Incidental Mutation 'R8024:Myom3'
| ID |
617571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myom3
|
| Ensembl Gene |
ENSMUSG00000037139 |
| Gene Name |
myomesin family, member 3 |
| Synonyms |
8430427K15Rik |
| MMRRC Submission |
067463-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R8024 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
135487026-135542875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 135529059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 1132
(V1132I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105854]
|
| AlphaFold |
A2ABU4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105854
AA Change: V1132I
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: V1132I
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,760,713 (GRCm39) |
N1257Y |
probably benign |
Het |
| 2310057J18Rik |
A |
T |
10: 28,858,591 (GRCm39) |
Y133* |
probably null |
Het |
| 2310057J18Rik |
A |
C |
10: 28,862,213 (GRCm39) |
S26A |
possibly damaging |
Het |
| 9930012K11Rik |
G |
T |
14: 70,394,116 (GRCm39) |
P220T |
probably damaging |
Het |
| Adam1b |
A |
C |
5: 121,638,986 (GRCm39) |
S686R |
probably benign |
Het |
| Adam8 |
T |
C |
7: 139,567,489 (GRCm39) |
D418G |
probably damaging |
Het |
| Adcy8 |
A |
G |
15: 64,792,095 (GRCm39) |
L287P |
probably damaging |
Het |
| Adhfe1 |
T |
A |
1: 9,634,080 (GRCm39) |
M373K |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,438,106 (GRCm39) |
S1096G |
probably benign |
Het |
| Ankmy1 |
A |
G |
1: 92,812,716 (GRCm39) |
V531A |
probably benign |
Het |
| Ano3 |
C |
T |
2: 110,498,128 (GRCm39) |
E738K |
probably damaging |
Het |
| Ano4 |
T |
A |
10: 88,807,194 (GRCm39) |
I796F |
probably damaging |
Het |
| Apeh |
T |
C |
9: 107,969,790 (GRCm39) |
E190G |
probably benign |
Het |
| Atpsckmt |
T |
C |
15: 31,608,317 (GRCm39) |
Y123H |
probably damaging |
Het |
| Cadm3 |
A |
G |
1: 173,165,622 (GRCm39) |
L346P |
probably damaging |
Het |
| Ccdc9b |
A |
G |
2: 118,591,005 (GRCm39) |
|
probably null |
Het |
| Clec2e |
G |
A |
6: 129,071,388 (GRCm39) |
H150Y |
possibly damaging |
Het |
| Cnga4 |
A |
T |
7: 105,056,042 (GRCm39) |
N318Y |
probably damaging |
Het |
| Cnr2 |
T |
A |
4: 135,644,196 (GRCm39) |
F91L |
probably damaging |
Het |
| Diaph3 |
T |
A |
14: 86,893,835 (GRCm39) |
E1147V |
probably damaging |
Het |
| Elmo2 |
T |
C |
2: 165,133,775 (GRCm39) |
T738A |
unknown |
Het |
| Exoc4 |
T |
A |
6: 33,324,866 (GRCm39) |
W387R |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,315,237 (GRCm39) |
V1379A |
unknown |
Het |
| Frmd4a |
T |
C |
2: 4,608,513 (GRCm39) |
S794P |
probably damaging |
Het |
| Ftl1-ps1 |
A |
G |
13: 74,555,170 (GRCm39) |
T150A |
probably benign |
Het |
| Gm43517 |
A |
T |
12: 49,436,409 (GRCm39) |
|
probably benign |
Het |
| Gm5773 |
C |
T |
3: 93,680,475 (GRCm39) |
A49V |
probably benign |
Het |
| Helz |
T |
A |
11: 107,577,247 (GRCm39) |
L1867Q |
unknown |
Het |
| Il22ra1 |
A |
G |
4: 135,461,589 (GRCm39) |
H118R |
probably benign |
Het |
| Inf2 |
C |
T |
12: 112,575,336 (GRCm39) |
P856S |
unknown |
Het |
| Ints5 |
T |
A |
19: 8,873,504 (GRCm39) |
L488I |
probably damaging |
Het |
| Iqca1l |
A |
G |
5: 24,755,634 (GRCm39) |
M296T |
possibly damaging |
Het |
| Kifc1 |
G |
A |
17: 34,102,177 (GRCm39) |
R479C |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,202,708 (GRCm39) |
C289* |
probably null |
Het |
| Mael |
A |
G |
