Incidental Mutation 'R5596:Musk'
| ID |
437819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Musk
|
| Ensembl Gene |
ENSMUSG00000057280 |
| Gene Name |
muscle, skeletal, receptor tyrosine kinase |
| Synonyms |
Nsk1, MDK4, Nsk2, Nsk3 |
| MMRRC Submission |
043148-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5596 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
58285960-58374303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58373036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 654
(C654R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081919]
[ENSMUST00000084578]
[ENSMUST00000098057]
[ENSMUST00000098059]
[ENSMUST00000102893]
[ENSMUST00000177951]
[ENSMUST00000179951]
|
| AlphaFold |
Q61006 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081919
AA Change: C644R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080590
Gene: ENSMUSG00000057280
AA Change: C644R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IGc2
|
40 |
106 |
1.16e-8 |
SMART |
|
IGc2
|
133 |
197 |
1.79e-14 |
SMART |
|
IGc2
|
224 |
289 |
4.67e-4 |
SMART |
|
Pfam:Fz
|
317 |
448 |
1.1e-27 |
PFAM |
|
transmembrane domain
|
495 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
567 |
N/A |
INTRINSIC |
|
TyrKc
|
574 |
855 |
2.96e-140 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084578
AA Change: C644R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081625
Gene: ENSMUSG00000057280
AA Change: C644R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IGc2
|
40 |
106 |
1.16e-8 |
SMART |
|
IGc2
|
133 |
197 |
1.79e-14 |
SMART |
|
IGc2
|
224 |
289 |
4.67e-4 |
SMART |
|
Pfam:Fz
|
317 |
448 |
1.2e-28 |
PFAM |
|
transmembrane domain
|
495 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
567 |
N/A |
INTRINSIC |
|
TyrKc
|
574 |
855 |
2.96e-140 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098057
AA Change: C669R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095665
Gene: ENSMUSG00000057280
AA Change: C669R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IGc2
|
40 |
106 |
1.16e-8 |
SMART |
|
IGc2
|
133 |
197 |
1.79e-14 |
SMART |
|
IGc2
|
234 |
299 |
4.67e-4 |
SMART |
|
Pfam:Fz
|
342 |
467 |
1.4e-15 |
PFAM |
|
transmembrane domain
|
520 |
542 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
592 |
N/A |
INTRINSIC |
|
TyrKc
|
599 |
880 |
2.96e-140 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098059
AA Change: C646R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095667
Gene: ENSMUSG00000057280
AA Change: C646R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IGc2
|
40 |
106 |
1.16e-8 |
SMART |
|
IGc2
|
133 |
197 |
1.79e-14 |
SMART |
|
IGc2
|
234 |
299 |
4.67e-4 |
SMART |
|
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
|
Pfam:Fz
|
327 |
458 |
2.1e-28 |
PFAM |
|
transmembrane domain
|
497 |
519 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
569 |
N/A |
INTRINSIC |
|
TyrKc
|
576 |
857 |
2.96e-140 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102893
AA Change: C636R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099957
Gene: ENSMUSG00000057280
AA Change: C636R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IGc2
|
40 |
106 |
1.16e-8 |
SMART |
|
IGc2
|
133 |
197 |
1.79e-14 |
SMART |
|
IGc2
|
224 |
289 |
4.67e-4 |
SMART |
|
Pfam:Fz
|
317 |
448 |
1.1e-27 |
PFAM |
|
transmembrane domain
|
487 |
509 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
559 |
N/A |
INTRINSIC |
|
TyrKc
|
566 |
847 |
2.96e-140 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177951
AA Change: C646R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136696
Gene: ENSMUSG00000057280
AA Change: C646R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IGc2
|
40 |
106 |
1.16e-8 |
SMART |
|
IGc2
|
133 |
197 |
1.79e-14 |
SMART |
|
IGc2
|
234 |
299 |
4.67e-4 |
SMART |
|
Pfam:Fz
|
327 |
458 |
1.1e-27 |
PFAM |
|
transmembrane domain
|
497 |
519 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
569 |
N/A |
INTRINSIC |
|
TyrKc
|
576 |
857 |
2.96e-140 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179951
AA Change: C654R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137453
Gene: ENSMUSG00000057280
AA Change: C654R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IGc2
|
40 |
106 |
1.16e-8 |
SMART |
|
IGc2
|
133 |
197 |
1.79e-14 |
SMART |
|
IGc2
|
234 |
299 |
4.67e-4 |
SMART |
|
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
|
Pfam:Fz
|
327 |
458 |
1.2e-27 |
PFAM |
|
transmembrane domain
|
505 |
527 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
568 |
577 |
N/A |
INTRINSIC |
|
TyrKc
|
584 |
865 |
2.96e-140 |
SMART |
|
| Meta Mutation Damage Score |
0.8960 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.9%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the protein tyrosine kinase family. The encoded protein is a type 1 receptor-like protein located in muscle membrane that is activated by the heparan sulfate proteoglycan agrin released by nerve cells. The encoded protein activates signaling cascades responsible for multiple aspects of motor neuron and muscle development, including organization of the postsynaptic membrane, synaptic gene transcription, patterning of skeletal muscle, anchoring of acetylcholinesterase, and guidance of motor axons. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation lack neuromuscular synapses and spontaneous movement, and die at birth of respiratory failure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 120,000,972 (GRCm39) |
M1503V |
possibly damaging |
Het |
| Abraxas1 |
A |
T |
5: 100,966,403 (GRCm39) |
V53D |
probably damaging |
Het |
| Bub1b |
T |
C |
2: 118,461,463 (GRCm39) |
S672P |
probably damaging |
Het |
| C1qtnf7 |
A |
T |
5: 43,673,313 (GRCm39) |
|
probably benign |
Het |
| Cacng7 |
A |
T |
7: 3,415,420 (GRCm39) |
I262F |
probably benign |
Het |
| Capzb |
T |
G |
4: 139,006,738 (GRCm39) |
|
probably benign |
Het |
| Ccdc149 |
A |
G |
5: 52,561,493 (GRCm39) |
V229A |
probably damaging |
Het |
| Cfap69 |
A |
G |
5: 5,676,020 (GRCm39) |
L225P |
probably damaging |
Het |
| Cftr |
A |
G |
6: 18,268,095 (GRCm39) |
T685A |
probably benign |
Het |
| Col12a1 |
G |
A |
9: 79,611,041 (GRCm39) |
T177M |
probably damaging |
Het |
| Creb3l3 |
T |
G |
10: 80,920,881 (GRCm39) |
D383A |
probably benign |
Het |
| Cyp2j8 |
T |
A |
4: 96,395,578 (GRCm39) |
I16F |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,343,754 (GRCm39) |
A2385S |
probably damaging |
Het |
| Enox1 |
A |
G |
14: 77,816,493 (GRCm39) |
I158V |
probably benign |
Het |
| Erich3 |
A |
T |
3: 154,433,033 (GRCm39) |
T139S |
probably damaging |
Het |
| Fam186b |
A |
T |
15: 99,169,170 (GRCm39) |
S926T |
possibly damaging |
Het |
| Gjd2 |
C |
A |
2: 113,841,965 (GRCm39) |
V171F |
possibly damaging |
Het |
| Helz2 |
A |
T |
2: 180,879,082 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
TTN |
9: 66,341,345 (GRCm39) |
|
probably benign |
Het |
| Impg1 |
A |
T |
9: 80,252,500 (GRCm39) |
V483E |
probably benign |
Het |
| Irx4 |
A |
G |
13: 73,415,799 (GRCm39) |
N196S |
probably damaging |
Het |
| Kcnip1 |
T |
C |
11: 33,580,597 (GRCm39) |
D213G |
probably damaging |
Het |
| Lmntd1 |
T |
A |
6: 145,359,140 (GRCm39) |
T191S |
probably benign |
Het |
| Med12l |
T |
A |
3: 59,159,771 (GRCm39) |
N1273K |
probably benign |
Het |
| Nlrp4d |
A |
T |
7: 10,115,951 (GRCm39) |
S274T |
noncoding transcript |
Het |
| Omd |
A |
G |
13: 49,745,814 (GRCm39) |
H408R |
probably benign |
Het |
| Pbld2 |
C |
T |
10: 62,907,791 (GRCm39) |
A219V |
probably damaging |
Het |
| Pramel22 |
T |
A |
4: 143,381,025 (GRCm39) |
T333S |
probably damaging |
Het |
| Pramel32 |
C |
T |
4: 88,548,292 (GRCm39) |
E38K |
probably damaging |
Het |
| Ptpn1 |
T |
C |
2: 167,816,683 (GRCm39) |
I246T |
probably damaging |
Het |
| Sap18b |
G |
T |
8: 96,551,998 (GRCm39) |
A3S |
unknown |
Het |
| Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
| Sstr4 |
G |
T |
2: 148,237,652 (GRCm39) |
V88F |
possibly damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Tmcc2 |
T |
C |
1: 132,288,221 (GRCm39) |
N489D |
probably damaging |
Het |
| Tnfrsf9 |
T |
C |
4: 151,014,331 (GRCm39) |
V10A |
probably benign |
Het |
| Tnxb |
T |
A |
17: 34,907,778 (GRCm39) |
V1274E |
probably damaging |
Het |
| Ube3b |
T |
A |
5: 114,544,221 (GRCm39) |
|
probably null |
Het |
| Vwa5a |
A |
T |
9: 38,633,874 (GRCm39) |
I26F |
probably damaging |
Het |
|
| Other mutations in Musk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01406:Musk
|
APN |
4 |
58,367,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01727:Musk
|
APN |
4 |
58,303,887 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01981:Musk
|
APN |
4 |
58,296,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02064:Musk
|
APN |
4 |
58,286,128 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02326:Musk
|
APN |
4 |
58,354,113 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02475:Musk
|
APN |
4 |
58,353,936 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
IGL02585:Musk
|
APN |
4 |
58,347,849 (GRCm39) |
missense |
probably benign |
|
|
IGL02719:Musk
|
APN |
4 |
58,356,496 (GRCm39) |
missense |
probably benign |
|
|
IGL02797:Musk
|
APN |
4 |
58,366,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02869:Musk
|
APN |
4 |
58,354,078 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02940:Musk
|
APN |
4 |
58,373,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03167:Musk
|
APN |
4 |
58,366,821 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03230:Musk
|
APN |
4 |
58,296,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB002:Musk
|
UTSW |
4 |
58,367,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB012:Musk
|
UTSW |
4 |
58,367,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0384:Musk
|
UTSW |
4 |
58,373,711 (GRCm39) |
makesense |
probably null |
|
|
R1014:Musk
|
UTSW |
4 |
58,354,156 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1462:Musk
|
UTSW |
4 |
58,286,204 (GRCm39) |
splice site |
probably benign |
|
|
R1493:Musk
|
UTSW |
4 |
58,354,003 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1739:Musk
|
UTSW |
4 |
58,293,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1883:Musk
|
UTSW |
4 |
58,373,189 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2230:Musk
|
UTSW |
4 |
58,333,672 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2914:Musk
|
UTSW |
4 |
58,366,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3508:Musk
|
UTSW |
4 |
58,327,347 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4225:Musk
|
UTSW |
4 |
58,373,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4601:Musk
|
UTSW |
4 |
58,301,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4771:Musk
|
UTSW |
4 |
58,301,706 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4793:Musk
|
UTSW |
4 |
58,373,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4845:Musk
|
UTSW |
4 |
58,296,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4919:Musk
|
UTSW |
4 |
58,366,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4954:Musk
|
UTSW |
4 |
58,344,222 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5715:Musk
|
UTSW |
4 |
58,333,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5894:Musk
|
UTSW |
4 |
58,373,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5934:Musk
|
UTSW |
4 |
58,373,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6230:Musk
|
UTSW |
4 |
58,367,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6335:Musk
|
UTSW |
4 |
58,366,811 (GRCm39) |
missense |
probably benign |
|
|
R6358:Musk
|
UTSW |
4 |
58,373,171 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6395:Musk
|
UTSW |
4 |
58,286,169 (GRCm39) |
missense |
probably benign |
|
|
R6652:Musk
|
UTSW |
4 |
58,368,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6764:Musk
|
UTSW |
4 |
58,354,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7233:Musk
|
UTSW |
4 |
58,373,307 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7238:Musk
|
UTSW |
4 |
58,344,312 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7271:Musk
|
UTSW |
4 |
58,373,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7511:Musk
|
UTSW |
4 |
58,333,672 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7925:Musk
|
UTSW |
4 |
58,367,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8085:Musk
|
UTSW |
4 |
58,373,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8243:Musk
|
UTSW |
4 |
58,293,600 (GRCm39) |
missense |
probably benign |
|
|
R8249:Musk
|
UTSW |
4 |
58,368,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8501:Musk
|
UTSW |
4 |
58,367,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8671:Musk
|
UTSW |
4 |
58,286,051 (GRCm39) |
start gained |
probably benign |
|
|
R8672:Musk
|
UTSW |
4 |
58,286,051 (GRCm39) |
start gained |
probably benign |
|
|
R8839:Musk
|
UTSW |
4 |
58,286,151 (GRCm39) |
missense |
probably benign |
|
|
R8927:Musk
|
UTSW |
4 |
58,301,638 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8928:Musk
|
UTSW |
4 |
58,301,638 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8988:Musk
|
UTSW |
4 |
58,354,032 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9167:Musk
|
UTSW |
4 |
58,296,687 (GRCm39) |
missense |
probably benign |
0.30 |
|
X0020:Musk
|
UTSW |
4 |
58,368,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Musk
|
UTSW |
4 |
58,327,356 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGACTCTTACTAGATAACGGGATG -3'
(R):5'- ACTTGCGCTCTGAAAGGTAGG -3'
Sequencing Primer
(F):5'- TGTTTAAGTAAAGACGTGGGAGTC -3'
(R):5'- CTGGCAATGCAGAGCTGTTC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation