Incidental Mutation 'IGL02064:Musk'
ID 283309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Musk
Ensembl Gene ENSMUSG00000057280
Gene Name muscle, skeletal, receptor tyrosine kinase
Synonyms Nsk1, MDK4, Nsk2, Nsk3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02064
Quality Score
Status
Chromosome 4
Chromosomal Location 58285960-58374303 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58286128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 6 (N6S)
Ref Sequence ENSEMBL: ENSMUSP00000095667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081919] [ENSMUST00000084578] [ENSMUST00000098057] [ENSMUST00000098059] [ENSMUST00000102893] [ENSMUST00000177951] [ENSMUST00000179951]
AlphaFold Q61006
Predicted Effect probably benign
Transcript: ENSMUST00000081919
AA Change: N6S

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000080590
Gene: ENSMUSG00000057280
AA Change: N6S

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000084578
AA Change: N6S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000081625
Gene: ENSMUSG00000057280
AA Change: N6S

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000098057
AA Change: N6S

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000095665
Gene: ENSMUSG00000057280
AA Change: N6S

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000098059
AA Change: N6S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095667
Gene: ENSMUSG00000057280
AA Change: N6S

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000102893
AA Change: N6S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099957
Gene: ENSMUSG00000057280
AA Change: N6S

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000135879
Predicted Effect probably benign
Transcript: ENSMUST00000177951
AA Change: N6S

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000136696
Gene: ENSMUSG00000057280
AA Change: N6S

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000179951
AA Change: N6S

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000137453
Gene: ENSMUSG00000057280
AA Change: N6S

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T C 3: 59,784,463 (GRCm39) L312P probably damaging Het
Acap2 A C 16: 30,946,146 (GRCm39) W284G probably damaging Het
Acsf3 T C 8: 123,506,986 (GRCm39) L93P possibly damaging Het
Agbl2 G T 2: 90,614,368 (GRCm39) probably benign Het
Arap3 C T 18: 38,124,754 (GRCm39) G242D probably damaging Het
Asxl3 G A 18: 22,657,401 (GRCm39) V1804I possibly damaging Het
Bnc1 C A 7: 81,623,251 (GRCm39) V659L probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Car9 A G 4: 43,507,363 (GRCm39) E103G probably benign Het
Chrm4 A G 2: 91,758,176 (GRCm39) T195A probably damaging Het
Cldn10 T C 14: 119,092,424 (GRCm39) I8T probably damaging Het
Col12a1 G A 9: 79,599,654 (GRCm39) S833F probably benign Het
Cryba2 T A 1: 74,929,720 (GRCm39) D139V possibly damaging Het
Emp1 T A 6: 135,354,210 (GRCm39) M1K probably null Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Exosc4 C A 15: 76,213,836 (GRCm39) A220E probably damaging Het
Fryl A G 5: 73,282,112 (GRCm39) probably benign Het
Grid2 C T 6: 64,040,919 (GRCm39) T287I probably benign Het
Grifin C T 5: 140,550,494 (GRCm39) A7T probably damaging Het
Gzmg T C 14: 56,394,798 (GRCm39) K157E probably benign Het
Kcnq2 A T 2: 180,750,819 (GRCm39) I340N probably damaging Het
Klrb1 T A 6: 128,687,600 (GRCm39) H98L probably benign Het
Krt90 T C 15: 101,471,088 (GRCm39) H58R possibly damaging Het
Krtap5-2 C A 7: 141,729,468 (GRCm39) G71C unknown Het
Krtap7-1 A T 16: 89,305,011 (GRCm39) M47K probably benign Het
Lmntd1 T A 6: 145,373,002 (GRCm39) probably null Het
Ly6g2 A G 15: 75,093,505 (GRCm39) probably benign Het
Or2aj4 A G 16: 19,385,298 (GRCm39) C112R probably damaging Het
Or51a39 A G 7: 102,362,808 (GRCm39) F271L probably damaging Het
Or56a42-ps1 A T 7: 104,776,241 (GRCm39) F89Y possibly damaging Het
Or5p58 T G 7: 107,694,454 (GRCm39) T108P probably benign Het
Or8c15 T A 9: 38,120,874 (GRCm39) I122N probably damaging Het
Pcdh19 A G X: 132,586,719 (GRCm39) M432T probably benign Het
Prdm1 A G 10: 44,317,338 (GRCm39) F495S probably damaging Het
Prkar2a T C 9: 108,610,403 (GRCm39) Y211H possibly damaging Het
Ralgapa1 C A 12: 55,754,862 (GRCm39) G1143V probably damaging Het
Rbbp7 A G X: 161,552,783 (GRCm39) probably null Het
Scel C A 14: 103,770,762 (GRCm39) H65Q probably damaging Het
Sec24d T C 3: 123,137,463 (GRCm39) probably benign Het
Sfswap C A 5: 129,637,860 (GRCm39) T839N probably benign Het
Slc15a1 T C 14: 121,699,911 (GRCm39) I636V possibly damaging Het
Slc15a1 G T 14: 121,699,886 (GRCm39) P644H probably benign Het
Slc6a21 T A 7: 44,935,883 (GRCm39) I38N possibly damaging Het
Sucla2 C T 14: 73,816,913 (GRCm39) Q218* probably null Het
Tbc1d14 A T 5: 36,665,019 (GRCm39) L237* probably null Het
Trpm7 C T 2: 126,639,863 (GRCm39) E1578K probably damaging Het
Ttc17 G A 2: 94,161,012 (GRCm39) T896I probably damaging Het
Virma A G 4: 11,513,163 (GRCm39) D339G possibly damaging Het
Vmn2r54 T A 7: 12,349,533 (GRCm39) Y683F probably benign Het
Xrra1 T A 7: 99,563,411 (GRCm39) L466Q probably damaging Het
Other mutations in Musk
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5596:Musk UTSW 4 58,373,036 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16