Incidental Mutation 'R4726:Myom3'
| ID |
358452 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myom3
|
| Ensembl Gene |
ENSMUSG00000037139 |
| Gene Name |
myomesin family, member 3 |
| Synonyms |
8430427K15Rik |
| MMRRC Submission |
041989-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R4726 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
135487026-135542875 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 135534586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105854]
[ENSMUST00000105854]
|
| AlphaFold |
A2ABU4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000105854
|
| SMART Domains |
Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
| 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 |
probably null
Transcript: ENSMUST00000105854
|
| SMART Domains |
Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
| 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: ENSMUST00000142177
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145304
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
99% (74/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930583I09Rik |
T |
C |
17: 65,141,448 (GRCm39) |
S52G |
probably null |
Het |
| Abcc2 |
T |
C |
19: 43,820,553 (GRCm39) |
S1351P |
probably benign |
Het |
| Acp2 |
T |
A |
2: 91,034,622 (GRCm39) |
L87Q |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,794,425 (GRCm39) |
T550K |
possibly damaging |
Het |
| Amotl2 |
A |
G |
9: 102,601,018 (GRCm39) |
R329G |
probably benign |
Het |
| Angel1 |
T |
C |
12: 86,768,649 (GRCm39) |
N278S |
probably damaging |
Het |
| Ankrd12 |
A |
C |
17: 66,277,319 (GRCm39) |
M1985R |
probably damaging |
Het |
| Apob |
T |
A |
12: 8,040,267 (GRCm39) |
F535I |
probably damaging |
Het |
| Art3 |
A |
G |
5: 92,559,002 (GRCm39) |
K313R |
probably benign |
Het |
| Asxl2 |
C |
T |
12: 3,551,872 (GRCm39) |
H1205Y |
possibly damaging |
Het |
| Bsph1 |
A |
T |
7: 13,206,920 (GRCm39) |
M99L |
probably benign |
Het |
| Ccdc153 |
T |
C |
9: 44,154,963 (GRCm39) |
|
probably null |
Het |
| Cdh16 |
A |
T |
8: 105,342,664 (GRCm39) |
M28K |
probably damaging |
Het |
| Cdhr2 |
T |
C |
13: 54,866,352 (GRCm39) |
F353L |
probably damaging |
Het |
| Chrna2 |
G |
T |
14: 66,386,345 (GRCm39) |
V164L |
possibly damaging |
Het |
| Cip2a |
A |
G |
16: 48,834,433 (GRCm39) |
T672A |
probably benign |
Het |
| Ckmt1 |
T |
C |
2: 121,191,712 (GRCm39) |
|
probably null |
Het |
| Col25a1 |
A |
T |
3: 130,313,430 (GRCm39) |
E280V |
possibly damaging |
Het |
| Dnajc12 |
A |
G |
10: 63,233,087 (GRCm39) |
D76G |
probably damaging |
Het |
| Drd3 |
G |
T |
16: 43,643,164 (GRCm39) |
E467* |
probably null |
Het |
| Ecpas |
A |
G |
4: 58,844,191 (GRCm39) |
V525A |
probably damaging |
Het |
| Ehbp1l1 |
C |
A |
19: 5,769,204 (GRCm39) |
A700S |
possibly damaging |
Het |
| Gab1 |
T |
C |
8: 81,515,682 (GRCm39) |
D212G |
possibly damaging |
Het |
| Gm26996 |
A |
G |
6: 130,557,134 (GRCm39) |
|
noncoding transcript |
Het |
| Gm28113 |
A |
G |
15: 75,198,577 (GRCm39) |
|
noncoding transcript |
Het |
| Has3 |
T |
C |
8: 107,604,718 (GRCm39) |
F308S |
probably damaging |
Het |
| Ifit3b |
T |
A |
19: 34,588,860 (GRCm39) |
I12N |
probably benign |
Het |
| Ifna4 |
C |
A |
4: 88,760,519 (GRCm39) |
T141K |
probably benign |
Het |
| Ints3 |
A |
G |
3: 90,301,084 (GRCm39) |
S840P |
probably damaging |
Het |
| Itih4 |
T |
C |
14: 30,611,792 (GRCm39) |
V132A |
probably damaging |
Het |
| Itprid2 |
T |
A |
2: 79,493,101 (GRCm39) |
I1216N |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,196,639 (GRCm39) |
Y51C |
probably damaging |
Het |
| Klk1b24 |
G |
A |
7: 43,839,820 (GRCm39) |
V60I |
probably damaging |
Het |
| Klra14-ps |
C |
A |
6: 130,134,626 (GRCm39) |
|
noncoding transcript |
Het |
| Krt6b |
A |
G |
15: 101,586,520 (GRCm39) |
I323T |
probably damaging |
Het |
| Lilra5 |
A |
C |
7: 4,240,957 (GRCm39) |
Q17P |
probably benign |
Het |
| Lrrc7 |
GAAGTTGTTTGGAGATTCTTATCTTA |
GA |
3: 158,024,045 (GRCm39) |
|
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,451,851 (GRCm39) |
N1479S |
possibly damaging |
Het |
| Mbd3l2 |
A |
T |
9: 18,356,256 (GRCm39) |
I194F |
probably damaging |
Het |
| Megf10 |
T |
C |
18: 57,420,864 (GRCm39) |
I834T |
probably benign |
Het |
| Mterf4 |
G |
A |
1: 93,229,471 (GRCm39) |
T251M |
probably damaging |
Het |
| Mtmr3 |
A |
T |
11: 4,457,634 (GRCm39) |
D170E |
probably damaging |
Het |
| Nemp1 |
G |
A |
10: 127,530,462 (GRCm39) |
V305I |
probably benign |
Het |
| Nlrp1b |
G |
T |
11: 71,072,232 (GRCm39) |
T537K |
probably benign |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Or5b3 |
T |
A |
19: 13,388,469 (GRCm39) |
C179S |
probably damaging |
Het |
| Or6c206 |
A |
G |
10: 129,097,045 (GRCm39) |
T72A |
possibly damaging |
Het |
| Or8k28 |
A |
G |
2: 86,286,580 (GRCm39) |
F12L |
possibly damaging |
Het |
| Pias1 |
A |
G |
9: 62,827,771 (GRCm39) |
V212A |
probably damaging |
Het |
| Plscr1 |
T |
A |
9: 92,145,221 (GRCm39) |
V77D |
probably damaging |
Het |
| Plxna1 |
T |
C |
6: 89,299,798 (GRCm39) |
N1657S |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,069,414 (GRCm39) |
V1551A |
possibly damaging |
Het |
| Ptprn2 |
C |
A |
12: 117,211,393 (GRCm39) |
Y857* |
probably null |
Het |
| Puf60 |
A |
T |
15: 75,944,183 (GRCm39) |
|
probably null |
Het |
| Rnf20 |
C |
T |
4: 49,654,579 (GRCm39) |
R879* |
probably null |
Het |
| Robo1 |
G |
A |
16: 72,768,931 (GRCm39) |
A499T |
probably damaging |
Het |
| Slc39a14 |
A |
G |
14: 70,551,048 (GRCm39) |
|
probably null |
Het |
| Smarcad1 |
A |
T |
6: 65,052,025 (GRCm39) |
H6L |
probably damaging |
Het |
| Smg5 |
A |
G |
3: 88,243,758 (GRCm39) |
S10G |
possibly damaging |
Het |
| Stk39 |
T |
A |
2: 68,093,647 (GRCm39) |
D488V |
probably damaging |
Het |
| Stx19 |
A |
G |
16: 62,642,495 (GRCm39) |
N104D |
probably benign |
Het |
| Tcstv1b |
A |
T |
13: 120,635,173 (GRCm39) |
S152C |
possibly damaging |
Het |
| Tmem222 |
T |
C |
4: 133,004,975 (GRCm39) |
M21V |
probably benign |
Het |
| Trim43b |
T |
A |
9: 88,971,538 (GRCm39) |
N205I |
possibly damaging |
Het |
| Ubr4 |
C |
A |
4: 139,209,890 (GRCm39) |
H5017N |
possibly damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,536,960 (GRCm39) |
T548A |
probably damaging |
Het |
| Vps8 |
G |
A |
16: 21,267,154 (GRCm39) |
|
probably null |
Het |
| Wasl |
A |
G |
6: 24,633,110 (GRCm39) |
V176A |
probably benign |
Het |
| Wbp2nl |
T |
A |
15: 82,190,255 (GRCm39) |
V61E |
probably damaging |
Het |
| Zfp959 |
T |
A |
17: 56,205,260 (GRCm39) |
|
probably null |
Het |
| Zmiz1 |
T |
C |
14: 25,644,098 (GRCm39) |
|
probably null |
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 |
|
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'- AGCAGGCTGTTTCCAAAACTC -3'
(R):5'- CATGGAGACCTCAGATCAATGAC -3'
Sequencing Primer
(F):5'- GGCTGTTTCCAAAACTCCCCTG -3'
(R):5'- TGGGGGACAACTCTTCTACC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation