Incidental Mutation 'R1806:Mical1'
| ID |
203476 |
| 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 |
039835-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R1806 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
41352310-41363028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 41354210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 53
(A53V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019967]
[ENSMUST00000099934]
[ENSMUST00000119962]
[ENSMUST00000126436]
[ENSMUST00000151486]
|
| AlphaFold |
Q8VDP3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019967
AA Change: A53V
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000019967
Gene: ENSMUSG00000019823
AA Change: A53V
| 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: A53V
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097519
Gene: ENSMUSG00000019823
AA Change: A53V
| 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: A53V
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113783
Gene: ENSMUSG00000019823
AA Change: A53V
| 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: A53V
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114969
Gene: ENSMUSG00000019823
AA Change: A53V
| 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 |
noncoding transcript
Transcript: ENSMUST00000136681
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151486
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.2%
|
| Validation Efficiency |
96% (77/80) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
C |
3: 59,784,571 (GRCm39) |
L348P |
probably damaging |
Het |
| Adamts15 |
C |
A |
9: 30,816,111 (GRCm39) |
C616F |
probably damaging |
Het |
| Adarb1 |
T |
C |
10: 77,158,099 (GRCm39) |
N116S |
probably damaging |
Het |
| Add2 |
C |
T |
6: 86,095,639 (GRCm39) |
S437L |
probably damaging |
Het |
| Adra1d |
T |
A |
2: 131,388,069 (GRCm39) |
R495S |
probably benign |
Het |
| Agk |
C |
T |
6: 40,364,429 (GRCm39) |
T309I |
probably damaging |
Het |
| Aqr |
T |
C |
2: 113,992,133 (GRCm39) |
Y81C |
probably damaging |
Het |
| Bak1 |
G |
A |
17: 27,240,242 (GRCm39) |
Q142* |
probably null |
Het |
| Bckdha |
A |
G |
7: 25,330,845 (GRCm39) |
V307A |
probably damaging |
Het |
| Camk2n2 |
C |
A |
16: 20,438,948 (GRCm39) |
G72V |
probably benign |
Het |
| Cd276 |
A |
T |
9: 58,434,845 (GRCm39) |
|
probably benign |
Het |
| Cd2ap |
G |
A |
17: 43,149,649 (GRCm39) |
Q122* |
probably null |
Het |
| Cdan1 |
T |
A |
2: 120,561,907 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
T |
C |
8: 107,263,547 (GRCm39) |
S156P |
probably benign |
Het |
| Chil4 |
T |
A |
3: 106,117,959 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
C |
T |
3: 113,951,791 (GRCm39) |
R1074C |
probably damaging |
Het |
| Depp1 |
G |
A |
6: 116,628,683 (GRCm39) |
V9M |
possibly damaging |
Het |
| Fcrlb |
T |
C |
1: 170,735,096 (GRCm39) |
T344A |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,861,829 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
G |
T |
5: 96,912,835 (GRCm39) |
V3380F |
possibly damaging |
Het |
| Galnt9 |
A |
G |
5: 110,767,119 (GRCm39) |
D530G |
possibly damaging |
Het |
| Gja10 |
A |
T |
4: 32,601,135 (GRCm39) |
S416R |
probably benign |
Het |
| Gm10549 |
T |
A |
18: 33,603,841 (GRCm39) |
V108E |
unknown |
Het |
| Hook3 |
A |
T |
8: 26,558,687 (GRCm39) |
L59Q |
probably damaging |
Het |
| Hpf1 |
T |
A |
8: 61,353,154 (GRCm39) |
D178E |
probably benign |
Het |
| Hsd17b7 |
T |
C |
1: 169,788,698 (GRCm39) |
N173S |
possibly damaging |
Het |
| Hsph1 |
A |
G |
5: 149,553,454 (GRCm39) |
F236L |
probably damaging |
Het |
| Kcnk12 |
G |
T |
17: 88,053,537 (GRCm39) |
T375K |
probably benign |
Het |
| Klra3 |
A |
T |
6: 130,304,033 (GRCm39) |
S220T |
probably damaging |
Het |
| Lhx1 |
A |
T |
11: 84,414,967 (GRCm39) |
L12Q |
probably damaging |
Het |
| Lnx1 |
A |
G |
5: 74,766,710 (GRCm39) |
L468P |
probably damaging |
Het |
| Ltbp3 |
T |
A |
19: 5,803,970 (GRCm39) |
C827* |
probably null |
Het |
| Mmp10 |
A |
T |
9: 7,506,502 (GRCm39) |
H326L |
probably benign |
Het |
| Mpl |
A |
T |
4: 118,300,729 (GRCm39) |
M600K |
possibly damaging |
Het |
| Muc5b |
T |
A |
7: 141,419,230 (GRCm39) |
D4004E |
possibly damaging |
Het |
| Myo5b |
A |
T |
18: 74,710,680 (GRCm39) |
H98L |
possibly damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,323,251 (GRCm39) |
T2110A |
probably damaging |
Het |
| Nedd4l |
C |
A |
18: 65,345,862 (GRCm39) |
R825S |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Or4k35 |
A |
T |
2: 111,100,622 (GRCm39) |
I30N |
possibly damaging |
Het |
| Or52e19 |
T |
A |
7: 102,959,432 (GRCm39) |
L168Q |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,483 (GRCm39) |
I201N |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,940,361 (GRCm39) |
|
probably null |
Het |
| Parp2 |
T |
A |
14: 51,056,836 (GRCm39) |
L320H |
probably damaging |
Het |
| Poglut3 |
T |
C |
9: 53,307,150 (GRCm39) |
Y365H |
probably damaging |
Het |
| Pola2 |
C |
T |
19: 5,993,250 (GRCm39) |
|
probably null |
Het |
| Poln |
A |
T |
5: 34,264,494 (GRCm39) |
|
probably benign |
Het |
| Pomt1 |
T |
A |
2: 32,131,680 (GRCm39) |
V123E |
probably damaging |
Het |
| Prom2 |
T |
C |
2: 127,374,802 (GRCm39) |
Y578C |
probably damaging |
Het |
| Prss23 |
T |
C |
7: 89,159,599 (GRCm39) |
T157A |
probably damaging |
Het |
| Sdk1 |
T |
A |
5: 141,598,950 (GRCm39) |
V205E |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 142,147,681 (GRCm39) |
K1771R |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,102,234 (GRCm39) |
S309T |
possibly damaging |
Het |
| Sirpa |
T |
A |
2: 129,457,432 (GRCm39) |
F169I |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,955,916 (GRCm39) |
N374S |
probably damaging |
Het |
| Sp110 |
C |
T |
1: 85,523,831 (GRCm39) |
|
probably null |
Het |
| Stard9 |
A |
G |
2: 120,509,934 (GRCm39) |
|
probably null |
Het |
| Synpr |
A |
G |
14: 13,563,082 (GRCm38) |
N105S |
probably damaging |
Het |
| Tbc1d16 |
T |
C |
11: 119,046,927 (GRCm39) |
Y440C |
probably damaging |
Het |
| Trabd |
A |
G |
15: 88,969,824 (GRCm39) |
I313V |
possibly damaging |
Het |
| Trappc10 |
T |
C |
10: 78,046,610 (GRCm39) |
R430G |
probably damaging |
Het |
| Trim50 |
A |
G |
5: 135,387,743 (GRCm39) |
E145G |
probably benign |
Het |
| Uba2 |
A |
T |
7: 33,862,624 (GRCm39) |
F105I |
probably damaging |
Het |
| Uba3 |
A |
G |
6: 97,176,230 (GRCm39) |
V92A |
possibly damaging |
Het |
| Uhmk1 |
T |
C |
1: 170,038,628 (GRCm39) |
K153R |
probably damaging |
Het |
| Vmn2r3 |
T |
C |
3: 64,194,810 (GRCm39) |
K8R |
possibly damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,893 (GRCm39) |
M269L |
probably benign |
Het |
| Xpot |
G |
T |
10: 121,443,543 (GRCm39) |
|
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,624,949 (GRCm39) |
Y439C |
probably benign |
Het |
| Zfy1 |
T |
A |
Y: 725,620 (GRCm39) |
H715L |
possibly damaging |
Het |
| Zmym1 |
A |
C |
4: 126,941,872 (GRCm39) |
L839V |
probably 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 |
|
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'- CTGAGCTCCCTTGTGACAAC -3'
(R):5'- GGGTATGTAGCATCCTGTCTCC -3'
Sequencing Primer
(F):5'- AGCTGCTCCTGCTGTCAACAG -3'
(R):5'- GGTATGTAGCATCCTGTCTCCTTCTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation