Incidental Mutation 'R8981:Myorg'
| ID |
683719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myorg
|
| Ensembl Gene |
ENSMUSG00000046312 |
| Gene Name |
myogenesis regulating glycosidase (putative) |
| Synonyms |
NET37, AI464131 |
| MMRRC Submission |
068814-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8981 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
41495604-41503076 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41498209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 474
(S474G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054920]
[ENSMUST00000149596]
|
| AlphaFold |
Q69ZQ1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054920
AA Change: S474G
PolyPhen 2
Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000059038
Gene: ENSMUSG00000046312
AA Change: S474G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
56 |
78 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_31
|
311 |
712 |
9.7e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149596
|
| Meta Mutation Damage Score |
0.0911 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
A |
8: 44,103,840 (GRCm39) |
I602L |
probably benign |
Het |
| Adarb2 |
C |
T |
13: 8,751,653 (GRCm39) |
R473C |
probably damaging |
Het |
| Arrdc3 |
A |
G |
13: 81,038,669 (GRCm39) |
I210M |
probably damaging |
Het |
| C1qb |
T |
C |
4: 136,608,033 (GRCm39) |
D110G |
probably benign |
Het |
| Ccdc86 |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
19: 10,926,162 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,919,457 (GRCm39) |
F112L |
probably benign |
Het |
| Cyp2j13 |
T |
A |
4: 95,965,527 (GRCm39) |
D60V |
possibly damaging |
Het |
| Dcun1d5 |
T |
A |
9: 7,189,205 (GRCm39) |
M98K |
probably damaging |
Het |
| Ecpas |
T |
A |
4: 58,801,796 (GRCm39) |
T1774S |
probably benign |
Het |
| Exosc7 |
T |
C |
9: 122,942,365 (GRCm39) |
V12A |
probably benign |
Het |
| Fcrl2 |
T |
C |
3: 87,164,677 (GRCm39) |
Y283C |
probably damaging |
Het |
| Fgd6 |
A |
G |
10: 93,880,916 (GRCm39) |
D590G |
possibly damaging |
Het |
| Gne |
T |
C |
4: 44,042,261 (GRCm39) |
N469S |
probably benign |
Het |
| Ipo11 |
A |
T |
13: 107,061,633 (GRCm39) |
V9E |
probably benign |
Het |
| Mad1l1 |
T |
C |
5: 140,300,813 (GRCm39) |
T28A |
probably benign |
Het |
| Mcoln3 |
A |
G |
3: 145,827,554 (GRCm39) |
N3D |
probably benign |
Het |
| Mprip |
A |
G |
11: 59,622,383 (GRCm39) |
K157E |
probably damaging |
Het |
| Mthfr |
A |
T |
4: 148,139,451 (GRCm39) |
I588F |
probably benign |
Het |
| Mup15 |
A |
T |
4: 61,357,825 (GRCm39) |
C15* |
probably null |
Het |
| Myom1 |
A |
G |
17: 71,391,316 (GRCm39) |
T942A |
probably benign |
Het |
| Or10ag55-ps1 |
T |
C |
2: 87,115,561 (GRCm39) |
M309T |
probably benign |
Het |
| Or2d3b |
T |
C |
7: 106,513,590 (GRCm39) |
F62L |
probably benign |
Het |
| Phf11c |
G |
A |
14: 59,628,412 (GRCm39) |
S79L |
possibly damaging |
Het |
| Pogz |
T |
A |
3: 94,786,226 (GRCm39) |
V938D |
probably damaging |
Het |
| Ppip5k1 |
C |
T |
2: 121,158,121 (GRCm39) |
|
probably benign |
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| Resf1 |
G |
A |
6: 149,227,997 (GRCm39) |
V348I |
probably benign |
Het |
| Ric3 |
T |
C |
7: 108,657,043 (GRCm39) |
I100V |
probably damaging |
Het |
| Rptor |
T |
G |
11: 119,734,508 (GRCm39) |
S504A |
possibly damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,948,580 (GRCm39) |
T567A |
probably benign |
Het |
| Slfn14 |
A |
T |
11: 83,174,455 (GRCm39) |
F179I |
possibly damaging |
Het |
| Spata31f1a |
T |
C |
4: 42,849,354 (GRCm39) |
H934R |
probably benign |
Het |
| Susd1 |
A |
G |
4: 59,380,883 (GRCm39) |
V326A |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,523,187 (GRCm39) |
W74R |
possibly damaging |
Het |
| Ugt3a1 |
T |
G |
15: 9,312,014 (GRCm39) |
S419A |
probably benign |
Het |
| Vac14 |
A |
G |
8: 111,438,226 (GRCm39) |
E613G |
probably damaging |
Het |
| Vmn1r220 |
C |
A |
13: 23,368,423 (GRCm39) |
R91L |
probably damaging |
Het |
| Vrk1 |
C |
T |
12: 106,036,953 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Myorg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01287:Myorg
|
APN |
4 |
41,498,923 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01352:Myorg
|
APN |
4 |
41,499,469 (GRCm39) |
nonsense |
probably null |
|
|
IGL01384:Myorg
|
APN |
4 |
41,498,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02150:Myorg
|
APN |
4 |
41,499,183 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02557:Myorg
|
APN |
4 |
41,497,900 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0238:Myorg
|
UTSW |
4 |
41,498,912 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0238:Myorg
|
UTSW |
4 |
41,498,912 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0413:Myorg
|
UTSW |
4 |
41,498,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0455:Myorg
|
UTSW |
4 |
41,499,538 (GRCm39) |
nonsense |
probably null |
|
|
R0511:Myorg
|
UTSW |
4 |
41,498,538 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0560:Myorg
|
UTSW |
4 |
41,498,167 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0785:Myorg
|
UTSW |
4 |
41,497,539 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0940:Myorg
|
UTSW |
4 |
41,497,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1677:Myorg
|
UTSW |
4 |
41,497,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1762:Myorg
|
UTSW |
4 |
41,498,553 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1984:Myorg
|
UTSW |
4 |
41,497,501 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2192:Myorg
|
UTSW |
4 |
41,497,704 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2496:Myorg
|
UTSW |
4 |
41,499,165 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4212:Myorg
|
UTSW |
4 |
41,498,307 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4321:Myorg
|
UTSW |
4 |
41,498,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4672:Myorg
|
UTSW |
4 |
41,499,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4890:Myorg
|
UTSW |
4 |
41,498,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4954:Myorg
|
UTSW |
4 |
41,498,241 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5177:Myorg
|
UTSW |
4 |
41,498,407 (GRCm39) |
nonsense |
probably null |
|
|
R5967:Myorg
|
UTSW |
4 |
41,497,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6005:Myorg
|
UTSW |
4 |
41,498,895 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6128:Myorg
|
UTSW |
4 |
41,498,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6162:Myorg
|
UTSW |
4 |
41,497,899 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7202:Myorg
|
UTSW |
4 |
41,498,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7211:Myorg
|
UTSW |
4 |
41,498,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7311:Myorg
|
UTSW |
4 |
41,498,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7524:Myorg
|
UTSW |
4 |
41,498,779 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7680:Myorg
|
UTSW |
4 |
41,497,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Myorg
|
UTSW |
4 |
41,497,568 (GRCm39) |
nonsense |
probably null |
|
|
R8809:Myorg
|
UTSW |
4 |
41,498,812 (GRCm39) |
missense |
probably benign |
|
|
R9257:Myorg
|
UTSW |
4 |
41,499,030 (GRCm39) |
missense |
probably benign |
|
|
X0024:Myorg
|
UTSW |
4 |
41,498,107 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1088:Myorg
|
UTSW |
4 |
41,497,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATACTGACGGTGAGCAC -3'
(R):5'- ATAACTCGTCGAGCTTCGGC -3'
Sequencing Primer
(F):5'- CGCAGGGATAAGAGAGCGC -3'
(R):5'- AGCTTCGGCGAAGGTGTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation