Incidental Mutation 'R4194:Mical1'
ID |
318490 |
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 |
041025-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R4194 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
41352310-41363028 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 41357624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 410
(F410L)
|
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: F410L
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000019967 Gene: ENSMUSG00000019823 AA Change: F410L
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: F337L
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000097519 Gene: ENSMUSG00000019823 AA Change: F337L
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: F410L
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113783 Gene: ENSMUSG00000019823 AA Change: F410L
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 |
possibly damaging
Transcript: ENSMUST00000126436
AA Change: F410L
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000114969 Gene: ENSMUSG00000019823 AA Change: F410L
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: ENSMUST00000134010
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130838
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126833
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138657
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136681
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151486
|
Meta Mutation Damage Score |
0.3754 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (54/55) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
A |
T |
4: 85,972,245 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
C |
A |
13: 81,647,115 (GRCm39) |
V3142F |
probably damaging |
Het |
Alms1 |
C |
T |
6: 85,654,972 (GRCm39) |
Q3173* |
probably null |
Het |
Ankrd26 |
A |
G |
6: 118,500,639 (GRCm39) |
F944S |
probably benign |
Het |
Arhgap11a |
G |
T |
2: 113,672,339 (GRCm39) |
H210N |
probably benign |
Het |
Brca1 |
T |
C |
11: 101,416,113 (GRCm39) |
N674D |
probably benign |
Het |
Bud13 |
T |
A |
9: 46,209,793 (GRCm39) |
V634E |
probably damaging |
Het |
Capn13 |
C |
T |
17: 73,646,479 (GRCm39) |
M311I |
possibly damaging |
Het |
Cdyl2 |
T |
C |
8: 117,305,903 (GRCm39) |
|
probably null |
Het |
Celsr3 |
T |
C |
9: 108,720,501 (GRCm39) |
|
probably null |
Het |
Col6a5 |
C |
G |
9: 105,823,113 (GRCm39) |
E81D |
unknown |
Het |
Ctbs |
C |
A |
3: 146,156,368 (GRCm39) |
H38N |
probably benign |
Het |
Ctnnd1 |
T |
C |
2: 84,434,045 (GRCm39) |
D897G |
possibly damaging |
Het |
Cyp2d41-ps |
T |
C |
15: 82,666,154 (GRCm39) |
|
noncoding transcript |
Het |
Dnttip2 |
G |
A |
3: 122,074,410 (GRCm39) |
E616K |
probably damaging |
Het |
Epb41l5 |
A |
T |
1: 119,535,823 (GRCm39) |
S348R |
probably damaging |
Het |
Fam185a |
A |
G |
5: 21,630,452 (GRCm39) |
H96R |
probably benign |
Het |
Fbxo11 |
T |
C |
17: 88,316,536 (GRCm39) |
D279G |
possibly damaging |
Het |
Gm3952 |
C |
A |
8: 129,486,346 (GRCm39) |
G1578V |
probably damaging |
Het |
Grb7 |
T |
A |
11: 98,345,881 (GRCm39) |
|
probably benign |
Het |
Grik1 |
A |
G |
16: 87,743,616 (GRCm39) |
V537A |
probably benign |
Het |
H2-Eb2 |
T |
A |
17: 34,552,300 (GRCm39) |
N48K |
probably benign |
Het |
Kank3 |
A |
G |
17: 34,041,237 (GRCm39) |
|
probably benign |
Het |
Kifap3 |
T |
C |
1: 163,743,394 (GRCm39) |
S792P |
probably benign |
Het |
Klhl35 |
A |
T |
7: 99,123,058 (GRCm39) |
|
probably null |
Het |
Lpxn |
T |
C |
19: 12,810,599 (GRCm39) |
F348L |
probably damaging |
Het |
Mef2d |
A |
G |
3: 88,065,610 (GRCm39) |
Y114C |
possibly damaging |
Het |
Mfap3 |
T |
A |
11: 57,420,529 (GRCm39) |
L170H |
probably damaging |
Het |
Mppe1 |
G |
A |
18: 67,361,139 (GRCm39) |
S206F |
probably benign |
Het |
Myo9b |
C |
T |
8: 71,812,268 (GRCm39) |
A2013V |
possibly damaging |
Het |
Phactr3 |
T |
C |
2: 177,924,902 (GRCm39) |
V243A |
possibly damaging |
Het |
Ppp4r4 |
T |
C |
12: 103,524,704 (GRCm39) |
L92P |
probably damaging |
Het |
Prss59 |
A |
T |
6: 40,898,005 (GRCm39) |
V226E |
probably damaging |
Het |
Rap1gds1 |
C |
T |
3: 138,664,851 (GRCm39) |
D236N |
probably damaging |
Het |
Rnf8 |
T |
C |
17: 29,850,642 (GRCm39) |
|
probably benign |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,434 (GRCm39) |
|
noncoding transcript |
Het |
Sfta2 |
T |
C |
17: 35,939,057 (GRCm39) |
|
probably null |
Het |
Sipa1l2 |
T |
A |
8: 126,218,411 (GRCm39) |
T309S |
probably benign |
Het |
Sos1 |
T |
C |
17: 80,706,013 (GRCm39) |
D1186G |
probably benign |
Het |
Sptb |
C |
A |
12: 76,659,784 (GRCm39) |
V1039F |
probably benign |
Het |
Sycp3 |
T |
C |
10: 88,299,237 (GRCm39) |
V68A |
probably benign |
Het |
Tas1r3 |
T |
C |
4: 155,947,442 (GRCm39) |
E81G |
probably damaging |
Het |
Ttc3 |
G |
A |
16: 94,223,136 (GRCm39) |
R253H |
probably damaging |
Het |
Ugt1a7c |
A |
G |
1: 88,023,449 (GRCm39) |
T203A |
possibly damaging |
Het |
Vtcn1 |
A |
T |
3: 100,795,525 (GRCm39) |
E164V |
probably damaging |
Het |
Zan |
T |
C |
5: 137,461,817 (GRCm39) |
T1121A |
unknown |
Het |
Zfp473 |
T |
C |
7: 44,381,676 (GRCm39) |
I885V |
probably benign |
Het |
Zfp990 |
A |
T |
4: 145,263,547 (GRCm39) |
|
probably null |
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 |
|
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'- TATGGGTCCCACAGTTCAGG -3'
(R):5'- TGAGCAACTGCAGGGCTTTC -3'
Sequencing Primer
(F):5'- TCCCACAGTTCAGGAGGGAG -3'
(R):5'- AGGGCTTTCCTGTAGTCCCG -3'
|
Posted On |
2015-06-10 |