Incidental Mutation 'R5560:Mical1'
| ID |
501194 |
| 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 |
043117-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R5560 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
41352310-41363028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41354961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 157
(I157F)
|
| 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: I157F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019967
Gene: ENSMUSG00000019823
AA Change: I157F
| 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 damaging
Transcript: ENSMUST00000119962
AA Change: I157F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113783
Gene: ENSMUSG00000019823
AA Change: I157F
| 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: ENSMUST00000125730
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126436
AA Change: I157F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114969
Gene: ENSMUSG00000019823
AA Change: I157F
| 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 |
probably benign
Transcript: ENSMUST00000151486
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136681
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.8%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adipor1 |
T |
C |
1: 134,353,778 (GRCm39) |
W188R |
possibly damaging |
Het |
| Agrn |
T |
C |
4: 156,262,954 (GRCm39) |
D441G |
probably damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,520,024 (GRCm39) |
S570P |
probably benign |
Het |
| Ano9 |
C |
G |
7: 140,690,395 (GRCm39) |
G80R |
probably damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,541,744 (GRCm39) |
V250E |
probably damaging |
Het |
| Atp2b2 |
T |
C |
6: 113,751,319 (GRCm39) |
D583G |
possibly damaging |
Het |
| Bcar3 |
T |
A |
3: 122,220,224 (GRCm39) |
D40E |
possibly damaging |
Het |
| Capn12 |
A |
G |
7: 28,582,285 (GRCm39) |
D133G |
probably benign |
Het |
| Ccna1 |
A |
T |
3: 54,955,990 (GRCm39) |
Y269N |
probably damaging |
Het |
| Cct6b |
A |
T |
11: 82,632,239 (GRCm39) |
Y250N |
probably damaging |
Het |
| Cep112 |
A |
C |
11: 108,328,061 (GRCm39) |
K98Q |
probably damaging |
Het |
| Chst13 |
T |
C |
6: 90,295,251 (GRCm39) |
D54G |
probably damaging |
Het |
| Clstn2 |
G |
T |
9: 97,351,872 (GRCm39) |
H518N |
possibly damaging |
Het |
| Cntnap1 |
T |
A |
11: 101,073,261 (GRCm39) |
L581M |
probably damaging |
Het |
| Cog3 |
T |
A |
14: 75,966,833 (GRCm39) |
M446L |
probably damaging |
Het |
| Dennd2c |
T |
A |
3: 103,068,871 (GRCm39) |
I756K |
probably damaging |
Het |
| Dennd3 |
T |
G |
15: 73,404,744 (GRCm39) |
L273R |
probably damaging |
Het |
| Dhx34 |
C |
A |
7: 15,952,466 (GRCm39) |
R53L |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,772,566 (GRCm39) |
T3722I |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dusp6 |
A |
G |
10: 99,102,103 (GRCm39) |
Y217C |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,181,733 (GRCm39) |
S769G |
probably damaging |
Het |
| Dyrk1b |
G |
A |
7: 27,883,678 (GRCm39) |
R178Q |
possibly damaging |
Het |
| Eif4g1 |
T |
A |
16: 20,505,645 (GRCm39) |
C1009S |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,243,697 (GRCm39) |
T57S |
probably damaging |
Het |
| Gask1a |
T |
C |
9: 121,807,289 (GRCm39) |
F478L |
possibly damaging |
Het |
| Gjc2 |
A |
G |
11: 59,068,185 (GRCm39) |
V99A |
possibly damaging |
Het |
| Gm9955 |
A |
T |
18: 24,842,149 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,831,101 (GRCm39) |
I734V |
possibly damaging |
Het |
| H1f2 |
A |
G |
13: 23,923,390 (GRCm39) |
S187G |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,358,401 (GRCm39) |
H2494L |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hmgcs1 |
A |
G |
13: 120,161,351 (GRCm39) |
|
probably null |
Het |
| Invs |
A |
T |
4: 48,416,084 (GRCm39) |
T655S |
probably benign |
Het |
| Ipo9 |
G |
A |
1: 135,329,983 (GRCm39) |
L486F |
probably damaging |
Het |
| Katnip |
T |
C |
7: 125,453,733 (GRCm39) |
V1150A |
probably benign |
Het |
| Kcnj6 |
A |
T |
16: 94,633,824 (GRCm39) |
L96M |
probably benign |
Het |
| Lfng |
A |
G |
5: 140,600,022 (GRCm39) |
D354G |
possibly damaging |
Het |
| Lgsn |
T |
C |
1: 31,235,953 (GRCm39) |
L139P |
probably damaging |
Het |
| Madd |
C |
A |
2: 90,993,890 (GRCm39) |
V923L |
probably damaging |
Het |
| Mis18bp1 |
T |
C |
12: 65,199,590 (GRCm39) |
N154S |
possibly damaging |
Het |
| Mrps14 |
A |
G |
1: 160,023,105 (GRCm39) |
K6R |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,838,032 (GRCm39) |
C421S |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 113,016,161 (GRCm39) |
I696T |
probably damaging |
Het |
| Naf1 |
T |
C |
8: 67,336,197 (GRCm39) |
Y375H |
probably damaging |
Het |
| Nsf |
T |
A |
11: 103,754,081 (GRCm39) |
E485V |
possibly damaging |
Het |
| Nup188 |
A |
G |
2: 30,199,897 (GRCm39) |
D307G |
probably damaging |
Het |
| Ocel1 |
C |
A |
8: 71,825,122 (GRCm39) |
P108T |
probably damaging |
Het |
| Oip5 |
A |
G |
2: 119,443,540 (GRCm39) |
S177P |
probably damaging |
Het |
| Omg |
A |
G |
11: 79,392,584 (GRCm39) |
W425R |
possibly damaging |
Het |
| Or1ad8 |
A |
C |
11: 50,898,350 (GRCm39) |
I184L |
possibly damaging |
Het |
| Or1l4 |
A |
G |
2: 37,091,942 (GRCm39) |
I230V |
probably benign |
Het |
| Or5an10 |
G |
A |
19: 12,276,008 (GRCm39) |
Q163* |
probably null |
Het |
| Or8g26 |
A |
C |
9: 39,095,480 (GRCm39) |
E2A |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,292,566 (GRCm39) |
Y1339C |
probably damaging |
Het |
| Polr3e |
A |
G |
7: 120,522,172 (GRCm39) |
D6G |
possibly damaging |
Het |
| Pou4f3 |
C |
A |
18: 42,528,480 (GRCm39) |
P141Q |
probably benign |
Het |
| Rcsd1 |
T |
A |
1: 165,483,070 (GRCm39) |
N337I |
possibly damaging |
Het |
| Rhoj |
C |
T |
12: 75,438,486 (GRCm39) |
P91S |
probably damaging |
Het |
| Rnf10 |
A |
G |
5: 115,388,057 (GRCm39) |
F367S |
probably damaging |
Het |
| Rnft1 |
A |
T |
11: 86,384,022 (GRCm39) |
R307S |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,585,222 (GRCm39) |
F2788Y |
probably damaging |
Het |
| Scgb1c1 |
A |
G |
7: 140,426,137 (GRCm39) |
K78E |
possibly damaging |
Het |
| Scn5a |
G |
T |
9: 119,389,352 (GRCm39) |
A123E |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,378,907 (GRCm39) |
Y623* |
probably null |
Het |
| Slc49a3 |
A |
T |
5: 108,596,729 (GRCm39) |
M1K |
probably null |
Het |
| Spmap2l |
A |
G |
5: 77,164,333 (GRCm39) |
D112G |
possibly damaging |
Het |
| Tbl2 |
C |
T |
5: 135,186,445 (GRCm39) |
Q216* |
probably null |
Het |
| Tnc |
A |
G |
4: 63,926,946 (GRCm39) |
I860T |
probably damaging |
Het |
| Trafd1 |
T |
C |
5: 121,511,366 (GRCm39) |
K484R |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,219,635 (GRCm39) |
V2124A |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 44,959,756 (GRCm39) |
W713R |
probably damaging |
Het |
| Uap1l1 |
T |
C |
2: 25,252,688 (GRCm39) |
T451A |
probably benign |
Het |
| Uba6 |
A |
T |
5: 86,279,119 (GRCm39) |
C668S |
probably damaging |
Het |
| Ubxn11 |
T |
C |
4: 133,853,935 (GRCm39) |
F441S |
probably damaging |
Het |
| Vmn1r22 |
C |
T |
6: 57,877,723 (GRCm39) |
V85M |
probably damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,150 (GRCm39) |
I90L |
probably damaging |
Het |
| Zfp330 |
T |
C |
8: 83,491,585 (GRCm39) |
E196G |
probably benign |
Het |
| Zfp746 |
A |
G |
6: 48,059,108 (GRCm39) |
V167A |
possibly damaging |
Het |
| Zfp994 |
T |
C |
17: 22,420,694 (GRCm39) |
E85G |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCTGTAAAACGGACAGTGG -3'
(R):5'- CACTGTCAGGAAGGAGTCAG -3'
Sequencing Primer
(F):5'- ACGGACAGTGGTTTTTCTTATCCAAG -3'
(R):5'- CTGTCAGGAAGGAGTCAGCTGAC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation