Incidental Mutation 'IGL01981:Musk'
ID 183510
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 # IGL01981
Quality Score
Status
Chromosome 4
Chromosomal Location 58285960-58374303 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 58296629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 76 (S76R)
Ref Sequence ENSEMBL: ENSMUSP00000137453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081919] [ENSMUST00000084578] [ENSMUST00000098057] [ENSMUST00000098059] [ENSMUST00000102893] [ENSMUST00000179951] [ENSMUST00000177951]
AlphaFold Q61006
Predicted Effect probably damaging
Transcript: ENSMUST00000081919
AA Change: S76R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080590
Gene: ENSMUSG00000057280
AA Change: S76R

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 damaging
Transcript: ENSMUST00000084578
AA Change: S76R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081625
Gene: ENSMUSG00000057280
AA Change: S76R

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 damaging
Transcript: ENSMUST00000098057
AA Change: S76R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095665
Gene: ENSMUSG00000057280
AA Change: S76R

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 probably damaging
Transcript: ENSMUST00000098059
AA Change: S76R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095667
Gene: ENSMUSG00000057280
AA Change: S76R

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 damaging
Transcript: ENSMUST00000102893
AA Change: S76R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099957
Gene: ENSMUSG00000057280
AA Change: S76R

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 damaging
Transcript: ENSMUST00000179951
AA Change: S76R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000137453
Gene: ENSMUSG00000057280
AA Change: S76R

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
Predicted Effect probably damaging
Transcript: ENSMUST00000177951
AA Change: S76R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136696
Gene: ENSMUSG00000057280
AA Change: S76R

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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A C 7: 27,337,499 (GRCm39) D417A probably benign Het
Ap1b1 T A 11: 4,969,336 (GRCm39) S231T possibly damaging Het
Arhgap31 G A 16: 38,421,935 (GRCm39) T1377I probably damaging Het
Cdkl3 A G 11: 51,895,896 (GRCm39) T48A probably benign Het
Chd3 T C 11: 69,251,501 (GRCm39) Y510C probably damaging Het
Chml A G 1: 175,515,751 (GRCm39) S57P probably damaging Het
Cpxm1 G T 2: 130,236,060 (GRCm39) C367* probably null Het
D930020B18Rik A G 10: 121,528,319 (GRCm39) T428A probably damaging Het
Dnaja3 A T 16: 4,519,033 (GRCm39) I325F probably damaging Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Erbb3 A G 10: 128,407,519 (GRCm39) V943A probably benign Het
Fam110b A G 4: 5,799,481 (GRCm39) I300V probably benign Het
Fam193a A G 5: 34,588,537 (GRCm39) E76G probably damaging Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Furin A G 7: 80,042,647 (GRCm39) L380P probably damaging Het
Fxr2 A C 11: 69,541,328 (GRCm39) I354L possibly damaging Het
Garnl3 G T 2: 32,887,741 (GRCm39) N756K probably damaging Het
Gimap1 A G 6: 48,720,258 (GRCm39) Y290C probably damaging Het
Gm5592 G A 7: 40,935,795 (GRCm39) W99* probably null Het
Hexd G T 11: 121,107,819 (GRCm39) S183I possibly damaging Het
Hmg20a C T 9: 56,384,514 (GRCm39) P95S probably damaging Het
Jhy A T 9: 40,806,842 (GRCm39) I769N probably damaging Het
Lrrd1 G T 5: 3,901,267 (GRCm39) C524F probably damaging Het
Myom3 C T 4: 135,513,160 (GRCm39) R613* probably null Het
Naa16 T A 14: 79,618,956 (GRCm39) E172D probably benign Het
Obox6 A T 7: 15,568,846 (GRCm39) M10K possibly damaging Het
Or5al5 A T 2: 85,961,174 (GRCm39) Y278N probably benign Het
Pam C T 1: 97,762,166 (GRCm39) V700M probably damaging Het
Phf8-ps C T 17: 33,286,628 (GRCm39) G58E probably damaging Het
Pkd1l2 C A 8: 117,743,655 (GRCm39) R1978L probably benign Het
Pkhd1 T A 1: 20,593,791 (GRCm39) T1441S possibly damaging Het
Plg A G 17: 12,621,934 (GRCm39) probably benign Het
Pot1a A G 6: 25,750,099 (GRCm39) L521P probably damaging Het
Pramel14 G A 4: 143,720,924 (GRCm39) P6S probably damaging Het
Ptprj A T 2: 90,270,256 (GRCm39) V1280E probably damaging Het
Rcbtb2 T C 14: 73,402,222 (GRCm39) S136P possibly damaging Het
Rtl1 C T 12: 109,558,369 (GRCm39) E1157K possibly damaging Het
Sell G A 1: 163,893,195 (GRCm39) R137Q probably benign Het
Shisa9 A T 16: 12,062,522 (GRCm39) M248L probably benign Het
Spag17 A G 3: 99,966,149 (GRCm39) E1144G probably benign Het
Sphk2 G T 7: 45,360,157 (GRCm39) Q616K probably benign Het
Tecrl T C 5: 83,442,453 (GRCm39) T207A probably benign Het
Ubr5 T C 15: 37,996,842 (GRCm39) T1885A probably benign Het
Usp24 T C 4: 106,232,965 (GRCm39) probably benign Het
Usp32 A G 11: 84,927,350 (GRCm39) M622T probably benign Het
Vangl1 A G 3: 102,091,607 (GRCm39) F160L probably damaging Het
Vps13d T C 4: 144,813,317 (GRCm39) S3289G probably damaging Het
Wdfy4 A G 14: 32,855,673 (GRCm39) F647S probably damaging Het
Wdhd1 A G 14: 47,498,907 (GRCm39) L509P probably damaging Het
Zcchc2 A G 1: 105,955,229 (GRCm39) E640G probably damaging Het
Zfp563 T A 17: 33,324,383 (GRCm39) I326N probably benign 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
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
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 2014-05-07