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 | |
Is this an essential gene? |
Probably non essential (E-score: 0.167)
|
Stock # | IGL01594
|
Quality Score | |
Status |
|
Chromosome | 10 |
Chromosomal Location | 41476314-41487032 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
T to G
at 41480329 bp
|
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]
|
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: ENSMUST00000134010
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136681
|
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: 8,946,071 |
|
probably null |
Het |
Acss1 |
A |
T |
2: 150,621,530 |
V618E |
probably damaging |
Het |
Adgrg6 |
T |
C |
10: 14,434,340 |
N774D |
probably damaging |
Het |
Atp9a |
A |
G |
2: 168,691,012 |
V134A |
probably damaging |
Het |
Csmd3 |
T |
A |
15: 47,629,239 |
T3169S |
probably benign |
Het |
D030068K23Rik |
T |
A |
8: 109,251,377 |
Q52L |
unknown |
Het |
Dnah5 |
T |
C |
15: 28,311,334 |
S1820P |
possibly damaging |
Het |
Fem1c |
A |
C |
18: 46,506,276 |
S220A |
probably benign |
Het |
Gm10305 |
G |
A |
4: 99,273,177 |
D108N |
unknown |
Het |
Gtdc1 |
A |
G |
2: 44,591,879 |
|
probably null |
Het |
Il2ra |
T |
C |
2: 11,680,396 |
V181A |
possibly damaging |
Het |
Lrrn1 |
T |
C |
6: 107,567,493 |
I84T |
probably damaging |
Het |
Map3k1 |
T |
A |
13: 111,758,189 |
|
probably null |
Het |
Mpzl1 |
T |
C |
1: 165,593,592 |
D266G |
probably damaging |
Het |
Olfr544 |
C |
A |
7: 102,485,047 |
M24I |
probably benign |
Het |
Pabpc4l |
A |
T |
3: 46,447,146 |
V21D |
probably damaging |
Het |
Prdm10 |
T |
C |
9: 31,346,853 |
C525R |
probably damaging |
Het |
Ptprj |
C |
A |
2: 90,440,795 |
|
probably benign |
Het |
Rgs3 |
T |
C |
4: 62,619,744 |
F4S |
probably damaging |
Het |
Ryr3 |
G |
A |
2: 112,772,728 |
T2457I |
probably damaging |
Het |
Scn3a |
A |
G |
2: 65,461,431 |
I1657T |
probably damaging |
Het |
Sema6a |
A |
G |
18: 47,248,817 |
S888P |
probably damaging |
Het |
Slc37a1 |
T |
A |
17: 31,319,148 |
Y148* |
probably null |
Het |
Tex10 |
T |
C |
4: 48,469,906 |
N53S |
possibly damaging |
Het |
Tyr |
A |
T |
7: 87,483,814 |
|
probably benign |
Het |
Vmn2r100 |
A |
G |
17: 19,531,233 |
S513G |
possibly damaging |
Het |
|
Other mutations in Mical1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01455:Mical1
|
APN |
10 |
41479069 |
critical splice donor site |
probably null |
|
IGL02065:Mical1
|
APN |
10 |
41484411 |
missense |
possibly damaging |
0.55 |
IGL02321:Mical1
|
APN |
10 |
41486664 |
missense |
possibly damaging |
0.52 |
IGL02323:Mical1
|
APN |
10 |
41486664 |
missense |
possibly damaging |
0.52 |
IGL02324:Mical1
|
APN |
10 |
41486664 |
missense |
possibly damaging |
0.52 |
IGL02327:Mical1
|
APN |
10 |
41486664 |
missense |
possibly damaging |
0.52 |
IGL02416:Mical1
|
APN |
10 |
41484810 |
critical splice donor site |
probably null |
|
IGL02419:Mical1
|
APN |
10 |
41482277 |
missense |
possibly damaging |
0.73 |
IGL03027:Mical1
|
APN |
10 |
41479505 |
unclassified |
probably benign |
|
IGL03087:Mical1
|
APN |
10 |
41482690 |
missense |
probably damaging |
1.00 |
IGL03368:Mical1
|
APN |
10 |
41479629 |
missense |
probably damaging |
0.96 |
IGL03387:Mical1
|
APN |
10 |
41478199 |
missense |
probably damaging |
1.00 |
PIT1430001:Mical1
|
UTSW |
10 |
41483496 |
missense |
possibly damaging |
0.55 |
R0433:Mical1
|
UTSW |
10 |
41479490 |
missense |
probably benign |
0.15 |
R0617:Mical1
|
UTSW |
10 |
41481315 |
missense |
probably damaging |
0.97 |
R0638:Mical1
|
UTSW |
10 |
41482239 |
missense |
probably benign |
0.01 |
R1535:Mical1
|
UTSW |
10 |
41485211 |
missense |
possibly damaging |
0.55 |
R1623:Mical1
|
UTSW |
10 |
41481393 |
critical splice donor site |
probably null |
|
R1712:Mical1
|
UTSW |
10 |
41480363 |
missense |
probably damaging |
1.00 |
R1806:Mical1
|
UTSW |
10 |
41478214 |
missense |
probably damaging |
0.96 |
R1835:Mical1
|
UTSW |
10 |
41483535 |
missense |
probably benign |
0.00 |
R1866:Mical1
|
UTSW |
10 |
41485470 |
missense |
probably benign |
0.39 |
R2134:Mical1
|
UTSW |
10 |
41482712 |
missense |
probably damaging |
1.00 |
R2352:Mical1
|
UTSW |
10 |
41482233 |
missense |
probably benign |
0.21 |
R3740:Mical1
|
UTSW |
10 |
41479071 |
missense |
probably benign |
0.01 |
R4033:Mical1
|
UTSW |
10 |
41481176 |
missense |
probably benign |
0.40 |
R4093:Mical1
|
UTSW |
10 |
41486937 |
unclassified |
probably benign |
|
R4184:Mical1
|
UTSW |
10 |
41481870 |
unclassified |
probably benign |
|
R4194:Mical1
|
UTSW |
10 |
41481628 |
missense |
possibly damaging |
0.88 |
R4659:Mical1
|
UTSW |
10 |
41486936 |
unclassified |
probably benign |
|
R5139:Mical1
|
UTSW |
10 |
41478415 |
splice site |
probably null |
|
R5173:Mical1
|
UTSW |
10 |
41484989 |
missense |
probably damaging |
1.00 |
R5340:Mical1
|
UTSW |
10 |
41483431 |
splice site |
probably null |
|
R5501:Mical1
|
UTSW |
10 |
41486079 |
missense |
probably benign |
0.01 |
R5560:Mical1
|
UTSW |
10 |
41478965 |
missense |
probably damaging |
1.00 |
R5726:Mical1
|
UTSW |
10 |
41483696 |
unclassified |
probably benign |
|
R5864:Mical1
|
UTSW |
10 |
41486068 |
missense |
possibly damaging |
0.88 |
R5905:Mical1
|
UTSW |
10 |
41486877 |
missense |
probably benign |
0.00 |
R6028:Mical1
|
UTSW |
10 |
41486877 |
missense |
probably benign |
0.00 |
R6047:Mical1
|
UTSW |
10 |
41481707 |
critical splice donor site |
probably null |
|
R6074:Mical1
|
UTSW |
10 |
41486065 |
missense |
probably benign |
0.27 |
R6458:Mical1
|
UTSW |
10 |
41484735 |
missense |
probably benign |
0.44 |
R6879:Mical1
|
UTSW |
10 |
41484519 |
missense |
probably damaging |
0.99 |
R6966:Mical1
|
UTSW |
10 |
41479754 |
missense |
probably damaging |
0.98 |
R7049:Mical1
|
UTSW |
10 |
41482250 |
missense |
possibly damaging |
0.63 |
R7095:Mical1
|
UTSW |
10 |
41479210 |
splice site |
probably null |
|
R7156:Mical1
|
UTSW |
10 |
41485257 |
critical splice donor site |
probably null |
|
R7312:Mical1
|
UTSW |
10 |
41479776 |
critical splice donor site |
probably null |
|
R8021:Mical1
|
UTSW |
10 |
41482724 |
missense |
probably damaging |
0.97 |
R8056:Mical1
|
UTSW |
10 |
41481172 |
missense |
probably damaging |
1.00 |
R8427:Mical1
|
UTSW |
10 |
41478595 |
missense |
probably damaging |
1.00 |
X0020:Mical1
|
UTSW |
10 |
41478996 |
missense |
probably damaging |
1.00 |
Z1177:Mical1
|
UTSW |
10 |
41481705 |
missense |
probably null |
1.00 |
|
Posted On | 2013-12-09 |