSMUSG00000021000
AA Change: T114A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fxkc_
|
3 |
90 |
5e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175877
AA Change: T412A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000135440
Gene: ENSMUSG00000021000
AA Change: T412A
| 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: T453A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135251
Gene: ENSMUSG00000021000
AA Change: T453A
| 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 benign
Transcript: ENSMUST00000176322
AA Change: T473A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135100
Gene: ENSMUSG00000021000
AA Change: T473A
| 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
AA Change: T429A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000134872
Gene: ENSMUSG00000021000
AA Change: T429A
| 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: T464A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135390
Gene: ENSMUSG00000021000
AA Change: T464A
| 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 |
silent
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 |
noncoding transcript
Transcript: ENSMUST00000177222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176892
AA Change: T429A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135245
Gene: ENSMUSG00000021000
AA Change: T429A
| 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: T464A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135001
Gene: ENSMUSG00000021000
AA Change: T464A
| 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 |
possibly damaging
Transcript: ENSMUST00000177225
AA Change: T436A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135618
Gene: ENSMUSG00000021000
AA Change: T436A
| 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: T1065A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010F05Rik |
A |
G |
11: 23,593,424 |
|
probably null |
Het |
| 4921513D11Rik |
G |
T |
17: 79,628,209 |
|
probably benign |
Het |
| Apeh |
C |
T |
9: 108,094,287 |
A29T |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,669,181 |
Y1013* |
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,723,274 |
E537G |
unknown |
Het |
| Asf1b |
T |
C |
8: 83,955,911 |
F28S |
probably damaging |
Het |
| Cd46 |
T |
A |
1: 195,085,385 |
I123L |
possibly damaging |
Het |
| Cdca7 |
A |
T |
2: 72,479,026 |
T48S |
probably damaging |
Het |
| Cfap53 |
T |
A |
18: 74,359,767 |
|
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,805,838 |
T599S |
probably benign |
Het |
| Csf1 |
T |
A |
3: 107,748,936 |
T148S |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 131,097,670 |
|
probably null |
Het |
| Dmpk |
A |
G |
7: 19,084,125 |
D44G |
probably damaging |
Het |
| Dnajb12 |
T |
A |
10: 59,892,960 |
N223K |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,628,830 |
M1392K |
probably benign |
Het |
| Edrf1 |
C |
T |
7: 133,660,179 |
A867V |
probably damaging |
Het |
| Efemp2 |
T |
A |
19: 5,477,678 |
C94S |
possibly damaging |
Het |
| Epha8 |
C |
T |
4: 136,938,726 |
S373N |
probably benign |
Het |
| Foxk1 |
A |
G |
5: 142,448,833 |
D284G |
possibly damaging |
Het |
| Fzd10 |
C |
A |
5: 128,601,302 |
R29S |
possibly damaging |
Het |
| Gm13991 |
T |
C |
2: 116,528,184 |
|
noncoding transcript |
Het |
| Gm6818 |
A |
T |
7: 38,402,047 |
|
noncoding transcript |
Het |
| Hydin |
T |
A |
8: 110,609,701 |
C5037S |
probably benign |
Het |
| Ikzf1 |
T |
A |
11: 11,769,448 |
M492K |
probably damaging |
Het |
| Krt20 |
G |
T |
11: 99,430,053 |
S394R |
possibly damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,745,787 |
R107S |
probably benign |
Het |
| Muc19 |
T |
A |
15: 91,900,420 |
|
noncoding transcript |
Het |
| Neu4 |
T |
C |
1: 94,024,455 |
V182A |
probably damaging |
Het |
| Notch2 |
T |
G |
3: 98,124,310 |
F1167V |
possibly damaging |
Het |
| Nrap |
A |
G |
19: 56,371,845 |
M189T |
possibly damaging |
Het |
| Nt5m |
A |
T |
11: 59,874,661 |
I172F |
probably damaging |
Het |
| Olfr1138 |
G |
A |
2: 87,737,775 |
P183L |
possibly damaging |
Het |
| Olfr1474 |
G |
T |
19: 13,471,673 |
K234N |
probably damaging |
Het |
| Olfr228 |
A |
T |
2: 86,483,018 |
C241* |
probably null |
Het |
| Plekha5 |
C |
T |
6: 140,426,528 |
T68M |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,244,602 |
|
probably null |
Het |
| Ppp1r37 |
T |
C |
7: 19,561,975 |
|
probably benign |
Het |
| Rfx4 |
T |
C |
10: 84,868,354 |
Y238H |
probably damaging |
Het |
| Sec13 |
G |
A |
6: 113,730,876 |
A161V |
probably benign |
Het |
| Serhl |
G |
A |
15: 83,102,694 |
|
probably benign |
Het |
| Slco4a1 |
T |
C |
2: 180,472,779 |
V588A |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 73,049,259 |
T727A |
probably benign |
Het |
| Sp100 |
T |
A |
1: 85,673,683 |
D241E |
probably damaging |
Het |
| Spata2 |
G |
T |
2: 167,483,574 |
H442N |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,428,087 |
V2588A |
probably damaging |
Het |
| Tnfsf12 |
A |
G |
11: 69,687,329 |
S141P |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,390,694 |
I2166M |
probably damaging |
Het |
| Trim10 |
T |
A |
17: 36,877,056 |
V388E |
probably damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,550 |
T30K |
possibly damaging |
Het |
| Vmn2r10 |
A |
G |
5: 108,995,600 |
V828A |
probably benign |
Het |
| Vmn2r75 |
T |
A |
7: 86,164,228 |
L455F |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 78,984,226 |
S541T |
probably benign |
Het |
|
| Other mutations in Mia2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00717:Mia2
|
APN |
12 |
59160273 |
splice site |
probably benign |
|
|
IGL00791:Mia2
|
APN |
12 |
59108299 |
missense |
possibly damaging |
0.82 |
|
IGL00821:Mia2
|
APN |
12 |
59170320 |
critical splice donor site |
probably null |
|
|
IGL00901:Mia2
|
APN |
12 |
59108029 |
missense |
probably damaging |
1.00 |
|
IGL00985:Mia2
|
APN |
12 |
59188360 |
missense |
probably damaging |
1.00 |
|
IGL01304:Mia2
|
APN |
12 |
59104538 |
missense |
probably damaging |
1.00 |
|
IGL01909:Mia2
|
APN |
12 |
59107945 |
missense |
possibly damaging |
0.94 |
|
IGL02646:Mia2
|
APN |
12 |
59108836 |
missense |
probably damaging |
1.00 |
|
IGL02800:Mia2
|
APN |
12 |
59188491 |
nonsense |
probably null |
|
|
IGL03332:Mia2
|
APN |
12 |
59108398 |
missense |
probably damaging |
0.97 |
|
PIT4812001:Mia2
|
UTSW |
12 |
59101579 |
missense |
possibly damaging |
0.92 |
|
R0242:Mia2
|
UTSW |
12 |
59108856 |
missense |
probably damaging |
1.00 |
|
R0242:Mia2
|
UTSW |
12 |
59108856 |
missense |
probably damaging |
1.00 |
|
R0449:Mia2
|
UTSW |
12 |
59172594 |
critical splice donor site |
probably null |
|
|
R0620:Mia2
|
UTSW |
12 |
59154419 |
missense |
possibly damaging |
0.96 |
|
R0622:Mia2
|
UTSW |
12 |
59131578 |
missense |
probably damaging |
0.98 |
|
R0632:Mia2
|
UTSW |
12 |
59136143 |
missense |
probably damaging |
