Incidental Mutation 'R4943:Myom3'
| ID |
383249 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myom3
|
| Ensembl Gene |
ENSMUSG00000037139 |
| Gene Name |
myomesin family, member 3 |
| Synonyms |
8430427K15Rik |
| MMRRC Submission |
042540-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R4943 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
135487026-135542875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135541585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1392
(V1392A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105854]
|
| AlphaFold |
A2ABU4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105854
AA Change: V1392A
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: V1392A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145304
|
| Meta Mutation Damage Score |
0.1279 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
99% (81/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
A |
13: 77,393,446 (GRCm39) |
T366K |
possibly damaging |
Het |
| 2510039O18Rik |
T |
A |
4: 148,029,555 (GRCm39) |
H508Q |
probably damaging |
Het |
| Aadacl4fm5 |
T |
A |
4: 144,504,290 (GRCm39) |
E287V |
probably benign |
Het |
| Actl9 |
G |
A |
17: 33,652,059 (GRCm39) |
V40M |
possibly damaging |
Het |
| Aen |
T |
A |
7: 78,552,109 (GRCm39) |
V23E |
probably damaging |
Het |
| Agbl1 |
G |
A |
7: 76,069,764 (GRCm39) |
R432K |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,398,988 (GRCm39) |
F2689I |
probably benign |
Het |
| Arhgap45 |
A |
G |
10: 79,862,337 (GRCm39) |
S475G |
probably benign |
Het |
| Atg7 |
A |
C |
6: 114,674,045 (GRCm39) |
Q231P |
probably benign |
Het |
| Calr3 |
A |
T |
8: 73,185,221 (GRCm39) |
V226D |
probably benign |
Het |
| Cldn10 |
G |
A |
14: 119,025,725 (GRCm39) |
G53S |
possibly damaging |
Het |
| Cops4 |
A |
T |
5: 100,695,292 (GRCm39) |
M404L |
probably benign |
Het |
| Cpne4 |
A |
T |
9: 104,896,972 (GRCm39) |
H375L |
probably damaging |
Het |
| D16Ertd472e |
A |
T |
16: 78,372,877 (GRCm39) |
V20D |
probably damaging |
Het |
| Dcun1d5 |
T |
C |
9: 7,186,844 (GRCm39) |
F55L |
possibly damaging |
Het |
| Dhx8 |
T |
A |
11: 101,628,526 (GRCm39) |
L93* |
probably null |
Het |
| Dtx4 |
A |
G |
19: 12,478,424 (GRCm39) |
L53P |
probably damaging |
Het |
| Ern2 |
C |
T |
7: 121,772,481 (GRCm39) |
R659H |
possibly damaging |
Het |
| Etl4 |
G |
A |
2: 20,812,092 (GRCm39) |
A1392T |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,169,859 (GRCm39) |
R2967G |
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,034,322 (GRCm39) |
D2658G |
probably benign |
Het |
| Ftsj3 |
A |
G |
11: 106,140,344 (GRCm39) |
V808A |
probably damaging |
Het |
| Gm10447 |
A |
T |
11: 53,347,216 (GRCm39) |
Y104* |
probably null |
Het |
| Gm27013 |
A |
T |
6: 130,653,163 (GRCm39) |
C766* |
probably null |
Het |
| Gm5581 |
A |
G |
6: 131,144,088 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr158 |
G |
A |
2: 21,831,968 (GRCm39) |
V1023I |
probably damaging |
Het |
| Hectd2 |
T |
G |
19: 36,581,647 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
C |
2: 31,225,504 (GRCm39) |
Y138H |
probably damaging |
Het |
| Kif28 |
T |
C |
1: 179,541,516 (GRCm39) |
I369V |
probably benign |
Het |
| Kif4-ps |
C |
T |
12: 101,115,476 (GRCm39) |
|
noncoding transcript |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Map3k20 |
G |
A |
2: 72,202,262 (GRCm39) |
M164I |
possibly damaging |
Het |
| Map4k4 |
A |
G |
1: 40,058,754 (GRCm39) |
I1050V |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,751,567 (GRCm39) |
V133D |
possibly damaging |
Het |
| Mycn |
A |
T |
12: 12,987,080 (GRCm39) |
L439Q |
probably damaging |
Het |
| Myh2 |
G |
T |
11: 67,088,143 (GRCm39) |
A1920S |
probably damaging |
Het |
| Nktr |
T |
A |
9: 121,549,020 (GRCm39) |
|
probably benign |
Het |
| Nme3 |
A |
G |
17: 25,115,697 (GRCm39) |
K48E |
probably damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,186,387 (GRCm39) |
R58G |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,201,574 (GRCm39) |
E1270G |
probably damaging |
Het |
| Or12d16-ps1 |
G |
T |
17: 37,705,916 (GRCm39) |
A162S |
probably benign |
Het |
| Or4e2 |
C |
G |
14: 52,688,051 (GRCm39) |
Y60* |
probably null |
Het |
| Or51l4 |
A |
T |
7: 103,404,503 (GRCm39) |
F96L |
probably benign |
Het |
| Or8c20 |
C |
T |
9: 38,260,924 (GRCm39) |
H176Y |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,762,651 (GRCm39) |
L3708P |
unknown |
Het |
| Pde4dip |
A |
T |
3: 97,662,827 (GRCm39) |
N590K |
probably damaging |
Het |
| Prokr1 |
A |
C |
6: 87,558,806 (GRCm39) |
I193S |
possibly damaging |
Het |
| Pxdc1 |
C |
A |
13: 34,822,989 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
A |
T |
3: 78,971,854 (GRCm39) |
S1494T |
probably benign |
Het |
| Rbms3 |
G |
C |
9: 116,507,573 (GRCm39) |
|
probably benign |
Het |
| Reep3 |
T |
A |
10: 66,932,042 (GRCm39) |
|
probably benign |
Het |
| Rwdd2b |
T |
C |
16: 87,231,422 (GRCm39) |
K244R |
possibly damaging |
Het |
| Srrm2 |
T |
C |
17: 24,041,389 (GRCm39) |
V2533A |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,790,026 (GRCm39) |
Y580C |
probably damaging |
Het |
| Stac2 |
G |
T |
11: 97,932,398 (GRCm39) |
S198R |
probably benign |
Het |
| Tdp2 |
T |
A |
13: 25,022,248 (GRCm39) |
N222K |
probably benign |
Het |
| Tex21 |
A |
G |
12: 76,268,474 (GRCm39) |
S103P |
probably damaging |
Het |
| Thbs1 |
A |
T |
2: 117,943,930 (GRCm39) |
I183F |
probably damaging |
Het |
| Tm9sf1 |
T |
C |
14: 55,878,625 (GRCm39) |
I256V |
probably damaging |
Het |
| Tmem207 |
C |
T |
16: 26,336,603 (GRCm39) |
W50* |
probably null |
Het |
| Trpm2 |
C |
A |
10: 77,801,841 (GRCm39) |
V75L |
probably damaging |
Het |
| Vmn1r227 |
A |
T |
17: 20,955,623 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r13 |
C |
A |
5: 109,322,915 (GRCm39) |
V125L |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,814,705 (GRCm39) |
S263T |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,547,882 (GRCm39) |
V140I |
probably benign |
Het |
| Xpo4 |
T |
C |
14: 57,875,697 (GRCm39) |
I145M |
possibly damaging |
Het |
| Zan |
G |
A |
5: 137,456,152 (GRCm39) |
T1336I |
unknown |
Het |
| Zdbf2 |
G |
T |
1: 63,342,073 (GRCm39) |
V151F |
possibly damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,674,949 (GRCm39) |
S2000P |
probably damaging |
Het |
| Zfp65 |
T |
A |
13: 67,859,099 (GRCm39) |
I12F |
probably damaging |
Het |
| Zfp703 |
C |
A |
8: 27,469,619 (GRCm39) |
Q428K |
probably benign |
Het |
| Zfp947 |
A |
C |
17: 22,364,813 (GRCm39) |
M287R |
probably benign |
Het |
| Zfp976 |
A |
T |
7: 42,261,846 (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 |
|
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'- AGCCAAGTTCGGGTTACAGG -3'
(R):5'- ATCCAGGTCTGTCATGTCCCTG -3'
Sequencing Primer
(F):5'- ACAGGACGTAAAATTGTTTTCCTCCC -3'
(R):5'- TTATGACCCATGGGCTGGC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation