Incidental Mutation 'R7058:Mia2'
| ID |
548084 |
| 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 |
045155-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R7058 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
59142368-59237006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59231021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 1223
(P1223L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151482
(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 |
probably benign
Transcript: ENSMUST00000069430
AA Change: P620L
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000070572
Gene: ENSMUSG00000021000
AA Change: P620L
| 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: P598L
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000126538
Gene: ENSMUSG00000021000
AA Change: P598L
| 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 benign
Transcript: ENSMUST00000175877
AA Change: P527L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000135440
Gene: ENSMUSG00000021000
AA Change: P527L
| 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 benign
Transcript: ENSMUST00000175912
AA Change: P611L
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000135251
Gene: ENSMUSG00000021000
AA Change: P611L
| 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 benign
Transcript: ENSMUST00000176322
AA Change: P631L
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000135100
Gene: ENSMUSG00000021000
AA Change: P631L
| 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 benign
Transcript: ENSMUST00000176892
AA Change: P587L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135245
Gene: ENSMUSG00000021000
AA Change: P587L
| 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 benign
Transcript: ENSMUST00000176464
AA Change: P622L
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000135390
Gene: ENSMUSG00000021000
AA Change: P622L
| 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
AA Change: P579L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135001
Gene: ENSMUSG00000021000
AA Change: P579L
| 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
AA Change: P551L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135618
Gene: ENSMUSG00000021000
AA Change: P551L
| 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: P1223L
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (87/87) |
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
C |
7: 41,275,554 (GRCm39) |
I419T |
possibly damaging |
Het |
| Afap1 |
T |
C |
5: 36,119,604 (GRCm39) |
V294A |
probably benign |
Het |
| Amotl1 |
T |
A |
9: 14,486,532 (GRCm39) |
Q454L |
possibly damaging |
Het |
| Ap2a1 |
T |
C |
7: 44,550,215 (GRCm39) |
S961G |
probably damaging |
Het |
| Asxl3 |
A |
G |
18: 22,650,731 (GRCm39) |
K907E |
probably damaging |
Het |
| BC028528 |
A |
T |
3: 95,792,323 (GRCm39) |
L137I |
possibly damaging |
Het |
| Cand1 |
A |
T |
10: 119,047,659 (GRCm39) |
N610K |
probably benign |
Het |
| Cat |
A |
G |
2: 103,304,698 (GRCm39) |
I109T |
probably benign |
Het |
| Ccdc18 |
T |
C |
5: 108,341,664 (GRCm39) |
V853A |
probably benign |
Het |
| Chd4 |
C |
A |
6: 125,085,405 (GRCm39) |
D805E |
possibly damaging |
Het |
| Cnih1 |
A |
C |
14: 47,017,652 (GRCm39) |
F77V |
probably damaging |
Het |
| Cntd1 |
A |
T |
11: 101,178,252 (GRCm39) |
I284F |
probably damaging |
Het |
| Col6a3 |
C |
A |
1: 90,755,759 (GRCm39) |
E177* |
probably null |
Het |
| Cpxm2 |
T |
A |
7: 131,745,408 (GRCm39) |
D139V |
probably benign |
Het |
| Cyp1a2 |
G |
T |
9: 57,584,525 (GRCm39) |
R510S |
probably damaging |
Het |
| D2hgdh |
T |
C |
1: 93,763,096 (GRCm39) |
S294P |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,406,228 (GRCm39) |
C2335R |
probably benign |
Het |
| Disc1 |
G |
T |
8: 125,977,724 (GRCm39) |
C719F |
probably damaging |
Het |
| Dnah14 |
A |
C |
1: 181,525,614 (GRCm39) |
D2180A |
probably benign |
Het |
| Dop1b |
G |
A |
16: 93,573,878 (GRCm39) |
R1582Q |
probably benign |
Het |
| Dsg2 |
A |
T |
18: 20,725,332 (GRCm39) |
H481L |
probably benign |
Het |
| Epha6 |
A |
G |
16: 59,503,013 (GRCm39) |
S965P |
probably damaging |
Het |
| Esrrg |
G |
T |
1: 187,882,503 (GRCm39) |
L253F |
probably damaging |
Het |
| Exoc6b |
T |
C |
6: 84,831,704 (GRCm39) |
K438R |
probably damaging |
Het |
| Fam98a |
C |
A |
17: 75,845,384 (GRCm39) |
R454L |
unknown |
Het |
| Fam98c |
A |
T |
7: 28,855,308 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| Galnt13 |
A |
G |
2: 54,988,587 (GRCm39) |
T470A |
probably damaging |
Het |
| Ggt7 |
A |
T |
2: 155,345,015 (GRCm39) |
|
probably null |
Het |
| Golim4 |
T |
C |
3: 75,785,957 (GRCm39) |
E606G |
probably damaging |
Het |
| Gpd2 |
G |
A |
2: 57,197,112 (GRCm39) |
|
probably null |
Het |
| Grin2b |
T |
C |
6: 135,757,304 (GRCm39) |
M386V |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,059,306 (GRCm39) |
S239T |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,649,641 (GRCm39) |
T615I |
probably benign |
Het |
| Hook2 |
G |
A |
8: 85,724,040 (GRCm39) |
E446K |
possibly damaging |
Het |
| Hsd3b1 |
C |
T |
3: 98,765,131 (GRCm39) |
|
probably null |
Het |
| Igsf9b |
A |
G |
9: 27,234,150 (GRCm39) |
Y421C |
probably damaging |
Het |
| Il21 |
A |
G |
3: 37,286,629 (GRCm39) |
L29P |
probably damaging |
Het |
| Ildr1 |
A |
G |
16: 36,542,730 (GRCm39) |
S421G |
probably benign |
Het |
| Kat2b |
C |
A |
17: 53,972,894 (GRCm39) |
T736K |
probably benign |
Het |
| Kcng1 |
A |
G |
2: 168,104,529 (GRCm39) |
V439A |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,833,106 (GRCm39) |
|
probably null |
Het |
| Lat |
A |
G |
7: 125,968,318 (GRCm39) |
|
probably null |
Het |
| Mastl |
T |
A |
2: 23,023,425 (GRCm39) |
K433* |
probably null |
Het |
| Mettl2 |
A |
G |
11: 105,019,719 (GRCm39) |
R119G |
probably benign |
Het |
| Mkrn2os |
G |
T |
6: 115,563,635 (GRCm39) |
D133E |
probably benign |
Het |
| Mslnl |
A |
G |
17: 25,962,186 (GRCm39) |
T195A |
probably benign |
Het |
| Muc16 |
T |
G |
9: 18,551,051 (GRCm39) |
T5081P |
probably benign |
Het |
| Mylpf |
G |
C |
7: 126,813,139 (GRCm39) |
R110P |
probably damaging |
Het |
| Myo19 |
G |
T |
11: 84,798,194 (GRCm39) |
C738F |
possibly damaging |
Het |
| Nat8f4 |
T |
A |
6: 85,878,271 (GRCm39) |
N84I |
possibly damaging |
Het |
| Nol8 |
C |
T |
13: 49,829,862 (GRCm39) |
R1104C |
probably damaging |
Het |
| Notch1 |
A |
T |
2: 26,353,830 (GRCm39) |
D1932E |
probably benign |
Het |
| Nsun3 |
A |
T |
16: 62,596,663 (GRCm39) |
C152S |
possibly damaging |
Het |
| Opcml |
G |
A |
9: 28,586,507 (GRCm39) |
W75* |
probably null |
Het |
| Or14j10 |
A |
G |
17: 37,934,597 (GRCm39) |
F310L |
probably benign |
Het |
| Pcdh7 |
G |
A |
5: 57,879,582 (GRCm39) |
E1046K |
probably damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,536,334 (GRCm39) |
V776D |
probably benign |
Het |
| Pla2g4a |
A |
G |
1: 149,727,103 (GRCm39) |
L551S |
probably damaging |
Het |
| Plaa |
G |
A |
4: 94,458,060 (GRCm39) |
Q637* |
probably null |
Het |
| Plekhh1 |
A |
T |
12: 79,122,204 (GRCm39) |
E1099V |
probably damaging |
Het |
| Ppp4r1 |
A |
T |
17: 66,136,495 (GRCm39) |
N551Y |
probably benign |
Het |
| R3hdm2 |
T |
C |
10: 127,320,382 (GRCm39) |
V554A |
probably damaging |
Het |
| Rab44 |
A |
G |
17: 29,357,150 (GRCm39) |
|
probably null |
Het |
| Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,034,521 (GRCm39) |
T1119A |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,449,044 (GRCm39) |
D1194G |
probably damaging |
Het |
| Scarb1 |
A |
T |
5: 125,374,294 (GRCm39) |
C280S |
probably damaging |
Het |
| Sde2 |
T |
C |
1: 180,693,827 (GRCm39) |
F439S |
probably damaging |
Het |
| Setd5 |
T |
C |
6: 113,092,532 (GRCm39) |
I304T |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,449,896 (GRCm39) |
E1106G |
probably benign |
Het |
| Sis |
T |
G |
3: 72,810,940 (GRCm39) |
S1694R |
probably damaging |
Het |
| Smad9 |
T |
A |
3: 54,693,614 (GRCm39) |
F181Y |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,797,502 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
C |
6: 48,425,516 (GRCm39) |
Y46H |
probably damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,177,534 (GRCm39) |
M940T |
unknown |
Het |
| Tmem44 |
G |
T |
16: 30,366,213 (GRCm39) |
T71K |
possibly damaging |
Het |
| Tmf1 |
T |
A |
6: 97,133,911 (GRCm39) |
E1009V |
probably damaging |
Het |
| Ttc39a |
C |
T |
4: 109,288,763 (GRCm39) |
R288W |
probably damaging |
Het |
| Ttc9c |
G |
A |
19: 8,796,191 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
T |
A |
9: 48,950,456 (GRCm39) |
Y634N |
probably damaging |
Het |
| Vmn1r211 |
C |
T |
13: 23,036,063 (GRCm39) |
M201I |
probably benign |
Het |
| Vmn2r54 |
T |
A |
7: 12,349,722 (GRCm39) |
Q620L |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,831,110 (GRCm39) |
L1580P |
probably benign |
Het |
| Vrk3 |
C |
A |
7: 44,417,890 (GRCm39) |
F308L |
probably damaging |
Het |
| Zdbf2 |
T |
A |
1: 63,346,563 (GRCm39) |
H1647Q |
possibly damaging |
Het |
| Zfp984 |
A |
T |
4: 147,840,002 (GRCm39) |
M283K |
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 |
|
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'- TCTAATGGGTCAAAGTATGCAAGGG -3'
(R):5'- TGAGGTAACCACTCTCTTAGCC -3'
Sequencing Primer
(F):5'- GTCAAAGTATGCAAGGGTTACTTTTC -3'
(R):5'- AGCCTCTCGGTTCAATTCACAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation