Incidental Mutation 'R1680:Mical3'
ID |
188411 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mical3
|
Ensembl Gene |
ENSMUSG00000051586 |
Gene Name |
microtubule associated monooxygenase, calponin and LIM domain containing 3 |
Synonyms |
C130040D16Rik, MICAL-3 |
MMRRC Submission |
039716-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R1680 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
120908668-121107959 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120936604 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 1307
(S1307R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146544
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207889]
|
AlphaFold |
Q8CJ19 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000098457
|
SMART Domains |
Protein: ENSMUSP00000096056 Gene: ENSMUSG00000051586
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
45 |
N/A |
INTRINSIC |
low complexity region
|
57 |
80 |
N/A |
INTRINSIC |
coiled coil region
|
114 |
148 |
N/A |
INTRINSIC |
low complexity region
|
191 |
225 |
N/A |
INTRINSIC |
coiled coil region
|
238 |
265 |
N/A |
INTRINSIC |
low complexity region
|
317 |
330 |
N/A |
INTRINSIC |
low complexity region
|
374 |
383 |
N/A |
INTRINSIC |
low complexity region
|
548 |
562 |
N/A |
INTRINSIC |
low complexity region
|
582 |
592 |
N/A |
INTRINSIC |
low complexity region
|
625 |
637 |
N/A |
INTRINSIC |
low complexity region
|
794 |
824 |
N/A |
INTRINSIC |
low complexity region
|
861 |
882 |
N/A |
INTRINSIC |
low complexity region
|
911 |
929 |
N/A |
INTRINSIC |
low complexity region
|
950 |
962 |
N/A |
INTRINSIC |
DUF3585
|
968 |
1110 |
1.39e-65 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124669
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142924
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150503
|
SMART Domains |
Protein: ENSMUSP00000115131 Gene: ENSMUSG00000051586
Domain | Start | End | E-Value | Type |
SCOP:d1bjt__
|
41 |
141 |
8e-3 |
SMART |
coiled coil region
|
192 |
219 |
N/A |
INTRINSIC |
low complexity region
|
271 |
284 |
N/A |
INTRINSIC |
low complexity region
|
328 |
337 |
N/A |
INTRINSIC |
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
low complexity region
|
536 |
546 |
N/A |
INTRINSIC |
low complexity region
|
579 |
591 |
N/A |
INTRINSIC |
low complexity region
|
748 |
778 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151602
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203013
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207889
AA Change: S1307R
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000212333
AA Change: S435R
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
C |
G |
10: 100,439,390 (GRCm39) |
P187R |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,987,327 (GRCm39) |
H2870Q |
probably benign |
Het |
Arhgef33 |
C |
T |
17: 80,655,080 (GRCm39) |
S95F |
probably damaging |
Het |
Atp1a2 |
T |
A |
1: 172,106,521 (GRCm39) |
D827V |
probably damaging |
Het |
Bcat1 |
T |
G |
6: 144,985,354 (GRCm39) |
D96A |
probably damaging |
Het |
Birc6 |
A |
T |
17: 74,855,741 (GRCm39) |
I184L |
probably benign |
Het |
Clca3b |
A |
T |
3: 144,543,585 (GRCm39) |
L415M |
probably damaging |
Het |
Clstn1 |
T |
C |
4: 149,728,183 (GRCm39) |
V617A |
probably benign |
Het |
Col22a1 |
G |
A |
15: 71,671,210 (GRCm39) |
A1050V |
unknown |
Het |
Col5a3 |
C |
T |
9: 20,695,964 (GRCm39) |
|
probably null |
Het |
Csmd3 |
G |
A |
15: 47,604,566 (GRCm39) |
T1059I |
probably damaging |
Het |
Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
Dnm3 |
A |
G |
1: 161,838,545 (GRCm39) |
V272A |
probably benign |
Het |
Dnmt3a |
A |
G |
12: 3,923,361 (GRCm39) |
Q187R |
probably damaging |
Het |
Dpp9 |
A |
G |
17: 56,497,103 (GRCm39) |
Y710H |
probably benign |
Het |
Eef1a2 |
A |
T |
2: 180,794,734 (GRCm39) |
M155K |
possibly damaging |
Het |
Entpd8 |
G |
A |
2: 24,974,036 (GRCm39) |
C331Y |
probably damaging |
Het |
Erc1 |
A |
C |
6: 119,552,722 (GRCm39) |
L1072R |
probably damaging |
Het |
Fhip2b |
T |
C |
14: 70,824,291 (GRCm39) |
Y482C |
probably damaging |
Het |
Gtf3c2 |
A |
G |
5: 31,331,212 (GRCm39) |
S155P |
probably damaging |
Het |
Gucy2c |
A |
G |
6: 136,699,491 (GRCm39) |
S617P |
probably damaging |
Het |
Ice1 |
T |
C |
13: 70,753,567 (GRCm39) |
R840G |
probably benign |
Het |
Il1rl2 |
T |
C |
1: 40,390,953 (GRCm39) |
Y299H |
possibly damaging |
Het |
Ints7 |
T |
G |
1: 191,353,274 (GRCm39) |
|
probably null |
Het |
Ireb2 |
C |
T |
9: 54,788,802 (GRCm39) |
T92I |
probably damaging |
Het |
Itprid1 |
C |
T |
6: 55,945,751 (GRCm39) |
T824I |
probably damaging |
Het |
Kcnj8 |
A |
T |
6: 142,515,915 (GRCm39) |
L64* |
probably null |
Het |
Mapk8ip3 |
A |
G |
17: 25,119,985 (GRCm39) |
V983A |
probably damaging |
Het |
Mertk |
A |
G |
2: 128,643,556 (GRCm39) |
D985G |
probably benign |
Het |
Mtcl3 |
A |
T |
10: 29,072,835 (GRCm39) |
Q709L |
probably damaging |
Het |
Ncaph2 |
A |
G |
15: 89,248,825 (GRCm39) |
D222G |
probably benign |
Het |
Nf1 |
C |
A |
11: 79,441,824 (GRCm39) |
S295* |
probably null |
Het |
Nlrp12 |
T |
A |
7: 3,289,804 (GRCm39) |
D236V |
probably damaging |
Het |
Npnt |
A |
G |
3: 132,612,563 (GRCm39) |
V74A |
probably benign |
Het |
Oasl1 |
A |
G |
5: 115,074,003 (GRCm39) |
D304G |
probably damaging |
Het |
Or52i2 |
A |
G |
7: 102,319,940 (GRCm39) |
D271G |
possibly damaging |
Het |
Or7g12 |
A |
G |
9: 18,899,812 (GRCm39) |
H176R |
possibly damaging |
Het |
Or8g22 |
T |
C |
9: 38,958,296 (GRCm39) |
I140V |
probably benign |
Het |
Or8h8 |
C |
T |
2: 86,753,505 (GRCm39) |
V124I |
probably benign |
Het |
Patz1 |
A |
G |
11: 3,257,812 (GRCm39) |
K604E |
probably damaging |
Het |
Pcsk6 |
T |
A |
7: 65,684,998 (GRCm39) |
V793E |
probably benign |
Het |
Pla2g4d |
C |
T |
2: 120,108,231 (GRCm39) |
|
probably null |
Het |
Plxnc1 |
A |
C |
10: 94,677,413 (GRCm39) |
L938R |
probably benign |
Het |
Pou4f2 |
G |
T |
8: 79,161,460 (GRCm39) |
A381D |
probably damaging |
Het |
Prdm4 |
A |
G |
10: 85,735,087 (GRCm39) |
L685P |
possibly damaging |
Het |
Pxn |
T |
A |
5: 115,690,206 (GRCm39) |
V383E |
probably damaging |
Het |
Rbl1 |
A |
G |
2: 157,016,703 (GRCm39) |
L632P |
probably damaging |
Het |
Rnf135 |
T |
A |
11: 80,087,707 (GRCm39) |
S219T |
possibly damaging |
Het |
Sdk2 |
T |
C |
11: 113,682,262 (GRCm39) |
D2039G |
possibly damaging |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Slc5a6 |
A |
G |
5: 31,199,988 (GRCm39) |
Y131H |
probably damaging |
Het |
Slc9a1 |
T |
C |
4: 133,145,391 (GRCm39) |
I492T |
probably damaging |
Het |
Spag5 |
A |
G |
11: 78,211,442 (GRCm39) |
K993E |
probably damaging |
Het |
Sptbn1 |
T |
G |
11: 30,109,371 (GRCm39) |
I75L |
possibly damaging |
Het |
Syngap1 |
T |
C |
17: 27,171,553 (GRCm39) |
S46P |
possibly damaging |
Het |
Tfcp2l1 |
T |
A |
1: 118,603,335 (GRCm39) |
F458I |
probably damaging |
Het |
Tmem67 |
A |
G |
4: 12,087,840 (GRCm39) |
V102A |
probably benign |
Het |
Tomm70a |
T |
C |
16: 56,942,324 (GRCm39) |
S34P |
unknown |
Het |
Txlnb |
G |
T |
10: 17,718,981 (GRCm39) |
G604V |
probably benign |
Het |
Ube2q1 |
A |
G |
3: 89,683,483 (GRCm39) |
T143A |
probably benign |
Het |
Unc80 |
C |
T |
1: 66,542,828 (GRCm39) |
R361* |
probably null |
Het |
Vcan |
T |
C |
13: 89,851,666 (GRCm39) |
D1098G |
probably benign |
Het |
Vmn1r176 |
T |
A |
7: 23,534,806 (GRCm39) |
T116S |
probably damaging |
Het |
Wdr81 |
C |
T |
11: 75,345,249 (GRCm39) |
R6K |
probably benign |
Het |
Zan |
T |
A |
5: 137,401,312 (GRCm39) |
T4136S |
unknown |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zfp606 |
A |
T |
7: 12,227,898 (GRCm39) |
H615L |
probably damaging |
Het |
Zp3r |
A |
T |
1: 130,510,617 (GRCm39) |
N433K |
probably benign |
Het |
|
Other mutations in Mical3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00569:Mical3
|
APN |
6 |
120,938,585 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL00718:Mical3
|
APN |
6 |
121,017,410 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00940:Mical3
|
APN |
6 |
120,999,371 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL00973:Mical3
|
APN |
6 |
120,911,885 (GRCm39) |
splice site |
probably benign |
|
IGL01503:Mical3
|
APN |
6 |
120,935,537 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01991:Mical3
|
APN |
6 |
120,912,172 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02794:Mical3
|
APN |
6 |
120,984,270 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02996:Mical3
|
APN |
6 |
120,935,519 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03105:Mical3
|
APN |
6 |
121,019,199 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03109:Mical3
|
APN |
6 |
120,986,085 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03236:Mical3
|
APN |
6 |
120,946,345 (GRCm39) |
missense |
probably benign |
0.00 |
P0028:Mical3
|
UTSW |
6 |
121,001,650 (GRCm39) |
missense |
probably benign |
0.33 |
R0244:Mical3
|
UTSW |
6 |
120,934,683 (GRCm39) |
missense |
probably benign |
0.00 |
R0494:Mical3
|
UTSW |
6 |
120,936,162 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0586:Mical3
|
UTSW |
6 |
121,006,602 (GRCm39) |
unclassified |
probably benign |
|
R1029:Mical3
|
UTSW |
6 |
120,911,639 (GRCm39) |
missense |
probably benign |
0.02 |
R1263:Mical3
|
UTSW |
6 |
120,929,430 (GRCm39) |
missense |
probably damaging |
0.99 |
R1507:Mical3
|
UTSW |
6 |
121,019,199 (GRCm39) |
missense |
probably benign |
0.36 |
R1527:Mical3
|
UTSW |
6 |
121,001,740 (GRCm39) |
missense |
probably damaging |
0.99 |
R1623:Mical3
|
UTSW |
6 |
121,001,768 (GRCm39) |
missense |
probably damaging |
0.99 |
R1697:Mical3
|
UTSW |
6 |
120,984,369 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1817:Mical3
|
UTSW |
6 |
121,019,196 (GRCm39) |
missense |
probably benign |
0.06 |
R1875:Mical3
|
UTSW |
6 |
121,019,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R1961:Mical3
|
UTSW |
6 |
120,959,568 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2004:Mical3
|
UTSW |
6 |
120,928,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R2093:Mical3
|
UTSW |
6 |
121,017,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R2141:Mical3
|
UTSW |
6 |
121,008,095 (GRCm39) |
splice site |
probably null |
|
R2142:Mical3
|
UTSW |
6 |
121,008,095 (GRCm39) |
splice site |
probably null |
|
R2257:Mical3
|
UTSW |
6 |
121,010,696 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2404:Mical3
|
UTSW |
6 |
120,936,789 (GRCm39) |
missense |
probably benign |
0.01 |
R2419:Mical3
|
UTSW |
6 |
120,936,884 (GRCm39) |
missense |
probably benign |
|
R2509:Mical3
|
UTSW |
6 |
121,011,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R3784:Mical3
|
UTSW |
6 |
120,998,298 (GRCm39) |
missense |
probably benign |
0.00 |
R4342:Mical3
|
UTSW |
6 |
120,911,799 (GRCm39) |
nonsense |
probably null |
|
R4343:Mical3
|
UTSW |
6 |
120,911,799 (GRCm39) |
nonsense |
probably null |
|
R4579:Mical3
|
UTSW |
6 |
120,935,660 (GRCm39) |
missense |
probably benign |
|
R4603:Mical3
|
UTSW |
6 |
120,911,799 (GRCm39) |
nonsense |
probably null |
|
R4605:Mical3
|
UTSW |
6 |
121,011,041 (GRCm39) |
nonsense |
probably null |
|
R4610:Mical3
|
UTSW |
6 |
120,911,799 (GRCm39) |
nonsense |
probably null |
|
R4611:Mical3
|
UTSW |
6 |
120,911,799 (GRCm39) |
nonsense |
probably null |
|
R4623:Mical3
|
UTSW |
6 |
120,938,586 (GRCm39) |
nonsense |
probably null |
|
R4669:Mical3
|
UTSW |
6 |
120,934,664 (GRCm39) |
missense |
probably damaging |
0.98 |
R4704:Mical3
|
UTSW |
6 |
120,935,649 (GRCm39) |
missense |
probably benign |
0.00 |
R4722:Mical3
|
UTSW |
6 |
121,015,486 (GRCm39) |
missense |
probably benign |
0.00 |
R4863:Mical3
|
UTSW |
6 |
121,010,748 (GRCm39) |
missense |
probably damaging |
0.99 |
R4878:Mical3
|
UTSW |
6 |
120,946,348 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4885:Mical3
|
UTSW |
6 |
120,912,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R4907:Mical3
|
UTSW |
6 |
120,984,259 (GRCm39) |
missense |
probably benign |
0.00 |
R5007:Mical3
|
UTSW |
6 |
121,015,030 (GRCm39) |
missense |
probably damaging |
0.98 |
R5299:Mical3
|
UTSW |
6 |
120,936,473 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5303:Mical3
|
UTSW |
6 |
120,936,941 (GRCm39) |
missense |
probably benign |
|
R5368:Mical3
|
UTSW |
6 |
120,936,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R5955:Mical3
|
UTSW |
6 |
121,010,711 (GRCm39) |
missense |
probably damaging |
0.99 |
R5970:Mical3
|
UTSW |
6 |
120,935,232 (GRCm39) |
nonsense |
probably null |
|
R6000:Mical3
|
UTSW |
6 |
120,998,281 (GRCm39) |
missense |
probably benign |
0.06 |
R6101:Mical3
|
UTSW |
6 |
121,010,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R6195:Mical3
|
UTSW |
6 |
120,993,796 (GRCm39) |
intron |
probably benign |
|
R6210:Mical3
|
UTSW |
6 |
121,017,478 (GRCm39) |
splice site |
probably null |
|
R6225:Mical3
|
UTSW |
6 |
120,935,684 (GRCm39) |
missense |
probably damaging |
0.98 |
R6258:Mical3
|
UTSW |
6 |
120,985,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R6260:Mical3
|
UTSW |
6 |
120,985,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R6349:Mical3
|
UTSW |
6 |
120,936,486 (GRCm39) |
missense |
probably benign |
|
R6352:Mical3
|
UTSW |
6 |
120,929,434 (GRCm39) |
missense |
probably damaging |
0.97 |
R6480:Mical3
|
UTSW |
6 |
121,011,236 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6704:Mical3
|
UTSW |
6 |
120,986,761 (GRCm39) |
intron |
probably benign |
|
R6783:Mical3
|
UTSW |
6 |
120,935,786 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6925:Mical3
|
UTSW |
6 |
120,936,351 (GRCm39) |
missense |
probably benign |
0.05 |
R6960:Mical3
|
UTSW |
6 |
120,935,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R7170:Mical3
|
UTSW |
6 |
120,950,694 (GRCm39) |
splice site |
probably null |
|
R7344:Mical3
|
UTSW |
6 |
121,013,505 (GRCm39) |
nonsense |
probably null |
|
R7414:Mical3
|
UTSW |
6 |
121,011,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R7455:Mical3
|
UTSW |
6 |
120,935,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R7649:Mical3
|
UTSW |
6 |
120,911,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R8236:Mical3
|
UTSW |
6 |
120,989,504 (GRCm39) |
missense |
|
|
R8286:Mical3
|
UTSW |
6 |
120,998,149 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8316:Mical3
|
UTSW |
6 |
120,911,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R8328:Mical3
|
UTSW |
6 |
120,912,138 (GRCm39) |
missense |
probably damaging |
0.98 |
R8354:Mical3
|
UTSW |
6 |
120,950,381 (GRCm39) |
missense |
probably damaging |
0.99 |
R8511:Mical3
|
UTSW |
6 |
121,015,513 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8687:Mical3
|
UTSW |
6 |
120,936,438 (GRCm39) |
missense |
probably benign |
0.19 |
R8728:Mical3
|
UTSW |
6 |
120,950,514 (GRCm39) |
missense |
probably damaging |
0.99 |
R8925:Mical3
|
UTSW |
6 |
120,984,325 (GRCm39) |
missense |
probably benign |
0.00 |
R8927:Mical3
|
UTSW |
6 |
120,984,325 (GRCm39) |
missense |
probably benign |
0.00 |
R8986:Mical3
|
UTSW |
6 |
120,991,822 (GRCm39) |
missense |
|
|
R9026:Mical3
|
UTSW |
6 |
120,986,848 (GRCm39) |
splice site |
probably benign |
|
R9415:Mical3
|
UTSW |
6 |
120,934,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R9515:Mical3
|
UTSW |
6 |
121,001,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R9720:Mical3
|
UTSW |
6 |
120,935,238 (GRCm39) |
missense |
probably damaging |
0.99 |
R9777:Mical3
|
UTSW |
6 |
120,959,529 (GRCm39) |
missense |
possibly damaging |
0.91 |
U24488:Mical3
|
UTSW |
6 |
120,978,457 (GRCm39) |
missense |
possibly damaging |
0.90 |
Z1177:Mical3
|
UTSW |
6 |
120,936,689 (GRCm39) |
missense |
possibly damaging |
0.71 |
Z1190:Mical3
|
UTSW |
6 |
120,998,319 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCAGAAGGCAGAGACCCTCATCC -3'
(R):5'- AGAAAGCTGTACTCTCGCCCATCC -3'
Sequencing Primer
(F):5'- ATCCTGAGGTGACTTGTCAAC -3'
(R):5'- CAGCTTACAGCCAGAGTCTC -3'
|
Posted On |
2014-05-09 |