Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02064:Musk'

283309

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Musk

Ensembl Gene

ENSMUSG00000057280

Gene Name

muscle, skeletal, receptor tyrosine kinase

Synonyms

MDK4, Nsk1, Nsk2, Nsk3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02064

Quality Score

Status

Chromosome

Chromosomal Location

58285960-58374303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58286128 bp (GRCm38)

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

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
AA Change: N6S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000081625
Gene: ENSMUSG00000057280
AA Change: N6S

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
AA Change: N6S

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000095665
Gene: ENSMUSG00000057280
AA Change: N6S

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

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

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
AA Change: N6S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099957
Gene: ENSMUSG00000057280
AA Change: N6S

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

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

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
AA Change: N6S

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137453
Gene: ENSMUSG00000057280
AA Change: N6S

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732456N10Rik	T	C	15: 101,562,653	H58R	possibly damaging	Het
Acap2	A	C	16: 31,127,328	W284G	probably damaging	Het
Acsf3	T	C	8: 122,780,247	L93P	possibly damaging	Het
Agbl2	G	T	2: 90,784,024		probably benign	Het
Arap3	C	T	18: 37,991,701	G242D	probably damaging	Het
Asxl3	G	A	18: 22,524,344	V1804I	possibly damaging	Het
BC025446	A	G	15: 75,221,656		probably benign	Het
Bnc1	C	A	7: 81,973,503	V659L	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Car9	A	G	4: 43,507,363	E103G	probably benign	Het
Chrm4	A	G	2: 91,927,831	T195A	probably damaging	Het
Cldn10	T	C	14: 118,855,012	I8T	probably damaging	Het
Col12a1	G	A	9: 79,692,372	S833F	probably benign	Het
Cryba2	T	A	1: 74,890,561	D139V	possibly damaging	Het
Emp1	T	A	6: 135,377,212	M1K	probably null	Het
Exosc4	C	A	15: 76,329,636	A220E	probably damaging	Het
Fam189b	C	T	3: 89,188,596	R545*	probably null	Het
Fryl	A	G	5: 73,124,769		probably benign	Het
Gm8298	T	C	3: 59,877,042	L312P	probably damaging	Het
Grid2	C	T	6: 64,063,935	T287I	probably benign	Het
Grifin	C	T	5: 140,564,739	A7T	probably damaging	Het
Gzmg	T	C	14: 56,157,341	K157E	probably benign	Het
Kcnq2	A	T	2: 181,109,026	I340N	probably damaging	Het
Klrb1	T	A	6: 128,710,637	H98L	probably benign	Het
Krtap5-2	C	A	7: 142,175,731	G71C	unknown	Het
Krtap7-1	A	T	16: 89,508,123	M47K	probably benign	Het
Lmntd1	T	A	6: 145,427,276		probably null	Het
Olfr169	A	G	16: 19,566,548	C112R	probably damaging	Het
Olfr33	A	G	7: 102,713,601	F271L	probably damaging	Het
Olfr482	T	G	7: 108,095,247	T108P	probably benign	Het
Olfr682-ps1	A	T	7: 105,127,034	F89Y	possibly damaging	Het
Olfr893	T	A	9: 38,209,578	I122N	probably damaging	Het
Pcdh19	A	G	X: 133,685,970	M432T	probably benign	Het
Prdm1	A	G	10: 44,441,342	F495S	probably damaging	Het
Prkar2a	T	C	9: 108,733,204	Y211H	possibly damaging	Het
Ralgapa1	C	A	12: 55,708,077	G1143V	probably damaging	Het
Rbbp7	A	G	X: 162,769,787		probably null	Het
Scel	C	A	14: 103,533,326	H65Q	probably damaging	Het
Sec24d	T	C	3: 123,343,814		probably benign	Het
Sfswap	C	A	5: 129,560,796	T839N	probably benign	Het
Slc15a1	T	C	14: 121,462,499	I636V	possibly damaging	Het
Slc15a1	G	T	14: 121,462,474	P644H	probably benign	Het
Slc6a21	T	A	7: 45,286,459	I38N	possibly damaging	Het
Sucla2	C	T	14: 73,579,473	Q218*	probably null	Het
Tbc1d14	A	T	5: 36,507,675	L237*	probably null	Het
Trpm7	C	T	2: 126,797,943	E1578K	probably damaging	Het
Ttc17	G	A	2: 94,330,667	T896I	probably damaging	Het
Virma	A	G	4: 11,513,163	D339G	possibly damaging	Het
Vmn2r54	T	A	7: 12,615,606	Y683F	probably benign	Het
Xrra1	T	A	7: 99,914,204	L466Q	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
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
R8671:Musk	UTSW	4	58286051	start gained	probably benign
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

Posted On

2015-04-16