Incidental Mutation 'R9021:Mical1'
| ID |
686222 |
| 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 |
068851-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R9021 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
41352310-41363028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41361141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 808
(D808G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019965]
[ENSMUST00000019967]
[ENSMUST00000099934]
[ENSMUST00000119962]
[ENSMUST00000126436]
[ENSMUST00000155411]
|
| AlphaFold |
Q8VDP3 |
| PDB Structure |
STRUCTURE OF N-TERMINAL FAD BINDING MOTIF OF MOUSE MICAL [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE NATIVE MONOOXYGENASE DOMAIN OF MICAL AT 1.45 A RESOLUTION [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE NADPH-TREATED MONOOXYGENASE DOMAIN OF MICAL [X-RAY DIFFRACTION]
|
| 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
AA Change: D808G
PolyPhen 2
Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000019967
Gene: ENSMUSG00000019823
AA Change: D808G
| 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 |
possibly damaging
Transcript: ENSMUST00000099934
AA Change: D735G
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097519
Gene: ENSMUSG00000019823
AA Change: D735G
| 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 |
possibly damaging
Transcript: ENSMUST00000119962
AA Change: D808G
PolyPhen 2
Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113783
Gene: ENSMUSG00000019823
AA Change: D808G
| 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 |
probably benign
Transcript: ENSMUST00000126436
AA Change: D808G
PolyPhen 2
Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114969
Gene: ENSMUSG00000019823
AA Change: D808G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (64/65) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
A |
G |
9: 104,003,864 (GRCm39) |
D770G |
possibly damaging |
Het |
| Amph |
G |
A |
13: 19,284,071 (GRCm39) |
G200D |
probably benign |
Het |
| Asap2 |
T |
A |
12: 21,253,999 (GRCm39) |
L170H |
possibly damaging |
Het |
| Asap3 |
T |
C |
4: 135,966,299 (GRCm39) |
|
probably null |
Het |
| Atxn2l |
A |
T |
7: 126,094,712 (GRCm39) |
M595K |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,052,493 (GRCm39) |
D3064E |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,445,679 (GRCm39) |
Y522* |
probably null |
Het |
| Ceacam5 |
A |
T |
7: 17,448,877 (GRCm39) |
Y81F |
possibly damaging |
Het |
| Chd2 |
A |
T |
7: 73,091,393 (GRCm39) |
M1616K |
probably benign |
Het |
| Clint1 |
T |
A |
11: 45,797,042 (GRCm39) |
S374R |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,586,745 (GRCm39) |
F1759I |
possibly damaging |
Het |
| Crocc |
T |
A |
4: 140,749,674 (GRCm39) |
I1487F |
probably benign |
Het |
| Dll4 |
TC |
T |
2: 119,163,054 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
C |
9: 86,402,490 (GRCm39) |
I1230T |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,380,808 (GRCm39) |
I2518L |
possibly damaging |
Het |
| Eps8l2 |
G |
T |
7: 140,936,117 (GRCm39) |
V224L |
possibly damaging |
Het |
| Etv1 |
T |
C |
12: 38,830,971 (GRCm39) |
V13A |
probably benign |
Het |
| Fam78a |
T |
C |
2: 31,959,313 (GRCm39) |
M266V |
probably benign |
Het |
| Fam81a |
A |
G |
9: 70,017,538 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
T |
C |
4: 141,709,620 (GRCm39) |
I245V |
probably damaging |
Het |
| Flot2 |
T |
C |
11: 77,949,805 (GRCm39) |
V378A |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,888,609 (GRCm39) |
S2718R |
probably damaging |
Het |
| Gata3os |
T |
A |
2: 9,887,345 (GRCm39) |
|
probably benign |
Het |
| Gm14305 |
A |
G |
2: 176,413,167 (GRCm39) |
K353R |
possibly damaging |
Het |
| Inppl1 |
A |
C |
7: 101,480,915 (GRCm39) |
V315G |
probably damaging |
Het |
| Kbtbd6 |
A |
T |
14: 79,690,822 (GRCm39) |
I506F |
probably damaging |
Het |
| Klf6 |
G |
C |
13: 5,915,160 (GRCm39) |
G200R |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,518,930 (GRCm39) |
I45T |
probably benign |
Het |
| Lrriq4 |
T |
G |
3: 30,704,401 (GRCm39) |
V143G |
probably benign |
Het |
| Map2k2 |
G |
T |
10: 80,955,159 (GRCm39) |
G217C |
probably damaging |
Het |
| Mcm10 |
T |
C |
2: 4,997,782 (GRCm39) |
N813S |
probably benign |
Het |
| Mfng |
T |
A |
15: 78,657,348 (GRCm39) |
N42I |
probably benign |
Het |
| Mmp14 |
T |
C |
14: 54,673,632 (GRCm39) |
F99L |
probably benign |
Het |
| Mroh8 |
A |
T |
2: 157,064,787 (GRCm39) |
V763E |
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,551,752 (GRCm39) |
P193T |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,821,142 (GRCm39) |
D447G |
possibly damaging |
Het |
| Myoz2 |
T |
A |
3: 122,807,284 (GRCm39) |
|
probably benign |
Het |
| Narf |
C |
A |
11: 121,136,209 (GRCm39) |
P195Q |
probably damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,818,745 (GRCm39) |
F496I |
probably damaging |
Het |
| Nudt13 |
A |
G |
14: 20,360,772 (GRCm39) |
Y225C |
probably damaging |
Het |
| Or10ab5 |
A |
T |
7: 108,245,428 (GRCm39) |
Y118* |
probably null |
Het |
| Or11h4 |
T |
G |
14: 50,974,554 (GRCm39) |
I22L |
probably benign |
Het |
| Or2i1 |
G |
T |
17: 37,508,380 (GRCm39) |
R85S |
possibly damaging |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Osbpl10 |
C |
T |
9: 114,807,939 (GRCm39) |
A65V |
unknown |
Het |
| Pdcd2l |
A |
G |
7: 33,885,760 (GRCm39) |
L308P |
probably damaging |
Het |
| Pitx2 |
T |
A |
3: 129,008,432 (GRCm39) |
|
probably null |
Het |
| Pms2 |
T |
A |
5: 143,862,744 (GRCm39) |
F617Y |
probably damaging |
Het |
| Poc1b |
A |
G |
10: 98,980,183 (GRCm39) |
N180S |
possibly damaging |
Het |
| Poln |
T |
A |
5: 34,286,485 (GRCm39) |
M228L |
probably benign |
Het |
| Prex1 |
C |
A |
2: 166,432,429 (GRCm39) |
V707F |
possibly damaging |
Het |
| Rasal2 |
A |
T |
1: 157,058,514 (GRCm39) |
V12D |
unknown |
Het |
| Ripk1 |
A |
G |
13: 34,205,373 (GRCm39) |
E284G |
probably benign |
Het |
| Rpa2 |
T |
C |
4: 132,499,251 (GRCm39) |
W107R |
probably damaging |
Het |
| Selp |
A |
G |
1: 163,954,177 (GRCm39) |
Y159C |
probably damaging |
Het |
| Serpina1a |
A |
T |
12: 103,824,293 (GRCm39) |
W30R |
probably benign |
Het |
| Skic2 |
A |
G |
17: 35,065,579 (GRCm39) |
V325A |
probably damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,371,396 (GRCm39) |
R294G |
probably benign |
Het |
| Supt5 |
A |
T |
7: 28,016,671 (GRCm39) |
I737N |
probably damaging |
Het |
| Thap11 |
T |
C |
8: 106,582,660 (GRCm39) |
V223A |
probably damaging |
Het |
| Trabd |
T |
A |
15: 88,968,913 (GRCm39) |
S144T |
possibly damaging |
Het |
| Trim24 |
T |
A |
6: 37,933,949 (GRCm39) |
S701T |
probably damaging |
Het |
| Trim52 |
C |
T |
14: 106,344,986 (GRCm39) |
P215S |
possibly damaging |
Het |
| Vmn1r172 |
G |
T |
7: 23,359,749 (GRCm39) |
L211F |
probably damaging |
Het |
| Vmn2r86 |
A |
C |
10: 130,282,934 (GRCm39) |
Y561D |
probably damaging |
Het |
| Zfp384 |
C |
A |
6: 125,013,336 (GRCm39) |
A468E |
|
Het |
| Zfp658 |
A |
G |
7: 43,223,381 (GRCm39) |
H552R |
possibly damaging |
Het |
| Zranb2 |
T |
C |
3: 157,250,720 (GRCm39) |
V297A |
unknown |
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 |
|
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 |
|
|
|
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'- TACTAGGTGGGGTCCATGAC -3'
(R):5'- ATTTCCCAGAATCCCTGTGGC -3'
Sequencing Primer
(F):5'- CATATGGTGGGCTTTCCA -3'
(R):5'- CCCTGTGGCAAAAATTCTAGTGC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation