Incidental Mutation 'R1876:Myom3'
| ID |
211212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myom3
|
| Ensembl Gene |
ENSMUSG00000037139 |
| Gene Name |
myomesin family, member 3 |
| Synonyms |
8430427K15Rik |
| MMRRC Submission |
039898-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R1876 (G1)
|
| Quality Score |
142 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
135487026-135542875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 135506711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 495
(F495I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105854]
|
| AlphaFold |
A2ABU4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105854
AA Change: F495I
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: F495I
| 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 |
0.1575 |
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.2%
|
| Validation Efficiency |
99% (82/83) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
C |
A |
5: 77,025,396 (GRCm39) |
C961F |
probably damaging |
Het |
| Abca16 |
A |
C |
7: 120,032,608 (GRCm39) |
D209A |
probably damaging |
Het |
| Adamts14 |
T |
C |
10: 61,036,151 (GRCm39) |
I1047V |
probably benign |
Het |
| Ak1 |
A |
G |
2: 32,520,282 (GRCm39) |
K27E |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,011,809 (GRCm39) |
D837E |
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,473,104 (GRCm39) |
Y1653C |
probably damaging |
Het |
| Atad2 |
T |
G |
15: 57,970,264 (GRCm39) |
I446L |
probably benign |
Het |
| Atp8b3 |
T |
G |
10: 80,365,912 (GRCm39) |
T313P |
possibly damaging |
Het |
| Btg4 |
T |
C |
9: 51,028,489 (GRCm39) |
L72S |
probably damaging |
Het |
| Canx |
A |
G |
11: 50,195,186 (GRCm39) |
I294T |
probably damaging |
Het |
| Casp1 |
G |
A |
9: 5,303,663 (GRCm39) |
E250K |
probably benign |
Het |
| Chchd10 |
T |
A |
10: 75,772,166 (GRCm39) |
S46T |
probably benign |
Het |
| Col12a1 |
G |
T |
9: 79,585,563 (GRCm39) |
Y1271* |
probably null |
Het |
| Col3a1 |
G |
A |
1: 45,381,395 (GRCm39) |
|
probably null |
Het |
| Ctc1 |
A |
T |
11: 68,922,390 (GRCm39) |
T872S |
probably benign |
Het |
| Cx3cl1 |
T |
C |
8: 95,507,048 (GRCm39) |
F351S |
probably damaging |
Het |
| Cyb5r4 |
T |
A |
9: 86,937,867 (GRCm39) |
H295Q |
probably damaging |
Het |
| Cyp2j7 |
T |
C |
4: 96,105,656 (GRCm39) |
T285A |
probably benign |
Het |
| Dip2a |
G |
A |
10: 76,153,925 (GRCm39) |
T135M |
probably damaging |
Het |
| Eif1ad18 |
T |
G |
12: 88,050,810 (GRCm39) |
I115S |
probably damaging |
Het |
| Fgf10 |
A |
G |
13: 118,925,695 (GRCm39) |
E158G |
probably damaging |
Het |
| Ftcd |
G |
T |
10: 76,417,403 (GRCm39) |
A281S |
probably benign |
Het |
| Gpat4 |
A |
T |
8: 23,669,486 (GRCm39) |
M333K |
possibly damaging |
Het |
| Gpcpd1 |
A |
G |
2: 132,376,673 (GRCm39) |
L541P |
probably damaging |
Het |
| Grk5 |
T |
C |
19: 61,071,663 (GRCm39) |
Y408H |
probably damaging |
Het |
| Hcrtr2 |
A |
G |
9: 76,153,627 (GRCm39) |
|
probably null |
Het |
| Hsd17b13 |
T |
A |
5: 104,116,633 (GRCm39) |
N127I |
probably damaging |
Het |
| Hspa4 |
T |
G |
11: 53,174,983 (GRCm39) |
D158A |
probably benign |
Het |
| Ice2 |
G |
A |
9: 69,322,857 (GRCm39) |
A451T |
possibly damaging |
Het |
| Inpp5e |
A |
T |
2: 26,298,169 (GRCm39) |
I144K |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrrc49 |
T |
C |
9: 60,495,060 (GRCm39) |
I652V |
possibly damaging |
Het |
| Man1a |
A |
T |
10: 53,795,268 (GRCm39) |
W571R |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,047,807 (GRCm39) |
S32P |
probably damaging |
Het |
| Mrpl40 |
A |
G |
16: 18,691,224 (GRCm39) |
I162T |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtmr12 |
T |
C |
15: 12,257,716 (GRCm39) |
W265R |
probably damaging |
Het |
| Mup21 |
C |
T |
4: 62,067,663 (GRCm39) |
V79I |
probably benign |
Het |
| Myh11 |
G |
A |
16: 14,086,967 (GRCm39) |
|
probably benign |
Het |
| Ncoa7 |
A |
T |
10: 30,574,122 (GRCm39) |
|
probably benign |
Het |
| Nisch |
T |
C |
14: 30,895,594 (GRCm39) |
Y45C |
probably damaging |
Het |
| Nkain2 |
T |
A |
10: 32,766,435 (GRCm39) |
|
probably benign |
Het |
| Or1ak2 |
A |
T |
2: 36,827,775 (GRCm39) |
I215F |
possibly damaging |
Het |
| Or4k1 |
A |
G |
14: 50,377,629 (GRCm39) |
S156P |
probably damaging |
Het |
| Pdcl |
A |
C |
2: 37,245,708 (GRCm39) |
H98Q |
probably damaging |
Het |
| Pink1 |
A |
G |
4: 138,043,013 (GRCm39) |
V427A |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,769,067 (GRCm39) |
S2242P |
probably damaging |
Het |
| Plrg1 |
C |
A |
3: 82,976,375 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
A |
G |
10: 94,702,803 (GRCm39) |
F586S |
possibly damaging |
Het |
| Pnpla7 |
G |
A |
2: 24,930,985 (GRCm39) |
V867M |
possibly damaging |
Het |
| Ppfia3 |
T |
A |
7: 45,001,631 (GRCm39) |
D427V |
possibly damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,521,971 (GRCm39) |
|
probably benign |
Het |
| Pros1 |
A |
T |
16: 62,723,881 (GRCm39) |
S210C |
probably damaging |
Het |
| Ptk2b |
A |
G |
14: 66,395,841 (GRCm39) |
S839P |
probably benign |
Het |
| Ptpre |
T |
C |
7: 135,280,046 (GRCm39) |
V570A |
possibly damaging |
Het |
| Rbm48 |
C |
T |
5: 3,645,259 (GRCm39) |
A142T |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,883,909 (GRCm39) |
|
probably null |
Het |
| Scnn1a |
A |
G |
6: 125,315,801 (GRCm39) |
E384G |
probably benign |
Het |
| Sec23ip |
A |
G |
7: 128,354,575 (GRCm39) |
Y277C |
probably benign |
Het |
| Slc25a29 |
G |
A |
12: 108,793,637 (GRCm39) |
T42M |
probably damaging |
Het |
| Slc6a4 |
A |
T |
11: 76,905,990 (GRCm39) |
T264S |
probably benign |
Het |
| Srgap3 |
A |
G |
6: 112,752,527 (GRCm39) |
M319T |
probably damaging |
Het |
| Strn4 |
T |
A |
7: 16,572,207 (GRCm39) |
I640N |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,225,475 (GRCm39) |
D739G |
probably benign |
Het |
| Tigd4 |
T |
A |
3: 84,501,242 (GRCm39) |
L53* |
probably null |
Het |
| Tlr6 |
T |
A |
5: 65,112,763 (GRCm39) |
D48V |
probably damaging |
Het |
| Tmem125 |
T |
C |
4: 118,399,101 (GRCm39) |
D110G |
probably damaging |
Het |
| Tmem198 |
A |
G |
1: 75,461,567 (GRCm39) |
D341G |
probably damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,880,682 (GRCm39) |
F462L |
possibly damaging |
Het |
| Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,410,486 (GRCm39) |
I2378N |
possibly damaging |
Het |
| Usp47 |
A |
G |
7: 111,654,127 (GRCm39) |
T108A |
probably damaging |
Het |
| Vmn1r236 |
T |
A |
17: 21,506,900 (GRCm39) |
I6K |
probably benign |
Het |
| Vmn2r65 |
A |
T |
7: 84,595,505 (GRCm39) |
V393D |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACATAGCCCCATGTGTCTG -3'
(R):5'- ACAGCCAGGCAGTCTAAAGG -3'
Sequencing Primer
(F):5'- TTTGGACTCCAAGAAAGCTAGAC -3'
(R):5'- GCAGTCTAAAGGACATGGCCC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation