Incidental Mutation 'R0632:Mia2'
| ID |
59734 |
| 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 |
038821-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R0632 (G1)
|
| Quality Score |
209 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
59142368-59237006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59182929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 36
(L36P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069430]
[ENSMUST00000170992]
[ENSMUST00000175877]
[ENSMUST00000175912]
[ENSMUST00000176322]
[ENSMUST00000177370]
[ENSMUST00000177460]
[ENSMUST00000177162]
[ENSMUST00000176464]
[ENSMUST00000177225]
[ENSMUST00000176752]
[ENSMUST00000176727]
[ENSMUST00000176892]
[ENSMUST00000176336]
[ENSMUST00000219140]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069430
AA Change: L36P
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000070572
Gene: ENSMUSG00000021000
AA Change: L36P
| 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 |
noncoding transcript
Transcript: ENSMUST00000104317
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170992
AA Change: L47P
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000126538
Gene: ENSMUSG00000021000
AA Change: L47P
| 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 |
possibly damaging
Transcript: ENSMUST00000175877
AA Change: L19P
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000135440
Gene: ENSMUSG00000021000
AA Change: L19P
| 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: L36P
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135251
Gene: ENSMUSG00000021000
AA Change: L36P
| 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: L47P
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135100
Gene: ENSMUSG00000021000
AA Change: L47P
| 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: ENSMUST00000177370
AA Change: L36P
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135179
Gene: ENSMUSG00000021000
AA Change: L36P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
|
coiled coil region
|
95 |
167 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177460
AA Change: L41P
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134887
Gene: ENSMUSG00000021000
AA Change: L41P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
coiled coil region
|
84 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177162
AA Change: L47P
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135001
Gene: ENSMUSG00000021000
AA Change: L47P
| 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: ENSMUST00000176464
AA Change: L47P
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135390
Gene: ENSMUSG00000021000
AA Change: L47P
| 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: L19P
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135618
Gene: ENSMUSG00000021000
AA Change: L19P
| 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 damaging
Transcript: ENSMUST00000176752
AA Change: L36P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134972
Gene: ENSMUSG00000021000
AA Change: L36P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176727
AA Change: L36P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135694
Gene: ENSMUSG00000021000
AA Change: L36P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176892
AA Change: L36P
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000135245
Gene: ENSMUSG00000021000
AA Change: L36P
| 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: ENSMUST00000176336
AA Change: L12P
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000134872
Gene: ENSMUSG00000021000
AA Change: L12P
| 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: ENSMUST00000219140
AA Change: L639P
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
| Validation Efficiency |
95% (81/85) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1a |
T |
A |
9: 119,176,884 (GRCm39) |
|
probably benign |
Het |
| Adgrg7 |
T |
A |
16: 56,562,952 (GRCm39) |
T462S |
possibly damaging |
Het |
| Akap6 |
A |
T |
12: 52,983,931 (GRCm39) |
N825I |
probably damaging |
Het |
| Ankib1 |
T |
A |
5: 3,822,529 (GRCm39) |
N59I |
probably benign |
Het |
| Anks6 |
T |
C |
4: 47,033,167 (GRCm39) |
S633G |
possibly damaging |
Het |
| Ap4e1 |
C |
A |
2: 126,891,200 (GRCm39) |
Y522* |
probably null |
Het |
| Art5 |
G |
A |
7: 101,747,164 (GRCm39) |
T205I |
probably damaging |
Het |
| Ascc2 |
T |
A |
11: 4,599,855 (GRCm39) |
L176H |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,117,026 (GRCm39) |
D529G |
probably benign |
Het |
| C2cd4a |
T |
C |
9: 67,738,845 (GRCm39) |
E66G |
probably benign |
Het |
| C8a |
T |
C |
4: 104,713,689 (GRCm39) |
D147G |
probably damaging |
Het |
| Ccdc14 |
T |
C |
16: 34,542,019 (GRCm39) |
V532A |
possibly damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,432,749 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
C |
T |
10: 92,720,958 (GRCm39) |
E2543K |
unknown |
Het |
| Cldn13 |
C |
T |
5: 134,943,601 (GRCm39) |
E195K |
probably benign |
Het |
| Cp |
A |
G |
3: 20,025,246 (GRCm39) |
S402G |
probably null |
Het |
| Cpa3 |
T |
C |
3: 20,279,358 (GRCm39) |
T194A |
probably benign |
Het |
| Crygf |
C |
A |
1: 65,967,156 (GRCm39) |
Y93* |
probably null |
Het |
| Ctsh |
A |
G |
9: 89,943,635 (GRCm39) |
R87G |
possibly damaging |
Het |
| Cyp2t4 |
A |
G |
7: 26,857,671 (GRCm39) |
D428G |
possibly damaging |
Het |
| Dnah17 |
C |
G |
11: 117,958,508 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,567,128 (GRCm39) |
V2366A |
probably benign |
Het |
| Dscaml1 |
A |
T |
9: 45,643,432 (GRCm39) |
I1284F |
probably benign |
Het |
| Dsg1c |
T |
C |
18: 20,405,403 (GRCm39) |
|
probably benign |
Het |
| Dst |
G |
T |
1: 34,310,494 (GRCm39) |
R4098L |
probably damaging |
Het |
| Efhb |
A |
G |
17: 53,720,487 (GRCm39) |
|
probably benign |
Het |
| Epha7 |
A |
T |
4: 28,821,104 (GRCm39) |
I90F |
probably damaging |
Het |
| Fam171a2 |
T |
A |
11: 102,328,707 (GRCm39) |
D684V |
probably damaging |
Het |
| Fan1 |
A |
G |
7: 64,012,947 (GRCm39) |
V665A |
possibly damaging |
Het |
| Fbn2 |
A |
G |
18: 58,170,819 (GRCm39) |
C2191R |
probably damaging |
Het |
| Fkbp3 |
G |
A |
12: 65,120,692 (GRCm39) |
A2V |
probably benign |
Het |
| G6pd2 |
A |
G |
5: 61,967,514 (GRCm39) |
N430D |
probably benign |
Het |
| Gm13547 |
T |
A |
2: 29,651,596 (GRCm39) |
D7E |
possibly damaging |
Het |
| H4c9 |
G |
T |
13: 22,225,197 (GRCm39) |
Y99* |
probably null |
Het |
| Hdac5 |
A |
T |
11: 102,096,638 (GRCm39) |
D260E |
probably damaging |
Het |
| Hsf2bp |
T |
C |
17: 32,232,320 (GRCm39) |
E142G |
probably damaging |
Het |
| Igf1r |
C |
T |
7: 67,814,903 (GRCm39) |
T268I |
probably damaging |
Het |
| Inava |
T |
C |
1: 136,155,356 (GRCm39) |
D83G |
probably benign |
Het |
| Kcne3 |
C |
T |
7: 99,833,646 (GRCm39) |
R88C |
probably damaging |
Het |
| Klk1b9 |
G |
T |
7: 43,628,796 (GRCm39) |
G100V |
possibly damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,059,363 (GRCm39) |
|
probably benign |
Het |
| Lcp2 |
C |
T |
11: 34,032,426 (GRCm39) |
P335S |
possibly damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,680,231 (GRCm39) |
N2047K |
probably damaging |
Het |
| Mcub |
T |
C |
3: 129,712,375 (GRCm39) |
M167V |
probably benign |
Het |
| Mmp13 |
G |
A |
9: 7,274,032 (GRCm39) |
G169R |
probably damaging |
Het |
| Mmp13 |
A |
T |
9: 7,282,077 (GRCm39) |
I460F |
possibly damaging |
Het |
| Msh4 |
A |
G |
3: 153,602,532 (GRCm39) |
I232T |
probably damaging |
Het |
| Msra |
T |
A |
14: 64,447,981 (GRCm39) |
M145L |
probably benign |
Het |
| Myo7a |
A |
T |
7: 97,761,357 (GRCm39) |
|
probably benign |
Het |
| Nme8 |
A |
T |
13: 19,842,206 (GRCm39) |
N422K |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,121,115 (GRCm39) |
F353I |
probably damaging |
Het |
| Nphp3 |
A |
G |
9: 103,895,473 (GRCm39) |
K384E |
probably damaging |
Het |
| Or51h5 |
C |
T |
7: 102,577,811 (GRCm39) |
|
probably null |
Het |
| Or52e15 |
A |
G |
7: 104,645,910 (GRCm39) |
I67T |
probably benign |
Het |
| Or52h7 |
A |
G |
7: 104,213,544 (GRCm39) |
I39V |
probably benign |
Het |
| Phox2b |
T |
G |
5: 67,253,557 (GRCm39) |
|
probably benign |
Het |
| Plec |
A |
T |
15: 76,057,611 (GRCm39) |
S4131T |
probably damaging |
Het |
| Pptc7 |
G |
A |
5: 122,451,654 (GRCm39) |
|
probably benign |
Het |
| Pramel31 |
G |
A |
4: 144,090,352 (GRCm39) |
C464Y |
probably damaging |
Het |
| Prpf40b |
A |
G |
15: 99,214,170 (GRCm39) |
E810G |
probably benign |
Het |
| Ptprc |
C |
T |
1: 138,001,348 (GRCm39) |
V965I |
probably benign |
Het |
| Pum1 |
T |
A |
4: 130,455,415 (GRCm39) |
M180K |
probably benign |
Het |
| Ranbp3 |
T |
C |
17: 57,009,896 (GRCm39) |
|
probably benign |
Het |
| Rasgrf2 |
A |
G |
13: 92,120,393 (GRCm39) |
S787P |
probably benign |
Het |
| Rnf19b |
T |
A |
4: 128,967,344 (GRCm39) |
N294K |
probably damaging |
Het |
| Samd3 |
A |
T |
10: 26,120,393 (GRCm39) |
H156L |
possibly damaging |
Het |
| Serpinb6c |
C |
T |
13: 34,064,014 (GRCm39) |
R347Q |
possibly damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,015,906 (GRCm39) |
I416T |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,277,500 (GRCm39) |
F279Y |
probably damaging |
Het |
| Slc6a2 |
T |
A |
8: 93,719,429 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Tab2 |
A |
G |
10: 7,795,565 (GRCm39) |
S232P |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,227,325 (GRCm39) |
K1356* |
probably null |
Het |
| Tmem87a |
A |
G |
2: 120,190,023 (GRCm39) |
S544P |
probably damaging |
Het |
| Trim52 |
T |
A |
14: 106,344,401 (GRCm39) |
C20S |
probably damaging |
Het |
| Usp38 |
A |
T |
8: 81,740,779 (GRCm39) |
V96E |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,708,308 (GRCm39) |
Y33C |
probably damaging |
Het |
| Vsig10l |
T |
G |
7: 43,113,561 (GRCm39) |
V171G |
probably damaging |
Het |
| Zfp957 |
T |
A |
14: 79,450,360 (GRCm39) |
I480F |
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 |
|
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'- GCCGCCTGTACCTGTCTTTGTAATAG -3'
(R):5'- TACATCTGCCTGATGAAGGGGAGG -3'
Sequencing Primer
(F):5'- GGCAGCATTGCCTGAAGATA -3'
(R):5'- TCCTAGCATGCAGTGGTTAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation