Incidental Mutation 'R7815:Myom3'
ID |
601456 |
Institutional Source |
Beutler Lab
|
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 # |
R7815 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
135487026-135542875 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 135528674 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 1108
(K1108M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101480
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105854]
|
AlphaFold |
A2ABU4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105854
AA Change: K1108M
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000101480 Gene: ENSMUSG00000037139 AA Change: K1108M
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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
G |
19: 43,818,866 (GRCm39) |
D1285G |
probably benign |
Het |
Abcc9 |
A |
G |
6: 142,598,331 (GRCm39) |
V669A |
probably damaging |
Het |
Ajap1 |
C |
A |
4: 153,517,288 (GRCm39) |
G18C |
probably damaging |
Het |
Alms1 |
G |
T |
6: 85,592,340 (GRCm39) |
M397I |
probably benign |
Het |
Ampd2 |
A |
T |
3: 107,982,247 (GRCm39) |
M794K |
probably benign |
Het |
Ankrd35 |
A |
T |
3: 96,592,117 (GRCm39) |
Q801L |
probably damaging |
Het |
Casz1 |
A |
T |
4: 149,013,762 (GRCm39) |
I109F |
possibly damaging |
Het |
Ces5a |
G |
A |
8: 94,247,623 (GRCm39) |
S297F |
possibly damaging |
Het |
Col7a1 |
A |
G |
9: 108,798,633 (GRCm39) |
D1762G |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,375,446 (GRCm39) |
Y1077F |
probably benign |
Het |
Eef2k |
A |
G |
7: 120,457,793 (GRCm39) |
N51D |
probably benign |
Het |
Erbb4 |
A |
G |
1: 68,081,885 (GRCm39) |
Y1050H |
probably damaging |
Het |
Fpgt |
A |
T |
3: 154,792,289 (GRCm39) |
S579R |
probably benign |
Het |
Gabra4 |
T |
A |
5: 71,815,152 (GRCm39) |
M1L |
possibly damaging |
Het |
Galk2 |
G |
A |
2: 125,817,321 (GRCm39) |
S370N |
probably damaging |
Het |
Gpr155 |
T |
A |
2: 73,192,904 (GRCm39) |
T516S |
probably benign |
Het |
Homez |
T |
C |
14: 55,095,675 (GRCm39) |
N11S |
probably benign |
Het |
Hspg2 |
G |
A |
4: 137,239,775 (GRCm39) |
G494D |
probably damaging |
Het |
Htr3b |
C |
T |
9: 48,856,833 (GRCm39) |
R215Q |
probably benign |
Het |
Igfbp4 |
A |
G |
11: 98,932,654 (GRCm39) |
E111G |
probably benign |
Het |
Igkv8-19 |
T |
C |
6: 70,318,420 (GRCm39) |
T5A |
probably benign |
Het |
Insrr |
A |
G |
3: 87,716,002 (GRCm39) |
K566E |
probably damaging |
Het |
Iqsec3 |
A |
G |
6: 121,450,317 (GRCm39) |
V69A |
probably benign |
Het |
Kdm5d |
T |
C |
Y: 940,702 (GRCm39) |
V1071A |
probably damaging |
Het |
Kif28 |
A |
G |
1: 179,563,548 (GRCm39) |
C143R |
probably damaging |
Het |
Kpna6 |
T |
C |
4: 129,551,590 (GRCm39) |
M65V |
probably benign |
Het |
L3mbtl3 |
T |
C |
10: 26,156,276 (GRCm39) |
S669G |
unknown |
Het |
Man1a2 |
A |
T |
3: 100,563,495 (GRCm39) |
I50N |
probably damaging |
Het |
Map3k11 |
A |
T |
19: 5,745,667 (GRCm39) |
M356L |
possibly damaging |
Het |
Meioc |
A |
T |
11: 102,566,414 (GRCm39) |
N677Y |
probably damaging |
Het |
Nav1 |
C |
T |
1: 135,512,377 (GRCm39) |
E228K |
possibly damaging |
Het |
Ncapd3 |
G |
A |
9: 26,974,736 (GRCm39) |
W736* |
probably null |
Het |
Nfkb1 |
T |
C |
3: 135,309,552 (GRCm39) |
D514G |
probably damaging |
Het |
Nnt |
T |
A |
13: 119,494,111 (GRCm39) |
T657S |
possibly damaging |
Het |
Or4k5 |
A |
G |
14: 50,386,253 (GRCm39) |
F26S |
probably benign |
Het |
Or51b4 |
A |
G |
7: 103,530,992 (GRCm39) |
S153P |
probably benign |
Het |
Oser1 |
A |
T |
2: 163,253,336 (GRCm39) |
S58T |
possibly damaging |
Het |
Pcdha5 |
T |
A |
18: 37,094,556 (GRCm39) |
I355N |
possibly damaging |
Het |
Pllp |
C |
G |
8: 95,402,804 (GRCm39) |
G99A |
probably damaging |
Het |
Pram1 |
A |
G |
17: 33,861,106 (GRCm39) |
N509S |
probably benign |
Het |
Prkd1 |
A |
C |
12: 50,472,300 (GRCm39) |
N204K |
probably damaging |
Het |
Prss23 |
G |
A |
7: 89,159,253 (GRCm39) |
P272L |
probably damaging |
Het |
Pxdn |
T |
C |
12: 30,055,824 (GRCm39) |
F1057L |
probably damaging |
Het |
Rapgef5 |
T |
A |
12: 117,719,702 (GRCm39) |
S777R |
probably benign |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Rfx3 |
A |
T |
19: 27,803,448 (GRCm39) |
M265K |
probably benign |
Het |
S100a7a |
C |
A |
3: 90,565,119 (GRCm39) |
H105N |
probably benign |
Het |
Serpinb3b |
T |
C |
1: 107,084,625 (GRCm39) |
D132G |
probably damaging |
Het |
Sp7 |
T |
A |
15: 102,274,822 (GRCm39) |
|
probably benign |
Het |
Tacstd2 |
A |
G |
6: 67,512,140 (GRCm39) |
F184S |
possibly damaging |
Het |
Trdc |
C |
A |
14: 54,381,259 (GRCm39) |
|
probably benign |
Het |
Trpa1 |
T |
A |
1: 14,974,486 (GRCm39) |
H232L |
probably benign |
Het |
Trpc3 |
G |
T |
3: 36,709,294 (GRCm39) |
T394K |
probably benign |
Het |
Tuba3b |
G |
A |
6: 145,566,847 (GRCm39) |
V363I |
possibly damaging |
Het |
Tubb2a |
C |
A |
13: 34,258,962 (GRCm39) |
R276L |
probably benign |
Het |
Ubap2l |
A |
T |
3: 89,951,071 (GRCm39) |
L72* |
probably null |
Het |
Vps13a |
A |
T |
19: 16,702,936 (GRCm39) |
D672E |
probably damaging |
Het |
Wdr26 |
A |
G |
1: 181,036,638 (GRCm39) |
V166A |
probably benign |
Het |
Wwox |
T |
C |
8: 115,438,776 (GRCm39) |
S281P |
probably damaging |
Het |
Xirp2 |
G |
A |
2: 67,339,756 (GRCm39) |
G666R |
probably damaging |
Het |
Zfp131 |
T |
C |
13: 120,237,516 (GRCm39) |
K247E |
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 |
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 |
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'- ATGACAAGGGGTCCTACACC -3'
(R):5'- TTTAAGGAGACACTGGCCGG -3'
Sequencing Primer
(F):5'- AGATCACTCTCGCCCTGGTG -3'
(R):5'- GCCTCGGGCTTGGAAAATG -3'
|
Posted On |
2019-12-03 |