Incidental Mutation 'R8188:Myom3'
| ID |
634966 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myom3
|
| Ensembl Gene |
ENSMUSG00000037139 |
| Gene Name |
myomesin family, member 3 |
| Synonyms |
8430427K15Rik |
| MMRRC Submission |
067611-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R8188 (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 135507231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 537
(L537Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105854]
|
| AlphaFold |
A2ABU4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105854
AA Change: L537Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: L537Q
| 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: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
C |
G |
4: 40,180,284 (GRCm39) |
A395G |
probably benign |
Het |
| Adgrf5 |
G |
A |
17: 43,741,503 (GRCm39) |
C380Y |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,977,418 (GRCm39) |
T422A |
unknown |
Het |
| Baz1b |
G |
T |
5: 135,233,916 (GRCm39) |
V148F |
probably benign |
Het |
| Bicd1 |
A |
C |
6: 149,451,854 (GRCm39) |
S823R |
probably damaging |
Het |
| Bltp3b |
C |
T |
10: 89,647,928 (GRCm39) |
T1330M |
possibly damaging |
Het |
| Blvra |
A |
C |
2: 126,937,047 (GRCm39) |
S167R |
probably damaging |
Het |
| Camsap2 |
G |
T |
1: 136,225,132 (GRCm39) |
|
probably null |
Het |
| Card14 |
T |
C |
11: 119,228,623 (GRCm39) |
S650P |
probably damaging |
Het |
| Ccdc121rt2 |
A |
G |
5: 112,597,993 (GRCm39) |
D180G |
possibly damaging |
Het |
| Cdh2 |
A |
G |
18: 16,781,593 (GRCm39) |
I166T |
probably damaging |
Het |
| Cdnf |
T |
C |
2: 3,514,228 (GRCm39) |
V22A |
probably benign |
Het |
| Cfhr4 |
T |
A |
1: 139,625,868 (GRCm39) |
I869F |
probably damaging |
Het |
| Chd2 |
T |
A |
7: 73,079,504 (GRCm39) |
K1799* |
probably null |
Het |
| Col20a1 |
G |
A |
2: 180,658,126 (GRCm39) |
|
probably null |
Het |
| Cyp4a31 |
T |
C |
4: 115,426,943 (GRCm39) |
I182T |
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,843,543 (GRCm39) |
F25L |
probably benign |
Het |
| Dcc |
T |
A |
18: 71,943,928 (GRCm39) |
Y241F |
probably benign |
Het |
| Ddx46 |
A |
G |
13: 55,814,029 (GRCm39) |
I662V |
possibly damaging |
Het |
| Dzip3 |
T |
C |
16: 48,772,499 (GRCm39) |
D390G |
probably damaging |
Het |
| Eif1 |
A |
G |
11: 100,211,624 (GRCm39) |
D55G |
probably benign |
Het |
| Exosc5 |
T |
A |
7: 25,358,790 (GRCm39) |
S44T |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,163,997 (GRCm39) |
V3086A |
probably damaging |
Het |
| Fcamr |
T |
A |
1: 130,730,665 (GRCm39) |
|
probably null |
Het |
| Gcg |
T |
C |
2: 62,309,004 (GRCm39) |
D50G |
probably damaging |
Het |
| Gm7298 |
A |
G |
6: 121,763,537 (GRCm39) |
|
probably null |
Het |
| Hfe |
A |
G |
13: 23,892,175 (GRCm39) |
V63A |
probably damaging |
Het |
| Hoxd11 |
T |
A |
2: 74,514,298 (GRCm39) |
I276N |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,919,287 (GRCm39) |
S13P |
probably benign |
Het |
| Il12a |
T |
A |
3: 68,598,872 (GRCm39) |
C18S |
unknown |
Het |
| Itk |
G |
T |
11: 46,222,776 (GRCm39) |
Y564* |
probably null |
Het |
| Lrrc46 |
A |
T |
11: 96,931,705 (GRCm39) |
L39Q |
probably damaging |
Het |
| Nrap |
A |
C |
19: 56,325,010 (GRCm39) |
Y1234* |
probably null |
Het |
| Or51q1 |
T |
C |
7: 103,628,743 (GRCm39) |
S121P |
probably damaging |
Het |
| Or8b9 |
A |
T |
9: 37,766,407 (GRCm39) |
M98L |
probably benign |
Het |
| Parn |
T |
C |
16: 13,359,020 (GRCm39) |
D574G |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,789,773 (GRCm39) |
I807V |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,725,193 (GRCm39) |
S1350R |
unknown |
Het |
| Pira13 |
T |
C |
7: 3,826,126 (GRCm39) |
H289R |
unknown |
Het |
| Plaa |
T |
C |
4: 94,474,586 (GRCm39) |
Q272R |
probably damaging |
Het |
| Rfx6 |
T |
A |
10: 51,594,292 (GRCm39) |
I174N |
probably benign |
Het |
| Ripk2 |
T |
A |
4: 16,139,218 (GRCm39) |
K226N |
probably damaging |
Het |
| Scgb1b2 |
T |
C |
7: 30,990,946 (GRCm39) |
D54G |
possibly damaging |
Het |
| Slc45a4 |
T |
C |
15: 73,456,383 (GRCm39) |
Y599C |
probably benign |
Het |
| Slc7a13 |
T |
C |
4: 19,819,082 (GRCm39) |
V94A |
probably benign |
Het |
| Slc7a8 |
A |
G |
14: 54,972,579 (GRCm39) |
F281L |
probably benign |
Het |
| Slco4c1 |
T |
A |
1: 96,772,261 (GRCm39) |
T243S |
probably damaging |
Het |
| Smim30 |
C |
T |
6: 13,870,541 (GRCm39) |
G57E |
probably damaging |
Het |
| Stat5b |
A |
G |
11: 100,692,262 (GRCm39) |
I174T |
probably damaging |
Het |
| Styk1 |
C |
A |
6: 131,281,848 (GRCm39) |
V257L |
probably benign |
Het |
| Tmem268 |
T |
C |
4: 63,498,209 (GRCm39) |
F210L |
probably damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
| Vps50 |
T |
A |
6: 3,562,297 (GRCm39) |
L464* |
probably null |
Het |
| Zfhx2 |
A |
T |
14: 55,301,898 (GRCm39) |
S2029T |
probably benign |
Het |
| Zfp235 |
T |
A |
7: 23,841,296 (GRCm39) |
F572I |
probably damaging |
Het |
| Zfp280d |
T |
C |
9: 72,267,615 (GRCm39) |
I766T |
probably benign |
Het |
| Zfr |
T |
G |
15: 12,171,904 (GRCm39) |
C933W |
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 |
|
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 |
|
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'- TTTAGACTGCCTGGCTGTGC -3'
(R):5'- ATCCTCCTGCCTCAGAGTAAG -3'
Sequencing Primer
(F):5'- GGATGAGTTAGGACAATCTCCCTC -3'
(R):5'- CCTCAGAGTAAGGCTTTGCTCAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation