Incidental Mutation 'R6665:Myod1'
| ID |
526932 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myod1
|
| Ensembl Gene |
ENSMUSG00000009471 |
| Gene Name |
myogenic differentiation 1 |
| Synonyms |
bHLHc1, MYF3, Myod-1, MyoD |
| MMRRC Submission |
044785-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.882)
|
| Stock # |
R6665 (G1)
|
| Quality Score |
98.0078 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
46025898-46028516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46026281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 62
(H62L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072514]
|
| AlphaFold |
P10085 |
| PDB Structure |
CRYSTAL STRUCTURE OF MYOD BHLH DOMAIN BOUND TO DNA: PERSPECTIVES ON DNA RECOGNITION AND IMPLICATIONS FOR TRANSCRIPTIONAL ACTIVATION [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072514
AA Change: H62L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000072330
Gene: ENSMUSG00000009471
AA Change: H62L
| Domain | Start | End | E-Value | Type |
|---|
|
BASIC
|
1 |
114 |
1.29e-62 |
SMART |
|
HLH
|
115 |
166 |
1.44e-15 |
SMART |
|
low complexity region
|
169 |
186 |
N/A |
INTRINSIC |
|
Pfam:Myf5
|
190 |
258 |
1.6e-27 |
PFAM |
|
low complexity region
|
261 |
286 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal muscle development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
A |
G |
9: 30,815,775 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
T |
G |
13: 70,927,689 (GRCm39) |
K517Q |
probably damaging |
Het |
| Atp9b |
A |
C |
18: 80,960,950 (GRCm39) |
V87G |
probably benign |
Het |
| Avil |
A |
G |
10: 126,856,394 (GRCm39) |
K808E |
probably damaging |
Het |
| Bin2 |
T |
C |
15: 100,554,676 (GRCm39) |
E49G |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,508,092 (GRCm39) |
Y652C |
probably damaging |
Het |
| Cd6 |
T |
C |
19: 10,768,367 (GRCm39) |
N541D |
probably benign |
Het |
| Col28a1 |
A |
G |
6: 8,062,277 (GRCm39) |
V671A |
probably benign |
Het |
| Dock6 |
C |
T |
9: 21,751,208 (GRCm39) |
C355Y |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,183,205 (GRCm39) |
F71S |
probably damaging |
Het |
| Dusp8 |
G |
A |
7: 141,643,842 (GRCm39) |
P24S |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,107,098 (GRCm39) |
Y1151C |
probably benign |
Het |
| Fhip2b |
A |
T |
14: 70,823,078 (GRCm39) |
L659Q |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,562,077 (GRCm39) |
Y810C |
probably damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Hexb |
T |
C |
13: 97,315,893 (GRCm39) |
N380D |
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,751,592 (GRCm39) |
E1498G |
possibly damaging |
Het |
| Lrif1 |
T |
A |
3: 106,642,659 (GRCm39) |
|
probably null |
Het |
| Myo9a |
G |
T |
9: 59,779,155 (GRCm39) |
G1637V |
probably benign |
Het |
| Myoz3 |
A |
C |
18: 60,709,495 (GRCm39) |
L222R |
probably damaging |
Het |
| Naca |
T |
A |
10: 127,884,227 (GRCm39) |
N2180K |
probably damaging |
Het |
| Or6c76 |
T |
C |
10: 129,612,116 (GRCm39) |
F111S |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 98,955,702 (GRCm39) |
V405A |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,603,914 (GRCm39) |
|
probably null |
Het |
| Rab32 |
T |
C |
10: 10,433,846 (GRCm39) |
|
probably benign |
Het |
| Serpinb10 |
A |
C |
1: 107,474,597 (GRCm39) |
N253T |
possibly damaging |
Het |
| Slc13a5 |
C |
T |
11: 72,151,186 (GRCm39) |
V131I |
probably damaging |
Het |
| Slc25a40 |
A |
G |
5: 8,502,788 (GRCm39) |
N290S |
probably benign |
Het |
| Slc6a6 |
T |
C |
6: 91,703,020 (GRCm39) |
V131A |
probably benign |
Het |
| Spef2 |
A |
T |
15: 9,600,604 (GRCm39) |
|
probably null |
Het |
| Stxbp2 |
A |
G |
8: 3,691,998 (GRCm39) |
M547V |
probably benign |
Het |
| Tmem247 |
A |
T |
17: 87,225,998 (GRCm39) |
Q146L |
probably benign |
Het |
| Vmn2r67 |
T |
C |
7: 84,785,900 (GRCm39) |
I702V |
probably benign |
Het |
| Zmynd15 |
T |
C |
11: 70,355,636 (GRCm39) |
S436P |
probably benign |
Het |
|
| Other mutations in Myod1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01545:Myod1
|
APN |
7 |
46,026,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02226:Myod1
|
APN |
7 |
46,027,730 (GRCm39) |
missense |
probably benign |
|
|
R0193:Myod1
|
UTSW |
7 |
46,026,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Myod1
|
UTSW |
7 |
46,026,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5107:Myod1
|
UTSW |
7 |
46,027,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5699:Myod1
|
UTSW |
7 |
46,026,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5985:Myod1
|
UTSW |
7 |
46,027,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6362:Myod1
|
UTSW |
7 |
46,026,305 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6786:Myod1
|
UTSW |
7 |
46,027,741 (GRCm39) |
missense |
probably benign |
|
|
R7295:Myod1
|
UTSW |
7 |
46,027,643 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7542:Myod1
|
UTSW |
7 |
46,026,097 (GRCm39) |
start codon destroyed |
probably benign |
0.41 |
|
R8862:Myod1
|
UTSW |
7 |
46,026,487 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9149:Myod1
|
UTSW |
7 |
46,026,593 (GRCm39) |
missense |
|
|
|
R9297:Myod1
|
UTSW |
7 |
46,026,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9318:Myod1
|
UTSW |
7 |
46,026,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9710:Myod1
|
UTSW |
7 |
46,026,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAACTGGGATATGGAGCTTC -3'
(R):5'- CTCGAAGGCCTCATTCACTTTG -3'
Sequencing Primer
(F):5'- GATATGGAGCTTCTATCGCCGC -3'
(R):5'- ATTCACTTTGCTCAGGCGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation