Incidental Mutation 'R5726:Mical1'
ID |
452498 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mical1
|
Ensembl Gene |
ENSMUSG00000019823 |
Gene Name |
microtubule associated monooxygenase, calponin and LIM domain containing 1 |
Synonyms |
Nical |
MMRRC Submission |
043344-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R5726 (G1)
|
Quality Score |
218 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
41352310-41363028 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 41359692 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115461
(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
|
SMART Domains |
Protein: ENSMUSP00000019967 Gene: ENSMUSG00000019823
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 benign
Transcript: ENSMUST00000099934
|
SMART Domains |
Protein: ENSMUSP00000097519 Gene: ENSMUSG00000019823
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
|
SMART Domains |
Protein: ENSMUSP00000113783 Gene: ENSMUSG00000019823
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 |
noncoding transcript
Transcript: ENSMUST00000134010
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141542
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126833
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147367
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138657
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125730
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130838
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132170
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143470
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136681
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126436
|
SMART Domains |
Protein: ENSMUSP00000114969 Gene: ENSMUSG00000019823
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 |
probably benign
Transcript: ENSMUST00000155411
|
SMART Domains |
Protein: ENSMUSP00000115461 Gene: ENSMUSG00000019822
Domain | Start | End | E-Value | Type |
SCOP:d2dnja_
|
9 |
81 |
2e-4 |
SMART |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
100% (72/72) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
T |
C |
7: 127,835,832 (GRCm39) |
K254E |
probably damaging |
Het |
Aak1 |
C |
T |
6: 86,902,106 (GRCm39) |
Q92* |
probably null |
Het |
Acss3 |
T |
C |
10: 106,959,183 (GRCm39) |
T88A |
possibly damaging |
Het |
Adcy4 |
A |
T |
14: 56,021,118 (GRCm39) |
S6R |
probably damaging |
Het |
Aldh1l2 |
T |
C |
10: 83,348,170 (GRCm39) |
E311G |
possibly damaging |
Het |
Arhgap25 |
C |
T |
6: 87,440,441 (GRCm39) |
S402N |
probably benign |
Het |
Btn1a1 |
T |
A |
13: 23,643,522 (GRCm39) |
D309V |
probably damaging |
Het |
Cdh23 |
C |
T |
10: 60,243,259 (GRCm39) |
V1037M |
probably damaging |
Het |
Clcn2 |
T |
C |
16: 20,529,285 (GRCm39) |
|
probably benign |
Het |
Cln3 |
T |
C |
7: 126,174,673 (GRCm39) |
T276A |
probably null |
Het |
CN725425 |
A |
G |
15: 91,144,706 (GRCm39) |
E523G |
possibly damaging |
Het |
Crppa |
T |
C |
12: 36,597,829 (GRCm39) |
V320A |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,793,188 (GRCm39) |
T308S |
probably damaging |
Het |
Dgkh |
G |
T |
14: 78,862,342 (GRCm39) |
F208L |
probably benign |
Het |
Eif2ak4 |
A |
G |
2: 118,273,613 (GRCm39) |
D846G |
probably damaging |
Het |
Fmo4 |
A |
G |
1: 162,635,828 (GRCm39) |
|
probably null |
Het |
Foxp4 |
A |
G |
17: 48,180,033 (GRCm39) |
Y623H |
unknown |
Het |
Fxr2 |
T |
C |
11: 69,524,172 (GRCm39) |
V10A |
probably benign |
Het |
Gm10271 |
T |
C |
10: 116,792,792 (GRCm39) |
|
probably null |
Het |
Gsk3b |
T |
C |
16: 38,028,498 (GRCm39) |
|
probably benign |
Het |
Ift43 |
T |
A |
12: 86,208,957 (GRCm39) |
D169E |
probably damaging |
Het |
Ift57 |
T |
A |
16: 49,519,861 (GRCm39) |
L54H |
probably damaging |
Het |
Ighv1-37 |
T |
C |
12: 114,860,294 (GRCm39) |
|
probably benign |
Het |
Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,339,491 (GRCm39) |
D1140G |
probably damaging |
Het |
Map1a |
G |
A |
2: 121,135,546 (GRCm39) |
A1883T |
probably damaging |
Het |
Map4k2 |
G |
T |
19: 6,401,362 (GRCm39) |
G611C |
probably damaging |
Het |
Myh14 |
A |
G |
7: 44,292,886 (GRCm39) |
|
probably null |
Het |
Myh8 |
T |
A |
11: 67,185,392 (GRCm39) |
V881D |
possibly damaging |
Het |
Myo1g |
G |
T |
11: 6,459,420 (GRCm39) |
Q817K |
probably benign |
Het |
Nin |
A |
C |
12: 70,124,953 (GRCm39) |
V123G |
probably damaging |
Het |
Nup160 |
A |
G |
2: 90,548,195 (GRCm39) |
D976G |
probably damaging |
Het |
Nup210l |
A |
T |
3: 90,036,514 (GRCm39) |
|
probably null |
Het |
Or5an1c |
A |
G |
19: 12,218,644 (GRCm39) |
I127T |
probably damaging |
Het |
Phf14 |
T |
C |
6: 11,933,537 (GRCm39) |
|
probably benign |
Het |
Podxl2 |
T |
C |
6: 88,825,721 (GRCm39) |
D400G |
probably damaging |
Het |
Pygl |
C |
T |
12: 70,237,916 (GRCm39) |
W707* |
probably null |
Het |
Rnf19b |
T |
C |
4: 128,965,685 (GRCm39) |
V261A |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,307,284 (GRCm39) |
Y648C |
probably damaging |
Het |
Scn5a |
C |
T |
9: 119,362,913 (GRCm39) |
R569H |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,742,626 (GRCm39) |
L761P |
probably damaging |
Het |
Shroom3 |
C |
T |
5: 93,090,864 (GRCm39) |
P1124S |
probably benign |
Het |
Sirt4 |
A |
G |
5: 115,617,705 (GRCm39) |
V317A |
probably benign |
Het |
Skic3 |
T |
C |
13: 76,266,466 (GRCm39) |
Y238H |
probably damaging |
Het |
Slc12a2 |
G |
T |
18: 58,029,426 (GRCm39) |
A271S |
probably benign |
Het |
Slc6a9 |
A |
G |
4: 117,721,210 (GRCm39) |
Y208C |
probably damaging |
Het |
Snap23 |
T |
A |
2: 120,414,752 (GRCm39) |
|
probably benign |
Het |
Sra1 |
C |
T |
18: 36,803,226 (GRCm39) |
|
probably benign |
Het |
Srbd1 |
C |
T |
17: 86,428,157 (GRCm39) |
D359N |
possibly damaging |
Het |
Srp19 |
A |
G |
18: 34,464,826 (GRCm39) |
Y22C |
probably damaging |
Het |
Sstr4 |
T |
C |
2: 148,238,003 (GRCm39) |
S205P |
probably damaging |
Het |
Sv2b |
T |
C |
7: 74,773,962 (GRCm39) |
D503G |
possibly damaging |
Het |
Tbc1d30 |
C |
T |
10: 121,103,479 (GRCm39) |
V518M |
probably damaging |
Het |
Tlr4 |
A |
G |
4: 66,758,652 (GRCm39) |
K482E |
probably benign |
Het |
Tpm1 |
G |
A |
9: 66,930,694 (GRCm39) |
L310F |
probably damaging |
Het |
Trpm6 |
A |
G |
19: 18,830,981 (GRCm39) |
Y1282C |
probably damaging |
Het |
Tsc22d1 |
T |
A |
14: 76,742,757 (GRCm39) |
L65* |
probably null |
Het |
Ttc39c |
C |
A |
18: 12,830,992 (GRCm39) |
A284D |
probably damaging |
Het |
Txndc16 |
G |
A |
14: 45,403,221 (GRCm39) |
H297Y |
probably benign |
Het |
Utrn |
A |
T |
10: 12,545,550 (GRCm39) |
D1698E |
probably benign |
Het |
Vmn1r232 |
C |
T |
17: 21,133,601 (GRCm39) |
R333H |
probably benign |
Het |
Vmn2r14 |
A |
T |
5: 109,365,486 (GRCm39) |
D529E |
possibly damaging |
Het |
Vmn2r70 |
C |
T |
7: 85,208,315 (GRCm39) |
V721I |
probably damaging |
Het |
Zbtb18 |
A |
G |
1: 177,276,119 (GRCm39) |
H484R |
probably damaging |
Het |
Zc3h13 |
T |
A |
14: 75,568,269 (GRCm39) |
S1187R |
possibly damaging |
Het |
Zfhx4 |
T |
A |
3: 5,468,381 (GRCm39) |
D2846E |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCATCACACCAGTGTTGTC -3'
(R):5'- CTGTGAAGATAACCTAAGCCCAG -3'
Sequencing Primer
(F):5'- ACACCAGTGTTGTCTGCACAG -3'
(R):5'- AGAGTGTATTCTCTATCGTCCCTGG -3'
|
Posted On |
2017-01-03 |