Incidental Mutation 'R4722:Mical3'
| ID |
354534 |
| 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 |
041987-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R4722 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
120908668-121107959 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121015486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 184
(Q184R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077159]
[ENSMUST00000203254]
[ENSMUST00000204248]
[ENSMUST00000207889]
[ENSMUST00000207968]
[ENSMUST00000207993]
|
| AlphaFold |
Q8CJ19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077159
AA Change: Q184R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000076402
Gene: ENSMUSG00000051586
AA Change: Q184R
| 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 |
probably benign
Transcript: ENSMUST00000203254
AA Change: Q184R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000145254
Gene: ENSMUSG00000051586
AA Change: Q184R
| 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
AA Change: Q184R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000145439
Gene: ENSMUSG00000051586
AA Change: Q184R
| 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: ENSMUST00000204994
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207889
AA Change: Q184R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207968
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207993
|
| Meta Mutation Damage Score |
0.0624 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
99% (68/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
G |
T |
12: 55,107,922 (GRCm39) |
D92E |
probably benign |
Het |
| Abca17 |
A |
G |
17: 24,484,403 (GRCm39) |
F1620L |
probably damaging |
Het |
| Abcf1 |
T |
C |
17: 36,268,933 (GRCm39) |
|
probably benign |
Het |
| Adtrp |
T |
C |
13: 41,920,823 (GRCm39) |
H248R |
probably benign |
Het |
| Aldh1b1 |
T |
G |
4: 45,803,472 (GRCm39) |
F337V |
probably damaging |
Het |
| Amz2 |
C |
T |
11: 109,325,457 (GRCm39) |
L272F |
probably damaging |
Het |
| Asic2 |
A |
T |
11: 81,859,009 (GRCm39) |
M1K |
probably null |
Het |
| Avpr1a |
T |
A |
10: 122,284,906 (GRCm39) |
V66E |
possibly damaging |
Het |
| AW554918 |
C |
A |
18: 25,307,772 (GRCm39) |
Y28* |
probably null |
Het |
| Cdc25b |
C |
T |
2: 131,035,271 (GRCm39) |
P343L |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,822,445 (GRCm39) |
I846K |
probably damaging |
Het |
| Dnajc13 |
A |
T |
9: 104,091,017 (GRCm39) |
M688K |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,586,298 (GRCm39) |
I505F |
probably damaging |
Het |
| Dpy19l4 |
A |
G |
4: 11,290,521 (GRCm39) |
V290A |
possibly damaging |
Het |
| Dtl |
G |
T |
1: 191,288,953 (GRCm39) |
Q254K |
possibly damaging |
Het |
| Enpp2 |
T |
G |
15: 54,750,985 (GRCm39) |
K265T |
probably damaging |
Het |
| Epm2aip1 |
TGTCGCCG |
TG |
9: 111,101,152 (GRCm39) |
|
probably benign |
Het |
| Fam133b |
T |
A |
5: 3,593,949 (GRCm39) |
|
probably null |
Het |
| Fuom |
A |
G |
7: 139,679,480 (GRCm39) |
|
probably benign |
Het |
| Fut9 |
T |
C |
4: 25,799,734 (GRCm39) |
|
probably benign |
Het |
| Gas8 |
T |
A |
8: 124,252,374 (GRCm39) |
I171N |
possibly damaging |
Het |
| Gipc3 |
T |
G |
10: 81,177,129 (GRCm39) |
D147A |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm5591 |
T |
C |
7: 38,218,572 (GRCm39) |
K767R |
probably damaging |
Het |
| Kctd8 |
G |
A |
5: 69,498,544 (GRCm39) |
P34L |
possibly damaging |
Het |
| Kmt2b |
G |
A |
7: 30,282,627 (GRCm39) |
R403C |
probably damaging |
Het |
| Krt84 |
A |
T |
15: 101,436,846 (GRCm39) |
I396N |
probably damaging |
Het |
| Lrrk2 |
C |
A |
15: 91,573,104 (GRCm39) |
F217L |
probably damaging |
Het |
| Med27 |
T |
A |
2: 29,414,447 (GRCm39) |
D290E |
probably damaging |
Het |
| Mlxip |
A |
T |
5: 123,585,265 (GRCm39) |
K591M |
probably benign |
Het |
| Mutyh |
T |
A |
4: 116,674,069 (GRCm39) |
L233H |
probably damaging |
Het |
| Naip6 |
G |
T |
13: 100,443,580 (GRCm39) |
H253N |
possibly damaging |
Het |
| Nynrin |
A |
G |
14: 56,091,852 (GRCm39) |
E56G |
probably damaging |
Het |
| Oip5 |
C |
T |
2: 119,443,492 (GRCm39) |
|
probably null |
Het |
| Or10a4 |
T |
A |
7: 106,696,777 (GRCm39) |
I35N |
possibly damaging |
Het |
| Or10ak12 |
T |
C |
4: 118,666,146 (GRCm39) |
N305S |
probably damaging |
Het |
| Or4c104 |
T |
G |
2: 88,586,356 (GRCm39) |
H221P |
possibly damaging |
Het |
| Or4c15 |
T |
C |
2: 88,760,324 (GRCm39) |
I112V |
possibly damaging |
Het |
| Or5p61 |
T |
A |
7: 107,758,445 (GRCm39) |
I212F |
probably benign |
Het |
| Oxr1 |
T |
C |
15: 41,677,045 (GRCm39) |
S132P |
probably damaging |
Het |
| Pcdhac1 |
C |
T |
18: 37,224,933 (GRCm39) |
T582I |
probably damaging |
Het |
| Prl7a2 |
A |
G |
13: 27,844,858 (GRCm39) |
I176T |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,169,734 (GRCm39) |
T30A |
possibly damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,976,480 (GRCm39) |
M1294T |
probably benign |
Het |
| Rbm22 |
G |
A |
18: 60,697,463 (GRCm39) |
R56H |
probably damaging |
Het |
| Rnmt |
T |
A |
18: 68,438,952 (GRCm39) |
N20K |
probably damaging |
Het |
| Scn7a |
T |
A |
2: 66,531,228 (GRCm39) |
T550S |
possibly damaging |
Het |
| Shank1 |
T |
A |
7: 43,962,638 (GRCm39) |
Y117* |
probably null |
Het |
| Skint5 |
T |
A |
4: 113,751,052 (GRCm39) |
K331I |
unknown |
Het |
| Slc5a1 |
A |
G |
5: 33,304,055 (GRCm39) |
Y290C |
possibly damaging |
Het |
| Slfn14 |
T |
C |
11: 83,174,244 (GRCm39) |
E249G |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,650,496 (GRCm39) |
S544P |
probably damaging |
Het |
| St6galnac3 |
A |
T |
3: 153,117,166 (GRCm39) |
Y186N |
probably damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,420,900 (GRCm39) |
F346S |
probably damaging |
Het |
| Tdrd5 |
A |
T |
1: 156,129,945 (GRCm39) |
I75K |
probably benign |
Het |
| Tnrc6a |
T |
C |
7: 122,791,313 (GRCm39) |
M1737T |
possibly damaging |
Het |
| Toe1 |
A |
T |
4: 116,662,397 (GRCm39) |
Y283N |
probably damaging |
Het |
| Tubal3 |
G |
T |
13: 3,978,185 (GRCm39) |
G34C |
probably damaging |
Het |
| Uxs1 |
A |
G |
1: 43,814,006 (GRCm39) |
L77P |
probably damaging |
Het |
| Vmn1r212 |
T |
C |
13: 23,068,078 (GRCm39) |
Y85C |
probably damaging |
Het |
| Yju2b |
A |
T |
8: 84,985,439 (GRCm39) |
C277S |
probably benign |
Het |
| Zdhhc4 |
A |
G |
5: 143,307,536 (GRCm39) |
S162P |
probably damaging |
Het |
| Zfp712 |
A |
G |
13: 67,190,177 (GRCm39) |
S117P |
probably benign |
Het |
| Zic4 |
G |
T |
9: 91,261,257 (GRCm39) |
G164C |
probably 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 |
|
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 |
|
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'- AAAGGCCTCTTAGGTAACGC -3'
(R):5'- TGCTGTGATAACCTTTGGGAAC -3'
Sequencing Primer
(F):5'- GCCTCTTAGGTAACGCGAAAGTC -3'
(R):5'- CCTGAGCTAAGATGGATGGGCC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation