Incidental Mutation 'R8984:Myom3'
ID |
683873 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myom3
|
Ensembl Gene |
ENSMUSG00000037139 |
Gene Name |
myomesin family, member 3 |
Synonyms |
8430427K15Rik |
MMRRC Submission |
068817-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R8984 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
135487026-135542875 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 135515255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 716
(N716K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101480
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105854]
|
AlphaFold |
A2ABU4 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000101480 Gene: ENSMUSG00000037139 AA Change: N716K
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 |
0.1448 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd5 |
T |
A |
9: 122,180,880 (GRCm39) |
V10E |
probably benign |
Het |
Adss2 |
A |
T |
1: 177,601,280 (GRCm39) |
|
probably benign |
Het |
AI467606 |
A |
T |
7: 126,691,673 (GRCm39) |
I83F |
probably damaging |
Het |
Atn1 |
A |
T |
6: 124,723,923 (GRCm39) |
W437R |
unknown |
Het |
Atxn7l2 |
T |
C |
3: 108,116,290 (GRCm39) |
|
probably benign |
Het |
AU040320 |
T |
C |
4: 126,734,936 (GRCm39) |
F750S |
possibly damaging |
Het |
B3gnt6 |
A |
G |
7: 97,842,821 (GRCm39) |
S380P |
probably benign |
Het |
Bod1l |
T |
C |
5: 41,946,215 (GRCm39) |
Q3020R |
probably damaging |
Het |
Borcs6 |
A |
T |
11: 68,950,828 (GRCm39) |
I69F |
probably benign |
Het |
Brd7 |
T |
A |
8: 89,081,340 (GRCm39) |
M170L |
probably benign |
Het |
Ccdc191 |
T |
A |
16: 43,710,581 (GRCm39) |
|
probably benign |
Het |
Cit |
C |
T |
5: 116,064,534 (GRCm39) |
T472I |
possibly damaging |
Het |
Ddx25 |
G |
T |
9: 35,468,685 (GRCm39) |
D57E |
probably benign |
Het |
Dnah7a |
A |
T |
1: 53,674,436 (GRCm39) |
L447* |
probably null |
Het |
Epb41l3 |
A |
G |
17: 69,554,641 (GRCm39) |
D247G |
probably damaging |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Etaa1 |
A |
T |
11: 17,890,254 (GRCm39) |
V869E |
probably damaging |
Het |
Exoc8 |
T |
A |
8: 125,622,769 (GRCm39) |
I533F |
probably benign |
Het |
Fam117a |
A |
G |
11: 95,254,823 (GRCm39) |
|
probably null |
Het |
Fam222a |
C |
T |
5: 114,749,092 (GRCm39) |
T96I |
possibly damaging |
Het |
Farsa |
C |
T |
8: 85,594,228 (GRCm39) |
T326I |
probably damaging |
Het |
Fkbp1b |
T |
A |
12: 4,891,401 (GRCm39) |
D12V |
probably damaging |
Het |
Garin3 |
C |
A |
11: 46,295,695 (GRCm39) |
Y22* |
probably null |
Het |
Gc |
C |
T |
5: 89,589,421 (GRCm39) |
|
probably null |
Het |
Git2 |
T |
C |
5: 114,868,256 (GRCm39) |
E705G |
probably damaging |
Het |
Gm10318 |
G |
A |
10: 77,689,078 (GRCm39) |
C128Y |
unknown |
Het |
H3c3 |
C |
A |
13: 23,929,393 (GRCm39) |
A30S |
probably benign |
Het |
Hcar2 |
G |
A |
5: 124,002,571 (GRCm39) |
R311* |
probably null |
Het |
Hira |
A |
G |
16: 18,746,261 (GRCm39) |
Q468R |
possibly damaging |
Het |
Hspa1l |
T |
C |
17: 35,197,092 (GRCm39) |
V377A |
probably damaging |
Het |
Igkv2-137 |
T |
A |
6: 67,532,659 (GRCm39) |
W14R |
probably damaging |
Het |
Itga3 |
A |
T |
11: 94,953,391 (GRCm39) |
L317Q |
probably damaging |
Het |
Jade2 |
A |
C |
11: 51,715,906 (GRCm39) |
L433W |
probably damaging |
Het |
Kif21a |
T |
C |
15: 90,840,559 (GRCm39) |
T1186A |
probably benign |
Het |
Krtap28-10 |
C |
A |
1: 83,019,894 (GRCm39) |
C82F |
unknown |
Het |
Ksr1 |
G |
A |
11: 78,931,709 (GRCm39) |
T333M |
probably damaging |
Het |
Msi1 |
T |
C |
5: 115,573,598 (GRCm39) |
F132S |
probably damaging |
Het |
Myo7b |
C |
A |
18: 32,099,402 (GRCm39) |
K1673N |
probably null |
Het |
Ndst4 |
G |
A |
3: 125,515,810 (GRCm39) |
G312R |
probably damaging |
Het |
Ndufaf2 |
A |
G |
13: 108,189,316 (GRCm39) |
V144A |
probably benign |
Het |
Omd |
T |
C |
13: 49,743,576 (GRCm39) |
S209P |
possibly damaging |
Het |
Or2n1c |
A |
G |
17: 38,519,304 (GRCm39) |
H56R |
probably damaging |
Het |
Or2t47 |
G |
C |
11: 58,442,209 (GRCm39) |
N285K |
probably damaging |
Het |
Or51b17 |
G |
A |
7: 103,542,816 (GRCm39) |
T42I |
probably benign |
Het |
Or51e1 |
T |
A |
7: 102,359,219 (GRCm39) |
I251N |
possibly damaging |
Het |
Or52a24 |
T |
C |
7: 103,381,220 (GRCm39) |
I29T |
probably damaging |
Het |
Or52e3 |
T |
C |
7: 102,869,393 (GRCm39) |
L156P |
possibly damaging |
Het |
Patl1 |
T |
A |
19: 11,898,760 (GRCm39) |
Y152N |
probably damaging |
Het |
Plaur |
T |
A |
7: 24,164,577 (GRCm39) |
M27K |
probably benign |
Het |
Ppfia2 |
T |
A |
10: 106,694,439 (GRCm39) |
|
probably benign |
Het |
Ppfia3 |
A |
G |
7: 44,990,100 (GRCm39) |
V1142A |
probably damaging |
Het |
Psg28 |
T |
A |
7: 18,156,981 (GRCm39) |
N418I |
probably damaging |
Het |
Ptprd |
A |
T |
4: 75,863,251 (GRCm39) |
F1237I |
probably damaging |
Het |
Ptprj |
G |
A |
2: 90,270,987 (GRCm39) |
P1247L |
probably damaging |
Het |
Rbms3 |
A |
T |
9: 116,524,886 (GRCm39) |
|
probably null |
Het |
Rgs18 |
A |
G |
1: 144,629,566 (GRCm39) |
V231A |
probably benign |
Het |
Rnf112 |
T |
C |
11: 61,343,277 (GRCm39) |
R156G |
possibly damaging |
Het |
Rsad1 |
A |
C |
11: 94,439,010 (GRCm39) |
V150G |
probably damaging |
Het |
Rxrg |
G |
A |
1: 167,462,005 (GRCm39) |
V350I |
possibly damaging |
Het |
Sash1 |
A |
G |
10: 8,626,808 (GRCm39) |
I192T |
possibly damaging |
Het |
Slc25a36 |
G |
A |
9: 96,961,259 (GRCm39) |
T259I |
probably benign |
Het |
Smarcd3 |
T |
A |
5: 24,798,986 (GRCm39) |
E324V |
probably null |
Het |
St3gal4 |
A |
G |
9: 34,966,944 (GRCm39) |
V2A |
possibly damaging |
Het |
Stk17b |
A |
C |
1: 53,796,784 (GRCm39) |
S328A |
probably benign |
Het |
Tbrg1 |
A |
G |
9: 37,563,949 (GRCm39) |
Y229H |
probably damaging |
Het |
Tdg |
A |
G |
10: 82,484,514 (GRCm39) |
N409S |
probably benign |
Het |
Terb1 |
T |
C |
8: 105,212,036 (GRCm39) |
E315G |
possibly damaging |
Het |
Tmem131 |
A |
G |
1: 36,867,228 (GRCm39) |
F402L |
probably benign |
Het |
Trav4-2 |
T |
C |
14: 53,656,190 (GRCm39) |
I64T |
probably benign |
Het |
Trav4-4-dv10 |
A |
G |
14: 53,921,574 (GRCm39) |
T91A |
probably benign |
Het |
Xdh |
C |
T |
17: 74,228,346 (GRCm39) |
G352R |
probably damaging |
Het |
Zfp551 |
C |
A |
7: 12,156,559 (GRCm39) |
|
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 |
|
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 |
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'- CTTCTGGCTCAGAGAAGACTCC -3'
(R):5'- GAGCTTCCAATATGGCTGTTC -3'
Sequencing Primer
(F):5'- TCTGGCTCAGAGAAGACTCCTAGATC -3'
(R):5'- CACTGGGTGGCAGAGCTTG -3'
|
Posted On |
2021-10-11 |