Incidental Mutation 'IGL01981:Myom3'
ID |
183479 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01981
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
135487026-135542875 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 135513160 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 613
(R613*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101480
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105854]
|
AlphaFold |
A2ABU4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000105854
AA Change: R613*
|
SMART Domains |
Protein: ENSMUSP00000101480 Gene: ENSMUSG00000037139 AA Change: R613*
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt2 |
A |
C |
7: 27,337,499 (GRCm39) |
D417A |
probably benign |
Het |
Ap1b1 |
T |
A |
11: 4,969,336 (GRCm39) |
S231T |
possibly damaging |
Het |
Arhgap31 |
G |
A |
16: 38,421,935 (GRCm39) |
T1377I |
probably damaging |
Het |
Cdkl3 |
A |
G |
11: 51,895,896 (GRCm39) |
T48A |
probably benign |
Het |
Chd3 |
T |
C |
11: 69,251,501 (GRCm39) |
Y510C |
probably damaging |
Het |
Chml |
A |
G |
1: 175,515,751 (GRCm39) |
S57P |
probably damaging |
Het |
Cpxm1 |
G |
T |
2: 130,236,060 (GRCm39) |
C367* |
probably null |
Het |
D930020B18Rik |
A |
G |
10: 121,528,319 (GRCm39) |
T428A |
probably damaging |
Het |
Dnaja3 |
A |
T |
16: 4,519,033 (GRCm39) |
I325F |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,612,258 (GRCm39) |
|
probably benign |
Het |
Erbb3 |
A |
G |
10: 128,407,519 (GRCm39) |
V943A |
probably benign |
Het |
Fam110b |
A |
G |
4: 5,799,481 (GRCm39) |
I300V |
probably benign |
Het |
Fam193a |
A |
G |
5: 34,588,537 (GRCm39) |
E76G |
probably damaging |
Het |
Fbxl3 |
G |
A |
14: 103,332,900 (GRCm39) |
T26M |
possibly damaging |
Het |
Furin |
A |
G |
7: 80,042,647 (GRCm39) |
L380P |
probably damaging |
Het |
Fxr2 |
A |
C |
11: 69,541,328 (GRCm39) |
I354L |
possibly damaging |
Het |
Garnl3 |
G |
T |
2: 32,887,741 (GRCm39) |
N756K |
probably damaging |
Het |
Gimap1 |
A |
G |
6: 48,720,258 (GRCm39) |
Y290C |
probably damaging |
Het |
Gm5592 |
G |
A |
7: 40,935,795 (GRCm39) |
W99* |
probably null |
Het |
Hexd |
G |
T |
11: 121,107,819 (GRCm39) |
S183I |
possibly damaging |
Het |
Hmg20a |
C |
T |
9: 56,384,514 (GRCm39) |
P95S |
probably damaging |
Het |
Jhy |
A |
T |
9: 40,806,842 (GRCm39) |
I769N |
probably damaging |
Het |
Lrrd1 |
G |
T |
5: 3,901,267 (GRCm39) |
C524F |
probably damaging |
Het |
Musk |
C |
A |
4: 58,296,629 (GRCm39) |
S76R |
probably damaging |
Het |
Naa16 |
T |
A |
14: 79,618,956 (GRCm39) |
E172D |
probably benign |
Het |
Obox6 |
A |
T |
7: 15,568,846 (GRCm39) |
M10K |
possibly damaging |
Het |
Or5al5 |
A |
T |
2: 85,961,174 (GRCm39) |
Y278N |
probably benign |
Het |
Pam |
C |
T |
1: 97,762,166 (GRCm39) |
V700M |
probably damaging |
Het |
Phf8-ps |
C |
T |
17: 33,286,628 (GRCm39) |
G58E |
probably damaging |
Het |
Pkd1l2 |
C |
A |
8: 117,743,655 (GRCm39) |
R1978L |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,593,791 (GRCm39) |
T1441S |
possibly damaging |
Het |
Plg |
A |
G |
17: 12,621,934 (GRCm39) |
|
probably benign |
Het |
Pot1a |
A |
G |
6: 25,750,099 (GRCm39) |
L521P |
probably damaging |
Het |
Pramel14 |
G |
A |
4: 143,720,924 (GRCm39) |
P6S |
probably damaging |
Het |
Ptprj |
A |
T |
2: 90,270,256 (GRCm39) |
V1280E |
probably damaging |
Het |
Rcbtb2 |
T |
C |
14: 73,402,222 (GRCm39) |
S136P |
possibly damaging |
Het |
Rtl1 |
C |
T |
12: 109,558,369 (GRCm39) |
E1157K |
possibly damaging |
Het |
Sell |
G |
A |
1: 163,893,195 (GRCm39) |
R137Q |
probably benign |
Het |
Shisa9 |
A |
T |
16: 12,062,522 (GRCm39) |
M248L |
probably benign |
Het |
Spag17 |
A |
G |
3: 99,966,149 (GRCm39) |
E1144G |
probably benign |
Het |
Sphk2 |
G |
T |
7: 45,360,157 (GRCm39) |
Q616K |
probably benign |
Het |
Tecrl |
T |
C |
5: 83,442,453 (GRCm39) |
T207A |
probably benign |
Het |
Ubr5 |
T |
C |
15: 37,996,842 (GRCm39) |
T1885A |
probably benign |
Het |
Usp24 |
T |
C |
4: 106,232,965 (GRCm39) |
|
probably benign |
Het |
Usp32 |
A |
G |
11: 84,927,350 (GRCm39) |
M622T |
probably benign |
Het |
Vangl1 |
A |
G |
3: 102,091,607 (GRCm39) |
F160L |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,813,317 (GRCm39) |
S3289G |
probably damaging |
Het |
Wdfy4 |
A |
G |
14: 32,855,673 (GRCm39) |
F647S |
probably damaging |
Het |
Wdhd1 |
A |
G |
14: 47,498,907 (GRCm39) |
L509P |
probably damaging |
Het |
Zcchc2 |
A |
G |
1: 105,955,229 (GRCm39) |
E640G |
probably damaging |
Het |
Zfp563 |
T |
A |
17: 33,324,383 (GRCm39) |
I326N |
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 |
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 |
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 |
|
Posted On |
2014-05-07 |