Incidental Mutation 'R7159:Myom3'
| ID |
557490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myom3
|
| Ensembl Gene |
ENSMUSG00000037139 |
| Gene Name |
myomesin family, member 3 |
| Synonyms |
8430427K15Rik |
| MMRRC Submission |
045259-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R7159 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
135487026-135542875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 135536162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1278
(I1278F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105854]
|
| AlphaFold |
A2ABU4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105854
AA Change: I1278F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: I1278F
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (70/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
A |
7: 75,380,327 (GRCm39) |
V500E |
possibly damaging |
Het |
| Ankrd34b |
T |
C |
13: 92,575,970 (GRCm39) |
S401P |
probably benign |
Het |
| Arfgef2 |
T |
A |
2: 166,668,848 (GRCm39) |
D41E |
probably benign |
Het |
| Arid1a |
T |
C |
4: 133,480,879 (GRCm39) |
N15S |
unknown |
Het |
| Arsa |
A |
T |
15: 89,358,921 (GRCm39) |
|
probably null |
Het |
| B3gnt9 |
C |
A |
8: 105,981,064 (GRCm39) |
C108F |
probably damaging |
Het |
| Bbc3 |
C |
A |
7: 16,047,733 (GRCm39) |
Y152* |
probably null |
Het |
| Btbd1 |
T |
C |
7: 81,467,957 (GRCm39) |
M188V |
probably benign |
Het |
| Caln1 |
C |
T |
5: 130,851,838 (GRCm39) |
T209I |
probably benign |
Het |
| Casp12 |
C |
T |
9: 5,353,763 (GRCm39) |
P266S |
possibly damaging |
Het |
| Ccm2l |
A |
T |
2: 152,912,787 (GRCm39) |
I109F |
probably damaging |
Het |
| Chst15 |
A |
C |
7: 131,871,987 (GRCm39) |
L98R |
probably damaging |
Het |
| Ctsq |
A |
G |
13: 61,186,737 (GRCm39) |
M89T |
probably benign |
Het |
| Ddx39b |
T |
C |
17: 35,465,986 (GRCm39) |
V169A |
probably benign |
Het |
| Fhad1 |
T |
C |
4: 141,678,927 (GRCm39) |
H583R |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 8,019,763 (GRCm39) |
I139F |
probably damaging |
Het |
| Gm7145 |
C |
G |
1: 117,913,561 (GRCm39) |
H148D |
probably benign |
Het |
| Gpr62 |
C |
A |
9: 106,342,641 (GRCm39) |
A96S |
probably damaging |
Het |
| Gsap |
T |
A |
5: 21,475,618 (GRCm39) |
|
probably null |
Het |
| Hdhd5 |
T |
A |
6: 120,500,432 (GRCm39) |
T89S |
probably damaging |
Het |
| Kcna5 |
T |
A |
6: 126,510,592 (GRCm39) |
Y512F |
probably damaging |
Het |
| Krt84 |
C |
A |
15: 101,438,044 (GRCm39) |
E304* |
probably null |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Lrp6 |
C |
A |
6: 134,484,514 (GRCm39) |
V370L |
probably benign |
Het |
| Lrrc3c |
G |
A |
11: 98,490,144 (GRCm39) |
G167D |
probably damaging |
Het |
| Man2b1 |
C |
T |
8: 85,813,909 (GRCm39) |
T291M |
probably benign |
Het |
| Mapkbp1 |
A |
G |
2: 119,855,613 (GRCm39) |
E1438G |
possibly damaging |
Het |
| Med12l |
A |
G |
3: 59,183,438 (GRCm39) |
T1947A |
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,881,937 (GRCm39) |
T60S |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,078,845 (GRCm39) |
I868F |
probably benign |
Het |
| Nbn |
G |
T |
4: 15,983,677 (GRCm39) |
|
probably null |
Het |
| Ncam2 |
G |
T |
16: 81,287,262 (GRCm39) |
S392I |
probably damaging |
Het |
| Nrg3 |
A |
C |
14: 38,092,692 (GRCm39) |
L647* |
probably null |
Het |
| Or10j7 |
A |
T |
1: 173,011,890 (GRCm39) |
L37Q |
possibly damaging |
Het |
| Or2t35 |
T |
C |
14: 14,407,251 (GRCm38) |
S8P |
possibly damaging |
Het |
| Or2y1g |
A |
T |
11: 49,171,185 (GRCm39) |
D70V |
probably damaging |
Het |
| Or8j3c |
T |
A |
2: 86,253,956 (GRCm39) |
|
probably null |
Het |
| Pcdhb9 |
A |
G |
18: 37,534,545 (GRCm39) |
N180D |
possibly damaging |
Het |
| Pcdhga4 |
A |
G |
18: 37,819,972 (GRCm39) |
N507S |
probably damaging |
Het |
| Pdilt |
A |
G |
7: 119,087,174 (GRCm39) |
V492A |
probably benign |
Het |
| Phf12 |
A |
G |
11: 77,914,366 (GRCm39) |
T603A |
possibly damaging |
Het |
| Phox2b |
T |
A |
5: 67,254,928 (GRCm39) |
I174F |
probably benign |
Het |
| Polq |
A |
T |
16: 36,883,215 (GRCm39) |
Q1793L |
possibly damaging |
Het |
| Prmt9 |
T |
C |
8: 78,282,393 (GRCm39) |
F97L |
probably benign |
Het |
| Prpsap1 |
T |
C |
11: 116,384,870 (GRCm39) |
E13G |
probably benign |
Het |
| Ptpru |
A |
G |
4: 131,546,851 (GRCm39) |
L280P |
probably damaging |
Het |
| Pygl |
A |
T |
12: 70,244,180 (GRCm39) |
M587K |
probably benign |
Het |
| Rc3h2 |
T |
C |
2: 37,299,659 (GRCm39) |
S124G |
probably benign |
Het |
| Rdh5 |
A |
G |
10: 128,754,184 (GRCm39) |
I83T |
possibly damaging |
Het |
| Rigi |
A |
G |
4: 40,213,804 (GRCm39) |
V618A |
probably benign |
Het |
| Ryr2 |
T |
G |
13: 11,825,794 (GRCm39) |
R561S |
probably damaging |
Het |
| Scara3 |
A |
G |
14: 66,158,229 (GRCm39) |
L593P |
probably damaging |
Het |
| Scfd2 |
T |
C |
5: 74,692,004 (GRCm39) |
I93V |
probably benign |
Het |
| Sema4f |
C |
A |
6: 82,894,864 (GRCm39) |
V444L |
possibly damaging |
Het |
| Slco1a7 |
T |
A |
6: 141,719,504 (GRCm39) |
M1L |
probably damaging |
Het |
| Spata33 |
T |
C |
8: 123,941,134 (GRCm39) |
L61P |
unknown |
Het |
| Stard10 |
A |
T |
7: 100,992,343 (GRCm39) |
|
probably null |
Het |
| Stub1 |
T |
C |
17: 26,051,038 (GRCm39) |
I115V |
probably benign |
Het |
| Tlcd3b |
T |
C |
7: 126,426,667 (GRCm39) |
F80S |
probably damaging |
Het |
| Tmem247 |
C |
T |
17: 87,225,710 (GRCm39) |
T50I |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,771,223 (GRCm39) |
M1103V |
possibly damaging |
Het |
| Trim61 |
T |
C |
8: 65,466,526 (GRCm39) |
Y245C |
probably benign |
Het |
| Trip13 |
T |
C |
13: 74,068,130 (GRCm39) |
I284V |
probably benign |
Het |
| Trpm4 |
T |
C |
7: 44,976,692 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
A |
2: 76,740,092 (GRCm39) |
L3528F |
unknown |
Het |
| Ttn |
A |
G |
2: 76,560,918 (GRCm39) |
L29161S |
probably damaging |
Het |
| Ube2v2 |
G |
A |
16: 15,398,948 (GRCm39) |
T47I |
probably benign |
Het |
| Vwa5b1 |
C |
T |
4: 138,302,733 (GRCm39) |
A921T |
possibly damaging |
Het |
| Xylt1 |
T |
A |
7: 117,236,829 (GRCm39) |
F526Y |
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 |
|
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'- CAGACGATGAATGAAGCACTATAC -3'
(R):5'- AACTCACTGTGTAGCTGGGG -3'
Sequencing Primer
(F):5'- TATACAGTGAACGAATGAGTGGATCC -3'
(R):5'- GGGTTGACCTTGAACTCCTGATC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation