Mutagenetix > Incidental Mutation

Incidental Mutation 'R7238:Musk'

562959

Institutional Source

Beutler Lab

Gene Symbol

Musk

Ensembl Gene

ENSMUSG00000057280

Gene Name

muscle, skeletal, receptor tyrosine kinase

Synonyms

Nsk1, MDK4, Nsk2, Nsk3

MMRRC Submission

045345-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7238 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58285960-58374303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58344312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 305 (G305D)

Ref Sequence

ENSEMBL: ENSMUSP00000080590 (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: G305D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000080590
Gene: ENSMUSG00000057280
AA Change: G305D

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 null
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 null
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 null
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 null
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 null
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 null
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

97% (104/107)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,775,712 (GRCm39)	T1634S	probably damaging	Het
Adgrl1	T	A	8: 84,665,693 (GRCm39)	M1460K	probably damaging	Het
Adig	T	A	2: 158,347,773 (GRCm39)	L29Q	unknown	Het
Adnp	T	G	2: 168,025,887 (GRCm39)	K469N	probably damaging	Het
Akap3	A	G	6: 126,842,200 (GRCm39)	D273G	probably benign	Het
Albfm1	A	T	5: 90,727,519 (GRCm39)	Y379F	probably damaging	Het
Ankrd34b	T	C	13: 92,575,139 (GRCm39)	Y124H	possibly damaging	Het
Ap2b1	T	G	11: 83,223,948 (GRCm39)	F221C	possibly damaging	Het
Atp2c2	A	G	8: 120,469,160 (GRCm39)	I358V	possibly damaging	Het
BC051665	G	A	13: 60,930,536 (GRCm39)	T272I	probably benign	Het
Cdan1	G	T	2: 120,560,783 (GRCm39)	A262E	probably benign	Het
Ces1d	C	T	8: 93,904,763 (GRCm39)	V326I	probably benign	Het
Chd3	T	C	11: 69,254,873 (GRCm39)	R156G	probably benign	Het
Clip1	C	T	5: 123,751,328 (GRCm39)	E818K		Het
Col6a4	C	T	9: 105,877,519 (GRCm39)	V2153M	probably damaging	Het
Crlf3	T	C	11: 79,947,351 (GRCm39)	N296D	possibly damaging	Het
Cstdc6	C	T	16: 36,142,193 (GRCm39)	G61D	probably benign	Het
D130052B06Rik	A	G	11: 33,573,594 (GRCm39)	I109V	probably benign	Het
Dcaf5	G	T	12: 80,385,483 (GRCm39)	T881K	probably benign	Het
Dennd4a	C	A	9: 64,769,238 (GRCm39)	T408K	probably damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dnah2	A	G	11: 69,349,972 (GRCm39)		probably null	Het
Eif1ad8	A	T	12: 87,564,006 (GRCm39)	K114*	probably null	Het
Eif2ak2	C	T	17: 79,173,760 (GRCm39)	V273I	probably benign	Het
Elac1	C	T	18: 73,872,359 (GRCm39)	G212D	probably damaging	Het
Ercc6l2	A	G	13: 64,013,798 (GRCm39)	D623G	probably damaging	Het
Exo1	T	C	1: 175,716,413 (GRCm39)	F177L	probably damaging	Het
Fat4	A	G	3: 38,944,562 (GRCm39)	T1152A	probably benign	Het
Fbxl12	G	T	9: 20,529,709 (GRCm39)		probably null	Het
Fbxo43	T	C	15: 36,151,971 (GRCm39)	Y582C	probably damaging	Het
Fsip2	T	A	2: 82,812,484 (GRCm39)	N2934K	possibly damaging	Het
Gna12	A	G	5: 140,815,847 (GRCm39)	S69P	probably damaging	Het
Gpatch8	C	A	11: 102,369,354 (GRCm39)	G1395C	probably damaging	Het
Gpr137c	A	G	14: 45,516,148 (GRCm39)	Y294C	probably damaging	Het
Greb1	A	G	12: 16,724,673 (GRCm39)	S1834P	probably damaging	Het
Grin2b	T	C	6: 135,757,249 (GRCm39)	D404G	probably damaging	Het
Hectd2	A	T	19: 36,574,478 (GRCm39)	N236I	probably damaging	Het
Hhip	C	T	8: 80,713,641 (GRCm39)	V562I	probably benign	Het
Hipk2	G	T	6: 38,692,992 (GRCm39)	T867N	probably benign	Het
Hmgcl	T	C	4: 135,689,424 (GRCm39)	V294A	possibly damaging	Het
Hnrnpl	T	A	7: 28,513,400 (GRCm39)	F158I		Het
Hspa5	T	C	2: 34,662,383 (GRCm39)	V17A	unknown	Het
Hspg2	T	C	4: 137,235,704 (GRCm39)	V168A	probably damaging	Het
Idh1	A	G	1: 65,205,284 (GRCm39)	F227S	probably damaging	Het
Iigp1c	A	G	18: 60,379,355 (GRCm39)	S297G	possibly damaging	Het
Immp2l	T	C	12: 41,160,915 (GRCm39)	V71A	possibly damaging	Het
Iqce	G	A	5: 140,675,713 (GRCm39)	R193*	probably null	Het
Kcnq5	T	C	1: 21,472,526 (GRCm39)	D907G	probably benign	Het
Krt17	T	A	11: 100,148,613 (GRCm39)	T306S	probably benign	Het
Lhx3	T	C	2: 26,093,009 (GRCm39)	D149G	probably damaging	Het
Lrrc73	G	A	17: 46,565,488 (GRCm39)	R73H	probably damaging	Het
Mgat5b	T	C	11: 116,875,809 (GRCm39)	S678P	probably benign	Het
Mink1	T	C	11: 70,502,305 (GRCm39)		probably null	Het
Mroh5	T	G	15: 73,663,278 (GRCm39)		probably null	Het
Muc5ac	T	A	7: 141,363,254 (GRCm39)	H2188Q	unknown	Het
Muc5ac	G	C	7: 141,363,424 (GRCm39)		probably benign	Het
Mx1	A	G	16: 97,249,496 (GRCm39)	I347T	unknown	Het
Mybbp1a	G	T	11: 72,334,338 (GRCm39)	V198F	probably damaging	Het
Mycbp2	A	G	14: 103,393,733 (GRCm39)	S2943P	probably damaging	Het
Myo18a	G	A	11: 77,733,059 (GRCm39)	R1363K	probably damaging	Het
Nav3	T	A	10: 109,689,185 (GRCm39)	D364V	possibly damaging	Het
Or13g1	T	C	7: 85,955,799 (GRCm39)	H174R	probably damaging	Het
Or14j6	T	C	17: 38,215,328 (GRCm39)	L297S	probably benign	Het
Or1e26	A	T	11: 73,480,561 (GRCm39)	M1K	probably null	Het
Or1j13	T	A	2: 36,369,726 (GRCm39)	N139Y	possibly damaging	Het
Or5k15	T	A	16: 58,710,252 (GRCm39)	E110D	probably damaging	Het
Pecr	T	C	1: 72,298,592 (GRCm39)	D276G	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp1cb	A	T	5: 32,648,376 (GRCm39)	T320S	probably benign	Het
Ppp1r9a	G	T	6: 5,159,716 (GRCm39)	K1084N	probably damaging	Het
Prdm2	A	G	4: 142,862,391 (GRCm39)	S300P	probably benign	Het
Prkg1	C	T	19: 30,602,090 (GRCm39)	V389I	probably damaging	Het
Psg25	C	T	7: 18,266,127 (GRCm39)		probably benign	Het
Ptpn6	A	G	6: 124,698,821 (GRCm39)	S498P	possibly damaging	Het
Pus3	A	G	9: 35,477,965 (GRCm39)	H399R	probably benign	Het
Pus7	T	C	5: 23,983,450 (GRCm39)	T6A	probably benign	Het
Rnf169	A	G	7: 99,574,954 (GRCm39)	V547A	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,128 (GRCm39)		probably benign	Het
Ryr1	C	T	7: 28,794,807 (GRCm39)	D1194N	probably benign	Het
Scn5a	T	C	9: 119,320,610 (GRCm39)	M1490V	possibly damaging	Het
Sec23b	A	G	2: 144,432,258 (GRCm39)	D756G	possibly damaging	Het
Selenoo	T	A	15: 88,973,427 (GRCm39)	M39K	probably benign	Het
Septin8	T	G	11: 53,427,519 (GRCm39)	V246G	possibly damaging	Het
Serpina3k	T	A	12: 104,309,367 (GRCm39)	N270K	probably damaging	Het
Setd5	G	A	6: 113,098,091 (GRCm39)	R710H	probably damaging	Het
Sirt4	A	T	5: 115,621,049 (GRCm39)	I41N	possibly damaging	Het
Slc26a9	T	A	1: 131,686,556 (GRCm39)	Y425*	probably null	Het
Slc4a9	A	G	18: 36,662,773 (GRCm39)	E176G	probably benign	Het
Speer1m	T	C	5: 11,970,712 (GRCm39)	I127T		Het
Spidr	A	T	16: 15,784,680 (GRCm39)	W463R	probably benign	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tmcc1	G	A	6: 116,111,198 (GRCm39)	Q28*	probably null	Het
Tmem52b	A	G	6: 129,493,651 (GRCm39)	E88G	probably damaging	Het
Trpc7	A	T	13: 56,974,710 (GRCm39)	I402K	probably benign	Het
Tshz3	T	C	7: 36,469,522 (GRCm39)	Y504H	probably damaging	Het
Ttn	T	C	2: 76,542,549 (GRCm39)	E33479G	possibly damaging	Het
Ttn	G	A	2: 76,711,672 (GRCm39)	R8290C	unknown	Het
Urb1	T	C	16: 90,549,003 (GRCm39)	D2235G	possibly damaging	Het
Usp10	T	C	8: 120,668,283 (GRCm39)	F195L	probably benign	Het
Vmn1r31	A	T	6: 58,449,858 (GRCm39)	F2L		Het
Vmn2r109	C	T	17: 20,761,336 (GRCm39)	V674M	probably damaging	Het
Vmn2r12	G	A	5: 109,245,655 (GRCm39)	P26S	possibly damaging	Het
Vmn2r61	T	A	7: 41,916,629 (GRCm39)	M414K	possibly damaging	Het
Yipf3	T	C	17: 46,562,585 (GRCm39)	V330A	probably benign	Het
Zic4	A	T	9: 91,261,450 (GRCm39)	H235L	probably benign	Het
Zxdc	T	A	6: 90,346,642 (GRCm39)	W16R	unknown	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
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
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'- TATTTTGCCTACACCCACCAGG -3'
(R):5'- GGTTCTGTAAATTGGTATCCATCAC -3'

Sequencing Primer
(F):5'- GTTTCTTCAGGTTCCATTCAAGAGAG -3'
(R):5'- GGTATCCATCACTTGAACAAGAATG -3'

Posted On

2019-06-26