Incidental Mutation 'IGL01594:Mical1'
| ID |
91674 |
| 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 # |
IGL01594
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
41352310-41363028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 41356325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 293
(Y293D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019967]
[ENSMUST00000099934]
[ENSMUST00000119962]
[ENSMUST00000126436]
[ENSMUST00000151486]
|
| AlphaFold |
Q8VDP3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019967
AA Change: Y293D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019967
Gene: ENSMUSG00000019823
AA Change: Y293D
| 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 |
probably damaging
Transcript: ENSMUST00000099934
AA Change: Y220D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097519
Gene: ENSMUSG00000019823
AA Change: Y220D
| 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 damaging
Transcript: ENSMUST00000119962
AA Change: Y293D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113783
Gene: ENSMUSG00000019823
AA Change: Y293D
| 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: ENSMUST00000125099
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125730
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126436
AA Change: Y293D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114969
Gene: ENSMUSG00000019823
AA Change: Y293D
| 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: ENSMUST00000130838
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134010
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151486
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,996,071 (GRCm39) |
|
probably null |
Het |
| Acss1 |
A |
T |
2: 150,463,450 (GRCm39) |
V618E |
probably damaging |
Het |
| Adgrg6 |
T |
C |
10: 14,310,084 (GRCm39) |
N774D |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,532,932 (GRCm39) |
V134A |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 47,492,635 (GRCm39) |
T3169S |
probably benign |
Het |
| D030068K23Rik |
T |
A |
8: 109,978,009 (GRCm39) |
Q52L |
unknown |
Het |
| Dnah5 |
T |
C |
15: 28,311,480 (GRCm39) |
S1820P |
possibly damaging |
Het |
| Fem1c |
A |
C |
18: 46,639,343 (GRCm39) |
S220A |
probably benign |
Het |
| Gm10305 |
G |
A |
4: 99,161,414 (GRCm39) |
D108N |
unknown |
Het |
| Gtdc1 |
A |
G |
2: 44,481,891 (GRCm39) |
|
probably null |
Het |
| Il2ra |
T |
C |
2: 11,685,207 (GRCm39) |
V181A |
possibly damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,544,454 (GRCm39) |
I84T |
probably damaging |
Het |
| Map3k1 |
T |
A |
13: 111,894,723 (GRCm39) |
|
probably null |
Het |
| Mpzl1 |
T |
C |
1: 165,421,161 (GRCm39) |
D266G |
probably damaging |
Het |
| Or55b4 |
C |
A |
7: 102,134,254 (GRCm39) |
M24I |
probably benign |
Het |
| Pabpc4l |
A |
T |
3: 46,401,581 (GRCm39) |
V21D |
probably damaging |
Het |
| Prdm10 |
T |
C |
9: 31,258,149 (GRCm39) |
C525R |
probably damaging |
Het |
| Ptprj |
C |
A |
2: 90,271,139 (GRCm39) |
|
probably benign |
Het |
| Rgs3 |
T |
C |
4: 62,537,981 (GRCm39) |
F4S |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,603,073 (GRCm39) |
T2457I |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,291,775 (GRCm39) |
I1657T |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,381,884 (GRCm39) |
S888P |
probably damaging |
Het |
| Slc37a1 |
T |
A |
17: 31,538,122 (GRCm39) |
Y148* |
probably null |
Het |
| Tex10 |
T |
C |
4: 48,469,906 (GRCm39) |
N53S |
possibly damaging |
Het |
| Tyr |
A |
T |
7: 87,133,022 (GRCm39) |
|
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,751,495 (GRCm39) |
S513G |
possibly damaging |
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 |
|
|
IGL02065:Mical1
|
APN |
10 |
41,360,407 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
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 |
2013-12-09 |
Incidental Mutation