Incidental Mutation 'R2352:Mical1'
| ID |
246208 |
| 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 |
040334-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R2352 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
41352310-41363028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41358229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 414
(D414V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019965]
[ENSMUST00000019967]
[ENSMUST00000099934]
[ENSMUST00000119962]
[ENSMUST00000126436]
[ENSMUST00000151486]
|
| AlphaFold |
Q8VDP3 |
| 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: D487V
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000019967
Gene: ENSMUSG00000019823
AA Change: D487V
| 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
AA Change: D414V
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000097519
Gene: ENSMUSG00000019823
AA Change: D414V
| 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
AA Change: D487V
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000113783
Gene: ENSMUSG00000019823
AA Change: D487V
| 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
AA Change: D487V
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000114969
Gene: ENSMUSG00000019823
AA Change: D487V
| 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: ENSMUST00000126833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134010
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130838
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138657
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141542
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151486
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd28 |
C |
T |
14: 31,432,904 (GRCm39) |
V548I |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,385,300 (GRCm39) |
S315P |
probably benign |
Het |
| Caln1 |
G |
T |
5: 130,534,993 (GRCm39) |
E70* |
probably null |
Het |
| Cd69 |
A |
T |
6: 129,246,567 (GRCm39) |
W114R |
probably damaging |
Het |
| Cnbd2 |
T |
C |
2: 156,177,275 (GRCm39) |
Y90H |
probably damaging |
Het |
| Crebrf |
C |
T |
17: 26,961,320 (GRCm39) |
S147F |
probably damaging |
Het |
| Cts7 |
A |
T |
13: 61,500,586 (GRCm39) |
C320* |
probably null |
Het |
| Dgat1 |
T |
C |
15: 76,386,513 (GRCm39) |
I474V |
possibly damaging |
Het |
| Dmxl2 |
T |
A |
9: 54,301,146 (GRCm39) |
I2322F |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 117,892,065 (GRCm39) |
F3703I |
probably damaging |
Het |
| Foxb2 |
A |
G |
19: 16,850,433 (GRCm39) |
L191P |
unknown |
Het |
| Gli3 |
A |
T |
13: 15,836,977 (GRCm39) |
E453D |
probably benign |
Het |
| Gnl3 |
C |
T |
14: 30,738,783 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
A |
T |
16: 36,718,921 (GRCm39) |
T276S |
probably damaging |
Het |
| Grk4 |
T |
C |
5: 34,826,520 (GRCm39) |
M40T |
probably benign |
Het |
| Hoxb1 |
A |
G |
11: 96,257,203 (GRCm39) |
N184S |
possibly damaging |
Het |
| Insr |
G |
T |
8: 3,242,593 (GRCm39) |
T42N |
probably damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,011,815 (GRCm39) |
K836E |
possibly damaging |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Leng9 |
T |
A |
7: 4,152,409 (GRCm39) |
E89V |
probably damaging |
Het |
| Lhcgr |
C |
T |
17: 89,049,727 (GRCm39) |
V600I |
possibly damaging |
Het |
| Lima1 |
T |
C |
15: 99,692,396 (GRCm39) |
N183S |
probably benign |
Het |
| Lmtk2 |
A |
G |
5: 144,110,729 (GRCm39) |
D483G |
probably benign |
Het |
| Lpcat2b |
T |
G |
5: 107,581,307 (GRCm39) |
L212R |
probably damaging |
Het |
| Lrrc61 |
A |
T |
6: 48,545,806 (GRCm39) |
I210F |
probably benign |
Het |
| Lypd8l |
G |
A |
11: 58,502,934 (GRCm39) |
Q72* |
probably null |
Het |
| Lypd8l |
A |
T |
11: 58,503,676 (GRCm39) |
L10H |
probably damaging |
Het |
| Med12l |
C |
T |
3: 59,148,113 (GRCm39) |
L977F |
probably damaging |
Het |
| Mmp14 |
C |
T |
14: 54,678,002 (GRCm39) |
A541V |
probably benign |
Het |
| Mtmr10 |
A |
G |
7: 63,947,328 (GRCm39) |
D81G |
possibly damaging |
Het |
| Myh1 |
G |
A |
11: 67,111,363 (GRCm39) |
V1601M |
probably benign |
Het |
| Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,177,348 (GRCm39) |
Y1331C |
probably damaging |
Het |
| Otop2 |
T |
C |
11: 115,219,927 (GRCm39) |
S256P |
probably damaging |
Het |
| Prl8a1 |
A |
G |
13: 27,759,572 (GRCm39) |
L155P |
probably damaging |
Het |
| Rrp1b |
A |
T |
17: 32,278,302 (GRCm39) |
M658L |
possibly damaging |
Het |
| Sema4b |
C |
A |
7: 79,870,627 (GRCm39) |
A525D |
probably damaging |
Het |
| Slc13a5 |
T |
A |
11: 72,143,147 (GRCm39) |
I369F |
probably benign |
Het |
| Slc22a18 |
T |
C |
7: 143,051,152 (GRCm39) |
S344P |
probably benign |
Het |
| Slc25a4 |
A |
C |
8: 46,662,212 (GRCm39) |
S149A |
probably benign |
Het |
| Smc2 |
A |
T |
4: 52,460,266 (GRCm39) |
E547D |
probably benign |
Het |
| Stx8 |
A |
G |
11: 67,864,077 (GRCm39) |
T46A |
probably benign |
Het |
| Tacr3 |
T |
C |
3: 134,560,631 (GRCm39) |
V190A |
probably benign |
Het |
| Tdrkh |
A |
T |
3: 94,336,467 (GRCm39) |
K468M |
possibly damaging |
Het |
| Tmem145 |
T |
C |
7: 25,005,598 (GRCm39) |
S4P |
probably benign |
Het |
| Tmem74 |
A |
G |
15: 43,730,506 (GRCm39) |
I179T |
probably damaging |
Het |
| Vmn1r222 |
A |
C |
13: 23,416,683 (GRCm39) |
W177G |
probably benign |
Het |
| Zfp426 |
T |
C |
9: 20,381,401 (GRCm39) |
I529V |
probably benign |
Het |
| Zfp462 |
A |
G |
4: 55,008,313 (GRCm39) |
Y93C |
probably null |
Het |
| Zfyve26 |
G |
A |
12: 79,330,890 (GRCm39) |
T443I |
probably damaging |
Het |
| Zkscan16 |
A |
C |
4: 58,951,869 (GRCm39) |
R181S |
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 |
|
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'- AGGTCAGACTCTCTACCCTACC -3'
(R):5'- GGCTCACAGAACAGGTAGTC -3'
Sequencing Primer
(F):5'- CGCCCATCTTCCCAGATCAC -3'
(R):5'- CAGGTAGTCTGGGTTTACACC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation