Incidental Mutation 'R0586:Mical3'
ID |
55756 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mical3
|
Ensembl Gene |
ENSMUSG00000051586 |
Gene Name |
microtubule associated monooxygenase, calponin and LIM domain containing 3 |
Synonyms |
C130040D16Rik, MICAL-3 |
MMRRC Submission |
038776-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R0586 (G1)
|
Quality Score |
224 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
120908668-121107959 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 121006602 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077159]
[ENSMUST00000203254]
[ENSMUST00000204248]
[ENSMUST00000207889]
|
AlphaFold |
Q8CJ19 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077159
|
SMART Domains |
Protein: ENSMUSP00000076402 Gene: ENSMUSG00000051586
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
69 |
N/A |
INTRINSIC |
Pfam:FAD_binding_3
|
86 |
142 |
1.4e-7 |
PFAM |
low complexity region
|
162 |
175 |
N/A |
INTRINSIC |
CH
|
520 |
619 |
4.44e-17 |
SMART |
low complexity region
|
625 |
635 |
N/A |
INTRINSIC |
LIM
|
763 |
815 |
2.78e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203188
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203254
|
SMART Domains |
Protein: ENSMUSP00000145254 Gene: ENSMUSG00000051586
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
69 |
N/A |
INTRINSIC |
Pfam:FAD_binding_3
|
86 |
142 |
8.6e-6 |
PFAM |
low complexity region
|
162 |
175 |
N/A |
INTRINSIC |
CH
|
520 |
619 |
2.2e-19 |
SMART |
low complexity region
|
640 |
655 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204248
|
SMART Domains |
Protein: ENSMUSP00000145439 Gene: ENSMUSG00000051586
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
69 |
N/A |
INTRINSIC |
Pfam:FAD_binding_3
|
86 |
142 |
9.1e-6 |
PFAM |
low complexity region
|
162 |
175 |
N/A |
INTRINSIC |
CH
|
520 |
619 |
2.2e-19 |
SMART |
low complexity region
|
625 |
635 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204644
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204994
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205020
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207889
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212208
|
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.5%
- 20x: 94.4%
|
Validation Efficiency |
100% (74/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
T |
4: 53,092,860 (GRCm39) |
V308E |
probably benign |
Het |
Amy1 |
A |
G |
3: 113,356,418 (GRCm39) |
|
probably benign |
Het |
Astn2 |
C |
T |
4: 66,103,379 (GRCm39) |
V345M |
unknown |
Het |
Brwd1 |
T |
C |
16: 95,844,286 (GRCm39) |
E756G |
probably damaging |
Het |
Ccpg1 |
C |
T |
9: 72,909,103 (GRCm39) |
L135F |
probably benign |
Het |
Cecr2 |
C |
T |
6: 120,734,845 (GRCm39) |
H694Y |
probably damaging |
Het |
Cfh |
G |
A |
1: 140,110,920 (GRCm39) |
T14I |
probably damaging |
Het |
Cfhr2 |
G |
A |
1: 139,741,172 (GRCm39) |
R268* |
probably null |
Het |
Clca3a1 |
T |
A |
3: 144,738,350 (GRCm39) |
I53L |
probably benign |
Het |
Clcn6 |
A |
G |
4: 148,123,206 (GRCm39) |
|
probably benign |
Het |
Cnfn |
C |
T |
7: 25,067,256 (GRCm39) |
V98I |
probably benign |
Het |
Cntnap1 |
C |
T |
11: 101,077,840 (GRCm39) |
R1122W |
probably damaging |
Het |
Cpne9 |
A |
T |
6: 113,272,024 (GRCm39) |
E384V |
probably damaging |
Het |
Ctr9 |
T |
C |
7: 110,648,705 (GRCm39) |
|
probably benign |
Het |
Ctsj |
T |
A |
13: 61,151,515 (GRCm39) |
|
probably benign |
Het |
Cyp2c39 |
A |
C |
19: 39,501,934 (GRCm39) |
|
probably benign |
Het |
Dock5 |
A |
C |
14: 68,046,481 (GRCm39) |
I767S |
probably damaging |
Het |
Eftud2 |
T |
C |
11: 102,737,446 (GRCm39) |
T552A |
probably damaging |
Het |
Epdr1 |
A |
G |
13: 19,778,715 (GRCm39) |
I25T |
probably damaging |
Het |
Fcgbp |
A |
T |
7: 27,789,138 (GRCm39) |
D568V |
probably damaging |
Het |
Fcgbpl1 |
T |
A |
7: 27,836,516 (GRCm39) |
V145D |
probably damaging |
Het |
Fhip1b |
T |
C |
7: 105,038,654 (GRCm39) |
E195G |
probably damaging |
Het |
Frem2 |
T |
A |
3: 53,555,342 (GRCm39) |
T1732S |
probably damaging |
Het |
Fuz |
T |
C |
7: 44,547,982 (GRCm39) |
V183A |
possibly damaging |
Het |
Grb7 |
T |
C |
11: 98,344,046 (GRCm39) |
S284P |
probably damaging |
Het |
Hoxb4 |
G |
T |
11: 96,209,713 (GRCm39) |
G40C |
probably damaging |
Het |
Kcnn1 |
T |
C |
8: 71,316,513 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
C |
A |
15: 98,733,088 (GRCm39) |
|
probably benign |
Het |
L3mbtl3 |
A |
G |
10: 26,203,732 (GRCm39) |
V366A |
unknown |
Het |
Ldlr |
G |
A |
9: 21,651,040 (GRCm39) |
R486H |
probably benign |
Het |
Lnpep |
A |
T |
17: 17,795,658 (GRCm39) |
|
probably benign |
Het |
Myh15 |
T |
C |
16: 48,992,250 (GRCm39) |
|
probably benign |
Het |
Nup155 |
T |
A |
15: 8,159,716 (GRCm39) |
H542Q |
probably benign |
Het |
Opn4 |
A |
G |
14: 34,320,930 (GRCm39) |
|
probably benign |
Het |
Or13a20 |
T |
C |
7: 140,231,976 (GRCm39) |
F28S |
probably benign |
Het |
Or4a68 |
T |
A |
2: 89,269,698 (GRCm39) |
R308S |
possibly damaging |
Het |
Or6c68 |
A |
G |
10: 129,157,916 (GRCm39) |
I141M |
probably benign |
Het |
Or8g4 |
A |
T |
9: 39,662,414 (GRCm39) |
H244L |
probably damaging |
Het |
Or8h10 |
T |
C |
2: 86,809,126 (GRCm39) |
N5D |
probably damaging |
Het |
Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
Parp14 |
T |
C |
16: 35,661,382 (GRCm39) |
K1522R |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,594,335 (GRCm39) |
D1259E |
probably benign |
Het |
Pogz |
C |
T |
3: 94,786,664 (GRCm39) |
A1084V |
probably damaging |
Het |
Popdc3 |
G |
A |
10: 45,191,359 (GRCm39) |
V157M |
probably benign |
Het |
Prrt4 |
T |
C |
6: 29,171,183 (GRCm39) |
Y423C |
probably damaging |
Het |
Qrich1 |
C |
T |
9: 108,411,719 (GRCm39) |
H415Y |
probably damaging |
Het |
Rabgap1 |
A |
G |
2: 37,433,235 (GRCm39) |
N801D |
probably benign |
Het |
Rb1 |
A |
G |
14: 73,525,124 (GRCm39) |
|
probably benign |
Het |
Rp1 |
A |
T |
1: 4,418,060 (GRCm39) |
N1017K |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,650,445 (GRCm39) |
D356G |
probably null |
Het |
Skint8 |
C |
G |
4: 111,794,126 (GRCm39) |
P172R |
probably damaging |
Het |
Slc12a8 |
T |
G |
16: 33,478,600 (GRCm39) |
M643R |
possibly damaging |
Het |
Sult1c2 |
A |
T |
17: 54,271,113 (GRCm39) |
|
probably benign |
Het |
Tasor2 |
A |
G |
13: 3,640,321 (GRCm39) |
L272P |
probably damaging |
Het |
Tcaf1 |
T |
A |
6: 42,650,473 (GRCm39) |
M869L |
probably damaging |
Het |
Tecpr1 |
T |
C |
5: 144,154,219 (GRCm39) |
N78S |
probably damaging |
Het |
Tectb |
A |
T |
19: 55,170,356 (GRCm39) |
Y69F |
probably damaging |
Het |
Them4 |
A |
T |
3: 94,237,101 (GRCm39) |
N187I |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,244,582 (GRCm39) |
|
probably null |
Het |
Tnik |
G |
T |
3: 28,631,510 (GRCm39) |
|
probably benign |
Het |
Tns2 |
G |
T |
15: 102,018,020 (GRCm39) |
|
probably benign |
Het |
Tnxb |
A |
G |
17: 34,891,118 (GRCm39) |
D487G |
probably damaging |
Het |
Trim33 |
T |
A |
3: 103,217,660 (GRCm39) |
C202S |
probably damaging |
Het |
Trpm2 |
T |
A |
10: 77,759,350 (GRCm39) |
I1145F |
probably damaging |
Het |
Trpv2 |
A |
G |
11: 62,483,596 (GRCm39) |
T478A |
probably benign |
Het |
Ube2e3 |
T |
C |
2: 78,750,334 (GRCm39) |
Y187H |
probably benign |
Het |
Ubxn11 |
A |
G |
4: 133,836,963 (GRCm39) |
R64G |
possibly damaging |
Het |
Wwtr1 |
T |
C |
3: 57,366,487 (GRCm39) |
T407A |
probably damaging |
Het |
Zfyve26 |
A |
T |
12: 79,315,502 (GRCm39) |
S1325T |
possibly damaging |
Het |
|
Other mutations in Mical3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00569:Mical3
|
APN |
6 |
120,938,585 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL00718:Mical3
|
APN |
6 |
121,017,410 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00940:Mical3
|
APN |
6 |
120,999,371 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL00973:Mical3
|
APN |
6 |
120,911,885 (GRCm39) |
splice site |
probably benign |
|
IGL01503:Mical3
|
APN |
6 |
120,935,537 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01991:Mical3
|
APN |
6 |
120,912,172 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02794:Mical3
|
APN |
6 |
120,984,270 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02996:Mical3
|
APN |
6 |
120,935,519 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03105:Mical3
|
APN |
6 |
121,019,199 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03109:Mical3
|
APN |
6 |
120,986,085 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03236:Mical3
|
APN |
6 |
120,946,345 (GRCm39) |
missense |
probably benign |
0.00 |
P0028:Mical3
|
UTSW |
6 |
121,001,650 (GRCm39) |
missense |
probably benign |
0.33 |
R0244:Mical3
|
UTSW |
6 |
120,934,683 (GRCm39) |
missense |
probably benign |
0.00 |
R0494:Mical3
|
UTSW |
6 |
120,936,162 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1029:Mical3
|
UTSW |
6 |
120,911,639 (GRCm39) |
missense |
probably benign |
0.02 |
R1263:Mical3
|
UTSW |
6 |
120,929,430 (GRCm39) |
missense |
probably damaging |
0.99 |
R1507:Mical3
|
UTSW |
6 |
121,019,199 (GRCm39) |
missense |
probably benign |
0.36 |
R1527:Mical3
|
UTSW |
6 |
121,001,740 (GRCm39) |
missense |
probably damaging |
0.99 |
R1623:Mical3
|
UTSW |
6 |
121,001,768 (GRCm39) |
missense |
probably damaging |
0.99 |
R1680:Mical3
|
UTSW |
6 |
120,936,604 (GRCm39) |
missense |
probably benign |
0.09 |
R1697:Mical3
|
UTSW |
6 |
120,984,369 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1817:Mical3
|
UTSW |
6 |
121,019,196 (GRCm39) |
missense |
probably benign |
0.06 |
R1875:Mical3
|
UTSW |
6 |
121,019,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R1961:Mical3
|
UTSW |
6 |
120,959,568 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2004:Mical3
|
UTSW |
6 |
120,928,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R2093:Mical3
|
UTSW |
6 |
121,017,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R2141:Mical3
|
UTSW |
6 |
121,008,095 (GRCm39) |
splice site |
probably null |
|
R2142:Mical3
|
UTSW |
6 |
121,008,095 (GRCm39) |
splice site |
probably null |
|
R2257:Mical3
|
UTSW |
6 |
121,010,696 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2404:Mical3
|
UTSW |
6 |
120,936,789 (GRCm39) |
missense |
probably benign |
0.01 |
R2419:Mical3
|
UTSW |
6 |
120,936,884 (GRCm39) |
missense |
probably benign |
|
R2509:Mical3
|
UTSW |
6 |
121,011,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R3784:Mical3
|
UTSW |
6 |
120,998,298 (GRCm39) |
missense |
probably benign |
0.00 |
R4342:Mical3
|
UTSW |
6 |
120,911,799 (GRCm39) |
nonsense |
probably null |
|
R4343:Mical3
|
UTSW |
6 |
120,911,799 (GRCm39) |
nonsense |
probably null |
|
R4579:Mical3
|
UTSW |
6 |
120,935,660 (GRCm39) |
missense |
probably benign |
|
R4603:Mical3
|
UTSW |
6 |
120,911,799 (GRCm39) |
nonsense |
probably null |
|
R4605:Mical3
|
UTSW |
6 |
121,011,041 (GRCm39) |
nonsense |
probably null |
|
R4610:Mical3
|
UTSW |
6 |
120,911,799 (GRCm39) |
nonsense |
probably null |
|
R4611:Mical3
|
UTSW |
6 |
120,911,799 (GRCm39) |
nonsense |
probably null |
|
R4623:Mical3
|
UTSW |
6 |
120,938,586 (GRCm39) |
nonsense |
probably null |
|
R4669:Mical3
|
UTSW |
6 |
120,934,664 (GRCm39) |
missense |
probably damaging |
0.98 |
R4704:Mical3
|
UTSW |
6 |
120,935,649 (GRCm39) |
missense |
probably benign |
0.00 |
R4722:Mical3
|
UTSW |
6 |
121,015,486 (GRCm39) |
missense |
probably benign |
0.00 |
R4863:Mical3
|
UTSW |
6 |
121,010,748 (GRCm39) |
missense |
probably damaging |
0.99 |
R4878:Mical3
|
UTSW |
6 |
120,946,348 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4885:Mical3
|
UTSW |
6 |
120,912,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R4907:Mical3
|
UTSW |
6 |
120,984,259 (GRCm39) |
missense |
probably benign |
0.00 |
R5007:Mical3
|
UTSW |
6 |
121,015,030 (GRCm39) |
missense |
probably damaging |
0.98 |
R5299:Mical3
|
UTSW |
6 |
120,936,473 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5303:Mical3
|
UTSW |
6 |
120,936,941 (GRCm39) |
missense |
probably benign |
|
R5368:Mical3
|
UTSW |
6 |
120,936,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R5955:Mical3
|
UTSW |
6 |
121,010,711 (GRCm39) |
missense |
probably damaging |
0.99 |
R5970:Mical3
|
UTSW |
6 |
120,935,232 (GRCm39) |
nonsense |
probably null |
|
R6000:Mical3
|
UTSW |
6 |
120,998,281 (GRCm39) |
missense |
probably benign |
0.06 |
R6101:Mical3
|
UTSW |
6 |
121,010,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R6195:Mical3
|
UTSW |
6 |
120,993,796 (GRCm39) |
intron |
probably benign |
|
R6210:Mical3
|
UTSW |
6 |
121,017,478 (GRCm39) |
splice site |
probably null |
|
R6225:Mical3
|
UTSW |
6 |
120,935,684 (GRCm39) |
missense |
probably damaging |
0.98 |
R6258:Mical3
|
UTSW |
6 |
120,985,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R6260:Mical3
|
UTSW |
6 |
120,985,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R6349:Mical3
|
UTSW |
6 |
120,936,486 (GRCm39) |
missense |
probably benign |
|
R6352:Mical3
|
UTSW |
6 |
120,929,434 (GRCm39) |
missense |
probably damaging |
0.97 |
R6480:Mical3
|
UTSW |
6 |
121,011,236 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6704:Mical3
|
UTSW |
6 |
120,986,761 (GRCm39) |
intron |
probably benign |
|
R6783:Mical3
|
UTSW |
6 |
120,935,786 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6925:Mical3
|
UTSW |
6 |
120,936,351 (GRCm39) |
missense |
probably benign |
0.05 |
R6960:Mical3
|
UTSW |
6 |
120,935,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R7170:Mical3
|
UTSW |
6 |
120,950,694 (GRCm39) |
splice site |
probably null |
|
R7344:Mical3
|
UTSW |
6 |
121,013,505 (GRCm39) |
nonsense |
probably null |
|
R7414:Mical3
|
UTSW |
6 |
121,011,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R7455:Mical3
|
UTSW |
6 |
120,935,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R7649:Mical3
|
UTSW |
6 |
120,911,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R8236:Mical3
|
UTSW |
6 |
120,989,504 (GRCm39) |
missense |
|
|
R8286:Mical3
|
UTSW |
6 |
120,998,149 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8316:Mical3
|
UTSW |
6 |
120,911,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R8328:Mical3
|
UTSW |
6 |
120,912,138 (GRCm39) |
missense |
probably damaging |
0.98 |
R8354:Mical3
|
UTSW |
6 |
120,950,381 (GRCm39) |
missense |
probably damaging |
0.99 |
R8511:Mical3
|
UTSW |
6 |
121,015,513 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8687:Mical3
|
UTSW |
6 |
120,936,438 (GRCm39) |
missense |
probably benign |
0.19 |
R8728:Mical3
|
UTSW |
6 |
120,950,514 (GRCm39) |
missense |
probably damaging |
0.99 |
R8925:Mical3
|
UTSW |
6 |
120,984,325 (GRCm39) |
missense |
probably benign |
0.00 |
R8927:Mical3
|
UTSW |
6 |
120,984,325 (GRCm39) |
missense |
probably benign |
0.00 |
R8986:Mical3
|
UTSW |
6 |
120,991,822 (GRCm39) |
missense |
|
|
R9026:Mical3
|
UTSW |
6 |
120,986,848 (GRCm39) |
splice site |
probably benign |
|
R9415:Mical3
|
UTSW |
6 |
120,934,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R9515:Mical3
|
UTSW |
6 |
121,001,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R9720:Mical3
|
UTSW |
6 |
120,935,238 (GRCm39) |
missense |
probably damaging |
0.99 |
R9777:Mical3
|
UTSW |
6 |
120,959,529 (GRCm39) |
missense |
possibly damaging |
0.91 |
U24488:Mical3
|
UTSW |
6 |
120,978,457 (GRCm39) |
missense |
possibly damaging |
0.90 |
Z1177:Mical3
|
UTSW |
6 |
120,936,689 (GRCm39) |
missense |
possibly damaging |
0.71 |
Z1190:Mical3
|
UTSW |
6 |
120,998,319 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGACTCCACCTCTCCGCTATG -3'
(R):5'- TGCTTAGCCATGCAAGACCCTAAC -3'
Sequencing Primer
(F):5'- agacattcatttgttattatctcccc -3'
(R):5'- AGCTGGCCTCTGGTCATTC -3'
|
Posted On |
2013-07-11 |