Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02869:Musk'

362444

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 #

IGL02869

Quality Score

Status

Chromosome

Chromosomal Location

58285960-58374303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58354078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 362 (I362T)

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: I352T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000080590
Gene: ENSMUSG00000057280
AA Change: I352T

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: I352T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000081625
Gene: ENSMUSG00000057280
AA Change: I352T

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: I377T

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000095665
Gene: ENSMUSG00000057280
AA Change: I377T

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
AA Change: I362T

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000095667
Gene: ENSMUSG00000057280
AA Change: I362T

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: I352T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000099957
Gene: ENSMUSG00000057280
AA Change: I352T

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
AA Change: I362T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000136696
Gene: ENSMUSG00000057280
AA Change: I362T

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: I362T

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000137453
Gene: ENSMUSG00000057280
AA Change: I362T

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,685,323 (GRCm39)	S1142T	possibly damaging	Het
Aadacl4fm5	T	C	4: 144,512,938 (GRCm39)	I54V	probably benign	Het
Actr3b	T	G	5: 26,037,433 (GRCm39)	V215G	probably damaging	Het
Adam9	C	T	8: 25,460,634 (GRCm39)	V617M	probably damaging	Het
Adgrl2	G	T	3: 148,596,241 (GRCm39)	P32T	probably damaging	Het
Afg2a	G	T	3: 37,518,694 (GRCm39)	G743W	probably damaging	Het
Ago3	A	T	4: 126,261,580 (GRCm39)		probably benign	Het
Allc	A	C	12: 28,623,206 (GRCm39)	I20M	probably benign	Het
Asic3	G	A	5: 24,621,972 (GRCm39)	W361*	probably null	Het
Atf7ip	A	G	6: 136,583,577 (GRCm39)	K1203E	probably damaging	Het
Babam2	C	A	5: 32,162,116 (GRCm39)	H272Q	possibly damaging	Het
Baz2b	G	A	2: 59,807,872 (GRCm39)	T129I	probably benign	Het
C130073F10Rik	A	T	4: 101,747,590 (GRCm39)	Y146*	probably null	Het
Cd247	A	G	1: 165,684,986 (GRCm39)	E74G	probably damaging	Het
Cdh17	A	T	4: 11,814,908 (GRCm39)	Q778L	probably benign	Het
Ceacam1	T	C	7: 25,175,966 (GRCm39)	D76G	probably benign	Het
Cela3a	T	C	4: 137,131,145 (GRCm39)	K198E	probably benign	Het
Cemip2	T	A	19: 21,789,241 (GRCm39)	D558E	probably damaging	Het
Ces2a	T	A	8: 105,465,691 (GRCm39)	D281E	probably damaging	Het
Cetn2	A	T	X: 71,958,527 (GRCm39)	D116E	probably damaging	Het
Cracd	A	G	5: 77,006,890 (GRCm39)	K1084E	unknown	Het
Ctu2	G	T	8: 123,205,530 (GRCm39)		probably null	Het
Cybb	T	C	X: 9,308,828 (GRCm39)	N469D	probably benign	Het
Cygb	C	T	11: 116,540,749 (GRCm39)	R79Q	probably damaging	Het
Cyp2d10	C	T	15: 82,288,069 (GRCm39)	V186M	possibly damaging	Het
Defb29	T	A	2: 152,380,942 (GRCm39)		probably null	Het
Depdc7	T	G	2: 104,560,694 (GRCm39)	Q100P	probably damaging	Het
Dhx30	A	C	9: 109,926,251 (GRCm39)	I91R	probably damaging	Het
Dnm1l	T	A	16: 16,159,288 (GRCm39)	K105*	probably null	Het
Eddm13	T	C	7: 6,272,898 (GRCm39)		probably benign	Het
Efhc1	T	C	1: 21,037,567 (GRCm39)	I248T	probably damaging	Het
Elapor1	A	G	3: 108,380,182 (GRCm39)	I309T	probably benign	Het
Entpd2	A	G	2: 25,288,120 (GRCm39)	T115A	probably damaging	Het
Epb42	G	T	2: 120,856,227 (GRCm39)	A439E	probably benign	Het
Esm1	T	G	13: 113,346,618 (GRCm39)	L81R	probably damaging	Het
F8	T	C	X: 74,330,987 (GRCm39)	S968G	probably benign	Het
Fam234b	T	G	6: 135,202,201 (GRCm39)	Y308D	probably damaging	Het
Fbxo46	T	G	7: 18,871,139 (GRCm39)	V586G	probably damaging	Het
Foxp1	C	A	6: 98,907,044 (GRCm39)		probably benign	Het
Gm10754	A	T	10: 97,518,136 (GRCm39)		probably benign	Het
Gm12695	A	C	4: 96,650,370 (GRCm39)		probably benign	Het
Gm5468	T	C	15: 25,414,726 (GRCm39)		probably benign	Het
Grhl1	T	C	12: 24,631,490 (GRCm39)	S66P	probably damaging	Het
Gstt3	A	T	10: 75,612,576 (GRCm39)		probably null	Het
Gtf2i	A	G	5: 134,308,281 (GRCm39)		probably benign	Het
Gzmk	C	A	13: 113,308,560 (GRCm39)	G175C	probably damaging	Het
Helz2	T	C	2: 180,872,939 (GRCm39)		probably benign	Het
Ift20	T	C	11: 78,430,780 (GRCm39)		probably benign	Het
Intu	A	G	3: 40,642,216 (GRCm39)	D491G	probably damaging	Het
Itch	G	T	2: 155,015,853 (GRCm39)		probably null	Het
Itgb5	A	G	16: 33,665,362 (GRCm39)	N26S	possibly damaging	Het
Lama2	A	T	10: 26,891,534 (GRCm39)	S2526R	probably damaging	Het
Lat2	A	G	5: 134,637,027 (GRCm39)	I40T	probably damaging	Het
Lipa	T	A	19: 34,471,397 (GRCm39)	M393L	probably benign	Het
Lipa	G	T	19: 34,471,371 (GRCm39)		probably benign	Het
Lpcat1	T	A	13: 73,632,417 (GRCm39)	L10H	probably damaging	Het
Lpcat3	T	C	6: 124,679,970 (GRCm39)	Y348H	possibly damaging	Het
Lrp1b	A	T	2: 40,591,842 (GRCm39)	N50K	unknown	Het
Lrrk2	T	A	15: 91,634,480 (GRCm39)	Y1415N	probably damaging	Het
Lsamp	A	T	16: 41,965,078 (GRCm39)	T312S	probably benign	Het
Man2a2	T	C	7: 80,013,689 (GRCm39)	E454G	probably benign	Het
Mcm3	T	C	1: 20,879,063 (GRCm39)	K570R	probably damaging	Het
Mctp2	C	A	7: 71,878,219 (GRCm39)		probably null	Het
Msantd2	T	G	9: 37,434,796 (GRCm39)	C345W	probably damaging	Het
Myh15	A	T	16: 48,965,767 (GRCm39)	N1224I	probably benign	Het
Myo18a	A	G	11: 77,755,612 (GRCm39)	Y1983C	probably damaging	Het
Myo18a	C	T	11: 77,720,699 (GRCm39)		probably benign	Het
Myrfl	G	T	10: 116,664,909 (GRCm39)	Q374K	probably damaging	Het
Ndrg1	T	A	15: 66,818,346 (GRCm39)	Q87H	probably benign	Het
Nol9	G	A	4: 152,131,030 (GRCm39)	C351Y	probably damaging	Het
Nr5a1	A	G	2: 38,598,141 (GRCm39)	S219P	probably benign	Het
Or8b43	T	C	9: 38,360,489 (GRCm39)	F107S	possibly damaging	Het
Or8g28	A	T	9: 39,169,520 (GRCm39)	Y149*	probably null	Het
Pcdhb19	A	G	18: 37,631,690 (GRCm39)	D495G	probably damaging	Het
Pfkm	A	G	15: 98,026,123 (GRCm39)	M573V	probably damaging	Het
Plec	A	T	15: 76,065,516 (GRCm39)	L1586Q	probably damaging	Het
Prelp	C	A	1: 133,843,005 (GRCm39)	E47*	probably null	Het
Rbm33	T	A	5: 28,615,753 (GRCm39)	I32N	probably damaging	Het
Rgs12	A	T	5: 35,183,227 (GRCm39)	D310V	probably damaging	Het
Ripor2	A	C	13: 24,880,512 (GRCm39)	H404P	possibly damaging	Het
Sh3d21	T	C	4: 126,056,034 (GRCm39)	E124G	probably benign	Het
Shroom2	C	T	X: 151,442,549 (GRCm39)	S872N	probably benign	Het
Slc44a5	A	G	3: 153,956,651 (GRCm39)	Y301C	probably damaging	Het
Smap1	A	T	1: 23,930,995 (GRCm39)	H66Q	possibly damaging	Het
Smyd1	G	T	6: 71,198,007 (GRCm39)		probably benign	Het
Sptbn4	T	A	7: 27,093,573 (GRCm39)		probably benign	Het
Srsf3-ps	T	A	11: 98,516,146 (GRCm39)	R76*	probably null	Het
Stag3	A	G	5: 138,280,955 (GRCm39)	K49R	probably damaging	Het
Stim1	C	A	7: 101,917,758 (GRCm39)	A46E	unknown	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tbc1d19	A	G	5: 53,992,559 (GRCm39)	T114A	probably benign	Het
Tln2	G	A	9: 67,128,807 (GRCm39)		probably benign	Het
Trmt10a	T	A	3: 137,857,945 (GRCm39)		probably null	Het
Vwde	G	A	6: 13,187,136 (GRCm39)	H784Y	probably damaging	Het
Zfp773	T	C	7: 7,137,232 (GRCm39)	T121A	probably benign	Het

Other mutations in Musk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2015-12-18