Incidental Mutation 'R1623:Mical1'
ID |
174800 |
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 |
039660-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R1623 (G1)
|
Quality Score |
147 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
41352310-41363028 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to G
at 41357389 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113783
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019967]
[ENSMUST00000099934]
[ENSMUST00000119962]
[ENSMUST00000126436]
[ENSMUST00000151486]
|
AlphaFold |
Q8VDP3 |
Predicted Effect |
probably null
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 null
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 null
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: ENSMUST00000123798
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125099
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125730
|
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 |
noncoding transcript
Transcript: ENSMUST00000134010
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138657
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130838
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126833
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136681
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151486
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 94.9%
- 20x: 87.6%
|
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd5 |
A |
T |
2: 22,984,356 (GRCm39) |
D294V |
probably damaging |
Het |
Actn2 |
A |
T |
13: 12,355,320 (GRCm39) |
I21N |
probably benign |
Het |
Adamts2 |
C |
A |
11: 50,558,942 (GRCm39) |
P219H |
possibly damaging |
Het |
Atg16l2 |
A |
G |
7: 100,939,113 (GRCm39) |
F584L |
probably benign |
Het |
Ccdc81 |
C |
T |
7: 89,535,390 (GRCm39) |
R282Q |
probably benign |
Het |
Ccn4 |
G |
T |
15: 66,763,448 (GRCm39) |
V12L |
possibly damaging |
Het |
Cd200r3 |
G |
A |
16: 44,771,811 (GRCm39) |
C25Y |
possibly damaging |
Het |
Cdkl4 |
C |
T |
17: 80,863,731 (GRCm39) |
|
probably null |
Het |
Chrne |
T |
C |
11: 70,509,254 (GRCm39) |
E109G |
possibly damaging |
Het |
Clmp |
A |
G |
9: 40,693,856 (GRCm39) |
T358A |
probably benign |
Het |
Cmtr1 |
G |
T |
17: 29,906,021 (GRCm39) |
|
probably null |
Het |
Col25a1 |
A |
G |
3: 130,343,699 (GRCm39) |
E389G |
probably damaging |
Het |
Ctc1 |
C |
T |
11: 68,911,968 (GRCm39) |
T49M |
probably damaging |
Het |
Cyth3 |
T |
A |
5: 143,687,127 (GRCm39) |
M120K |
probably damaging |
Het |
D430041D05Rik |
T |
A |
2: 103,983,308 (GRCm39) |
E1996V |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 65,928,463 (GRCm39) |
M2069V |
probably damaging |
Het |
Dsg1c |
T |
C |
18: 20,408,234 (GRCm39) |
Y428H |
probably damaging |
Het |
Exosc8 |
T |
A |
3: 54,641,752 (GRCm39) |
T7S |
probably damaging |
Het |
F5 |
A |
G |
1: 164,023,191 (GRCm39) |
Y1583C |
probably damaging |
Het |
Fam178b |
A |
G |
1: 36,683,405 (GRCm39) |
I105T |
probably damaging |
Het |
Fam181a |
T |
A |
12: 103,282,591 (GRCm39) |
Y165* |
probably null |
Het |
Fbn2 |
G |
T |
18: 58,181,620 (GRCm39) |
N1880K |
possibly damaging |
Het |
Gbgt1 |
A |
T |
2: 28,394,988 (GRCm39) |
M209L |
probably benign |
Het |
Gkn2 |
C |
A |
6: 87,355,152 (GRCm39) |
Y120* |
probably null |
Het |
Gm14295 |
T |
A |
2: 176,499,157 (GRCm39) |
D1E |
probably damaging |
Het |
Gpr141 |
A |
T |
13: 19,936,082 (GRCm39) |
|
probably null |
Het |
Gramd2b |
C |
A |
18: 56,565,423 (GRCm39) |
P26Q |
probably benign |
Het |
Greb1 |
A |
G |
12: 16,724,771 (GRCm39) |
I1801T |
probably damaging |
Het |
Gstm3 |
T |
A |
3: 107,875,151 (GRCm39) |
I64F |
possibly damaging |
Het |
Gtse1 |
A |
G |
15: 85,751,779 (GRCm39) |
Y324C |
probably benign |
Het |
Hal |
C |
G |
10: 93,352,159 (GRCm39) |
T650R |
probably benign |
Het |
Hdac7 |
G |
A |
15: 97,706,285 (GRCm39) |
Q293* |
probably null |
Het |
Hdlbp |
A |
T |
1: 93,351,591 (GRCm39) |
N437K |
probably damaging |
Het |
Hif1an |
A |
G |
19: 44,557,862 (GRCm39) |
D248G |
probably damaging |
Het |
Hivep3 |
T |
C |
4: 119,952,901 (GRCm39) |
S406P |
possibly damaging |
Het |
Hmcn2 |
A |
T |
2: 31,348,051 (GRCm39) |
D4899V |
possibly damaging |
Het |
Ikzf3 |
C |
T |
11: 98,381,157 (GRCm39) |
|
probably null |
Het |
Inka2 |
G |
A |
3: 105,624,136 (GRCm39) |
G151D |
probably damaging |
Het |
Itgb4 |
C |
A |
11: 115,882,142 (GRCm39) |
Y819* |
probably null |
Het |
Itpripl1 |
T |
C |
2: 126,983,555 (GRCm39) |
D189G |
possibly damaging |
Het |
Kmt2e |
A |
G |
5: 23,687,500 (GRCm39) |
Y450C |
probably damaging |
Het |
Mc4r |
A |
G |
18: 66,993,068 (GRCm39) |
L15P |
probably benign |
Het |
Mical3 |
C |
T |
6: 121,001,768 (GRCm39) |
V575M |
probably damaging |
Het |
Mki67 |
A |
T |
7: 135,310,547 (GRCm39) |
|
probably null |
Het |
Mocs2 |
G |
A |
13: 114,961,158 (GRCm39) |
E52K |
probably benign |
Het |
Myo7b |
T |
C |
18: 32,133,104 (GRCm39) |
N415S |
probably damaging |
Het |
Notch1 |
G |
A |
2: 26,368,624 (GRCm39) |
T555I |
possibly damaging |
Het |
Notch3 |
T |
C |
17: 32,358,165 (GRCm39) |
D1686G |
probably benign |
Het |
Oit3 |
A |
G |
10: 59,264,061 (GRCm39) |
F358L |
probably damaging |
Het |
Or10x1 |
A |
C |
1: 174,196,515 (GRCm39) |
I11L |
probably benign |
Het |
Or6k4 |
A |
T |
1: 173,964,883 (GRCm39) |
D191V |
probably damaging |
Het |
Orai1 |
T |
A |
5: 123,167,265 (GRCm39) |
I146N |
probably damaging |
Het |
Pck1 |
A |
G |
2: 172,996,511 (GRCm39) |
I142V |
probably benign |
Het |
Pdap1 |
C |
T |
5: 145,069,739 (GRCm39) |
V89M |
possibly damaging |
Het |
Phf11a |
T |
C |
14: 59,525,000 (GRCm39) |
D68G |
possibly damaging |
Het |
Pilrb2 |
T |
C |
5: 137,869,510 (GRCm39) |
N30S |
probably damaging |
Het |
Pkd1 |
G |
A |
17: 24,797,243 (GRCm39) |
V2551I |
probably damaging |
Het |
Pnpla7 |
T |
C |
2: 24,942,611 (GRCm39) |
V132A |
probably damaging |
Het |
Prr35 |
G |
A |
17: 26,166,508 (GRCm39) |
P343L |
probably benign |
Het |
Rad18 |
C |
T |
6: 112,605,480 (GRCm39) |
S398N |
probably damaging |
Het |
Rdh16f1 |
C |
A |
10: 127,626,722 (GRCm39) |
N258K |
probably benign |
Het |
Riox2 |
A |
G |
16: 59,303,405 (GRCm39) |
H240R |
probably damaging |
Het |
Ruvbl1 |
C |
T |
6: 88,462,752 (GRCm39) |
A292V |
probably damaging |
Het |
Ryr1 |
C |
T |
7: 28,794,915 (GRCm39) |
G1151S |
probably damaging |
Het |
Serpinb9b |
T |
C |
13: 33,213,548 (GRCm39) |
I35T |
possibly damaging |
Het |
Slc1a1 |
T |
A |
19: 28,882,122 (GRCm39) |
M328K |
probably benign |
Het |
Slc7a13 |
A |
T |
4: 19,824,031 (GRCm39) |
T267S |
possibly damaging |
Het |
Speer3 |
G |
T |
5: 13,846,335 (GRCm39) |
M218I |
probably benign |
Het |
Sptan1 |
A |
G |
2: 29,876,432 (GRCm39) |
I271V |
probably damaging |
Het |
Swap70 |
A |
G |
7: 109,863,255 (GRCm39) |
T195A |
probably benign |
Het |
Tgs1 |
T |
A |
4: 3,585,964 (GRCm39) |
N280K |
probably benign |
Het |
Tonsl |
A |
G |
15: 76,522,709 (GRCm39) |
C181R |
probably damaging |
Het |
Trdn |
A |
G |
10: 33,134,098 (GRCm39) |
K333R |
possibly damaging |
Het |
Trpc4 |
T |
A |
3: 54,206,600 (GRCm39) |
M600K |
probably damaging |
Het |
Ubr3 |
C |
T |
2: 69,808,067 (GRCm39) |
Q1183* |
probably null |
Het |
Ubxn4 |
T |
A |
1: 128,200,588 (GRCm39) |
L360I |
possibly damaging |
Het |
Ugt2b1 |
T |
A |
5: 87,074,267 (GRCm39) |
T31S |
probably benign |
Het |
Uspl1 |
T |
C |
5: 149,152,009 (GRCm39) |
S1056P |
probably damaging |
Het |
Vmn2r60 |
A |
T |
7: 41,785,279 (GRCm39) |
K164* |
probably null |
Het |
Vwce |
T |
A |
19: 10,624,108 (GRCm39) |
L333* |
probably null |
Het |
Wdr95 |
T |
A |
5: 149,497,581 (GRCm39) |
L253Q |
probably damaging |
Het |
Zfp113 |
T |
C |
5: 138,143,930 (GRCm39) |
M107V |
probably benign |
Het |
Zfp142 |
T |
C |
1: 74,610,934 (GRCm39) |
T851A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCCGCCGCATAGGACTTGTCAG -3'
(R):5'- TGCATCGAAGGCTGCCAAGAAG -3'
Sequencing Primer
(F):5'- CGCATAGGACTTGTCAGAGACTG -3'
(R):5'- AAGAAGCCTCGGGCTACTC -3'
|
Posted On |
2014-04-24 |