1: 166,054,196 (GRCm39) |
L196S |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,755,581 (GRCm39) |
S229R |
possibly damaging |
Het |
| Mroh9 |
T |
C |
1: 162,866,802 (GRCm39) |
N645D |
probably benign |
Het |
| Naalad2 |
T |
G |
9: 18,308,769 (GRCm39) |
|
probably benign |
Het |
| Ndufa13 |
A |
T |
8: 70,347,187 (GRCm39) |
L71H |
probably damaging |
Het |
| Nepro |
A |
T |
16: 44,551,778 (GRCm39) |
H212L |
probably benign |
Het |
| Nmd3 |
T |
A |
3: 69,637,298 (GRCm39) |
|
probably benign |
Het |
| Nox4 |
T |
A |
7: 86,954,118 (GRCm39) |
L141Q |
probably damaging |
Het |
| Or4a81 |
T |
C |
2: 89,619,390 (GRCm39) |
E102G |
probably benign |
Het |
| Or5p53 |
T |
C |
7: 107,533,645 (GRCm39) |
V306A |
probably benign |
Het |
| Or5p58 |
T |
A |
7: 107,694,496 (GRCm39) |
T94S |
probably benign |
Het |
| Or6c215 |
T |
G |
10: 129,637,812 (GRCm39) |
E194A |
probably damaging |
Het |
| Or8s2 |
T |
A |
15: 98,276,878 (GRCm39) |
M38L |
probably benign |
Het |
| Pfpl |
A |
G |
19: 12,407,570 (GRCm39) |
D607G |
possibly damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,802,921 (GRCm39) |
F233L |
possibly damaging |
Het |
| Prl6a1 |
A |
G |
13: 27,502,678 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
A |
T |
6: 23,042,750 (GRCm39) |
E2058V |
probably damaging |
Het |
| Rag1 |
A |
T |
2: 101,472,852 (GRCm39) |
N763K |
probably damaging |
Het |
| Rhbg |
A |
C |
3: 88,155,760 (GRCm39) |
D63E |
probably damaging |
Het |
| Rrm1 |
T |
A |
7: 102,106,472 (GRCm39) |
F330L |
probably benign |
Het |
| Scaf8 |
A |
T |
17: 3,209,568 (GRCm39) |
Q97L |
unknown |
Het |
| Sdr9c7 |
G |
A |
10: 127,734,751 (GRCm39) |
V80I |
probably benign |
Het |
| Slc18a1 |
A |
G |
8: 69,527,799 (GRCm39) |
V4A |
probably benign |
Het |
| Slco3a1 |
T |
A |
7: 74,204,218 (GRCm39) |
I41F |
probably benign |
Het |
| Slirp |
T |
C |
12: 87,494,370 (GRCm39) |
V45A |
probably damaging |
Het |
| Spata31 |
A |
T |
13: 65,070,618 (GRCm39) |
Q922L |
probably benign |
Het |
| Spg11 |
A |
G |
2: 121,927,802 (GRCm39) |
S661P |
possibly damaging |
Het |
| Stab2 |
G |
T |
10: 86,681,916 (GRCm39) |
T2495K |
probably benign |
Het |
| Supt16 |
A |
G |
14: 52,408,332 (GRCm39) |
I871T |
probably damaging |
Het |
| Sval2 |
A |
G |
6: 41,837,298 (GRCm39) |
Q9R |
probably damaging |
Het |
| Syngap1 |
A |
T |
17: 27,160,426 (GRCm39) |
M1L |
probably benign |
Het |
| Tfpi |
A |
T |
2: 84,284,266 (GRCm39) |
M62K |
possibly damaging |
Het |
| Tm4sf1 |
A |
T |
3: 57,195,186 (GRCm39) |
Y200* |
probably null |
Het |
| Tmc1 |
A |
T |
19: 20,878,181 (GRCm39) |
W105R |
probably damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,025,987 (GRCm39) |
E827G |
probably benign |
Het |
| Tollip |
T |
C |
7: 141,446,563 (GRCm39) |
I33V |
probably benign |
Het |
| Unc80 |
T |
A |
1: 66,645,803 (GRCm39) |
V1493D |
possibly damaging |
Het |
| Vmn2r6 |
G |
A |
3: 64,467,245 (GRCm39) |
R85W |
probably benign |
Het |
| Vwa5a |
C |
A |
9: 38,647,316 (GRCm39) |
S565* |
probably null |
Het |
| Xbp1 |
T |
A |
11: 5,471,910 (GRCm39) |
V12D |
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 |
|
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 |
|
|
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'- GTTTAAGAAGACCCCAGGCC -3'
(R):5'- TATGCACACTTTCTCCCAGGG -3'
Sequencing Primer
(F):5'- AAGACCCCAGGCCCCTTG -3'
(R):5'- ACTTTCTCCCAGGGGCCAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation