Incidental Mutation 'R5763:Mical2'
ID |
462730 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mical2
|
Ensembl Gene |
ENSMUSG00000038244 |
Gene Name |
microtubule associated monooxygenase, calponin and LIM domain containing 2 |
Synonyms |
4921517J23Rik, Ebitein1, 5330438E18Rik, Micalcl |
MMRRC Submission |
043364-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.242)
|
Stock # |
R5763 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
111825063-112012313 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 111973861 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033033
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033033]
[ENSMUST00000051308]
[ENSMUST00000106645]
|
AlphaFold |
Q8BML1 Q9D5U9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000033033
|
SMART Domains |
Protein: ENSMUSP00000033033 Gene: ENSMUSG00000030771
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
low complexity region
|
72 |
100 |
N/A |
INTRINSIC |
low complexity region
|
393 |
404 |
N/A |
INTRINSIC |
low complexity region
|
415 |
432 |
N/A |
INTRINSIC |
low complexity region
|
545 |
562 |
N/A |
INTRINSIC |
coiled coil region
|
569 |
597 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000051308
|
SMART Domains |
Protein: ENSMUSP00000062443 Gene: ENSMUSG00000030771
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
34 |
N/A |
INTRINSIC |
low complexity region
|
327 |
338 |
N/A |
INTRINSIC |
low complexity region
|
349 |
366 |
N/A |
INTRINSIC |
low complexity region
|
479 |
496 |
N/A |
INTRINSIC |
low complexity region
|
500 |
515 |
N/A |
INTRINSIC |
DUF3585
|
526 |
668 |
6.86e-56 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106645
|
SMART Domains |
Protein: ENSMUSP00000102256 Gene: ENSMUSG00000030771
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
34 |
N/A |
INTRINSIC |
low complexity region
|
327 |
338 |
N/A |
INTRINSIC |
low complexity region
|
349 |
366 |
N/A |
INTRINSIC |
low complexity region
|
479 |
496 |
N/A |
INTRINSIC |
low complexity region
|
500 |
515 |
N/A |
INTRINSIC |
DUF3585
|
526 |
668 |
6.86e-56 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215412
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216652
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
97% (70/72) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
A |
G |
1: 130,670,768 (GRCm39) |
H330R |
possibly damaging |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Actl6b |
T |
A |
5: 137,565,063 (GRCm39) |
L314Q |
possibly damaging |
Het |
Adam22 |
A |
T |
5: 8,184,544 (GRCm39) |
C483S |
probably damaging |
Het |
Adamts7 |
T |
A |
9: 90,070,462 (GRCm39) |
L601H |
probably damaging |
Het |
Agl |
A |
T |
3: 116,547,009 (GRCm39) |
D1280E |
probably damaging |
Het |
Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
Astn2 |
T |
A |
4: 65,647,568 (GRCm39) |
M757L |
probably benign |
Het |
Atr |
A |
G |
9: 95,827,176 (GRCm39) |
M2407V |
probably benign |
Het |
Brca2 |
T |
C |
5: 150,471,471 (GRCm39) |
F2283L |
possibly damaging |
Het |
Brwd1 |
A |
T |
16: 95,835,043 (GRCm39) |
Y940* |
probably null |
Het |
Camk2g |
A |
T |
14: 20,789,415 (GRCm39) |
N218K |
probably damaging |
Het |
Ces2a |
C |
T |
8: 105,462,756 (GRCm39) |
P115L |
probably benign |
Het |
Col11a1 |
T |
C |
3: 113,888,245 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
T |
A |
6: 4,515,682 (GRCm39) |
D150E |
unknown |
Het |
Crybg3 |
A |
G |
16: 59,374,973 (GRCm39) |
S2094P |
possibly damaging |
Het |
Cttnbp2 |
T |
C |
6: 18,414,298 (GRCm39) |
N916D |
probably benign |
Het |
Ddx24 |
A |
G |
12: 103,383,673 (GRCm39) |
F593L |
probably damaging |
Het |
Dhx16 |
G |
A |
17: 36,192,580 (GRCm39) |
E171K |
possibly damaging |
Het |
Dnah5 |
T |
C |
15: 28,311,298 (GRCm39) |
I1759T |
probably damaging |
Het |
Dnah9 |
C |
A |
11: 65,846,065 (GRCm39) |
S2991I |
probably damaging |
Het |
Entpd7 |
G |
T |
19: 43,692,705 (GRCm39) |
V87L |
probably damaging |
Het |
Fam221a |
T |
G |
6: 49,355,518 (GRCm39) |
L207V |
probably damaging |
Het |
Foxm1 |
T |
A |
6: 128,343,071 (GRCm39) |
I135N |
probably benign |
Het |
Gabpa |
C |
A |
16: 84,657,297 (GRCm39) |
Q391K |
possibly damaging |
Het |
Gipr |
T |
A |
7: 18,897,475 (GRCm39) |
H111L |
probably damaging |
Het |
Gmip |
A |
G |
8: 70,270,501 (GRCm39) |
D737G |
probably damaging |
Het |
Herc6 |
T |
A |
6: 57,639,872 (GRCm39) |
N995K |
probably damaging |
Het |
Ldha |
G |
A |
7: 46,497,213 (GRCm39) |
|
probably benign |
Het |
Lrrc37 |
G |
A |
11: 103,504,469 (GRCm39) |
P324S |
probably damaging |
Het |
Masp1 |
T |
C |
16: 23,314,997 (GRCm39) |
E88G |
probably damaging |
Het |
Mill1 |
T |
A |
7: 17,979,587 (GRCm39) |
V18E |
probably benign |
Het |
Mrgpra3 |
A |
T |
7: 47,239,355 (GRCm39) |
C190* |
probably null |
Het |
Nog |
C |
T |
11: 89,192,291 (GRCm39) |
V186M |
probably damaging |
Het |
Nrxn2 |
T |
C |
19: 6,581,369 (GRCm39) |
F392L |
probably benign |
Het |
Or11h7 |
T |
C |
14: 50,891,525 (GRCm39) |
I277T |
possibly damaging |
Het |
Or12j3 |
T |
A |
7: 139,953,568 (GRCm39) |
|
probably null |
Het |
Or1e33 |
T |
A |
11: 73,738,693 (GRCm39) |
Q86L |
probably benign |
Het |
Or4a79 |
T |
A |
2: 89,552,372 (GRCm39) |
M28L |
probably benign |
Het |
Or7c74 |
T |
C |
2: 37,161,025 (GRCm39) |
|
noncoding transcript |
Het |
Phyhd1 |
T |
A |
2: 30,169,983 (GRCm39) |
D158E |
probably damaging |
Het |
Pik3r4 |
G |
T |
9: 105,546,974 (GRCm39) |
K917N |
probably benign |
Het |
Pnma1 |
A |
G |
12: 84,194,124 (GRCm39) |
V193A |
possibly damaging |
Het |
Podxl2 |
T |
C |
6: 88,826,805 (GRCm39) |
E167G |
probably damaging |
Het |
Prss50 |
A |
T |
9: 110,691,517 (GRCm39) |
K82* |
probably null |
Het |
Qsox1 |
A |
G |
1: 155,655,625 (GRCm39) |
S513P |
probably benign |
Het |
Rheb |
A |
G |
5: 25,012,785 (GRCm39) |
V98A |
probably benign |
Het |
Rhoj |
A |
G |
12: 75,438,606 (GRCm39) |
I131V |
probably benign |
Het |
Rsph4a |
A |
T |
10: 33,781,684 (GRCm39) |
D178V |
probably damaging |
Het |
Setd2 |
T |
G |
9: 110,385,343 (GRCm39) |
|
probably null |
Het |
Siglecf |
A |
T |
7: 43,005,744 (GRCm39) |
K434* |
probably null |
Het |
Slc14a1 |
T |
C |
18: 78,159,629 (GRCm39) |
Y88C |
probably benign |
Het |
Snx15 |
T |
C |
19: 6,172,140 (GRCm39) |
E89G |
probably damaging |
Het |
Son |
C |
T |
16: 91,454,378 (GRCm39) |
R1042C |
probably damaging |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Suz12 |
C |
A |
11: 79,916,134 (GRCm39) |
Y457* |
probably null |
Het |
Tet1 |
T |
A |
10: 62,675,847 (GRCm39) |
N743I |
probably damaging |
Het |
Tmc6 |
A |
G |
11: 117,660,259 (GRCm39) |
F660L |
possibly damaging |
Het |
Tnpo1 |
A |
C |
13: 98,996,445 (GRCm39) |
I452S |
possibly damaging |
Het |
Trav4-3 |
G |
T |
14: 53,836,844 (GRCm39) |
G103V |
probably damaging |
Het |
Ubap2 |
T |
C |
4: 41,195,809 (GRCm39) |
K994E |
probably damaging |
Het |
Vmn2r14 |
T |
C |
5: 109,363,724 (GRCm39) |
T731A |
possibly damaging |
Het |
Vmn2r52 |
T |
A |
7: 9,905,231 (GRCm39) |
I203L |
probably benign |
Het |
Zfp663 |
G |
T |
2: 165,200,355 (GRCm39) |
S75* |
probably null |
Het |
Zik1 |
G |
T |
7: 10,226,293 (GRCm39) |
H25N |
probably benign |
Het |
|
Other mutations in Mical2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00504:Mical2
|
APN |
7 |
111,981,352 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL00886:Mical2
|
APN |
7 |
111,914,279 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00934:Mical2
|
APN |
7 |
111,948,610 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00941:Mical2
|
APN |
7 |
111,920,652 (GRCm39) |
splice site |
probably benign |
|
IGL01020:Mical2
|
APN |
7 |
111,914,283 (GRCm39) |
splice site |
probably benign |
|
IGL01395:Mical2
|
APN |
7 |
111,922,792 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01658:Mical2
|
APN |
7 |
111,914,205 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01775:Mical2
|
APN |
7 |
111,981,269 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02040:Mical2
|
APN |
7 |
111,910,613 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02051:Mical2
|
APN |
7 |
111,980,597 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02388:Mical2
|
APN |
7 |
111,934,620 (GRCm39) |
missense |
probably benign |
|
IGL02551:Mical2
|
APN |
7 |
111,923,197 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02578:Mical2
|
APN |
7 |
111,950,580 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02751:Mical2
|
APN |
7 |
111,931,243 (GRCm39) |
missense |
probably benign |
0.11 |
IGL03114:Mical2
|
APN |
7 |
111,996,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R0091:Mical2
|
UTSW |
7 |
111,980,503 (GRCm39) |
missense |
probably benign |
0.05 |
R0101:Mical2
|
UTSW |
7 |
111,936,074 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0415:Mical2
|
UTSW |
7 |
111,980,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R0504:Mical2
|
UTSW |
7 |
111,870,524 (GRCm39) |
missense |
probably benign |
0.00 |
R0594:Mical2
|
UTSW |
7 |
111,917,657 (GRCm39) |
missense |
probably damaging |
0.97 |
R0609:Mical2
|
UTSW |
7 |
111,920,647 (GRCm39) |
splice site |
probably null |
|
R0962:Mical2
|
UTSW |
7 |
111,979,624 (GRCm39) |
missense |
probably damaging |
0.99 |
R1521:Mical2
|
UTSW |
7 |
111,980,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R1542:Mical2
|
UTSW |
7 |
111,908,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R1611:Mical2
|
UTSW |
7 |
111,980,671 (GRCm39) |
missense |
probably damaging |
0.99 |
R1740:Mical2
|
UTSW |
7 |
111,933,043 (GRCm39) |
missense |
probably benign |
|
R1815:Mical2
|
UTSW |
7 |
112,012,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R1855:Mical2
|
UTSW |
7 |
111,944,489 (GRCm39) |
missense |
probably benign |
0.21 |
R1958:Mical2
|
UTSW |
7 |
111,980,311 (GRCm39) |
missense |
probably benign |
0.00 |
R1962:Mical2
|
UTSW |
7 |
112,012,051 (GRCm39) |
missense |
probably benign |
0.14 |
R2086:Mical2
|
UTSW |
7 |
111,917,810 (GRCm39) |
missense |
probably benign |
0.31 |
R2136:Mical2
|
UTSW |
7 |
111,870,722 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2418:Mical2
|
UTSW |
7 |
111,919,941 (GRCm39) |
critical splice donor site |
probably null |
|
R2439:Mical2
|
UTSW |
7 |
111,994,002 (GRCm39) |
missense |
probably damaging |
0.99 |
R3053:Mical2
|
UTSW |
7 |
111,910,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R3979:Mical2
|
UTSW |
7 |
112,006,885 (GRCm39) |
splice site |
probably null |
|
R4308:Mical2
|
UTSW |
7 |
111,931,199 (GRCm39) |
missense |
probably benign |
0.27 |
R4551:Mical2
|
UTSW |
7 |
111,981,123 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4583:Mical2
|
UTSW |
7 |
112,012,154 (GRCm39) |
missense |
probably benign |
0.02 |
R4663:Mical2
|
UTSW |
7 |
111,927,884 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4868:Mical2
|
UTSW |
7 |
111,917,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R4902:Mical2
|
UTSW |
7 |
111,936,107 (GRCm39) |
missense |
probably benign |
|
R5112:Mical2
|
UTSW |
7 |
111,919,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R5459:Mical2
|
UTSW |
7 |
111,981,444 (GRCm39) |
missense |
probably benign |
0.00 |
R5487:Mical2
|
UTSW |
7 |
111,919,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R5563:Mical2
|
UTSW |
7 |
111,914,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R5817:Mical2
|
UTSW |
7 |
111,922,866 (GRCm39) |
missense |
probably benign |
|
R5987:Mical2
|
UTSW |
7 |
111,934,155 (GRCm39) |
missense |
probably benign |
0.00 |
R6042:Mical2
|
UTSW |
7 |
111,979,619 (GRCm39) |
missense |
probably benign |
0.40 |
R6087:Mical2
|
UTSW |
7 |
111,917,692 (GRCm39) |
nonsense |
probably null |
|
R6189:Mical2
|
UTSW |
7 |
112,012,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R6209:Mical2
|
UTSW |
7 |
111,923,293 (GRCm39) |
splice site |
probably null |
|
R6311:Mical2
|
UTSW |
7 |
111,922,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R6319:Mical2
|
UTSW |
7 |
111,927,884 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6578:Mical2
|
UTSW |
7 |
111,910,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R6750:Mical2
|
UTSW |
7 |
111,981,046 (GRCm39) |
missense |
probably damaging |
0.98 |
R6782:Mical2
|
UTSW |
7 |
111,945,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R6798:Mical2
|
UTSW |
7 |
111,975,266 (GRCm39) |
utr 3 prime |
probably benign |
|
R7061:Mical2
|
UTSW |
7 |
111,946,008 (GRCm39) |
missense |
probably benign |
0.10 |
R7147:Mical2
|
UTSW |
7 |
111,922,810 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7260:Mical2
|
UTSW |
7 |
111,919,001 (GRCm39) |
missense |
probably benign |
0.10 |
R7266:Mical2
|
UTSW |
7 |
111,902,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R7347:Mical2
|
UTSW |
7 |
111,981,358 (GRCm39) |
missense |
probably benign |
0.01 |
R7391:Mical2
|
UTSW |
7 |
111,919,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R7724:Mical2
|
UTSW |
7 |
111,922,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R7747:Mical2
|
UTSW |
7 |
111,933,046 (GRCm39) |
missense |
probably benign |
0.02 |
R7783:Mical2
|
UTSW |
7 |
112,012,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R7818:Mical2
|
UTSW |
7 |
111,944,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R7824:Mical2
|
UTSW |
7 |
112,006,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R7995:Mical2
|
UTSW |
7 |
111,980,975 (GRCm39) |
missense |
probably benign |
0.31 |
R8022:Mical2
|
UTSW |
7 |
111,902,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R8429:Mical2
|
UTSW |
7 |
111,944,460 (GRCm39) |
missense |
probably benign |
0.01 |
R8505:Mical2
|
UTSW |
7 |
111,919,007 (GRCm39) |
missense |
probably benign |
0.02 |
R8532:Mical2
|
UTSW |
7 |
111,917,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R8830:Mical2
|
UTSW |
7 |
111,980,403 (GRCm39) |
missense |
probably benign |
0.01 |
R8862:Mical2
|
UTSW |
7 |
111,910,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R8906:Mical2
|
UTSW |
7 |
111,980,671 (GRCm39) |
missense |
probably damaging |
0.99 |
R8988:Mical2
|
UTSW |
7 |
111,910,661 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9006:Mical2
|
UTSW |
7 |
111,981,323 (GRCm39) |
missense |
probably benign |
0.13 |
R9123:Mical2
|
UTSW |
7 |
111,870,589 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9127:Mical2
|
UTSW |
7 |
111,870,589 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9128:Mical2
|
UTSW |
7 |
111,870,589 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9129:Mical2
|
UTSW |
7 |
111,870,589 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9140:Mical2
|
UTSW |
7 |
112,006,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R9187:Mical2
|
UTSW |
7 |
111,902,797 (GRCm39) |
nonsense |
probably null |
|
R9233:Mical2
|
UTSW |
7 |
111,981,399 (GRCm39) |
missense |
probably benign |
0.05 |
R9304:Mical2
|
UTSW |
7 |
111,980,974 (GRCm39) |
missense |
probably damaging |
0.97 |
R9310:Mical2
|
UTSW |
7 |
111,950,920 (GRCm39) |
missense |
probably benign |
0.45 |
R9377:Mical2
|
UTSW |
7 |
111,981,246 (GRCm39) |
missense |
probably benign |
0.10 |
R9399:Mical2
|
UTSW |
7 |
111,946,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R9457:Mical2
|
UTSW |
7 |
112,010,665 (GRCm39) |
missense |
probably damaging |
0.96 |
R9500:Mical2
|
UTSW |
7 |
111,936,054 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9620:Mical2
|
UTSW |
7 |
111,980,403 (GRCm39) |
missense |
probably benign |
0.01 |
R9652:Mical2
|
UTSW |
7 |
111,945,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R9657:Mical2
|
UTSW |
7 |
111,921,806 (GRCm39) |
missense |
probably benign |
0.37 |
R9756:Mical2
|
UTSW |
7 |
111,902,928 (GRCm39) |
missense |
probably damaging |
0.99 |
R9789:Mical2
|
UTSW |
7 |
111,945,996 (GRCm39) |
missense |
probably damaging |
1.00 |
RF008:Mical2
|
UTSW |
7 |
111,922,833 (GRCm39) |
missense |
probably damaging |
1.00 |
X0062:Mical2
|
UTSW |
7 |
111,946,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CACTTTCTCTGGGAAAAGCTTGAC -3'
(R):5'- GTGGTAATAGGCCACGTAGG -3'
Sequencing Primer
(F):5'- TCTCTGGGAAAAGCTTGACATATGG -3'
(R):5'- CACGTAGGCATAGTTTCACCATAGTG -3'
|
Posted On |
2017-03-01 |