Mutagenetix > Incidental Mutation

Incidental Mutation 'R8671:Musk'

661145

Institutional Source

Beutler Lab

Gene Symbol

Musk

Ensembl Gene

ENSMUSG00000057280

Gene Name

muscle, skeletal, receptor tyrosine kinase

Synonyms

MDK4, Nsk1, Nsk2, Nsk3

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8671 (G1)

Quality Score

197.009

Status

Not validated

Chromosome

Chromosomal Location

58285960-58374303 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

T to G at 58286051 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000080590
Gene: ENSMUSG00000057280

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 benign
Transcript: ENSMUST00000084578

SMART Domains

Protein: ENSMUSP00000081625
Gene: ENSMUSG00000057280

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 benign
Transcript: ENSMUST00000098057

SMART Domains

Protein: ENSMUSP00000095665
Gene: ENSMUSG00000057280

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 benign
Transcript: ENSMUST00000098059

SMART Domains

Protein: ENSMUSP00000095667
Gene: ENSMUSG00000057280

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 benign
Transcript: ENSMUST00000102893

SMART Domains

Protein: ENSMUSP00000099957
Gene: ENSMUSG00000057280

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 benign
Transcript: ENSMUST00000177951

SMART Domains

Protein: ENSMUSP00000136696
Gene: ENSMUSG00000057280

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 benign
Transcript: ENSMUST00000179951

SMART Domains

Protein: ENSMUSP00000137453
Gene: ENSMUSG00000057280

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	T	4: 73,942,929	E145K	probably damaging	Het
4930430A15Rik	T	C	2: 111,229,532		probably benign	Het
4930467E23Rik	T	A	8: 19,734,759	L203*	probably null	Het
Ambp	A	T	4: 63,150,419	Y120*	probably null	Het
Ankrd36	C	T	11: 5,629,312	A192V	probably benign	Het
Apol7e	A	T	15: 77,717,603	M134L	probably benign	Het
Atg9b	A	T	5: 24,386,109	N774K	probably benign	Het
BC027072	G	T	17: 71,751,377	A435E	probably benign	Het
Catsperb	T	A	12: 101,594,337	N862K	possibly damaging	Het
Ccdc7a	T	A	8: 128,920,467	D648V	probably damaging	Het
Cfap54	G	T	10: 92,955,072	P1855T	unknown	Het
Clcnkb	T	A	4: 141,412,230	T154S	probably damaging	Het
Cux1	C	T	5: 136,250,600	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,422,186	D413G	possibly damaging	Het
Flnc	T	C	6: 29,443,502		probably null	Het
Grm5	T	C	7: 88,116,290		probably null	Het
Hectd3	T	G	4: 116,996,581	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,189,183	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ikbkap	A	G	4: 56,771,453	L948P	probably damaging	Het
Larp4	C	A	15: 100,010,458	Q607K	probably benign	Het
March8	A	G	6: 116,401,854	R250G	probably benign	Het
Med13	A	C	11: 86,271,097	N2135K	probably damaging	Het
Msh5	T	A	17: 35,045,933	R89*	probably null	Het
Myo18b	T	C	5: 112,874,743	Q261R	unknown	Het
Npr1	A	T	3: 90,456,157		probably benign	Het
Nynrin	T	A	14: 55,870,442	V1002E	possibly damaging	Het
Olfr1138	A	T	2: 87,737,646	L226Q	probably damaging	Het
Olfr1195	A	T	2: 88,683,105	F209Y	probably benign	Het
Olfr1315-ps1	T	A	2: 112,110,988	K88M	probably damaging	Het
Olfr167	T	C	16: 19,515,054	Y194C	possibly damaging	Het
Pcdh9	T	C	14: 93,888,650	Y28C	probably damaging	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Prkd1	T	A	12: 50,388,408	N512I	probably benign	Het
Pwwp2b	C	T	7: 139,256,410	P589L	probably damaging	Het
Rasgrp4	G	A	7: 29,143,027	G242D	probably damaging	Het
Rcbtb1	T	G	14: 59,230,524	V480G	probably damaging	Het
Rptn	A	G	3: 93,398,194	S945G	probably benign	Het
Slc22a2	C	T	17: 12,605,976	Q242*	probably null	Het
Slfn3	T	A	11: 83,212,999	V232E	probably benign	Het
Stab1	T	A	14: 31,157,408	K705M	probably damaging	Het
Syn2	C	A	6: 115,278,167	S480*	probably null	Het
Thsd4	A	T	9: 60,394,445	L189H	probably damaging	Het
Tinagl1	T	C	4: 130,167,804	T250A	probably benign	Het
Tnc	A	T	4: 64,017,446	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,776,078	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,971,765		probably benign	Het
Xcl1	T	C	1: 164,931,850	M94V	probably benign	Het
Zfp369	T	C	13: 65,296,281	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,873,768	I279S	possibly damaging	Het
Zfp971	A	C	2: 178,033,937	Q443P	probably damaging	Het

Other mutations in Musk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01406:Musk	APN	4	58367539	missense	probably damaging	1.00
IGL01727:Musk	APN	4	58303887	missense	probably benign	0.37
IGL01981:Musk	APN	4	58296629	missense	probably damaging	1.00
IGL02064:Musk	APN	4	58286128	missense	possibly damaging	0.89
IGL02326:Musk	APN	4	58354113	missense	probably benign	0.02
IGL02475:Musk	APN	4	58353936	critical splice acceptor site	probably benign
IGL02585:Musk	APN	4	58347849	missense	probably benign
IGL02719:Musk	APN	4	58356496	missense	probably benign
IGL02797:Musk	APN	4	58366921	missense	probably benign	0.00
IGL02869:Musk	APN	4	58354078	missense	probably benign	0.05
IGL02940:Musk	APN	4	58373364	missense	probably damaging	1.00
IGL03167:Musk	APN	4	58366821	missense	possibly damaging	0.81
IGL03230:Musk	APN	4	58296710	missense	probably damaging	1.00
BB002:Musk	UTSW	4	58367513	missense	probably damaging	1.00
BB012:Musk	UTSW	4	58367513	missense	probably damaging	1.00
R0384:Musk	UTSW	4	58373711	makesense	probably null
R1014:Musk	UTSW	4	58354156	missense	possibly damaging	0.88
R1462:Musk	UTSW	4	58286204	splice site	probably benign
R1493:Musk	UTSW	4	58354003	missense	probably benign	0.19
R1739:Musk	UTSW	4	58293563	missense	probably damaging	1.00
R1883:Musk	UTSW	4	58373189	missense	probably benign	0.18
R2230:Musk	UTSW	4	58333672	missense	possibly damaging	0.79
R2914:Musk	UTSW	4	58366938	missense	probably damaging	0.99
R3508:Musk	UTSW	4	58327347	missense	probably damaging	0.98
R4225:Musk	UTSW	4	58373240	missense	probably damaging	0.99
R4601:Musk	UTSW	4	58301625	missense	probably damaging	0.99
R4771:Musk	UTSW	4	58301706	missense	probably benign	0.16
R4793:Musk	UTSW	4	58373400	missense	probably damaging	1.00
R4845:Musk	UTSW	4	58296679	missense	probably damaging	1.00
R4919:Musk	UTSW	4	58366899	missense	probably damaging	1.00
R4954:Musk	UTSW	4	58344222	missense	probably damaging	0.96
R5596:Musk	UTSW	4	58373036	missense	probably damaging	1.00
R5715:Musk	UTSW	4	58333663	missense	probably damaging	1.00
R5894:Musk	UTSW	4	58373583	missense	probably damaging	1.00
R5934:Musk	UTSW	4	58373613	missense	probably damaging	1.00
R6230:Musk	UTSW	4	58367576	missense	probably damaging	1.00
R6335:Musk	UTSW	4	58366811	missense	probably benign
R6358:Musk	UTSW	4	58373171	missense	possibly damaging	0.72
R6395:Musk	UTSW	4	58286169	missense	probably benign
R6652:Musk	UTSW	4	58368977	missense	probably damaging	1.00
R6764:Musk	UTSW	4	58354027	missense	probably damaging	1.00
R7233:Musk	UTSW	4	58373307	missense	possibly damaging	0.83
R7238:Musk	UTSW	4	58344312	missense	probably benign	0.01
R7271:Musk	UTSW	4	58373409	missense	probably damaging	1.00
R7511:Musk	UTSW	4	58333672	missense	probably benign	0.10
R7925:Musk	UTSW	4	58367513	missense	probably damaging	1.00
R8085:Musk	UTSW	4	58373110	missense	probably benign	0.00
R8243:Musk	UTSW	4	58293600	missense	probably benign
R8249:Musk	UTSW	4	58368926	missense	probably damaging	1.00
R8501:Musk	UTSW	4	58367502	missense	probably damaging	1.00
R8672:Musk	UTSW	4	58286051	start gained	probably benign
R8839:Musk	UTSW	4	58286151	missense	probably benign
R8927:Musk	UTSW	4	58301638	missense	probably damaging	0.99
R8928:Musk	UTSW	4	58301638	missense	probably damaging	0.99
R8988:Musk	UTSW	4	58354032	missense	probably benign	0.04
R9167:Musk	UTSW	4	58296687	missense	probably benign	0.30
X0020:Musk	UTSW	4	58368996	missense	probably damaging	1.00
X0066:Musk	UTSW	4	58327356	critical splice donor site	probably null

Predicted Primers

Posted On

2021-03-08