0.99 |
|
R1643:Mia2
|
UTSW |
12 |
59179845 |
splice site |
probably null |
|
|
R1654:Mia2
|
UTSW |
12 |
59108833 |
missense |
possibly damaging |
0.92 |
|
R1706:Mia2
|
UTSW |
12 |
59144766 |
nonsense |
probably null |
|
|
R1776:Mia2
|
UTSW |
12 |
59149575 |
splice site |
probably benign |
|
|
R1848:Mia2
|
UTSW |
12 |
59170251 |
splice site |
probably benign |
|
|
R2240:Mia2
|
UTSW |
12 |
59107882 |
missense |
probably benign |
0.01 |
|
R2698:Mia2
|
UTSW |
12 |
59170994 |
critical splice donor site |
probably null |
|
|
R2860:Mia2
|
UTSW |
12 |
59154410 |
missense |
probably damaging |
0.98 |
|
R2861:Mia2
|
UTSW |
12 |
59154410 |
missense |
probably damaging |
0.98 |
|
R2862:Mia2
|
UTSW |
12 |
59154410 |
missense |
probably damaging |
0.98 |
|
R3429:Mia2
|
UTSW |
12 |
59189641 |
missense |
possibly damaging |
0.89 |
|
R3861:Mia2
|
UTSW |
12 |
59109021 |
missense |
probably benign |
0.00 |
|
R3965:Mia2
|
UTSW |
12 |
59176372 |
missense |
probably damaging |
1.00 |
|
R5249:Mia2
|
UTSW |
12 |
59108125 |
missense |
probably damaging |
0.99 |
|
R5330:Mia2
|
UTSW |
12 |
59095812 |
missense |
probably benign |
0.01 |
|
R5331:Mia2
|
UTSW |
12 |
59095812 |
missense |
probably benign |
0.01 |
|
R5815:Mia2
|
UTSW |
12 |
59174106 |
missense |
possibly damaging |
0.95 |
|
R5972:Mia2
|
UTSW |
12 |
59146937 |
missense |
probably damaging |
1.00 |
|
R6651:Mia2
|
UTSW |
12 |
59154362 |
missense |
possibly damaging |
0.78 |
|
R6676:Mia2
|
UTSW |
12 |
59108370 |
missense |
probably damaging |
0.97 |
|
R6695:Mia2
|
UTSW |
12 |
59172580 |
missense |
probably damaging |
0.99 |
|
R6800:Mia2
|
UTSW |
12 |
59188546 |
critical splice donor site |
probably null |
|
|
R6845:Mia2
|
UTSW |
12 |
59184278 |
nonsense |
probably null |
|
|
R6919:Mia2
|
UTSW |
12 |
59129895 |
missense |
possibly damaging |
0.74 |
|
R7058:Mia2
|
UTSW |
12 |
59184235 |
missense |
possibly damaging |
0.77 |
|
R7209:Mia2
|
UTSW |
12 |
59154390 |
missense |
possibly damaging |
0.55 |
|
R7274:Mia2
|
UTSW |
12 |
59108119 |
missense |
probably damaging |
0.99 |
|
R7291:Mia2
|
UTSW |
12 |
59158369 |
critical splice donor site |
probably null |
|
|
R7874:Mia2
|
UTSW |
12 |
59108588 |
missense |
probably damaging |
0.99 |
|
R7894:Mia2
|
UTSW |
12 |
59189647 |
missense |
probably damaging |
1.00 |
|
R7961:Mia2
|
UTSW |
12 |
59159639 |
critical splice donor site |
probably null |
|
|
R7980:Mia2
|
UTSW |
12 |
59108865 |
missense |
probably damaging |
0.98 |
|
R8110:Mia2
|
UTSW |
12 |
59109087 |
splice site |
probably null |
|
|
R8557:Mia2
|
UTSW |
12 |
59101488 |
missense |
probably damaging |
0.97 |
|
R9031:Mia2
|
UTSW |
12 |
59108800 |
missense |
probably damaging |
1.00 |
|
R9077:Mia2
|
UTSW |
12 |
59179974 |
missense |
possibly damaging |
0.94 |
|
R9113:Mia2
|
UTSW |
12 |
59170267 |
utr 3 prime |
probably benign |
|
|
R9214:Mia2
|
UTSW |
12 |
59176364 |
missense |
possibly damaging |
0.92 |
|
R9433:Mia2
|
UTSW |
12 |
59101585 |
missense |
probably damaging |
1.00 |
|
X0063:Mia2
|
UTSW |
12 |
59136139 |
missense |
probably damaging |
0.99 |
|
Z1176:Mia2
|
UTSW |
12 |
59108124 |
missense |
probably benign |
0.27 |
|
Z1176:Mia2
|
UTSW |
12 |
59108801 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGCATGAAACTCATTCCTC -3'
(R):5'- AAAGTGCCACTGTAGTAGCC -3'
Sequencing Primer
(F):5'- GGCATGAAACTCATTCCTCTATTG -3'
(R):5'- GAGATTCTGTGGGAACTACAA -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation