Incidental Mutation 'R2257:Mical3'
ID |
243448 |
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 |
040257-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R2257 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
120908668-121107959 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 121010696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 429
(S429T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146544
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077159]
[ENSMUST00000203254]
[ENSMUST00000204248]
[ENSMUST00000207889]
|
AlphaFold |
Q8CJ19 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077159
AA Change: S429T
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000076402 Gene: ENSMUSG00000051586 AA Change: S429T
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 |
possibly damaging
Transcript: ENSMUST00000203254
AA Change: S429T
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000145254 Gene: ENSMUSG00000051586 AA Change: S429T
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: S429T
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000145439 Gene: ENSMUSG00000051586 AA Change: S429T
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 |
possibly damaging
Transcript: ENSMUST00000207889
AA Change: S429T
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
Meta Mutation Damage Score |
0.1628 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
96% (70/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
A |
T |
X: 69,438,012 (GRCm39) |
W94R |
probably damaging |
Het |
Abcc3 |
C |
T |
11: 94,254,420 (GRCm39) |
V693M |
probably damaging |
Het |
Acp7 |
A |
C |
7: 28,313,838 (GRCm39) |
W399G |
probably damaging |
Het |
Ap1s1 |
T |
C |
5: 137,070,633 (GRCm39) |
Y94C |
possibly damaging |
Het |
Arhgap32 |
T |
C |
9: 32,158,793 (GRCm39) |
I186T |
probably damaging |
Het |
Atg4a |
A |
G |
X: 139,890,984 (GRCm39) |
I91V |
probably benign |
Het |
Atp7b |
T |
G |
8: 22,488,282 (GRCm39) |
T1102P |
probably damaging |
Het |
Cabs1 |
T |
C |
5: 88,128,074 (GRCm39) |
S242P |
probably damaging |
Het |
Cass4 |
T |
C |
2: 172,269,390 (GRCm39) |
F493L |
probably damaging |
Het |
Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
Cdk14 |
T |
A |
5: 4,938,924 (GRCm39) |
M433L |
probably benign |
Het |
Cep162 |
C |
A |
9: 87,088,967 (GRCm39) |
D972Y |
probably damaging |
Het |
Cfap100 |
C |
G |
6: 90,390,802 (GRCm39) |
R184P |
possibly damaging |
Het |
Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
Clasrp |
A |
G |
7: 19,320,510 (GRCm39) |
|
probably benign |
Het |
Copb1 |
T |
A |
7: 113,853,110 (GRCm39) |
D29V |
possibly damaging |
Het |
Cyp2b9 |
G |
A |
7: 25,873,030 (GRCm39) |
|
probably null |
Het |
Dhx36 |
C |
T |
3: 62,385,064 (GRCm39) |
G683S |
probably damaging |
Het |
Dnaaf11 |
T |
A |
15: 66,309,436 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
T |
A |
5: 124,838,301 (GRCm39) |
I1110N |
probably damaging |
Het |
Dnajc3 |
C |
G |
14: 119,210,114 (GRCm39) |
P322A |
probably benign |
Het |
Eml4 |
A |
G |
17: 83,785,189 (GRCm39) |
T785A |
probably damaging |
Het |
Fam228a |
T |
C |
12: 4,787,775 (GRCm39) |
|
probably benign |
Het |
Fam83e |
A |
T |
7: 45,378,193 (GRCm39) |
K406* |
probably null |
Het |
Fam83e |
A |
T |
7: 45,378,194 (GRCm39) |
K406M |
possibly damaging |
Het |
Fam90a1a |
T |
A |
8: 22,453,533 (GRCm39) |
L296Q |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,403,408 (GRCm39) |
Y53C |
probably damaging |
Het |
Fcrl2 |
T |
C |
3: 87,166,928 (GRCm39) |
I22V |
probably damaging |
Het |
Fryl |
T |
A |
5: 73,230,187 (GRCm39) |
N1657Y |
possibly damaging |
Het |
Greb1l |
A |
G |
18: 10,503,307 (GRCm39) |
M453V |
possibly damaging |
Het |
Grm8 |
A |
T |
6: 27,760,224 (GRCm39) |
C369S |
probably damaging |
Het |
Hdc |
G |
A |
2: 126,458,000 (GRCm39) |
|
probably null |
Het |
Hsf3 |
A |
T |
X: 95,363,928 (GRCm39) |
L191* |
probably null |
Het |
Iqca1l |
C |
T |
5: 24,757,038 (GRCm39) |
|
probably benign |
Het |
Kif4 |
A |
T |
X: 99,769,737 (GRCm39) |
N1126Y |
probably benign |
Het |
Lat2 |
T |
C |
5: 134,631,481 (GRCm39) |
D191G |
probably damaging |
Het |
Lipt2 |
C |
T |
7: 99,808,601 (GRCm39) |
T38I |
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,137,566 (GRCm39) |
L634P |
probably damaging |
Het |
Magea2 |
A |
T |
X: 153,810,855 (GRCm39) |
L243Q |
probably damaging |
Het |
Mctp2 |
A |
G |
7: 71,835,568 (GRCm39) |
L543P |
probably damaging |
Het |
Mgat4a |
T |
C |
1: 37,529,394 (GRCm39) |
N24D |
probably benign |
Het |
Mrps35 |
A |
G |
6: 146,972,125 (GRCm39) |
E256G |
possibly damaging |
Het |
Mybbp1a |
T |
A |
11: 72,337,021 (GRCm39) |
S586T |
probably benign |
Het |
Myo1e |
G |
A |
9: 70,285,655 (GRCm39) |
|
probably null |
Het |
Nob1 |
A |
G |
8: 108,143,729 (GRCm39) |
|
probably benign |
Het |
Nom1 |
T |
A |
5: 29,642,750 (GRCm39) |
V417D |
probably damaging |
Het |
Nphs1 |
A |
T |
7: 30,167,417 (GRCm39) |
I782F |
possibly damaging |
Het |
Numa1 |
A |
G |
7: 101,649,998 (GRCm39) |
E1243G |
probably damaging |
Het |
Or52e7 |
A |
G |
7: 104,685,026 (GRCm39) |
Y207C |
probably benign |
Het |
Or7g27 |
A |
G |
9: 19,249,789 (GRCm39) |
E11G |
probably benign |
Het |
Padi4 |
G |
A |
4: 140,487,251 (GRCm39) |
T217I |
possibly damaging |
Het |
Pias3 |
C |
T |
3: 96,606,962 (GRCm39) |
T75I |
probably benign |
Het |
Ppp1r37 |
G |
T |
7: 19,295,943 (GRCm39) |
|
probably benign |
Het |
Prrc2a |
G |
A |
17: 35,380,044 (GRCm39) |
P185L |
unknown |
Het |
Prss57 |
C |
T |
10: 79,623,204 (GRCm39) |
C81Y |
probably damaging |
Het |
Psen1 |
C |
T |
12: 83,761,594 (GRCm39) |
S132L |
probably damaging |
Het |
Ranbp6 |
A |
G |
19: 29,788,949 (GRCm39) |
S468P |
possibly damaging |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Slc2a9 |
T |
C |
5: 38,610,542 (GRCm39) |
T86A |
probably damaging |
Het |
Slco1a6 |
A |
T |
6: 142,036,742 (GRCm39) |
M555K |
probably benign |
Het |
Thoc1 |
C |
A |
18: 9,993,466 (GRCm39) |
D608E |
possibly damaging |
Het |
Tmem121b |
A |
T |
6: 120,469,030 (GRCm39) |
Y562* |
probably null |
Het |
Tmem121b |
A |
G |
6: 120,469,032 (GRCm39) |
Y562H |
probably damaging |
Het |
Tmprss7 |
A |
T |
16: 45,506,696 (GRCm39) |
M122K |
possibly damaging |
Het |
Tmub1 |
C |
A |
5: 24,651,922 (GRCm39) |
G14V |
possibly damaging |
Het |
Uap1 |
A |
T |
1: 169,986,312 (GRCm39) |
|
probably benign |
Het |
Ugdh |
A |
T |
5: 65,574,458 (GRCm39) |
|
probably benign |
Het |
Vmn2r59 |
A |
T |
7: 41,661,669 (GRCm39) |
C715* |
probably null |
Het |
Vps13a |
G |
A |
19: 16,659,538 (GRCm39) |
T1663I |
possibly damaging |
Het |
Vps13c |
A |
C |
9: 67,860,228 (GRCm39) |
I2815L |
possibly damaging |
Het |
Zc3h3 |
G |
T |
15: 75,711,415 (GRCm39) |
Q349K |
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 |
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 |
|
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'- GCTCACATGATTACTGGAAAGAATC -3'
(R):5'- TGGGAGTTGTACCAGCAAGG -3'
Sequencing Primer
(F):5'- TGGGCAGACCACCTTGAG -3'
(R):5'- TACCAGCAAGGAGAAAAGATCTTTG -3'
|
Posted On |
2014-10-16 |