Incidental Mutation 'R5340:Mical1'
| ID |
422286 |
| 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 |
042919-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R5340 (G1)
|
| Quality Score |
215 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
41352310-41363028 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 41359427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019965]
[ENSMUST00000019967]
[ENSMUST00000099934]
[ENSMUST00000119962]
[ENSMUST00000126436]
[ENSMUST00000155411]
|
| 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 null
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 null
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 null
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: ENSMUST00000122997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125099
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134010
|
| 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: ENSMUST00000126833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141542
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130838
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138657
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147367
|
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqp7 |
T |
C |
4: 41,034,347 (GRCm39) |
R271G |
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,420,231 (GRCm39) |
I793V |
probably benign |
Het |
| Baz2a |
C |
T |
10: 127,950,911 (GRCm39) |
R535C |
probably damaging |
Het |
| BC034090 |
T |
C |
1: 155,102,160 (GRCm39) |
T35A |
possibly damaging |
Het |
| Bnip1 |
T |
C |
17: 27,005,764 (GRCm39) |
|
probably null |
Het |
| Ccdc136 |
A |
G |
6: 29,411,859 (GRCm39) |
S369G |
possibly damaging |
Het |
| Csrnp3 |
A |
G |
2: 65,852,781 (GRCm39) |
D391G |
probably benign |
Het |
| Ctbp2 |
G |
T |
7: 132,615,692 (GRCm39) |
H414Q |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,189,603 (GRCm39) |
I15T |
probably benign |
Het |
| Dync2li1 |
A |
G |
17: 84,957,130 (GRCm39) |
|
probably null |
Het |
| Eri3 |
A |
T |
4: 117,530,991 (GRCm39) |
I329F |
probably damaging |
Het |
| Flii |
T |
A |
11: 60,608,094 (GRCm39) |
I786F |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,657,551 (GRCm39) |
I530N |
probably benign |
Het |
| Gm28042 |
T |
C |
2: 119,871,929 (GRCm39) |
S960P |
probably benign |
Het |
| Gzmm |
C |
A |
10: 79,530,907 (GRCm39) |
F236L |
probably benign |
Het |
| H2bl1 |
C |
T |
13: 99,120,951 (GRCm39) |
R25H |
possibly damaging |
Het |
| Igkv4-55 |
A |
G |
6: 69,584,489 (GRCm39) |
V41A |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,313,170 (GRCm39) |
Y1020H |
probably benign |
Het |
| Masp1 |
T |
C |
16: 23,276,858 (GRCm39) |
Y549C |
probably damaging |
Het |
| Mblac1 |
A |
T |
5: 138,192,840 (GRCm39) |
S61C |
probably damaging |
Het |
| Mroh9 |
C |
T |
1: 162,908,156 (GRCm39) |
|
probably benign |
Het |
| Mta2 |
T |
C |
19: 8,919,720 (GRCm39) |
M1T |
probably null |
Het |
| Neb |
A |
G |
2: 52,113,060 (GRCm39) |
Y4245H |
probably damaging |
Het |
| Or11j4 |
T |
C |
14: 50,630,677 (GRCm39) |
F155L |
probably damaging |
Het |
| Or4c52 |
T |
C |
2: 89,845,706 (GRCm39) |
V144A |
probably benign |
Het |
| Otulinl |
T |
C |
15: 27,658,175 (GRCm39) |
M282V |
possibly damaging |
Het |
| Pak2 |
G |
T |
16: 31,853,764 (GRCm39) |
|
probably null |
Het |
| Phc3 |
A |
T |
3: 30,961,616 (GRCm39) |
F939I |
probably damaging |
Het |
| Prss3l |
T |
C |
6: 41,422,307 (GRCm39) |
N33D |
probably benign |
Het |
| Rogdi |
C |
A |
16: 4,831,225 (GRCm39) |
R14L |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,664,470 (GRCm39) |
Y1627C |
probably damaging |
Het |
| Scrn3 |
A |
T |
2: 73,166,154 (GRCm39) |
K396* |
probably null |
Het |
| Sh3pxd2a |
T |
C |
19: 47,256,670 (GRCm39) |
N683D |
probably benign |
Het |
| Smtnl1 |
T |
A |
2: 84,645,785 (GRCm39) |
H362L |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,210,479 (GRCm39) |
S927G |
probably benign |
Het |
| Tcaf1 |
A |
G |
6: 42,655,923 (GRCm39) |
V351A |
probably damaging |
Het |
| Tmem232 |
C |
T |
17: 65,709,993 (GRCm39) |
V432M |
possibly damaging |
Het |
| Ttll11 |
G |
T |
2: 35,792,801 (GRCm39) |
H347Q |
probably damaging |
Het |
| Vmn2r56 |
A |
C |
7: 12,449,799 (GRCm39) |
D146E |
probably damaging |
Het |
| Wwp1 |
A |
G |
4: 19,638,773 (GRCm39) |
|
probably null |
Het |
| Zcchc7 |
T |
A |
4: 44,762,245 (GRCm39) |
N124K |
probably benign |
Het |
| Zfp667 |
A |
G |
7: 6,308,252 (GRCm39) |
T307A |
possibly damaging |
Het |
| Zfp709 |
T |
A |
8: 72,643,596 (GRCm39) |
C342S |
probably damaging |
Het |
| Zfp940 |
A |
G |
7: 29,544,266 (GRCm39) |
V547A |
probably benign |
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 |
|
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'- CTGTCCCTGTGGGTTAAAGG -3'
(R):5'- TCCAACTCACCTGAGCTGTG -3'
Sequencing Primer
(F):5'- CCCTGTGGGTTAAAGGGCTGAG -3'
(R):5'- GCTCGTGTTCTTGAAGGCAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation