Incidental Mutation 'R5151:Myom3'
| ID |
395348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myom3
|
| Ensembl Gene |
ENSMUSG00000037139 |
| Gene Name |
myomesin family, member 3 |
| Synonyms |
8430427K15Rik |
| MMRRC Submission |
042733-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R5151 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
135487026-135542875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135516883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 818
(T818A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105854]
|
| AlphaFold |
A2ABU4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105854
AA Change: T818A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: T818A
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
T |
A |
15: 101,108,651 (GRCm39) |
C476S |
probably damaging |
Het |
| Agpat2 |
A |
G |
2: 26,487,218 (GRCm39) |
M120T |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,994,933 (GRCm39) |
T5406A |
probably benign |
Het |
| Ano4 |
A |
G |
10: 88,948,775 (GRCm39) |
F112L |
probably damaging |
Het |
| Arhgef11 |
T |
A |
3: 87,642,667 (GRCm39) |
V1371D |
probably damaging |
Het |
| Ascc3 |
A |
G |
10: 50,514,059 (GRCm39) |
N286S |
probably damaging |
Het |
| Ate1 |
T |
C |
7: 130,109,394 (GRCm39) |
K202E |
possibly damaging |
Het |
| Cacna1d |
T |
C |
14: 29,845,280 (GRCm39) |
T630A |
probably damaging |
Het |
| Ccdc187 |
G |
T |
2: 26,183,451 (GRCm39) |
T183N |
probably damaging |
Het |
| Cdk12 |
C |
T |
11: 98,140,749 (GRCm39) |
|
probably benign |
Het |
| Ciita |
A |
G |
16: 10,341,594 (GRCm39) |
N978S |
probably damaging |
Het |
| Cit |
A |
T |
5: 116,117,894 (GRCm39) |
Q1268L |
probably damaging |
Het |
| Csf2rb |
C |
T |
15: 78,224,781 (GRCm39) |
R180W |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,918,293 (GRCm39) |
I4079V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,659,929 (GRCm39) |
V693A |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,931,269 (GRCm39) |
V1428E |
probably benign |
Het |
| Dnhd1 |
C |
A |
7: 105,362,647 (GRCm39) |
Q3777K |
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,815,582 (GRCm39) |
Y1666H |
probably damaging |
Het |
| Dpysl3 |
C |
T |
18: 43,571,145 (GRCm39) |
G43D |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,758,670 (GRCm39) |
|
probably null |
Het |
| Erich4 |
T |
C |
7: 25,315,292 (GRCm39) |
|
probably benign |
Het |
| Fah |
T |
A |
7: 84,250,259 (GRCm39) |
D99V |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,404,851 (GRCm39) |
V534A |
possibly damaging |
Het |
| Fgf21 |
G |
C |
7: 45,263,456 (GRCm39) |
S207R |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,792,969 (GRCm39) |
P967S |
probably damaging |
Het |
| H2-T23 |
T |
C |
17: 36,343,230 (GRCm39) |
D49G |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,279,455 (GRCm39) |
N1819S |
probably null |
Het |
| Hoxc12 |
A |
G |
15: 102,846,881 (GRCm39) |
I258V |
probably damaging |
Het |
| Ighv1-22 |
T |
A |
12: 114,709,928 (GRCm39) |
T106S |
probably damaging |
Het |
| Inpp5j |
T |
C |
11: 3,452,270 (GRCm39) |
T327A |
probably damaging |
Het |
| Iqgap3 |
G |
T |
3: 88,025,067 (GRCm39) |
M689I |
possibly damaging |
Het |
| Itga7 |
G |
A |
10: 128,780,380 (GRCm39) |
G559S |
possibly damaging |
Het |
| Kcnq1 |
G |
T |
7: 142,979,749 (GRCm39) |
V632L |
probably benign |
Het |
| Lsamp |
T |
C |
16: 41,954,792 (GRCm39) |
V230A |
probably damaging |
Het |
| Mfn2 |
A |
T |
4: 147,970,785 (GRCm39) |
S305T |
probably benign |
Het |
| Nacc2 |
G |
A |
2: 25,980,365 (GRCm39) |
R24C |
probably damaging |
Het |
| Ntrk3 |
A |
C |
7: 77,897,048 (GRCm39) |
I663R |
probably damaging |
Het |
| Nyap1 |
A |
G |
5: 137,734,376 (GRCm39) |
V219A |
probably damaging |
Het |
| Obox3 |
A |
T |
7: 15,360,173 (GRCm39) |
N165K |
probably damaging |
Het |
| Or13a1 |
T |
A |
6: 116,470,765 (GRCm39) |
L65* |
probably null |
Het |
| Or13j1 |
A |
T |
4: 43,706,518 (GRCm39) |
F17I |
probably damaging |
Het |
| Or2y12 |
A |
G |
11: 49,426,242 (GRCm39) |
T77A |
possibly damaging |
Het |
| Or52e2 |
C |
A |
7: 102,804,593 (GRCm39) |
M120I |
probably damaging |
Het |
| Or55b4 |
G |
A |
7: 102,134,192 (GRCm39) |
T45I |
probably benign |
Het |
| Pask |
A |
T |
1: 93,262,350 (GRCm39) |
L170H |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,163,480 (GRCm39) |
I2146N |
possibly damaging |
Het |
| Pitpnm2 |
A |
T |
5: 124,274,449 (GRCm39) |
M220K |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,368,705 (GRCm39) |
D841G |
probably benign |
Het |
| Pla2g3 |
C |
T |
11: 3,440,827 (GRCm39) |
T264M |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,104,165 (GRCm39) |
Y278F |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,533,899 (GRCm39) |
L1579P |
probably damaging |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,516 (GRCm39) |
N479K |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,044,155 (GRCm39) |
H966R |
probably damaging |
Het |
| Rbm27 |
A |
G |
18: 42,471,509 (GRCm39) |
D996G |
probably damaging |
Het |
| Rif1 |
A |
C |
2: 52,010,321 (GRCm39) |
K2337T |
probably damaging |
Het |
| Rpl13a |
G |
T |
7: 44,775,385 (GRCm39) |
N442K |
probably benign |
Het |
| Serpini2 |
T |
A |
3: 75,153,820 (GRCm39) |
T380S |
possibly damaging |
Het |
| Setbp1 |
A |
T |
18: 78,901,214 (GRCm39) |
W818R |
probably damaging |
Het |
| Siae |
T |
A |
9: 37,542,869 (GRCm39) |
C185S |
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,572,659 (GRCm39) |
V674A |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,950,516 (GRCm39) |
M312K |
possibly damaging |
Het |
| Slc46a3 |
A |
G |
5: 147,823,566 (GRCm39) |
L92S |
probably damaging |
Het |
| Son |
T |
C |
16: 91,452,587 (GRCm39) |
S445P |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,090,484 (GRCm39) |
F351L |
probably benign |
Het |
| Tmed3 |
G |
A |
9: 89,581,825 (GRCm39) |
R213* |
probably null |
Het |
| Tmem248 |
T |
A |
5: 130,269,238 (GRCm39) |
L277H |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,838,757 (GRCm39) |
H698L |
probably benign |
Het |
| Ushbp1 |
A |
G |
8: 71,847,799 (GRCm39) |
V24A |
possibly damaging |
Het |
| Usp24 |
G |
T |
4: 106,256,309 (GRCm39) |
|
probably null |
Het |
| Vmn2r50 |
T |
G |
7: 9,786,970 (GRCm39) |
I46L |
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,365,208 (GRCm39) |
T423A |
probably benign |
Het |
| Zfp663 |
T |
A |
2: 165,195,113 (GRCm39) |
T369S |
probably benign |
Het |
| Zmynd11 |
T |
C |
13: 9,740,953 (GRCm39) |
T382A |
probably damaging |
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 |
|
IGL01939:Myom3
|
APN |
4 |
135,492,900 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAATCTGCCCAGCTTGTACAC -3'
(R):5'- AGAACGGTTTATGTTTGCCTGC -3'
Sequencing Primer
(F):5'- CAGCTTGTACACTGACTGCTGAG -3'
(R):5'- GTGTGCTTCTGCCAAATGC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation