Incidental Mutation 'R2136:Mical2'
| ID |
235818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mical2
|
| Ensembl Gene |
ENSMUSG00000038244 |
| Gene Name |
microtubule associated monooxygenase, calponin and LIM domain containing 2 |
| Synonyms |
5330438E18Rik |
| MMRRC Submission |
040139-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.293)
|
| Stock # |
R2136 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
112225856-112355194 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 112271515 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 70
(D70E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037991]
[ENSMUST00000050149]
|
| AlphaFold |
Q8BML1
Q9D5U9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037991
AA Change: D70E
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000047639
Gene: ENSMUSG00000038244
AA Change: D70E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAD_binding_3
|
86 |
143 |
1e-8 |
PFAM |
|
Pfam:FAD_binding_2
|
88 |
127 |
3.2e-6 |
PFAM |
|
low complexity region
|
175 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
515 |
N/A |
INTRINSIC |
|
CH
|
518 |
617 |
4.14e-17 |
SMART |
|
low complexity region
|
691 |
700 |
N/A |
INTRINSIC |
|
low complexity region
|
894 |
925 |
N/A |
INTRINSIC |
|
LIM
|
979 |
1033 |
9.91e-10 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050149
AA Change: D70E
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000051163
Gene: ENSMUSG00000038244
AA Change: D70E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAD_binding_3
|
86 |
143 |
1.1e-8 |
PFAM |
|
Pfam:FAD_binding_2
|
88 |
127 |
1.5e-6 |
PFAM |
|
Pfam:Pyr_redox_2
|
88 |
259 |
1.3e-6 |
PFAM |
|
low complexity region
|
500 |
515 |
N/A |
INTRINSIC |
|
CH
|
518 |
617 |
4.14e-17 |
SMART |
|
low complexity region
|
691 |
700 |
N/A |
INTRINSIC |
|
LIM
|
752 |
806 |
9.91e-10 |
SMART |
|
low complexity region
|
918 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000106647
|
| SMART Domains |
Protein: ENSMUSP00000102258
Gene: ENSMUSG00000038244
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_binding_7
|
83 |
172 |
5.9e-7 |
PFAM |
|
Pfam:FAD_binding_3
|
86 |
144 |
5.9e-9 |
PFAM |
|
Pfam:Pyr_redox
|
88 |
126 |
3.4e-6 |
PFAM |
|
Pfam:FAD_binding_2
|
88 |
127 |
4.8e-7 |
PFAM |
|
Pfam:Pyr_redox_2
|
88 |
245 |
2.9e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000106648
|
| SMART Domains |
Protein: ENSMUSP00000102259
Gene: ENSMUSG00000038244
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAD_binding_3
|
86 |
143 |
9.5e-9 |
PFAM |
|
Pfam:FAD_binding_2
|
88 |
127 |
1.3e-6 |
PFAM |
|
Pfam:Pyr_redox_2
|
88 |
263 |
1e-6 |
PFAM |
|
low complexity region
|
500 |
515 |
N/A |
INTRINSIC |
|
CH
|
518 |
617 |
4.14e-17 |
SMART |
|
low complexity region
|
691 |
700 |
N/A |
INTRINSIC |
|
LIM
|
752 |
806 |
1.71e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930003A15Rik |
T |
G |
16: 19,883,780 (GRCm38) |
|
noncoding transcript |
Het |
| Abca5 |
T |
C |
11: 110,319,832 (GRCm38) |
T174A |
probably benign |
Het |
| Abcg3 |
G |
A |
5: 104,966,814 (GRCm38) |
S279L |
probably benign |
Het |
| Acap3 |
T |
C |
4: 155,896,912 (GRCm38) |
L85P |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,512,254 (GRCm38) |
K290R |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,647,621 (GRCm38) |
T1909A |
probably benign |
Het |
| Asap1 |
T |
C |
15: 64,110,959 (GRCm38) |
D832G |
probably damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,718,488 (GRCm38) |
L702Q |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 108,113,231 (GRCm38) |
V1774A |
probably damaging |
Het |
| Cd209e |
T |
C |
8: 3,853,248 (GRCm38) |
E48G |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,568,044 (GRCm38) |
|
probably null |
Het |
| Cfap65 |
C |
CA |
1: 74,917,273 (GRCm38) |
|
probably null |
Het |
| Cln3 |
A |
C |
7: 126,582,799 (GRCm38) |
S30R |
probably benign |
Het |
| Cluap1 |
C |
T |
16: 3,933,772 (GRCm38) |
R332W |
probably damaging |
Het |
| Crb1 |
A |
T |
1: 139,337,425 (GRCm38) |
V85E |
probably benign |
Het |
| Crocc |
G |
A |
4: 141,032,954 (GRCm38) |
R789W |
probably damaging |
Het |
| Cwh43 |
A |
G |
5: 73,415,054 (GRCm38) |
I212V |
probably benign |
Het |
| Cyp2t4 |
C |
A |
7: 27,158,160 (GRCm38) |
F391L |
probably benign |
Het |
| Dhx35 |
G |
T |
2: 158,831,861 (GRCm38) |
R404L |
probably damaging |
Het |
| Disp1 |
A |
G |
1: 183,088,378 (GRCm38) |
L826S |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,122,772 (GRCm38) |
E2061D |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,640,447 (GRCm38) |
Y1393N |
unknown |
Het |
| Fap |
C |
T |
2: 62,524,207 (GRCm38) |
G446D |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 16,377,051 (GRCm38) |
I392T |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,022,334 (GRCm38) |
|
probably null |
Het |
| Glipr1l1 |
T |
C |
10: 112,060,476 (GRCm38) |
V56A |
probably damaging |
Het |
| Grsf1 |
A |
G |
5: 88,672,658 (GRCm38) |
V7A |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,633,659 (GRCm38) |
A3646V |
probably damaging |
Het |
| Ipo9 |
A |
T |
1: 135,394,285 (GRCm38) |
I569N |
probably damaging |
Het |
| Irs1 |
G |
T |
1: 82,290,042 (GRCm38) |
P151Q |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,307,724 (GRCm38) |
D491G |
possibly damaging |
Het |
| Kctd7 |
T |
C |
5: 130,152,366 (GRCm38) |
L210P |
probably damaging |
Het |
| Lifr |
C |
A |
15: 7,181,857 (GRCm38) |
D625E |
possibly damaging |
Het |
| Lrguk |
T |
C |
6: 34,043,519 (GRCm38) |
V201A |
probably benign |
Het |
| Mark1 |
A |
G |
1: 184,919,573 (GRCm38) |
V135A |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,270,189 (GRCm38) |
Y434H |
probably damaging |
Het |
| Myh10 |
C |
A |
11: 68,804,714 (GRCm38) |
Q1556K |
probably damaging |
Het |
| Nav1 |
G |
A |
1: 135,454,436 (GRCm38) |
T1400I |
probably null |
Het |
| Or1j11 |
A |
G |
2: 36,421,938 (GRCm38) |
D180G |
probably damaging |
Het |
| Or2a7 |
A |
G |
6: 43,174,501 (GRCm38) |
K172E |
probably benign |
Het |
| Or4b13 |
A |
C |
2: 90,252,253 (GRCm38) |
V245G |
probably damaging |
Het |
| Or4f4b |
T |
C |
2: 111,483,616 (GRCm38) |
V62A |
probably damaging |
Het |
| Or4p7 |
T |
A |
2: 88,391,319 (GRCm38) |
I24N |
probably benign |
Het |
| Or5d43 |
T |
C |
2: 88,274,240 (GRCm38) |
K270E |
probably damaging |
Het |
| Or5e1 |
G |
A |
7: 108,755,223 (GRCm38) |
M122I |
possibly damaging |
Het |
| Osmr |
T |
A |
15: 6,852,462 (GRCm38) |
Q67L |
probably damaging |
Het |
| Pan2 |
T |
G |
10: 128,313,637 (GRCm38) |
V522G |
possibly damaging |
Het |
| Pard3 |
T |
G |
8: 127,376,885 (GRCm38) |
|
probably null |
Het |
| Pcdhgc5 |
G |
T |
18: 37,820,113 (GRCm38) |
A147S |
possibly damaging |
Het |
| Pcsk9 |
T |
C |
4: 106,446,770 (GRCm38) |
I506V |
probably benign |
Het |
| Polr3d |
GCCCCC |
GCCCC |
14: 70,443,047 (GRCm38) |
|
probably null |
Het |
| Prdm4 |
G |
A |
10: 85,893,351 (GRCm38) |
R731* |
probably null |
Het |
| Prdx6b |
T |
A |
2: 80,293,163 (GRCm38) |
D105E |
probably damaging |
Het |
| Prss3b |
A |
G |
6: 41,035,462 (GRCm38) |
F6S |
probably benign |
Het |
| Rab42 |
A |
G |
4: 132,302,479 (GRCm38) |
L144P |
probably damaging |
Het |
| Ralbp1 |
T |
A |
17: 65,864,666 (GRCm38) |
K104M |
probably damaging |
Het |
| Resf1 |
T |
A |
6: 149,328,822 (GRCm38) |
I1122K |
probably benign |
Het |
| Rrp12 |
A |
G |
19: 41,892,599 (GRCm38) |
V131A |
probably damaging |
Het |
| Sbno1 |
C |
T |
