Incidental Mutation 'R4184:Mical1'
| ID |
319874 |
| 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 |
041020-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R4184 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
41352310-41363028 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 41357866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019967]
[ENSMUST00000099934]
[ENSMUST00000119962]
[ENSMUST00000126436]
[ENSMUST00000151486]
|
| AlphaFold |
Q8VDP3 |
| Predicted Effect |
probably benign
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 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 benign
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: ENSMUST00000136681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130838
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138657
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134010
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151486
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
95% (55/58) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
A |
T |
7: 143,447,858 (GRCm39) |
K234* |
probably null |
Het |
| Ccdc178 |
A |
G |
18: 22,157,841 (GRCm39) |
L539P |
probably damaging |
Het |
| Cd5 |
T |
A |
19: 10,698,638 (GRCm39) |
N423I |
probably damaging |
Het |
| Ceacam20 |
C |
T |
7: 19,710,041 (GRCm39) |
T355I |
probably damaging |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Cln8 |
T |
C |
8: 14,945,030 (GRCm39) |
F115L |
probably benign |
Het |
| Cpne9 |
T |
A |
6: 113,259,418 (GRCm39) |
|
probably benign |
Het |
| Cyp4a32 |
C |
T |
4: 115,478,720 (GRCm39) |
T484I |
possibly damaging |
Het |
| Des |
C |
G |
1: 75,339,228 (GRCm39) |
A251G |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,682,516 (GRCm39) |
D270G |
probably damaging |
Het |
| Epc1 |
T |
C |
18: 6,453,578 (GRCm39) |
E249G |
possibly damaging |
Het |
| Fsbp |
T |
A |
4: 11,584,058 (GRCm39) |
N252K |
probably benign |
Het |
| Gramd1a |
C |
A |
7: 30,831,940 (GRCm39) |
|
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
| Igsf10 |
C |
T |
3: 59,227,152 (GRCm39) |
V2174M |
probably damaging |
Het |
| Kcnu1 |
T |
C |
8: 26,352,445 (GRCm39) |
L204P |
probably damaging |
Het |
| Kdm7a |
T |
C |
6: 39,125,911 (GRCm39) |
E628G |
probably benign |
Het |
| Klhl36 |
T |
C |
8: 120,601,124 (GRCm39) |
M381T |
probably damaging |
Het |
| Kpna3 |
A |
T |
14: 61,605,624 (GRCm39) |
Y474N |
probably damaging |
Het |
| Lsm8 |
G |
T |
6: 18,849,604 (GRCm39) |
|
probably benign |
Het |
| Mapk8 |
T |
C |
14: 33,104,177 (GRCm39) |
D413G |
probably damaging |
Het |
| Mbd2 |
T |
A |
18: 70,751,050 (GRCm39) |
C362S |
probably damaging |
Het |
| Mex3b |
A |
G |
7: 82,519,238 (GRCm39) |
R518G |
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,748,613 (GRCm39) |
S1996P |
probably damaging |
Het |
| Or11g7 |
A |
G |
14: 50,690,827 (GRCm39) |
Y106C |
probably damaging |
Het |
| Or11h4b |
C |
G |
14: 50,918,507 (GRCm39) |
E195Q |
probably benign |
Het |
| Or1o2 |
T |
G |
17: 37,542,739 (GRCm39) |
H174P |
possibly damaging |
Het |
| Otop2 |
T |
A |
11: 115,220,671 (GRCm39) |
C504S |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,279,501 (GRCm39) |
H2939L |
probably benign |
Het |
| Pkhd1 |
C |
T |
1: 20,633,910 (GRCm39) |
V542M |
probably benign |
Het |
| Pkhd1l1 |
C |
T |
15: 44,455,302 (GRCm39) |
T4021I |
probably benign |
Het |
| Prr36 |
T |
C |
8: 4,263,409 (GRCm39) |
|
probably benign |
Het |
| Ptchd4 |
A |
T |
17: 42,813,650 (GRCm39) |
Y517F |
probably damaging |
Het |
| Pth1r |
A |
G |
9: 110,571,300 (GRCm39) |
M1T |
probably null |
Het |
| Rdx |
C |
A |
9: 51,978,680 (GRCm39) |
L163M |
probably damaging |
Het |
| Reep6 |
A |
G |
10: 80,169,648 (GRCm39) |
Y112C |
probably damaging |
Het |
| Rpp21 |
A |
G |
17: 36,568,611 (GRCm39) |
|
probably benign |
Het |
| Sacs |
T |
A |
14: 61,451,393 (GRCm39) |
C4480S |
probably damaging |
Het |
| Slc15a1 |
G |
A |
14: 121,703,574 (GRCm39) |
T512I |
probably benign |
Het |
| Slc22a22 |
A |
T |
15: 57,119,962 (GRCm39) |
C170* |
probably null |
Het |
| Slc26a2 |
C |
T |
18: 61,331,904 (GRCm39) |
R509K |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,147,786 (GRCm39) |
|
probably benign |
Het |
| Stc1 |
A |
T |
14: 69,266,834 (GRCm39) |
|
probably benign |
Het |
| Tbc1d32 |
T |
A |
10: 56,100,676 (GRCm39) |
T101S |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,850,990 (GRCm39) |
T23A |
probably benign |
Het |
| Vmn1r52 |
T |
G |
6: 90,156,219 (GRCm39) |
F174L |
probably benign |
Het |
| Zfp972 |
G |
A |
2: 177,563,250 (GRCm39) |
Q56* |
probably null |
Het |
| Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
Het |
| Zfpl1 |
A |
G |
19: 6,131,170 (GRCm39) |
L274P |
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 |
|
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 |
|
|
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'- CTTCTTGGCAGCCTTCGATG -3'
(R):5'- TAGAGAGTCTGACCTGATTGGG -3'
Sequencing Primer
(F):5'- CTTCGATGCAGCCTGGATG -3'
(R):5'- ACCTGATTGGGGGTTACAGCC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation