Incidental Mutation 'R6969:Myom3'
| ID |
543369 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myom3
|
| Ensembl Gene |
ENSMUSG00000037139 |
| Gene Name |
myomesin family, member 3 |
| Synonyms |
8430427K15Rik |
| MMRRC Submission |
045079-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R6969 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
135487026-135542875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135528371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1072
(L1072P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105854]
|
| AlphaFold |
A2ABU4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105854
AA Change: L1072P
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: L1072P
| 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: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
A |
6: 86,958,317 (GRCm39) |
L800H |
unknown |
Het |
| Ap2b1 |
T |
A |
11: 83,280,552 (GRCm39) |
D788E |
probably damaging |
Het |
| Arfgef1 |
G |
T |
1: 10,223,904 (GRCm39) |
Q1465K |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,223,903 (GRCm39) |
Q1465R |
probably damaging |
Het |
| Arhgap9 |
G |
A |
10: 127,162,512 (GRCm39) |
E348K |
probably benign |
Het |
| B4galnt2 |
A |
T |
11: 95,782,756 (GRCm39) |
F19I |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,211,039 (GRCm39) |
I551N |
probably damaging |
Het |
| Ceacam16 |
A |
G |
7: 19,586,230 (GRCm39) |
*427Q |
probably null |
Het |
| Chd9 |
A |
C |
8: 91,705,542 (GRCm39) |
Q260P |
probably benign |
Het |
| Col16a1 |
A |
T |
4: 129,986,880 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
A |
T |
8: 17,266,805 (GRCm39) |
N40K |
possibly damaging |
Het |
| Depdc5 |
T |
G |
5: 33,141,204 (GRCm39) |
V1368G |
probably damaging |
Het |
| Dnah7b |
C |
A |
1: 46,397,398 (GRCm39) |
P3943Q |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,076,141 (GRCm39) |
Q691R |
probably damaging |
Het |
| Dusp10 |
T |
C |
1: 183,801,085 (GRCm39) |
L284P |
probably damaging |
Het |
| Efr3b |
A |
G |
12: 4,018,624 (GRCm39) |
V574A |
probably benign |
Het |
| Erc2 |
A |
T |
14: 27,620,553 (GRCm39) |
I60F |
probably damaging |
Het |
| Exoc2 |
A |
G |
13: 31,095,161 (GRCm39) |
V245A |
probably benign |
Het |
| Fasl |
G |
T |
1: 161,609,244 (GRCm39) |
F37L |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,941,212 (GRCm39) |
P1360S |
probably benign |
Het |
| Gpsm1 |
C |
T |
2: 26,230,555 (GRCm39) |
P502S |
probably benign |
Het |
| Gtpbp10 |
C |
A |
5: 5,605,331 (GRCm39) |
G124V |
probably damaging |
Het |
| Insm2 |
T |
C |
12: 55,646,963 (GRCm39) |
C236R |
probably damaging |
Het |
| Irf2bpl |
A |
G |
12: 86,929,468 (GRCm39) |
Y402H |
possibly damaging |
Het |
| Irx6 |
A |
G |
8: 93,403,958 (GRCm39) |
E175G |
probably damaging |
Het |
| Kcnh8 |
C |
T |
17: 53,184,971 (GRCm39) |
R418* |
probably null |
Het |
| Kif3c |
G |
A |
12: 3,416,114 (GRCm39) |
R45Q |
probably benign |
Het |
| Larp7-ps |
A |
G |
4: 92,079,826 (GRCm39) |
I54T |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,630,862 (GRCm39) |
F12S |
probably damaging |
Het |
| Lrba |
A |
T |
3: 86,526,897 (GRCm39) |
T156S |
probably benign |
Het |
| Lrrc19 |
G |
T |
4: 94,527,610 (GRCm39) |
N200K |
probably benign |
Het |
| Lrrc7 |
G |
A |
3: 157,862,550 (GRCm39) |
H1296Y |
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,212,578 (GRCm39) |
F661Y |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,351,593 (GRCm39) |
Y1893C |
probably benign |
Het |
| Mmd |
G |
C |
11: 90,148,362 (GRCm39) |
A15P |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,088,092 (GRCm39) |
F1903L |
probably benign |
Het |
| Or13l2 |
A |
T |
3: 97,318,118 (GRCm39) |
Y126* |
probably null |
Het |
| Or56a41 |
T |
C |
7: 104,740,463 (GRCm39) |
I128V |
probably benign |
Het |
| Or5bw2 |
G |
A |
7: 6,573,320 (GRCm39) |
C110Y |
probably damaging |
Het |
| Or7g35 |
A |
T |
9: 19,495,886 (GRCm39) |
T18S |
possibly damaging |
Het |
| Patl2 |
A |
T |
2: 121,959,410 (GRCm39) |
V18D |
possibly damaging |
Het |
| Pkn1 |
T |
C |
8: 84,410,055 (GRCm39) |
S395G |
probably damaging |
Het |
| Ptprm |
A |
G |
17: 67,219,413 (GRCm39) |
I726T |
possibly damaging |
Het |
| Rab3gap2 |
T |
C |
1: 184,968,209 (GRCm39) |
L187P |
probably damaging |
Het |
| Ric1 |
A |
T |
19: 29,563,182 (GRCm39) |
E535V |
probably damaging |
Het |
| Ripor3 |
T |
C |
2: 167,827,657 (GRCm39) |
K598R |
probably benign |
Het |
| Rnf40 |
A |
G |
7: 127,195,495 (GRCm39) |
E607G |
possibly damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Sbsn |
A |
G |
7: 30,452,616 (GRCm39) |
T544A |
probably benign |
Het |
| Scaf1 |
C |
A |
7: 44,657,253 (GRCm39) |
|
probably benign |
Het |
| Sec24a |
T |
C |
11: 51,591,643 (GRCm39) |
M1018V |
probably benign |
Het |
| Shmt1 |
C |
T |
11: 60,695,153 (GRCm39) |
A54T |
probably damaging |
Het |
| Slc39a14 |
C |
A |
14: 70,546,275 (GRCm39) |
V383F |
probably damaging |
Het |
| Slc5a2 |
A |
G |
7: 127,871,249 (GRCm39) |
T346A |
probably benign |
Het |
| Slco4a1 |
G |
A |
2: 180,106,601 (GRCm39) |
S261N |
probably benign |
Het |
| Smarcc1 |
C |
G |
9: 110,025,388 (GRCm39) |
S688R |
probably damaging |
Het |
| Sppl2b |
G |
A |
10: 80,700,959 (GRCm39) |
A314T |
probably damaging |
Het |
| Sptb |
A |
T |
12: 76,654,781 (GRCm39) |
V1513E |
probably damaging |
Het |
| Stx17 |
A |
T |
4: 48,140,462 (GRCm39) |
I56F |
probably damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,968,171 (GRCm39) |
Y424C |
probably damaging |
Het |
| Tgm3 |
A |
G |
2: 129,883,949 (GRCm39) |
K536E |
probably benign |
Het |
| Tti2 |
A |
G |
8: 31,644,329 (GRCm39) |
I309V |
possibly damaging |
Het |
| Tymp |
G |
A |
15: 89,258,251 (GRCm39) |
S334L |
probably benign |
Het |
| Unc13b |
T |
C |
4: 43,263,538 (GRCm39) |
F1587L |
possibly damaging |
Het |
| Vgf |
G |
T |
5: 137,060,507 (GRCm39) |
|
probably benign |
Het |
| Zfp59 |
T |
C |
7: 27,552,922 (GRCm39) |
S125P |
probably damaging |
Het |
| Zfp641 |
A |
T |
15: 98,188,448 (GRCm39) |
M144K |
possibly damaging |
Het |
| Zfp93 |
A |
T |
7: 23,974,806 (GRCm39) |
K264* |
probably null |
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 |
|
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 |
|
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'- TCAAGCAGGGAAACGCTAC -3'
(R):5'- GCTTAGCAGACCTTATAGGCC -3'
Sequencing Primer
(F):5'- CAGTCCCTGGAGGTTGACTG -3'
(R):5'- AGACCTTATAGGCCTGGGG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation