Incidental Mutation 'R0525:Myom3'
| ID |
48834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myom3
|
| Ensembl Gene |
ENSMUSG00000037139 |
| Gene Name |
myomesin family, member 3 |
| Synonyms |
8430427K15Rik |
| MMRRC Submission |
038718-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R0525 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
135487026-135542875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135492237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 127
(D127G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105854]
|
| AlphaFold |
A2ABU4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105854
AA Change: D127G
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: D127G
| 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 |
|
| Meta Mutation Damage Score |
0.1174 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933440M02Rik |
T |
A |
7: 124,930,671 (GRCm39) |
|
noncoding transcript |
Het |
| A930002H24Rik |
A |
G |
17: 64,170,642 (GRCm39) |
W49R |
unknown |
Het |
| Abca13 |
G |
A |
11: 9,243,371 (GRCm39) |
V1745M |
probably damaging |
Het |
| Abca16 |
T |
G |
7: 120,065,033 (GRCm39) |
Y563* |
probably null |
Het |
| Acot12 |
C |
T |
13: 91,908,186 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
G |
A |
6: 85,564,742 (GRCm39) |
A39T |
unknown |
Het |
| Arid5b |
T |
C |
10: 67,933,676 (GRCm39) |
D742G |
possibly damaging |
Het |
| Atp1a4 |
G |
A |
1: 172,067,255 (GRCm39) |
|
probably benign |
Het |
| AU021092 |
T |
A |
16: 5,035,725 (GRCm39) |
E145V |
possibly damaging |
Het |
| Calr4 |
A |
T |
4: 109,099,461 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
T |
A |
17: 72,106,093 (GRCm39) |
|
probably null |
Het |
| Cnpy4 |
A |
T |
5: 138,190,878 (GRCm39) |
H180L |
probably benign |
Het |
| Cyp2j9 |
T |
C |
4: 96,467,802 (GRCm39) |
|
probably null |
Het |
| Dgkq |
A |
G |
5: 108,802,481 (GRCm39) |
S406P |
probably damaging |
Het |
| Dhx8 |
G |
A |
11: 101,654,754 (GRCm39) |
C1014Y |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,527,977 (GRCm39) |
Y3824C |
probably damaging |
Het |
| Donson |
A |
T |
16: 91,483,133 (GRCm39) |
H69Q |
probably damaging |
Het |
| Dppa3 |
A |
G |
6: 122,606,939 (GRCm39) |
E143G |
probably damaging |
Het |
| Drg1 |
A |
G |
11: 3,212,545 (GRCm39) |
F96L |
probably damaging |
Het |
| Dvl1 |
A |
C |
4: 155,940,052 (GRCm39) |
T395P |
probably damaging |
Het |
| Eftud2 |
A |
T |
11: 102,730,079 (GRCm39) |
V897D |
probably damaging |
Het |
| Enpp6 |
A |
G |
8: 47,535,478 (GRCm39) |
N341S |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,706,086 (GRCm39) |
F100L |
probably benign |
Het |
| Fas |
T |
C |
19: 34,296,727 (GRCm39) |
Y189H |
probably damaging |
Het |
| Galnt14 |
G |
T |
17: 73,852,076 (GRCm39) |
S114R |
probably damaging |
Het |
| Gfpt2 |
A |
G |
11: 49,720,602 (GRCm39) |
I528V |
probably benign |
Het |
| Glt6d1 |
A |
G |
2: 25,684,280 (GRCm39) |
V242A |
possibly damaging |
Het |
| Grm1 |
A |
T |
10: 10,594,953 (GRCm39) |
|
probably benign |
Het |
| Gskip |
G |
A |
12: 105,665,224 (GRCm39) |
A88T |
probably damaging |
Het |
| Gtpbp1 |
A |
G |
15: 79,597,648 (GRCm39) |
I348V |
probably benign |
Het |
| Hnrnpul1 |
C |
A |
7: 25,440,308 (GRCm39) |
R316L |
possibly damaging |
Het |
| Il34 |
T |
C |
8: 111,474,915 (GRCm39) |
E121G |
probably damaging |
Het |
| Lrr1 |
T |
C |
12: 69,215,685 (GRCm39) |
L19P |
probably damaging |
Het |
| Mat2b |
A |
G |
11: 40,573,496 (GRCm39) |
|
probably benign |
Het |
| Mettl21e |
T |
C |
1: 44,245,542 (GRCm39) |
K235E |
probably damaging |
Het |
| Mir124-2hg |
T |
A |
3: 17,839,693 (GRCm39) |
E126V |
possibly damaging |
Het |
| Myh15 |
A |
G |
16: 48,952,414 (GRCm39) |
K828R |
probably benign |
Het |
| Nek5 |
C |
A |
8: 22,569,093 (GRCm39) |
|
probably benign |
Het |
| Nudt7 |
A |
T |
8: 114,878,392 (GRCm39) |
|
probably null |
Het |
| Or10ag56 |
A |
T |
2: 87,139,693 (GRCm39) |
T187S |
probably benign |
Het |
| Or10d4c |
T |
G |
9: 39,558,767 (GRCm39) |
C248W |
probably damaging |
Het |
| Or1j4 |
T |
C |
2: 36,740,202 (GRCm39) |
L48P |
probably damaging |
Het |
| Or4a67 |
G |
A |
2: 88,597,658 (GRCm39) |
Q334* |
probably null |
Het |
| Or8k23 |
C |
T |
2: 86,186,619 (GRCm39) |
V36I |
probably benign |
Het |
| Phyhd1 |
A |
G |
2: 30,171,040 (GRCm39) |
H241R |
probably damaging |
Het |
| Pmch |
T |
C |
10: 87,927,262 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
A |
G |
4: 100,298,717 (GRCm39) |
S697G |
probably damaging |
Het |
| Rslcan18 |
A |
G |
13: 67,260,322 (GRCm39) |
V25A |
probably benign |
Het |
| Sema6b |
T |
C |
17: 56,433,630 (GRCm39) |
H426R |
probably damaging |
Het |
| Serpina3g |
T |
C |
12: 104,204,598 (GRCm39) |
F9S |
probably damaging |
Het |
| Serpinb12 |
T |
A |
1: 106,874,432 (GRCm39) |
H52Q |
probably benign |
Het |
| Sh3gl1 |
T |
C |
17: 56,324,873 (GRCm39) |
K294R |
probably benign |
Het |
| Sidt1 |
G |
T |
16: 44,079,809 (GRCm39) |
T615K |
possibly damaging |
Het |
| Slc16a4 |
A |
C |
3: 107,205,255 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
T |
A |
1: 93,199,696 (GRCm39) |
|
probably null |
Het |
| Sp2 |
A |
T |
11: 96,846,924 (GRCm39) |
|
probably benign |
Het |
| Steap1 |
T |
A |
5: 5,792,903 (GRCm39) |
I3F |
possibly damaging |
Het |
| Stxbp5l |
A |
T |
16: 36,950,159 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
G |
T |
8: 83,995,614 (GRCm39) |
V968F |
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Triobp |
T |
C |
15: 78,858,098 (GRCm39) |
L1233P |
possibly damaging |
Het |
| Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
| Trpc4ap |
A |
G |
2: 155,482,398 (GRCm39) |
F531L |
possibly damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,145,971 (GRCm39) |
P473L |
probably damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,088 (GRCm39) |
K213E |
probably benign |
Het |
| Vps8 |
G |
A |
16: 21,358,859 (GRCm39) |
|
probably null |
Het |
| Wnk1 |
A |
T |
6: 119,903,525 (GRCm39) |
S2563T |
probably damaging |
Het |
| Yrdc |
C |
G |
4: 124,745,559 (GRCm39) |
R3G |
probably damaging |
Het |
| Zfp287 |
A |
T |
11: 62,606,070 (GRCm39) |
V279E |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCTACAGGGAAGCTAAGCTGAG -3'
(R):5'- CACAGGGGTTACATAAAGAAGCCCG -3'
Sequencing Primer
(F):5'- AAGCTAAGCTGAGACGCC -3'
(R):5'- GTCTTCTAGACACTGGGAAGTCATC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation