Incidental Mutation 'R1776:Mia2'
| ID |
197048 |
| 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 |
039807-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R1776 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
59142368-59237006 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 59196361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069430]
[ENSMUST00000170992]
[ENSMUST00000175877]
[ENSMUST00000175912]
[ENSMUST00000176322]
[ENSMUST00000176336]
[ENSMUST00000177162]
[ENSMUST00000176727]
[ENSMUST00000176752]
[ENSMUST00000176464]
[ENSMUST00000177225]
[ENSMUST00000176892]
[ENSMUST00000219140]
[ENSMUST00000177370]
[ENSMUST00000177460]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069430
|
| SMART Domains |
Protein: ENSMUSP00000070572
Gene: ENSMUSG00000021000
| 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 benign
Transcript: ENSMUST00000175912
|
| SMART Domains |
Protein: ENSMUSP00000135251
Gene: ENSMUSG00000021000
| 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
|
| SMART Domains |
Protein: ENSMUSP00000135100
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_
|
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: 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: 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: ENSMUST00000176464
|
| SMART Domains |
Protein: ENSMUSP00000135390
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 |
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: 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 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219140
|
| 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: ENSMUST00000177460
|
| SMART Domains |
Protein: ENSMUSP00000134887
Gene: ENSMUSG00000021000
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
coiled coil region
|
84 |
116 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.3%
|
| Validation Efficiency |
98% (86/88) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
T |
C |
10: 70,711,058 (GRCm39) |
|
noncoding transcript |
Het |
| 9430097D07Rik |
T |
C |
2: 32,464,767 (GRCm39) |
|
probably benign |
Het |
| A2m |
C |
G |
6: 121,618,383 (GRCm39) |
F225L |
probably damaging |
Het |
| Adamts19 |
T |
A |
18: 59,087,692 (GRCm39) |
I574N |
probably damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,417,300 (GRCm39) |
D104G |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,780,361 (GRCm39) |
N1804K |
probably benign |
Het |
| Ankle1 |
G |
T |
8: 71,861,918 (GRCm39) |
V474F |
probably damaging |
Het |
| Arfgap3 |
A |
G |
15: 83,227,340 (GRCm39) |
V24A |
probably benign |
Het |
| Asph |
A |
T |
4: 9,598,773 (GRCm39) |
S149R |
probably damaging |
Het |
| Cass4 |
A |
T |
2: 172,269,615 (GRCm39) |
I568L |
probably benign |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Cdx1 |
G |
A |
18: 61,169,086 (GRCm39) |
A36V |
probably benign |
Het |
| Cep57 |
A |
T |
9: 13,730,170 (GRCm39) |
S123T |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,519,681 (GRCm39) |
Q231L |
probably damaging |
Het |
| Clcnkb |
T |
C |
4: 141,142,500 (GRCm39) |
|
probably benign |
Het |
| Crabp2 |
C |
A |
3: 87,860,301 (GRCm39) |
T125K |
probably benign |
Het |
| Dennd3 |
A |
G |
15: 73,426,950 (GRCm39) |
T776A |
possibly damaging |
Het |
| Dnajb6 |
T |
C |
5: 29,990,091 (GRCm39) |
|
probably benign |
Het |
| Dsp |
T |
A |
13: 38,380,593 (GRCm39) |
I1847N |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,599,362 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,879,100 (GRCm39) |
I63T |
probably damaging |
Het |
| Fbn1 |
A |
C |
2: 125,163,654 (GRCm39) |
F2067L |
possibly damaging |
Het |
| Fbxo16 |
T |
A |
14: 65,532,835 (GRCm39) |
|
probably null |
Het |
| Gm3604 |
C |
A |
13: 62,517,888 (GRCm39) |
G157* |
probably null |
Het |
| Gm5250 |
A |
G |
1: 13,132,564 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
A |
G |
19: 55,067,007 (GRCm39) |
S503P |
possibly damaging |
Het |
| Herc4 |
T |
A |
10: 63,099,950 (GRCm39) |
C124* |
probably null |
Het |
| Ift27 |
T |
C |
15: 78,050,181 (GRCm39) |
D76G |
probably null |
Het |
| Igdcc3 |
C |
T |
9: 65,090,034 (GRCm39) |
Q550* |
probably null |
Het |
| Igsf6 |
T |
A |
7: 120,667,522 (GRCm39) |
I165F |
probably damaging |
Het |
| Il31ra |
T |
C |
13: 112,677,773 (GRCm39) |
I173M |
probably damaging |
Het |
| Kbtbd6 |
G |
A |
14: 79,690,045 (GRCm39) |
D247N |
probably benign |
Het |
| Kcnq2 |
