Incidental Mutation 'R4885:Mical3'
| ID |
375635 |
| 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 |
042851-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R4885 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
120908668-121107959 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 120912214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 1882
(P1882S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207889]
|
| AlphaFold |
Q8CJ19 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000098457
|
| SMART Domains |
Protein: ENSMUSP00000096056
Gene: ENSMUSG00000051586
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
80 |
N/A |
INTRINSIC |
|
coiled coil region
|
114 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
225 |
N/A |
INTRINSIC |
|
coiled coil region
|
238 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
592 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
794 |
824 |
N/A |
INTRINSIC |
|
low complexity region
|
861 |
882 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
929 |
N/A |
INTRINSIC |
|
low complexity region
|
950 |
962 |
N/A |
INTRINSIC |
|
DUF3585
|
968 |
1110 |
1.39e-65 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140854
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151602
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207889
AA Change: P1882S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000212333
AA Change: P1027S
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
99% (77/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,370,425 (GRCm39) |
T317A |
probably benign |
Het |
| Adck1 |
G |
A |
12: 88,407,865 (GRCm39) |
A199T |
probably benign |
Het |
| Adgrb1 |
A |
T |
15: 74,444,011 (GRCm39) |
M1038L |
probably benign |
Het |
| Anapc10 |
C |
T |
8: 80,455,779 (GRCm39) |
T76I |
probably benign |
Het |
| Atosa |
T |
C |
9: 74,913,649 (GRCm39) |
L94P |
probably damaging |
Het |
| Bptf |
C |
T |
11: 106,965,474 (GRCm39) |
S1177N |
probably benign |
Het |
| Bsn |
A |
T |
9: 107,984,726 (GRCm39) |
Y337* |
probably null |
Het |
| Ccl20 |
T |
A |
1: 83,095,580 (GRCm39) |
V48E |
possibly damaging |
Het |
| Ccnl1 |
C |
T |
3: 65,864,320 (GRCm39) |
D122N |
probably damaging |
Het |
| Chat |
C |
G |
14: 32,176,567 (GRCm39) |
G69A |
probably damaging |
Het |
| Cr2 |
T |
A |
1: 194,841,039 (GRCm39) |
I418F |
possibly damaging |
Het |
| Dmxl1 |
G |
C |
18: 50,011,862 (GRCm39) |
A1340P |
probably damaging |
Het |
| Eef2k |
G |
A |
7: 120,491,155 (GRCm39) |
R547Q |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,937,935 (GRCm39) |
S793N |
probably benign |
Het |
| Enox1 |
T |
A |
14: 77,958,290 (GRCm39) |
L632Q |
probably damaging |
Het |
| Fabp9 |
T |
C |
3: 10,259,738 (GRCm39) |
K92E |
probably damaging |
Het |
| Fam234a |
T |
C |
17: 26,432,559 (GRCm39) |
H530R |
probably benign |
Het |
| Fancm |
C |
T |
12: 65,149,417 (GRCm39) |
Q728* |
probably null |
Het |
| Fgd3 |
G |
A |
13: 49,417,465 (GRCm39) |
T666M |
possibly damaging |
Het |
| Foxs1 |
T |
C |
2: 152,774,301 (GRCm39) |
M251V |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,818,438 (GRCm39) |
M4724L |
probably benign |
Het |
| Gemin6 |
G |
A |
17: 80,535,327 (GRCm39) |
E96K |
probably damaging |
Het |
| Gfi1 |
C |
A |
5: 107,871,152 (GRCm39) |
V80F |
probably damaging |
Het |
| H3c13 |
G |
T |
3: 96,176,277 (GRCm39) |
V90F |
possibly damaging |
Het |
| Hectd1 |
A |
G |
12: 51,847,505 (GRCm39) |
V442A |
probably damaging |
Het |
| Ift80 |
A |
G |
3: 68,857,829 (GRCm39) |
I272T |
probably damaging |
Het |
| Impact |
C |
G |
18: 13,119,430 (GRCm39) |
A214G |
probably damaging |
Het |
| Insl6 |
C |
T |
19: 29,302,556 (GRCm39) |
E54K |
probably benign |
Het |
| Irak3 |
T |
A |
10: 120,018,586 (GRCm39) |
D54V |
probably damaging |
Het |
| Itk |
C |
T |
11: 46,227,171 (GRCm39) |
|
probably null |
Het |
| Ivl |
A |
T |
3: 92,479,718 (GRCm39) |
C116S |
probably benign |
Het |
| Kcnq4 |
G |
A |
4: 120,570,260 (GRCm39) |
A361V |
probably benign |
Het |
| L1td1 |
C |
T |
4: 98,625,548 (GRCm39) |
P581L |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,358,905 (GRCm39) |
E656G |
probably benign |
Het |
| Macrod2 |
A |
G |
2: 140,261,985 (GRCm39) |
T89A |
possibly damaging |
Het |
| Mettl13 |
T |
C |
1: 162,364,837 (GRCm39) |
D514G |
probably damaging |
Het |
| Mfsd13b |
A |
T |
7: 120,590,711 (GRCm39) |
I151F |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,383,382 (GRCm39) |
E394G |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,488,892 (GRCm39) |
S688T |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,176,058 (GRCm39) |
Y1467C |
probably damaging |
Het |
| Nhsl3 |
C |
T |
4: 129,118,238 (GRCm39) |
R214Q |
probably damaging |
Het |
| Nkx6-3 |
C |
A |
8: 23,643,914 (GRCm39) |
P105Q |
possibly damaging |
Het |
| Nlrp1b |
T |
C |
11: 71,108,710 (GRCm39) |
T264A |
possibly damaging |
Het |
| Nnat |
G |
A |
2: 157,403,678 (GRCm39) |
C122Y |
probably damaging |
Het |
| Notch3 |
G |
A |
17: 32,360,351 (GRCm39) |
R1527C |
probably damaging |
Het |
| Or2y16 |
C |
T |
11: 49,335,449 (GRCm39) |
T257I |
probably damaging |
Het |
| Or5an1c |
T |
G |
19: 12,218,082 (GRCm39) |
|
probably null |
Het |
| Or5h18 |
A |
G |
16: 58,847,518 (GRCm39) |
Y251H |
probably damaging |
Het |
| Pds5b |
C |
T |
5: 150,639,927 (GRCm39) |
T14I |
probably benign |
Het |
| Phf19 |
A |
T |
2: 34,789,718 (GRCm39) |
I334N |
probably damaging |
Het |
| Pik3ap1 |
T |
C |
19: 41,364,365 (GRCm39) |
D118G |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,140,712 (GRCm39) |
E3886V |
possibly damaging |
Het |
| Pkp1 |
A |
G |
1: 135,846,690 (GRCm39) |
S21P |
possibly damaging |
Het |
| Pramel32 |
T |
A |
4: 88,546,219 (GRCm39) |
L374F |
possibly damaging |
Het |
| Rack1 |
C |
A |
11: 48,696,463 (GRCm39) |
A290E |
probably damaging |
Het |
| Rbm15 |
A |
G |
3: 107,239,570 (GRCm39) |
V276A |
probably benign |
Het |
| Rnf216 |
A |
T |
5: 143,076,335 (GRCm39) |
L183* |
probably null |
Het |
| Sc5d |
T |
C |
9: 42,166,922 (GRCm39) |
I206V |
probably benign |
Het |
| Scpep1 |
A |
G |
11: 88,826,737 (GRCm39) |
I233T |
probably benign |
Het |
| Sh3pxd2a |
A |
G |
19: 47,257,132 (GRCm39) |
Y529H |
probably damaging |
Het |
| Slc1a4 |
A |
C |
11: 20,254,384 (GRCm39) |
V494G |
probably damaging |
Het |
| Slc38a7 |
T |
C |
8: 96,575,230 (GRCm39) |
T17A |
probably benign |
Het |
| Smg6 |
T |
C |
11: 74,932,744 (GRCm39) |
S73P |
probably damaging |
Het |
| Stk32b |
T |
C |
5: 37,624,141 (GRCm39) |
Y202C |
probably damaging |
Het |
| Tas2r140 |
A |
G |
6: 40,468,334 (GRCm39) |
S55G |
probably damaging |
Het |
| Tcf12 |
C |
T |
9: 71,766,122 (GRCm39) |
G504S |
probably null |
Het |
| Ttc3 |
G |
C |
16: 94,227,690 (GRCm39) |
|
probably null |
Het |
| Ttc3 |
T |
C |
16: 94,220,324 (GRCm39) |
I568T |
probably damaging |
Het |
| Ttc41 |
T |
G |
10: 86,594,966 (GRCm39) |
N913K |
possibly damaging |
Het |
| Vrk1 |
G |
A |
12: 106,024,231 (GRCm39) |
V236M |
probably damaging |
Het |
| Wscd1 |
C |
T |
11: 71,650,972 (GRCm39) |
R100C |
probably damaging |
Het |
| Zc3h18 |
C |
T |
8: 123,128,445 (GRCm39) |
|
probably benign |
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 |
|
R0586:Mical3
|
UTSW |
6 |
121,006,602 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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'- ACACAGCAACAGTGACTTGG -3'
(R):5'- AGGCTGTAGGCAAACTTTGG -3'
Sequencing Primer
(F):5'- CAACAGTGACTTGGAGGCC -3'
(R):5'- TAGGCAAACTTTGGACCTGGC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation