Incidental Mutation 'R8511:Mical3'
ID |
655867 |
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 |
067888-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R8511 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
120908668-121107959 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121015513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 175
(I175T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076402
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077159]
[ENSMUST00000203254]
[ENSMUST00000204248]
[ENSMUST00000207889]
[ENSMUST00000207968]
[ENSMUST00000207993]
|
AlphaFold |
Q8CJ19 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077159
AA Change: I175T
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000076402 Gene: ENSMUSG00000051586 AA Change: I175T
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: I175T
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000145254 Gene: ENSMUSG00000051586 AA Change: I175T
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: I175T
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000145439 Gene: ENSMUSG00000051586 AA Change: I175T
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 |
possibly damaging
Transcript: ENSMUST00000207889
AA Change: I175T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207968
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207993
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930512M02Rik |
T |
C |
11: 11,540,056 (GRCm39) |
H186R |
unknown |
Het |
6430548M08Rik |
A |
G |
8: 120,879,301 (GRCm39) |
N233S |
probably benign |
Het |
Acan |
A |
G |
7: 78,747,683 (GRCm39) |
D818G |
possibly damaging |
Het |
Adam22 |
G |
A |
5: 8,184,558 (GRCm39) |
T478I |
probably damaging |
Het |
Afg2a |
A |
G |
3: 37,490,897 (GRCm39) |
M481V |
probably damaging |
Het |
Agmo |
T |
A |
12: 37,294,396 (GRCm39) |
*115R |
probably null |
Het |
Ahnak |
A |
G |
19: 8,989,719 (GRCm39) |
K3668E |
unknown |
Het |
Aldh6a1 |
G |
A |
12: 84,480,745 (GRCm39) |
T430I |
possibly damaging |
Het |
Ankrd11 |
T |
C |
8: 123,626,468 (GRCm39) |
D17G |
|
Het |
Apol10b |
C |
G |
15: 77,469,210 (GRCm39) |
E322D |
probably benign |
Het |
Apol10b |
T |
C |
15: 77,469,211 (GRCm39) |
E322G |
probably benign |
Het |
Apol8 |
C |
T |
15: 77,634,273 (GRCm39) |
G101E |
probably benign |
Het |
Arhgef26 |
A |
T |
3: 62,336,350 (GRCm39) |
M630L |
probably damaging |
Het |
Aspm |
T |
C |
1: 139,385,046 (GRCm39) |
L230P |
probably damaging |
Het |
Atg101 |
T |
C |
15: 101,188,503 (GRCm39) |
S203P |
probably damaging |
Het |
Baz2b |
T |
A |
2: 59,732,158 (GRCm39) |
T1996S |
probably benign |
Het |
Brwd1 |
A |
T |
16: 95,859,938 (GRCm39) |
M350K |
probably damaging |
Het |
Cad |
A |
G |
5: 31,233,165 (GRCm39) |
K1869R |
probably benign |
Het |
Caskin1 |
A |
T |
17: 24,724,910 (GRCm39) |
I1233F |
probably benign |
Het |
Ckap5 |
T |
A |
2: 91,445,492 (GRCm39) |
L1770I |
possibly damaging |
Het |
Clip1 |
T |
C |
5: 123,791,969 (GRCm39) |
N67S |
possibly damaging |
Het |
Csmd2 |
A |
G |
4: 128,262,692 (GRCm39) |
N626S |
|
Het |
Cuedc2 |
C |
A |
19: 46,319,358 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
A |
T |
7: 130,703,742 (GRCm39) |
N1275Y |
unknown |
Het |
Dnm3 |
A |
G |
1: 162,113,611 (GRCm39) |
V483A |
possibly damaging |
Het |
Dock9 |
A |
T |
14: 121,864,801 (GRCm39) |
H718Q |
probably benign |
Het |
Dock9 |
T |
C |
14: 121,918,847 (GRCm39) |
D50G |
probably damaging |
Het |
Egfr |
T |
G |
11: 16,846,949 (GRCm39) |
I782S |
probably damaging |
Het |
Elmod1 |
A |
T |
9: 53,820,095 (GRCm39) |
F298I |
probably damaging |
Het |
Enthd1 |
T |
C |
15: 80,358,428 (GRCm39) |
Q364R |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,200,063 (GRCm39) |
S1004C |
probably damaging |
Het |
Fga |
A |
T |
3: 82,939,064 (GRCm39) |
K480* |
probably null |
Het |
Fhod3 |
A |
G |
18: 25,265,994 (GRCm39) |
T1561A |
probably damaging |
Het |
Foxg1 |
T |
A |
12: 49,431,868 (GRCm39) |
Y200* |
probably null |
Het |
Foxj2 |
C |
T |
6: 122,808,404 (GRCm39) |
R115* |
probably null |
Het |
Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
Gpsm2 |
A |
G |
3: 108,589,399 (GRCm39) |
S580P |
probably benign |
Het |
Hectd1 |
A |
G |
12: 51,834,654 (GRCm39) |
S870P |
probably benign |
Het |
Hic2 |
T |
A |
16: 17,075,874 (GRCm39) |
N234K |
possibly damaging |
Het |
Ica1 |
A |
G |
6: 8,754,726 (GRCm39) |
F15L |
probably benign |
Het |
Immp1l |
G |
A |
2: 105,761,100 (GRCm39) |
R3H |
probably benign |
Het |
Iqca1l |
T |
A |
5: 24,750,906 (GRCm39) |
H559L |
possibly damaging |
Het |
Jak3 |
T |
A |
8: 72,138,194 (GRCm39) |
Y882N |
probably damaging |
Het |
Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
Luzp1 |
A |
G |
4: 136,268,650 (GRCm39) |
D291G |
probably damaging |
Het |
Map3k19 |
C |
T |
1: 127,775,155 (GRCm39) |
E61K |
possibly damaging |
Het |
Nectin3 |
G |
A |
16: 46,284,363 (GRCm39) |
P107L |
probably damaging |
Het |
Or10d5 |
A |
G |
9: 39,861,455 (GRCm39) |
V204A |
probably benign |
Het |
Pira1 |
A |
G |
7: 3,742,347 (GRCm39) |
L60P |
probably damaging |
Het |
Polr1a |
C |
A |
6: 71,897,504 (GRCm39) |
H207N |
probably benign |
Het |
Prokr2 |
A |
G |
2: 132,223,422 (GRCm39) |
V40A |
probably benign |
Het |
Prtg |
T |
C |
9: 72,798,156 (GRCm39) |
|
probably null |
Het |
Ptprs |
G |
A |
17: 56,754,440 (GRCm39) |
T200I |
probably damaging |
Het |
Ramp3 |
C |
T |
11: 6,626,709 (GRCm39) |
R139C |
probably benign |
Het |
Scfd2 |
A |
G |
5: 74,372,949 (GRCm39) |
V642A |
possibly damaging |
Het |
Scn11a |
T |
C |
9: 119,618,981 (GRCm39) |
K787R |
probably damaging |
Het |
Slco3a1 |
A |
G |
7: 73,952,990 (GRCm39) |
V523A |
probably benign |
Het |
Smo |
A |
G |
6: 29,755,531 (GRCm39) |
Y401C |
probably damaging |
Het |
Stmn2 |
A |
G |
3: 8,574,615 (GRCm39) |
|
probably benign |
Het |
Stra6l |
G |
T |
4: 45,885,347 (GRCm39) |
G605V |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,055,647 (GRCm39) |
I4170V |
probably benign |
Het |
Tgm7 |
T |
A |
2: 120,924,141 (GRCm39) |
I594F |
probably damaging |
Het |
Tle2 |
T |
C |
10: 81,423,830 (GRCm39) |
L648P |
probably damaging |
Het |
Tmprss2 |
G |
T |
16: 97,369,662 (GRCm39) |
L371I |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,579,866 (GRCm39) |
R23676G |
probably damaging |
Het |
Tvp23b |
T |
C |
11: 62,774,563 (GRCm39) |
I69T |
possibly damaging |
Het |
Vmn2r66 |
A |
T |
7: 84,656,026 (GRCm39) |
I330N |
probably damaging |
Het |
Vmn2r99 |
A |
T |
17: 19,614,443 (GRCm39) |
D721V |
probably damaging |
Het |
Zan |
A |
T |
5: 137,445,108 (GRCm39) |
V1717E |
unknown |
Het |
Zmiz2 |
C |
T |
11: 6,353,190 (GRCm39) |
H658Y |
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 |
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 |
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'- GAACAAAGCCCCTTTAGTCACG -3'
(R):5'- TCCTTTACGATGCGGAGAAAG -3'
Sequencing Primer
(F):5'- TTAGTCACGGCTGAAACTGC -3'
(R):5'- CTCGTGAAGCACATCTCTGC -3'
|
Posted On |
2020-10-20 |