T |
A |
2: 180,742,350 (GRCm39) |
T394S |
probably benign |
Het |
| Mvp |
T |
C |
7: 126,591,933 (GRCm39) |
Q419R |
probably benign |
Het |
| Mylk |
A |
G |
16: 34,773,152 (GRCm39) |
D1250G |
probably benign |
Het |
| Necab1 |
A |
G |
4: 15,111,267 (GRCm39) |
Y54H |
probably damaging |
Het |
| Nlk |
T |
A |
11: 78,477,853 (GRCm39) |
M297L |
probably benign |
Het |
| Nsl1 |
G |
T |
1: 190,795,385 (GRCm39) |
M50I |
probably benign |
Het |
| Numa1 |
A |
G |
7: 101,660,257 (GRCm39) |
T441A |
probably damaging |
Het |
| Ofd1 |
A |
G |
X: 165,189,002 (GRCm39) |
Y755H |
probably benign |
Het |
| Or10d1c |
G |
A |
9: 38,894,190 (GRCm39) |
S50F |
probably damaging |
Het |
| Or6c69b |
C |
T |
10: 129,627,000 (GRCm39) |
V153I |
probably benign |
Het |
| Or8b12i |
G |
A |
9: 20,082,105 (GRCm39) |
T254I |
probably benign |
Het |
| Ovgp1 |
A |
T |
3: 105,885,114 (GRCm39) |
H151L |
possibly damaging |
Het |
| Pigz |
G |
A |
16: 31,763,397 (GRCm39) |
E152K |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,312,446 (GRCm39) |
D779E |
probably benign |
Het |
| Ppil4 |
A |
T |
10: 7,686,201 (GRCm39) |
E353V |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,520,950 (GRCm39) |
G741S |
probably damaging |
Het |
| Rplp0 |
T |
C |
5: 115,700,524 (GRCm39) |
Y231H |
probably benign |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Rundc3b |
T |
C |
5: 8,629,050 (GRCm39) |
E117G |
probably damaging |
Het |
| Ryr2 |
A |
C |
13: 11,760,062 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,787,598 (GRCm39) |
M198K |
probably damaging |
Het |
| Sdhd |
T |
C |
9: 50,508,500 (GRCm39) |
K122R |
probably benign |
Het |
| Senp2 |
T |
C |
16: 21,861,810 (GRCm39) |
|
probably benign |
Het |
| Setd3 |
C |
A |
12: 108,131,420 (GRCm39) |
G2V |
probably damaging |
Het |
| Sfxn5 |
A |
G |
6: 85,244,927 (GRCm39) |
|
probably benign |
Het |
| She |
T |
A |
3: 89,739,345 (GRCm39) |
S179T |
possibly damaging |
Het |
| Slc24a2 |
G |
A |
4: 87,094,526 (GRCm39) |
T331I |
probably benign |
Het |
| Slc45a3 |
T |
C |
1: 131,904,694 (GRCm39) |
W6R |
possibly damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,668,447 (GRCm39) |
S697P |
probably benign |
Het |
| Soat1 |
C |
T |
1: 156,269,991 (GRCm39) |
V143I |
probably benign |
Het |
| Sp8 |
T |
A |
12: 118,813,302 (GRCm39) |
F386I |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,864,381 (GRCm39) |
T510A |
probably benign |
Het |
| Srgap2 |
T |
A |
1: 131,339,588 (GRCm39) |
I125F |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,793,680 (GRCm39) |
I472F |
possibly damaging |
Het |
| Taar7f |
C |
T |
10: 23,925,546 (GRCm39) |
R47C |
probably benign |
Het |
| Tbc1d19 |
T |
A |
5: 54,046,653 (GRCm39) |
|
probably null |
Het |
| Tbc1d21 |
T |
A |
9: 58,274,011 (GRCm39) |
|
probably benign |
Het |
| Tcaf1 |
A |
G |
6: 42,655,389 (GRCm39) |
I529T |
possibly damaging |
Het |
| Tgfbr2 |
A |
T |
9: 116,004,035 (GRCm39) |
I24N |
possibly damaging |
Het |
| Tgm1 |
T |
C |
14: 55,946,854 (GRCm39) |
T385A |
probably damaging |
Het |
| Tgm2 |
T |
C |
2: 157,973,379 (GRCm39) |
N244S |
probably benign |
Het |
| Thoc5 |
T |
C |
11: 4,864,517 (GRCm39) |
|
probably benign |
Het |
| Tmc2 |
A |
T |
2: 130,076,789 (GRCm39) |
I372F |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,770,520 (GRCm39) |
D222G |
probably damaging |
Het |
| Trhde |
T |
G |
10: 114,636,508 (GRCm39) |
N233T |
probably benign |
Het |
| Tstd3 |
T |
C |
4: 21,759,475 (GRCm39) |
Y99C |
probably damaging |
Het |
| Ttc22 |
A |
T |
4: 106,496,237 (GRCm39) |
D429V |
possibly damaging |
Het |
| Ugcg |
A |
G |
4: 59,207,775 (GRCm39) |
N38S |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,460,400 (GRCm39) |
I2554V |
possibly damaging |
Het |
| Usp16 |
A |
G |
16: 87,276,204 (GRCm39) |
D513G |
probably damaging |
Het |
| Vip |
T |
C |
10: 5,594,992 (GRCm39) |
|
probably null |
Het |
| Vmn1r4 |
A |
G |
6: 56,934,023 (GRCm39) |
I176V |
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,819,806 (GRCm39) |
T1050A |
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 |
|
R1706:Mia2
|
UTSW |
12 |
59,191,552 (GRCm39) |
nonsense |
probably null |
|
|
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'- GCCAGCCTTGTTTGCTTCATCATGT -3'
(R):5'- CAGAATGCTCACTGCCTTGGCTTA -3'
Sequencing Primer
(F):5'- GTTTGCTTCATCATGTGCCTC -3'
(R):5'- TTCATGGGGGAAGACAAAGAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation