Incidental Mutation 'R6335:Musk'
ID 512897
Institutional Source Beutler Lab
Gene Symbol Musk
Ensembl Gene ENSMUSG00000057280
Gene Name muscle, skeletal, receptor tyrosine kinase
Synonyms Nsk1, MDK4, Nsk2, Nsk3
MMRRC Submission 044489-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6335 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 58285960-58374303 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58366811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 476 (I476M)
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 benign
Transcript: ENSMUST00000081919
AA Change: I466M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080590
Gene: ENSMUSG00000057280
AA Change: I466M

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: I466M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081625
Gene: ENSMUSG00000057280
AA Change: I466M

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: I491M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095665
Gene: ENSMUSG00000057280
AA Change: I491M

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 benign
Transcript: ENSMUST00000098059
AA Change: I468M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095667
Gene: ENSMUSG00000057280
AA Change: I468M

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: I458M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099957
Gene: ENSMUSG00000057280
AA Change: I458M

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 probably benign
Transcript: ENSMUST00000177951
AA Change: I468M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136696
Gene: ENSMUSG00000057280
AA Change: I468M

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: I476M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137453
Gene: ENSMUSG00000057280
AA Change: I476M

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (59/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp11a T C 8: 12,909,481 (GRCm39) probably null Het
Best3 G T 10: 116,838,556 (GRCm39) V205F probably benign Het
C1qtnf1 A G 11: 118,338,960 (GRCm39) H210R probably damaging Het
Camkv T C 9: 107,823,894 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,849 (GRCm39) D1200E possibly damaging Het
Cep192 T A 18: 67,967,784 (GRCm39) I756N probably damaging Het
Crocc2 A T 1: 93,130,560 (GRCm39) Q947L probably benign Het
Dcaf1 A G 9: 106,715,845 (GRCm39) T321A possibly damaging Het
Dgkz T C 2: 91,774,724 (GRCm39) M87V probably benign Het
Dmrt2 T A 19: 25,650,935 (GRCm39) S40R possibly damaging Het
Dpep1 T G 8: 123,927,391 (GRCm39) L315R probably damaging Het
Fam221b G T 4: 43,665,942 (GRCm39) T223N possibly damaging Het
Fasn A T 11: 120,706,185 (GRCm39) V1053E probably damaging Het
Galc T C 12: 98,208,973 (GRCm39) D227G probably damaging Het
Grik1 A G 16: 87,744,794 (GRCm39) L486P probably damaging Het
Grik5 A G 7: 24,713,019 (GRCm39) S836P probably benign Het
Grpel2 T C 18: 61,852,792 (GRCm39) K70R possibly damaging Het
Ipo7 A G 7: 109,617,675 (GRCm39) D15G possibly damaging Het
Iqgap1 A G 7: 80,377,772 (GRCm39) Y1284H probably damaging Het
Lmo7 T C 14: 102,138,072 (GRCm39) S692P probably damaging Het
Mecom A G 3: 30,034,905 (GRCm39) L447P probably damaging Het
Mtor A G 4: 148,550,384 (GRCm39) D680G probably damaging Het
Muc16 T A 9: 18,572,004 (GRCm39) I172F unknown Het
Myef2 T C 2: 124,951,632 (GRCm39) T268A probably damaging Het
Naip1 A G 13: 100,563,060 (GRCm39) S702P probably damaging Het
Napa G T 7: 15,849,562 (GRCm39) S258I probably benign Het
Nfasc T A 1: 132,504,132 (GRCm39) I1039F probably damaging Het
Nlrc5 A G 8: 95,228,902 (GRCm39) S1238G probably benign Het
Or10q12 T C 19: 13,746,144 (GRCm39) V146A probably benign Het
Or1j12 A G 2: 36,342,734 (GRCm39) I46V probably benign Het
Or5w8 T A 2: 87,687,811 (GRCm39) C97* probably null Het
Pacs1 G T 19: 5,210,005 (GRCm39) N215K probably damaging Het
Parp10 A G 15: 76,126,388 (GRCm39) S267P probably benign Het
Pbrm1 G T 14: 30,806,052 (GRCm39) C995F probably damaging Het
Pcdh7 A T 5: 58,099,607 (GRCm39) probably null Het
Ppef2 T C 5: 92,383,613 (GRCm39) Y499C probably damaging Het
Pramel16 G T 4: 143,675,602 (GRCm39) T408K probably benign Het
Prex2 A C 1: 11,180,544 (GRCm39) I370L probably benign Het
Ptprd A G 4: 75,872,420 (GRCm39) Y1350H probably damaging Het
Rasgrp1 T C 2: 117,124,351 (GRCm39) K284E probably damaging Het
Rexo1 A T 10: 80,379,915 (GRCm39) Y23N probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sash3 C T X: 47,248,398 (GRCm39) L307F probably damaging Homo
Scn9a T A 2: 66,398,608 (GRCm39) M1L possibly damaging Het
Serpinb6e C A 13: 34,021,805 (GRCm39) L174F probably benign Het
Siae C T 9: 37,544,277 (GRCm39) T275I probably benign Het
Sptbn5 C A 2: 119,884,900 (GRCm39) probably benign Het
Ss18l2 C T 9: 121,541,672 (GRCm39) T55I probably damaging Het
Taf1c A G 8: 120,328,518 (GRCm39) C163R probably damaging Het
Tanc2 C T 11: 105,748,382 (GRCm39) R505W probably damaging Het
Tango6 C A 8: 107,419,308 (GRCm39) P285Q possibly damaging Het
Tdrd9 G T 12: 112,008,186 (GRCm39) probably null Het
Tead3 A T 17: 28,552,299 (GRCm39) L307H probably damaging Het
Ticrr A C 7: 79,344,031 (GRCm39) probably null Het
Trpc4 T C 3: 54,224,995 (GRCm39) probably null Het
Upb1 A T 10: 75,264,135 (GRCm39) T194S probably benign Het
Vav3 A G 3: 109,470,512 (GRCm39) N566S probably benign Het
Vmn1r196 T A 13: 22,477,887 (GRCm39) S175R probably benign Het
Zscan29 T C 2: 120,991,917 (GRCm39) N589D possibly 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
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
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'- CCCTTCCTTGCAAATGAACC -3'
(R):5'- TCCAAAAGTGAGTACGCGGATG -3'

Sequencing Primer
(F):5'- CTTCCTTGCAAATGAACCTTATTGG -3'
(R):5'- ATGGGGCTGCAATCCTCAC -3'
Posted On 2018-04-27