5: 124,387,534 (GRCm38) |
|
probably null |
Het |
| Sbno2 |
A |
T |
10: 80,062,693 (GRCm38) |
I645N |
probably damaging |
Het |
| Scfd2 |
T |
C |
5: 74,206,367 (GRCm38) |
K624R |
probably benign |
Het |
| Sgk2 |
C |
A |
2: 162,999,179 (GRCm38) |
|
probably null |
Het |
| Sirt4 |
A |
G |
5: 115,479,701 (GRCm38) |
S299P |
probably benign |
Het |
| Skic3 |
T |
C |
13: 76,173,354 (GRCm38) |
S1322P |
possibly damaging |
Het |
| Slit2 |
C |
T |
5: 48,304,225 (GRCm38) |
A1521V |
probably benign |
Het |
| Socs7 |
T |
G |
11: 97,373,107 (GRCm38) |
V275G |
possibly damaging |
Het |
| Spink11 |
G |
A |
18: 44,190,487 (GRCm38) |
P102S |
probably benign |
Het |
| Tacc3 |
A |
G |
5: 33,671,404 (GRCm38) |
N534D |
probably damaging |
Het |
| Tas2r115 |
T |
C |
6: 132,737,346 (GRCm38) |
Y214C |
probably damaging |
Het |
| Tcaf1 |
A |
T |
6: 42,673,520 (GRCm38) |
M875K |
probably benign |
Het |
| Ttc22 |
T |
A |
4: 106,622,672 (GRCm38) |
L41Q |
possibly damaging |
Het |
| Vasn |
T |
A |
16: 4,649,795 (GRCm38) |
C535* |
probably null |
Het |
| Vcan |
T |
A |
13: 89,689,737 (GRCm38) |
I2563F |
probably damaging |
Het |
| Vmn2r63 |
T |
G |
7: 42,926,873 (GRCm38) |
Q505H |
probably damaging |
Het |
| Vmn2r65 |
T |
G |
7: 84,943,573 (GRCm38) |
Q475H |
probably damaging |
Het |
| Zbtb43 |
T |
C |
2: 33,454,520 (GRCm38) |
Y231C |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,266 (GRCm38) |
V931A |
probably benign |
Het |
|
| Other mutations in Mical2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00886:Mical2
|
APN |
7 |
112,315,072 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00934:Mical2
|
APN |
7 |
112,349,403 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00941:Mical2
|
APN |
7 |
112,321,445 (GRCm38) |
splice site |
probably benign |
|
|
IGL01020:Mical2
|
APN |
7 |
112,315,076 (GRCm38) |
splice site |
probably benign |
|
|
IGL01395:Mical2
|
APN |
7 |
112,323,585 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01658:Mical2
|
APN |
7 |
112,314,998 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02040:Mical2
|
APN |
7 |
112,311,406 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02388:Mical2
|
APN |
7 |
112,335,413 (GRCm38) |
missense |
probably benign |
|
|
IGL02551:Mical2
|
APN |
7 |
112,323,990 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02578:Mical2
|
APN |
7 |
112,351,373 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02751:Mical2
|
APN |
7 |
112,332,036 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0101:Mical2
|
UTSW |
7 |
112,336,867 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R0504:Mical2
|
UTSW |
7 |
112,271,317 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0594:Mical2
|
UTSW |
7 |
112,318,450 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0609:Mical2
|
UTSW |
7 |
112,321,440 (GRCm38) |
splice site |
probably null |
|
|
R1542:Mical2
|
UTSW |
7 |
112,309,468 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1740:Mical2
|
UTSW |
7 |
112,333,836 (GRCm38) |
missense |
probably benign |
|
|
R1855:Mical2
|
UTSW |
7 |
112,345,282 (GRCm38) |
missense |
probably benign |
0.21 |
|
R2086:Mical2
|
UTSW |
7 |
112,318,603 (GRCm38) |
missense |
probably benign |
0.31 |
|
R2418:Mical2
|
UTSW |
7 |
112,320,734 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3053:Mical2
|
UTSW |
7 |
112,311,423 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4308:Mical2
|
UTSW |
7 |
112,331,992 (GRCm38) |
missense |
probably benign |
0.27 |
|
R4663:Mical2
|
UTSW |
7 |
112,328,677 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R4868:Mical2
|
UTSW |
7 |
112,318,624 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4902:Mical2
|
UTSW |
7 |
112,336,900 (GRCm38) |
missense |
probably benign |
|
|
R5112:Mical2
|
UTSW |
7 |
112,320,611 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5487:Mical2
|
UTSW |
7 |
112,320,635 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5563:Mical2
|
UTSW |
7 |
112,314,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5817:Mical2
|
UTSW |
7 |
112,323,659 (GRCm38) |
missense |
probably benign |
|
|
R5987:Mical2
|
UTSW |
7 |
112,334,948 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6087:Mical2
|
UTSW |
7 |
112,318,485 (GRCm38) |
nonsense |
probably null |
|
|
R6209:Mical2
|
UTSW |
7 |
112,324,086 (GRCm38) |
splice site |
probably null |
|
|
R6311:Mical2
|
UTSW |
7 |
112,323,558 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6319:Mical2
|
UTSW |
7 |
112,328,677 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R6578:Mical2
|
UTSW |
7 |
112,311,445 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6782:Mical2
|
UTSW |
7 |
112,346,761 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7061:Mical2
|
UTSW |
7 |
112,346,801 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7147:Mical2
|
UTSW |
7 |
112,323,603 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R7260:Mical2
|
UTSW |
7 |
112,319,794 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7266:Mical2
|
UTSW |
7 |
112,303,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7391:Mical2
|
UTSW |
7 |
112,320,609 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7724:Mical2
|
UTSW |
7 |
112,323,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7747:Mical2
|
UTSW |
7 |
112,333,839 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7818:Mical2
|
UTSW |
7 |
112,345,307 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8022:Mical2
|
UTSW |
7 |
112,303,767 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8429:Mical2
|
UTSW |
7 |
112,345,253 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8505:Mical2
|
UTSW |
7 |
112,319,800 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8532:Mical2
|
UTSW |
7 |
112,318,544 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8862:Mical2
|
UTSW |
7 |
112,311,367 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8988:Mical2
|
UTSW |
7 |
112,311,454 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R9123:Mical2
|
UTSW |
7 |
112,271,382 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9127:Mical2
|
UTSW |
7 |
112,271,382 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9128:Mical2
|
UTSW |
7 |
112,271,382 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9129:Mical2
|
UTSW |
7 |
112,271,382 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9187:Mical2
|
UTSW |
7 |
112,303,590 (GRCm38) |
nonsense |
probably null |
|
|
R9310:Mical2
|
UTSW |
7 |
112,351,713 (GRCm38) |
missense |
probably benign |
0.45 |
|
R9399:Mical2
|
UTSW |
7 |
112,346,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9500:Mical2
|
UTSW |
7 |
112,336,847 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9652:Mical2
|
UTSW |
7 |
112,346,789 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9657:Mical2
|
UTSW |
7 |
112,322,599 (GRCm38) |
missense |
probably benign |
0.37 |
|
R9756:Mical2
|
UTSW |
7 |
112,303,721 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9789:Mical2
|
UTSW |
7 |
112,346,789 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF008:Mical2
|
UTSW |
7 |
112,323,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0062:Mical2
|
UTSW |
7 |
112,346,843 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCGAACCATGGGAGAGAATG -3'
(R):5'- GGCCATAGCAACAGGATTGG -3'
Sequencing Primer
(F):5'- TGAAGATGAGAAGCAGGCGC -3'
(R):5'- CCATAGCAACAGGATTGGCTTCAAG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation