Incidental Mutation 'IGL02065:Mical1'
| ID |
185582 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mical1
|
| Ensembl Gene |
ENSMUSG00000019823 |
| Gene Name |
microtubule associated monooxygenase, calponin and LIM domain containing 1 |
| Synonyms |
Nical |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
IGL02065
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
41352310-41363028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41360407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 615
(K615N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019965]
[ENSMUST00000019967]
[ENSMUST00000099934]
[ENSMUST00000119962]
[ENSMUST00000126436]
[ENSMUST00000155411]
|
| AlphaFold |
Q8VDP3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019965
|
| SMART Domains |
Protein: ENSMUSP00000019965
Gene: ENSMUSG00000019822
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Exo_endo_phos
|
11 |
272 |
3.9e-24 |
PFAM |
|
transmembrane domain
|
322 |
344 |
N/A |
INTRINSIC |
|
transmembrane domain
|
353 |
375 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019967
AA Change: K688N
PolyPhen 2
Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000019967
Gene: ENSMUSG00000019823
AA Change: K688N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAD_binding_3
|
84 |
140 |
5.5e-8 |
PFAM |
|
Pfam:FAD_binding_2
|
86 |
125 |
6.1e-6 |
PFAM |
|
low complexity region
|
160 |
171 |
N/A |
INTRINSIC |
|
CH
|
509 |
606 |
4.18e-13 |
SMART |
|
low complexity region
|
649 |
666 |
N/A |
INTRINSIC |
|
LIM
|
682 |
736 |
2.07e-3 |
SMART |
|
low complexity region
|
766 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
787 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
877 |
N/A |
INTRINSIC |
|
DUF3585
|
912 |
1048 |
3.07e-44 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099934
AA Change: K615N
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097519
Gene: ENSMUSG00000019823
AA Change: K615N
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2C4C|B
|
1 |
86 |
5e-49 |
PDB |
|
low complexity region
|
87 |
98 |
N/A |
INTRINSIC |
|
PDB:2C4C|B
|
99 |
416 |
N/A |
PDB |
|
CH
|
436 |
533 |
4.18e-13 |
SMART |
|
low complexity region
|
576 |
593 |
N/A |
INTRINSIC |
|
LIM
|
609 |
663 |
2.07e-3 |
SMART |
|
low complexity region
|
693 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
730 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
804 |
N/A |
INTRINSIC |
|
DUF3585
|
839 |
975 |
3.07e-44 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119962
AA Change: K688N
PolyPhen 2
Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113783
Gene: ENSMUSG00000019823
AA Change: K688N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAD_binding_3
|
84 |
140 |
7.2e-8 |
PFAM |
|
Pfam:FAD_binding_2
|
86 |
125 |
3.8e-6 |
PFAM |
|
low complexity region
|
160 |
171 |
N/A |
INTRINSIC |
|
CH
|
509 |
606 |
4.18e-13 |
SMART |
|
low complexity region
|
649 |
666 |
N/A |
INTRINSIC |
|
LIM
|
682 |
736 |
2.07e-3 |
SMART |
|
low complexity region
|
766 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
787 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
877 |
N/A |
INTRINSIC |
|
DUF3585
|
912 |
1048 |
3.07e-44 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125099
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126436
AA Change: K688N
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114969
Gene: ENSMUSG00000019823
AA Change: K688N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAD_binding_3
|
84 |
140 |
1.1e-7 |
PFAM |
|
Pfam:FAD_binding_2
|
86 |
125 |
3.2e-6 |
PFAM |
|
low complexity region
|
160 |
171 |
N/A |
INTRINSIC |
|
CH
|
509 |
606 |
4.18e-13 |
SMART |
|
low complexity region
|
649 |
666 |
N/A |
INTRINSIC |
|
LIM
|
682 |
736 |
2.07e-3 |
SMART |
|
low complexity region
|
766 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
787 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
877 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141542
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130838
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147367
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138657
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134010
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126833
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155411
|
| SMART Domains |
Protein: ENSMUSP00000115461
Gene: ENSMUSG00000019822
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d2dnja_
|
9 |
81 |
2e-4 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that oxidizes methionine residues on actin, thereby promoting depolymerization of actin filaments. This protein interacts with and regulates signalling by NEDD9/CAS-L (neural precursor cell expressed, developmentally down-regulated 9). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
C |
T |
17: 46,623,827 (GRCm39) |
E770K |
possibly damaging |
Het |
| Abhd17a |
C |
A |
10: 80,422,395 (GRCm39) |
A22S |
probably benign |
Het |
| Actbl2 |
A |
G |
13: 111,392,225 (GRCm39) |
T187A |
probably benign |
Het |
| Adgrl3 |
G |
A |
5: 81,660,064 (GRCm39) |
G278R |
probably damaging |
Het |
| Apoh |
C |
A |
11: 108,305,131 (GRCm39) |
|
probably benign |
Het |
| Atp2b2 |
A |
G |
6: 113,790,828 (GRCm39) |
F192S |
probably damaging |
Het |
| Bdh1 |
T |
C |
16: 31,268,754 (GRCm39) |
I163T |
possibly damaging |
Het |
| Bmp1 |
G |
T |
14: 70,723,660 (GRCm39) |
N725K |
probably damaging |
Het |
| Bmp1 |
T |
A |
14: 70,727,547 (GRCm39) |
I679F |
probably damaging |
Het |
| Bmp2 |
T |
A |
2: 133,402,844 (GRCm39) |
F132I |
probably benign |
Het |
| Bpifb5 |
T |
C |
2: 154,069,103 (GRCm39) |
L140P |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,731,279 (GRCm39) |
|
probably benign |
Het |
| Ccdc57 |
T |
C |
11: 120,764,586 (GRCm39) |
T730A |
possibly damaging |
Het |
| Cdh10 |
G |
T |
15: 19,013,342 (GRCm39) |
K647N |
probably damaging |
Het |
| Cdh17 |
A |
C |
4: 11,771,373 (GRCm39) |
|
probably benign |
Het |
| Cep126 |
A |
G |
9: 8,099,925 (GRCm39) |
S870P |
probably benign |
Het |
| Col6a4 |
T |
C |
9: 105,954,302 (GRCm39) |
T346A |
probably damaging |
Het |
| Csmd3 |
A |
C |
15: 47,530,024 (GRCm39) |
V2592G |
probably damaging |
Het |
| Dnajc16 |
A |
T |
4: 141,504,244 (GRCm39) |
F239I |
probably damaging |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| F5 |
G |
A |
1: 164,017,695 (GRCm39) |
V591M |
probably damaging |
Het |
| Fchsd2 |
T |
G |
7: 100,826,429 (GRCm39) |
|
probably null |
Het |
| Flad1 |
A |
T |
3: 89,316,294 (GRCm39) |
D89E |
probably damaging |
Het |
| Fsd1 |
C |
A |
17: 56,303,499 (GRCm39) |
P457Q |
probably damaging |
Het |
| Gm21985 |
A |
G |
2: 112,187,929 (GRCm39) |
D1012G |
possibly damaging |
Het |
| Gon4l |
A |
G |
3: 88,764,517 (GRCm39) |
D366G |
probably null |
Het |
| Hadha |
A |
G |
5: 30,347,843 (GRCm39) |
|
probably benign |
Het |
| Kdr |
A |
G |
5: 76,122,513 (GRCm39) |
|
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,426,136 (GRCm39) |
K24R |
probably benign |
Het |
| Map3k21 |
A |
G |
8: 126,668,397 (GRCm39) |
D661G |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,310,435 (GRCm39) |
K204E |
possibly damaging |
Het |
| Nmral1 |
T |
A |
16: 4,534,346 (GRCm39) |
I32F |
probably benign |
Het |
| Nrros |
T |
C |
16: 31,963,492 (GRCm39) |
D175G |
possibly damaging |
Het |
| Or10ak8 |
G |
A |
4: 118,773,968 (GRCm39) |
T232I |
probably benign |
Het |
| Or12j5 |
T |
C |
7: 140,084,077 (GRCm39) |
I98M |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,587,143 (GRCm39) |
F4713L |
possibly damaging |
Het |
| Serpinb1b |
G |
A |
13: 33,275,301 (GRCm39) |
G142D |
possibly damaging |
Het |
| Slc10a1 |
A |
G |
12: 81,007,248 (GRCm39) |
S178P |
possibly damaging |
Het |
| Spint1 |
G |
A |
2: 119,068,698 (GRCm39) |
R144H |
probably benign |
Het |
| Sult6b1 |
C |
T |
17: 79,196,504 (GRCm39) |
G213R |
probably damaging |
Het |
| Themis3 |
G |
T |
17: 66,862,900 (GRCm39) |
H353N |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,289,525 (GRCm39) |
S619P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,645,134 (GRCm39) |
V11161E |
probably damaging |
Het |
| Usp13 |
G |
A |
3: 32,987,314 (GRCm39) |
V837I |
probably damaging |
Het |
| Usp25 |
T |
C |
16: 76,880,670 (GRCm39) |
V677A |
probably benign |
Het |
| Wdr62 |
A |
G |
7: 29,942,894 (GRCm39) |
V1001A |
possibly damaging |
Het |
| Whrn |
A |
T |
4: 63,336,822 (GRCm39) |
I580N |
possibly damaging |
Het |
| Wls |
T |
A |
3: 159,616,993 (GRCm39) |
V344D |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,385,222 (GRCm39) |
Y5070* |
probably null |
Het |
|
| Other mutations in Mical1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01455:Mical1
|
APN |
10 |
41,355,065 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01594:Mical1
|
APN |
10 |
41,356,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02321:Mical1
|
APN |
10 |
41,362,660 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02323:Mical1
|
APN |
10 |
41,362,660 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02324:Mical1
|
APN |
10 |
41,362,660 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02327:Mical1
|
APN |
10 |
41,362,660 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02416:Mical1
|
APN |
10 |
41,360,806 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02419:Mical1
|
APN |
10 |
41,358,273 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL03027:Mical1
|
APN |
10 |
41,355,501 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03087:Mical1
|
APN |
10 |
41,358,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03368:Mical1
|
APN |
10 |
41,355,625 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03387:Mical1
|
APN |
10 |
41,354,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Mical1
|
UTSW |
10 |
41,359,492 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0433:Mical1
|
UTSW |
10 |
41,355,486 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0617:Mical1
|
UTSW |
10 |
41,357,311 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0638:Mical1
|
UTSW |
10 |
41,358,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1535:Mical1
|
UTSW |
10 |
41,361,207 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1623:Mical1
|
UTSW |
10 |
41,357,389 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1712:Mical1
|
UTSW |
10 |
41,356,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1806:Mical1
|
UTSW |
10 |
41,354,210 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1835:Mical1
|
UTSW |
10 |
41,359,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1866:Mical1
|
UTSW |
10 |
41,361,466 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2134:Mical1
|
UTSW |
10 |
41,358,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2352:Mical1
|
UTSW |
10 |
41,358,229 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3740:Mical1
|
UTSW |
10 |
41,355,067 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4033:Mical1
|
UTSW |
10 |
41,357,172 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4093:Mical1
|
UTSW |
10 |
41,362,933 (GRCm39) |
unclassified |
probably benign |
|
|
R4184:Mical1
|
UTSW |
10 |
41,357,866 (GRCm39) |
unclassified |
probably benign |
|
|
R4194:Mical1
|
UTSW |
10 |
41,357,624 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4659:Mical1
|
UTSW |
10 |
41,362,932 (GRCm39) |
unclassified |
probably benign |
|
|
R5139:Mical1
|
UTSW |
10 |
41,354,411 (GRCm39) |
splice site |
probably null |
|
|
R5173:Mical1
|
UTSW |
10 |
41,360,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5340:Mical1
|
UTSW |
10 |
41,359,427 (GRCm39) |
splice site |
probably null |
|
|
R5501:Mical1
|
UTSW |
10 |
41,362,075 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5560:Mical1
|
UTSW |
10 |
41,354,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5726:Mical1
|
UTSW |
10 |
41,359,692 (GRCm39) |
unclassified |
probably benign |
|
|
R5864:Mical1
|
UTSW |
10 |
41,362,064 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5905:Mical1
|
UTSW |
10 |
41,362,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6028:Mical1
|
UTSW |
10 |
41,362,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6047:Mical1
|
UTSW |
10 |
41,357,703 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6074:Mical1
|
UTSW |
10 |
41,362,061 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6458:Mical1
|
UTSW |
10 |
41,360,731 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6879:Mical1
|
UTSW |
10 |
41,360,515 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6966:Mical1
|
UTSW |
10 |
41,355,750 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7049:Mical1
|
UTSW |
10 |
41,358,246 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7095:Mical1
|
UTSW |
10 |
41,355,206 (GRCm39) |
splice site |
probably null |
|
|
R7156:Mical1
|
UTSW |
10 |
41,361,253 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7312:Mical1
|
UTSW |
10 |
41,355,772 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8021:Mical1
|
UTSW |
10 |
41,358,720 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8056:Mical1
|
UTSW |
10 |
41,357,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8427:Mical1
|
UTSW |
10 |
41,354,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8883:Mical1
|
UTSW |
10 |
41,355,636 (GRCm39) |
missense |
|
|
|
R9021:Mical1
|
UTSW |
10 |
41,361,141 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9368:Mical1
|
UTSW |
10 |
41,357,302 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9526:Mical1
|
UTSW |
10 |
41,358,602 (GRCm39) |
missense |
probably benign |
|
|
R9651:Mical1
|
UTSW |
10 |
41,362,022 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0020:Mical1
|
UTSW |
10 |
41,354,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mical1
|
UTSW |
10 |
41,357,701 (GRCm39) |
missense |
probably null |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation