Incidental Mutation 'IGL01935:Myom3'
| ID |
180608 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Myom3
|
| Ensembl Gene |
ENSMUSG00000037139 |
| Gene Name |
myomesin family, member 3 |
| Synonyms |
8430427K15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
IGL01935
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
135487026-135542875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 135515692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 794
(F794I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105854]
|
| AlphaFold |
A2ABU4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105854
AA Change: F794I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: F794I
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp2 |
C |
T |
6: 140,583,383 (GRCm39) |
|
probably benign |
Het |
| Akr1c12 |
A |
T |
13: 4,322,244 (GRCm39) |
V266E |
probably damaging |
Het |
| Arhgef1 |
A |
G |
7: 24,621,307 (GRCm39) |
T186A |
probably damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,366,638 (GRCm39) |
T801A |
probably benign |
Het |
| Card11 |
T |
A |
5: 140,869,301 (GRCm39) |
I832F |
possibly damaging |
Het |
| Catsperg1 |
T |
C |
7: 28,895,296 (GRCm39) |
|
probably null |
Het |
| Ccdc180 |
A |
G |
4: 45,906,889 (GRCm39) |
T455A |
possibly damaging |
Het |
| Cfhr1 |
T |
A |
1: 139,478,740 (GRCm39) |
Y210F |
probably benign |
Het |
| Chrna5 |
T |
C |
9: 54,912,127 (GRCm39) |
V309A |
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,345,521 (GRCm39) |
V609A |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,037,126 (GRCm39) |
D3372G |
probably benign |
Het |
| Dtymk |
T |
C |
1: 93,722,465 (GRCm39) |
K113E |
probably benign |
Het |
| Eef2k |
T |
C |
7: 120,485,054 (GRCm39) |
F307S |
probably damaging |
Het |
| Flnc |
T |
A |
6: 29,454,279 (GRCm39) |
V1864E |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,803,541 (GRCm39) |
Y2192C |
probably benign |
Het |
| Hkdc1 |
A |
T |
10: 62,236,165 (GRCm39) |
V459E |
probably damaging |
Het |
| Iqsec3 |
T |
C |
6: 121,360,951 (GRCm39) |
D969G |
probably damaging |
Het |
| Irf3 |
A |
G |
7: 44,650,194 (GRCm39) |
T237A |
probably benign |
Het |
| Jade2 |
G |
A |
11: 51,719,211 (GRCm39) |
T245I |
possibly damaging |
Het |
| Kctd8 |
A |
G |
5: 69,497,707 (GRCm39) |
I313T |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,385,284 (GRCm39) |
S835R |
probably benign |
Het |
| Lama2 |
A |
C |
10: 27,298,600 (GRCm39) |
H165Q |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,158,367 (GRCm39) |
N1617Y |
probably damaging |
Het |
| Mcc |
C |
T |
18: 44,652,583 (GRCm39) |
|
probably null |
Het |
| Mfsd14b |
T |
A |
13: 65,215,739 (GRCm39) |
M405L |
probably benign |
Het |
| Napsa |
G |
T |
7: 44,236,046 (GRCm39) |
A362S |
probably benign |
Het |
| Ncf4 |
A |
T |
15: 78,140,186 (GRCm39) |
D195V |
probably damaging |
Het |
| Or11g1 |
T |
C |
14: 50,651,012 (GRCm39) |
F4L |
probably benign |
Het |
| Pank4 |
T |
G |
4: 155,063,987 (GRCm39) |
D659E |
probably damaging |
Het |
| Pcnx1 |
T |
A |
12: 81,964,590 (GRCm39) |
D252E |
probably benign |
Het |
| Pglyrp2 |
G |
A |
17: 32,637,551 (GRCm39) |
A159V |
probably benign |
Het |
| Phaf1 |
T |
C |
8: 105,966,633 (GRCm39) |
F127L |
probably damaging |
Het |
| Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
| Ppfia4 |
A |
G |
1: 134,245,674 (GRCm39) |
S627P |
probably benign |
Het |
| Ppp1r15b |
T |
C |
1: 133,059,761 (GRCm39) |
F93L |
probably benign |
Het |
| Pramel13 |
C |
T |
4: 144,119,172 (GRCm39) |
|
probably benign |
Het |
| Qrfpr |
A |
T |
3: 36,235,200 (GRCm39) |
|
probably null |
Het |
| Rapgef4 |
C |
A |
2: 72,064,467 (GRCm39) |
T623K |
probably benign |
Het |
| Rapgef6 |
A |
G |
11: 54,501,668 (GRCm39) |
T184A |
possibly damaging |
Het |
| Ssrp1 |
T |
C |
2: 84,877,056 (GRCm39) |
*709Q |
probably null |
Het |
| St7 |
T |
G |
6: 17,930,822 (GRCm39) |
I442S |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,972,087 (GRCm39) |
H992Q |
probably damaging |
Het |
| Syt14 |
T |
C |
1: 192,615,679 (GRCm39) |
R436G |
probably damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,270,793 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,317,418 (GRCm39) |
N1630I |
probably damaging |
Het |
| Tinagl1 |
T |
C |
4: 130,061,794 (GRCm39) |
K180R |
probably damaging |
Het |
| Tmed7 |
T |
C |
18: 46,730,190 (GRCm39) |
T54A |
probably benign |
Het |
| Tmprss2 |
A |
T |
16: 97,379,795 (GRCm39) |
Y48* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,020,069 (GRCm39) |
|
probably null |
Het |
| Unc13d |
T |
C |
11: 115,960,577 (GRCm39) |
M496V |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zbtb39 |
A |
G |
10: 127,578,235 (GRCm39) |
T270A |
probably benign |
Het |
| Zfr |
T |
C |
15: 12,180,798 (GRCm39) |
S976P |
probably benign |
Het |
| Zscan29 |
A |
G |
2: 121,000,538 (GRCm39) |
F23S |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation