Incidental Mutation 'R8427:Mical1'
| ID |
653535 |
| 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 |
067821-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R8427 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
41352310-41363028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 41354591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 142
(K142N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019967]
[ENSMUST00000099934]
[ENSMUST00000119962]
[ENSMUST00000126436]
[ENSMUST00000151486]
|
| 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 damaging
Transcript: ENSMUST00000019967
AA Change: K142N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019967
Gene: ENSMUSG00000019823
AA Change: K142N
| 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: K142N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113783
Gene: ENSMUSG00000019823
AA Change: K142N
| 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 damaging
Transcript: ENSMUST00000126436
AA Change: K142N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114969
Gene: ENSMUSG00000019823
AA Change: K142N
| 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: ENSMUST00000151486
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
G |
T |
12: 72,950,060 (GRCm39) |
S271R |
possibly damaging |
Het |
| Adrb2 |
A |
G |
18: 62,312,345 (GRCm39) |
V160A |
possibly damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,167,820 (GRCm39) |
D113G |
possibly damaging |
Het |
| B4galt7 |
T |
A |
13: 55,757,138 (GRCm39) |
V312D |
possibly damaging |
Het |
| Bccip |
A |
G |
7: 133,311,220 (GRCm39) |
D45G |
probably benign |
Het |
| Bcl2l2 |
A |
G |
14: 55,122,860 (GRCm39) |
Y151C |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,604,790 (GRCm39) |
E16G |
unknown |
Het |
| Cdr2l |
C |
A |
11: 115,284,865 (GRCm39) |
D400E |
probably damaging |
Het |
| Celsr2 |
A |
C |
3: 108,299,949 (GRCm39) |
*2920E |
probably null |
Het |
| Cib1 |
A |
G |
7: 79,877,749 (GRCm39) |
F183L |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,460,952 (GRCm39) |
Y1716H |
probably benign |
Het |
| Copb1 |
A |
G |
7: 113,825,989 (GRCm39) |
V665A |
probably benign |
Het |
| Crmp1 |
C |
T |
5: 37,448,539 (GRCm39) |
T683I |
probably damaging |
Het |
| Cubn |
G |
C |
2: 13,433,567 (GRCm39) |
F1114L |
probably benign |
Het |
| Dab2 |
A |
T |
15: 6,458,840 (GRCm39) |
R251* |
probably null |
Het |
| Ddx28 |
A |
G |
8: 106,736,912 (GRCm39) |
V382A |
probably benign |
Het |
| Eml1 |
C |
A |
12: 108,496,580 (GRCm39) |
T612K |
probably damaging |
Het |
| Hoxb3 |
CGGCGGTGGCGG |
CGGCGGTGGCGGTGGCGG |
11: 96,236,415 (GRCm39) |
|
probably benign |
Het |
| Hoxb3 |
TGGCGG |
TGGCGGAGGCGG |
11: 96,236,421 (GRCm39) |
|
probably benign |
Het |
| Iapp |
T |
A |
6: 142,244,612 (GRCm39) |
I13N |
probably damaging |
Het |
| Ifit1bl1 |
A |
T |
19: 34,576,666 (GRCm39) |
|
probably null |
Het |
| Itgb4 |
T |
A |
11: 115,882,544 (GRCm39) |
|
probably null |
Het |
| Kcnh3 |
T |
C |
15: 99,124,934 (GRCm39) |
V128A |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,756,720 (GRCm39) |
F1176L |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,220,462 (GRCm39) |
T1031A |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,281,641 (GRCm39) |
D3910G |
probably damaging |
Het |
| Man1a2 |
A |
T |
3: 100,592,001 (GRCm39) |
S60T |
probably benign |
Het |
| Mdh1 |
C |
T |
11: 21,514,138 (GRCm39) |
R93K |
probably benign |
Het |
| Nf2 |
T |
A |
11: 4,741,118 (GRCm39) |
E365D |
probably benign |
Het |
| Nfrkb |
A |
G |
9: 31,330,323 (GRCm39) |
M1192V |
probably benign |
Het |
| Npas4 |
A |
C |
19: 5,036,108 (GRCm39) |
D685E |
probably benign |
Het |
| Or11h4b |
T |
A |
14: 50,918,606 (GRCm39) |
I162F |
probably damaging |
Het |
| Or12k5 |
G |
T |
2: 36,894,794 (GRCm39) |
Y277* |
probably null |
Het |
| Or4f4-ps1 |
A |
G |
2: 111,330,310 (GRCm39) |
T238A |
probably damaging |
Het |
| Ovch2 |
G |
A |
7: 107,393,207 (GRCm39) |
T222I |
probably damaging |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,142,795 (GRCm39) |
I668F |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ppa1 |
A |
G |
10: 61,496,704 (GRCm39) |
D64G |
possibly damaging |
Het |
| Rnf133 |
T |
C |
6: 23,649,405 (GRCm39) |
I175V |
probably benign |
Het |
| Rpp30 |
A |
G |
19: 36,071,812 (GRCm39) |
I127V |
probably benign |
Het |
| Scube2 |
T |
A |
7: 109,399,797 (GRCm39) |
H913L |
probably damaging |
Het |
| Sema6d |
T |
A |
2: 124,507,197 (GRCm39) |
S1045T |
probably benign |
Het |
| Skida1 |
A |
T |
2: 18,051,402 (GRCm39) |
N496K |
unknown |
Het |
| Slc29a2 |
A |
T |
19: 5,080,448 (GRCm39) |
I397F |
probably benign |
Het |
| Slc38a2 |
G |
T |
15: 96,590,294 (GRCm39) |
R316S |
probably damaging |
Het |
| Slc40a1 |
A |
C |
1: 45,951,498 (GRCm39) |
Y220D |
probably damaging |
Het |
| Strc |
T |
G |
2: 121,208,012 (GRCm39) |
H453P |
probably damaging |
Het |
| Tmprss3 |
T |
A |
17: 31,407,358 (GRCm39) |
I312F |
probably damaging |
Het |
| Tnn |
G |
A |
1: 159,958,256 (GRCm39) |
T529I |
probably damaging |
Het |
| Tnr |
A |
T |
1: 159,713,801 (GRCm39) |
D743V |
possibly damaging |
Het |
| Trim42 |
A |
T |
9: 97,245,174 (GRCm39) |
F542Y |
probably benign |
Het |
| Trpm2 |
A |
T |
10: 77,747,236 (GRCm39) |
Y1421N |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,576,901 (GRCm39) |
E24664G |
probably damaging |
Het |
| Ube2q2 |
T |
C |
9: 55,092,250 (GRCm39) |
|
probably null |
Het |
| Unc79 |
A |
T |
12: 103,045,297 (GRCm39) |
R824S |
probably benign |
Het |
| V1ra8 |
A |
G |
6: 90,180,559 (GRCm39) |
D254G |
probably damaging |
Het |
| Vmn1r173 |
A |
T |
7: 23,401,959 (GRCm39) |
I65F |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,488,138 (GRCm39) |
M337K |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,125,431 (GRCm39) |
G487C |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,242,926 (GRCm39) |
Y127C |
probably damaging |
Het |
| Zfp229 |
T |
C |
17: 21,965,815 (GRCm39) |
S682P |
probably damaging |
Het |
| Zscan4-ps1 |
A |
T |
7: 10,802,447 (GRCm39) |
D117E |
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 |
|
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 |
|
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'- GCCTGTACCAACACCAAGGTAG -3'
(R):5'- ACAGATGTCAGATCCGGTTC -3'
Sequencing Primer
(F):5'- TGTACCAACACCAAGGTAGATATG -3'
(R):5'- CAGATGTCAGATCCGGTTCTTAAAGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation