Incidental Mutation 'IGL01939:Myom3'
ID |
180797 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Myom3
|
Ensembl Gene |
ENSMUSG00000037139 |
Gene Name |
myomesin family, member 3 |
Synonyms |
8430427K15Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
IGL01939
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
135487026-135542875 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 135492900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 150
(S150P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101480
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105854]
|
AlphaFold |
A2ABU4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105854
AA Change: S150P
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000101480 Gene: ENSMUSG00000037139 AA Change: S150P
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
38 |
N/A |
INTRINSIC |
low complexity region
|
53 |
83 |
N/A |
INTRINSIC |
coiled coil region
|
119 |
150 |
N/A |
INTRINSIC |
IG
|
160 |
248 |
7.64e-9 |
SMART |
IG
|
277 |
364 |
1.37e-1 |
SMART |
FN3
|
374 |
457 |
4.8e-13 |
SMART |
FN3
|
502 |
585 |
9.99e-11 |
SMART |
FN3
|
603 |
684 |
1.74e-10 |
SMART |
FN3
|
702 |
785 |
2.5e-11 |
SMART |
FN3
|
804 |
887 |
7.73e-17 |
SMART |
Blast:IG_like
|
904 |
1098 |
1e-100 |
BLAST |
PDB:2JTD|A
|
1000 |
1105 |
4e-25 |
PDB |
low complexity region
|
1107 |
1119 |
N/A |
INTRINSIC |
IG
|
1127 |
1209 |
4.46e-1 |
SMART |
IGc2
|
1349 |
1416 |
1.4e-7 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
G |
T |
4: 129,885,925 (GRCm39) |
D22Y |
probably damaging |
Het |
Ak7 |
T |
C |
12: 105,701,183 (GRCm39) |
V242A |
probably benign |
Het |
Cacna1b |
T |
C |
2: 24,551,769 (GRCm39) |
N1127S |
probably damaging |
Het |
Cacnb2 |
A |
T |
2: 14,976,380 (GRCm39) |
H267L |
probably benign |
Het |
Ces1b |
C |
T |
8: 93,806,059 (GRCm39) |
G61R |
probably damaging |
Het |
Cgnl1 |
T |
A |
9: 71,632,286 (GRCm39) |
D355V |
probably damaging |
Het |
Col24a1 |
T |
C |
3: 145,021,005 (GRCm39) |
S459P |
probably damaging |
Het |
Crygd |
T |
C |
1: 65,101,185 (GRCm39) |
T137A |
probably benign |
Het |
Dctn4 |
T |
A |
18: 60,677,202 (GRCm39) |
M174K |
probably benign |
Het |
Evi5 |
A |
G |
5: 107,964,790 (GRCm39) |
|
probably benign |
Het |
Fat2 |
T |
G |
11: 55,174,806 (GRCm39) |
D1969A |
probably benign |
Het |
Fcrl5 |
A |
T |
3: 87,353,606 (GRCm39) |
E317V |
probably damaging |
Het |
Foxf2 |
G |
T |
13: 31,810,697 (GRCm39) |
S212I |
probably damaging |
Het |
Gm21759 |
T |
A |
5: 8,230,685 (GRCm39) |
|
probably benign |
Het |
Gm5414 |
A |
G |
15: 101,534,105 (GRCm39) |
|
probably benign |
Het |
Gm7275 |
T |
C |
16: 47,893,946 (GRCm39) |
|
noncoding transcript |
Het |
Hspa9 |
T |
C |
18: 35,071,761 (GRCm39) |
E613G |
possibly damaging |
Het |
Il1rl1 |
A |
G |
1: 40,501,168 (GRCm39) |
I515V |
possibly damaging |
Het |
Ins1 |
G |
T |
19: 52,253,173 (GRCm39) |
A38S |
probably damaging |
Het |
Klhl31 |
A |
G |
9: 77,562,488 (GRCm39) |
N418D |
probably benign |
Het |
Magi3 |
T |
C |
3: 103,961,778 (GRCm39) |
K417E |
probably damaging |
Het |
Msh4 |
A |
G |
3: 153,563,226 (GRCm39) |
Y823H |
probably damaging |
Het |
Myo6 |
T |
A |
9: 80,168,100 (GRCm39) |
D421E |
probably damaging |
Het |
Nectin1 |
C |
T |
9: 43,703,871 (GRCm39) |
|
probably benign |
Het |
Nkx1-2 |
A |
T |
7: 132,201,203 (GRCm39) |
I18N |
probably damaging |
Het |
Or4s2b |
A |
G |
2: 88,509,077 (GRCm39) |
T286A |
probably damaging |
Het |
Or5b113 |
A |
T |
19: 13,342,807 (GRCm39) |
I272F |
probably benign |
Het |
Or8g33 |
A |
C |
9: 39,337,634 (GRCm39) |
H244Q |
probably damaging |
Het |
Or9g4 |
T |
C |
2: 85,505,285 (GRCm39) |
D70G |
probably damaging |
Het |
Pde8b |
T |
C |
13: 95,232,232 (GRCm39) |
R237G |
probably damaging |
Het |
Pp2d1 |
G |
A |
17: 53,822,167 (GRCm39) |
L300F |
probably damaging |
Het |
Ptpn21 |
A |
T |
12: 98,655,420 (GRCm39) |
Y516N |
probably damaging |
Het |
Ptprm |
T |
A |
17: 67,370,158 (GRCm39) |
|
probably benign |
Het |
Rabggtb |
A |
G |
3: 153,617,650 (GRCm39) |
V16A |
probably damaging |
Het |
Rangap1 |
A |
T |
15: 81,604,864 (GRCm39) |
C82S |
probably damaging |
Het |
Rasal2 |
T |
C |
1: 157,003,480 (GRCm39) |
E393G |
probably damaging |
Het |
Rasgrf1 |
A |
T |
9: 89,856,889 (GRCm39) |
E449V |
probably damaging |
Het |
Rrp12 |
A |
T |
19: 41,859,334 (GRCm39) |
H1143Q |
probably damaging |
Het |
Scap |
T |
C |
9: 110,208,549 (GRCm39) |
I530T |
probably benign |
Het |
Sel1l |
T |
A |
12: 91,783,021 (GRCm39) |
Q482L |
probably damaging |
Het |
Serpinb9b |
T |
C |
13: 33,223,648 (GRCm39) |
M280T |
probably damaging |
Het |
Slc39a10 |
T |
A |
1: 46,871,895 (GRCm39) |
H348L |
probably benign |
Het |
Slc7a2 |
T |
C |
8: 41,367,120 (GRCm39) |
L542P |
possibly damaging |
Het |
Tas1r2 |
A |
T |
4: 139,396,488 (GRCm39) |
Q609L |
probably damaging |
Het |
Tbc1d14 |
A |
T |
5: 36,665,781 (GRCm39) |
|
probably benign |
Het |
Tfb2m |
A |
G |
1: 179,365,262 (GRCm39) |
|
probably null |
Het |
Tpo |
T |
C |
12: 30,134,646 (GRCm39) |
T771A |
possibly damaging |
Het |
Tpr |
G |
A |
1: 150,289,496 (GRCm39) |
R609H |
possibly damaging |
Het |
Usp34 |
T |
A |
11: 23,295,141 (GRCm39) |
|
probably benign |
Het |
Vmn1r193 |
G |
T |
13: 22,403,893 (GRCm39) |
S33* |
probably null |
Het |
Vmn2r104 |
A |
C |
17: 20,250,187 (GRCm39) |
S695A |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r24 |
A |
G |
6: 123,764,404 (GRCm39) |
D427G |
probably benign |
Het |
Zfp362 |
A |
G |
4: 128,680,846 (GRCm39) |
S160P |
probably benign |
Het |
|
Other mutations in Myom3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00543:Myom3
|
APN |
4 |
135,489,882 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01490:Myom3
|
APN |
4 |
135,538,089 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL01931:Myom3
|
APN |
4 |
135,516,950 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01935:Myom3
|
APN |
4 |
135,515,692 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01981:Myom3
|
APN |
4 |
135,513,160 (GRCm39) |
nonsense |
probably null |
|
IGL01985:Myom3
|
APN |
4 |
135,493,013 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02043:Myom3
|
APN |
4 |
135,497,986 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02477:Myom3
|
APN |
4 |
135,506,679 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02733:Myom3
|
APN |
4 |
135,541,614 (GRCm39) |
nonsense |
probably null |
|
IGL03253:Myom3
|
APN |
4 |
135,510,408 (GRCm39) |
missense |
possibly damaging |
0.85 |
BB008:Myom3
|
UTSW |
4 |
135,516,947 (GRCm39) |
missense |
probably benign |
|
BB018:Myom3
|
UTSW |
4 |
135,516,947 (GRCm39) |
missense |
probably benign |
|
R0359:Myom3
|
UTSW |
4 |
135,505,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R0525:Myom3
|
UTSW |
4 |
135,492,237 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0665:Myom3
|
UTSW |
4 |
135,492,237 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0668:Myom3
|
UTSW |
4 |
135,492,237 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0690:Myom3
|
UTSW |
4 |
135,515,737 (GRCm39) |
splice site |
probably benign |
|
R1235:Myom3
|
UTSW |
4 |
135,516,854 (GRCm39) |
missense |
probably benign |
0.09 |
R1692:Myom3
|
UTSW |
4 |
135,502,862 (GRCm39) |
missense |
probably benign |
0.00 |
R1793:Myom3
|
UTSW |
4 |
135,538,066 (GRCm39) |
missense |
probably benign |
0.42 |
R1859:Myom3
|
UTSW |
4 |
135,506,707 (GRCm39) |
missense |
probably benign |
0.01 |
R1863:Myom3
|
UTSW |
4 |
135,505,348 (GRCm39) |
missense |
probably benign |
|
R1876:Myom3
|
UTSW |
4 |
135,506,711 (GRCm39) |
missense |
probably benign |
0.01 |
R2103:Myom3
|
UTSW |
4 |
135,503,723 (GRCm39) |
missense |
probably benign |
0.05 |
R2152:Myom3
|
UTSW |
4 |
135,530,544 (GRCm39) |
missense |
probably benign |
0.05 |
R4633:Myom3
|
UTSW |
4 |
135,503,010 (GRCm39) |
missense |
probably benign |
0.00 |
R4726:Myom3
|
UTSW |
4 |
135,534,586 (GRCm39) |
splice site |
probably null |
|
R4884:Myom3
|
UTSW |
4 |
135,510,366 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4943:Myom3
|
UTSW |
4 |
135,541,585 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5040:Myom3
|
UTSW |
4 |
135,516,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R5151:Myom3
|
UTSW |
4 |
135,516,883 (GRCm39) |
missense |
probably benign |
0.01 |
R5158:Myom3
|
UTSW |
4 |
135,492,897 (GRCm39) |
missense |
probably damaging |
0.99 |
R5169:Myom3
|
UTSW |
4 |
135,502,889 (GRCm39) |
missense |
probably benign |
0.01 |
R5239:Myom3
|
UTSW |
4 |
135,528,303 (GRCm39) |
splice site |
probably benign |
|
R6130:Myom3
|
UTSW |
4 |
135,489,882 (GRCm39) |
missense |
probably benign |
|
R6253:Myom3
|
UTSW |
4 |
135,528,314 (GRCm39) |
missense |
probably benign |
0.00 |
R6253:Myom3
|
UTSW |
4 |
135,513,203 (GRCm39) |
missense |
probably benign |
0.07 |
R6331:Myom3
|
UTSW |
4 |
135,503,688 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6346:Myom3
|
UTSW |
4 |
135,533,362 (GRCm39) |
missense |
probably benign |
0.00 |
R6502:Myom3
|
UTSW |
4 |
135,489,824 (GRCm39) |
start gained |
probably benign |
|
R6613:Myom3
|
UTSW |
4 |
135,539,770 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6899:Myom3
|
UTSW |
4 |
135,530,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R6969:Myom3
|
UTSW |
4 |
135,528,371 (GRCm39) |
missense |
probably damaging |
0.98 |
R7088:Myom3
|
UTSW |
4 |
135,530,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R7159:Myom3
|
UTSW |
4 |
135,536,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R7203:Myom3
|
UTSW |
4 |
135,522,490 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7397:Myom3
|
UTSW |
4 |
135,510,429 (GRCm39) |
missense |
probably damaging |
0.98 |
R7453:Myom3
|
UTSW |
4 |
135,528,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R7815:Myom3
|
UTSW |
4 |
135,528,674 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7931:Myom3
|
UTSW |
4 |
135,516,947 (GRCm39) |
missense |
probably benign |
|
R7939:Myom3
|
UTSW |
4 |
135,534,589 (GRCm39) |
critical splice donor site |
probably null |
|
R8024:Myom3
|
UTSW |
4 |
135,529,059 (GRCm39) |
missense |
probably benign |
0.02 |
R8167:Myom3
|
UTSW |
4 |
135,534,504 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8188:Myom3
|
UTSW |
4 |
135,507,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R8709:Myom3
|
UTSW |
4 |
135,523,607 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8745:Myom3
|
UTSW |
4 |
135,522,509 (GRCm39) |
critical splice donor site |
probably null |
|
R8890:Myom3
|
UTSW |
4 |
135,541,565 (GRCm39) |
missense |
probably benign |
0.30 |
R8922:Myom3
|
UTSW |
4 |
135,492,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R8984:Myom3
|
UTSW |
4 |
135,515,255 (GRCm39) |
missense |
|
|
R9090:Myom3
|
UTSW |
4 |
135,505,479 (GRCm39) |
missense |
probably benign |
0.00 |
R9178:Myom3
|
UTSW |
4 |
135,506,710 (GRCm39) |
missense |
probably benign |
0.00 |
R9235:Myom3
|
UTSW |
4 |
135,541,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R9271:Myom3
|
UTSW |
4 |
135,505,479 (GRCm39) |
missense |
probably benign |
0.00 |
R9396:Myom3
|
UTSW |
4 |
135,513,199 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Myom3
|
UTSW |
4 |
135,492,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-05-07 |