Mutagenetix > Incidental Mutation

Incidental Mutation 'R4995:Mypn'

512168

Institutional Source

Beutler Lab

Gene Symbol

Mypn

Ensembl Gene

ENSMUSG00000020067

Gene Name

myopalladin

Synonyms

1110056A04Rik

MMRRC Submission

042589-MU

Accession Numbers

Genbank: NM_182992; MGI: 1916052

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R4995 (G1)

Quality Score

206

Status

Not validated

Chromosome

Chromosomal Location

63115795-63203952 bp(-) (GRCm38)

Type of Mutation

splice site (61 bp from exon)

DNA Base Change (assembly)

T to C at 63119968 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095580] [ENSMUST00000218978]

AlphaFold

Q5DTJ9

Predicted Effect

probably null
Transcript: ENSMUST00000095580

SMART Domains

Protein: ENSMUSP00000093240
Gene: ENSMUSG00000020067

Domain	Start	End	E-Value	Type
low complexity region	46	56	N/A	INTRINSIC
low complexity region	225	245	N/A	INTRINSIC
IGc2	279	346	2.16e-8	SMART
low complexity region	384	405	N/A	INTRINSIC
IGc2	444	519	1.69e-10	SMART
low complexity region	636	648	N/A	INTRINSIC
low complexity region	659	675	N/A	INTRINSIC
low complexity region	721	741	N/A	INTRINSIC
low complexity region	779	794	N/A	INTRINSIC
low complexity region	826	838	N/A	INTRINSIC
low complexity region	922	933	N/A	INTRINSIC
IGc2	953	1022	1.64e-8	SMART
IGc2	1080	1148	3.67e-11	SMART
IG	1173	1259	1.17e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000218978

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

99% (86/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]

Allele List at MGI

All alleles(51) : Gene trapped(51)

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	G	A	2: 19,494,184	Q333*	probably null	Het
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Acvrl1	G	A	15: 101,135,860	R141H	probably benign	Het
Adprm	A	G	11: 67,041,610	F158L	possibly damaging	Het
Aldoart2	C	T	12: 55,566,253	T321M	probably benign	Het
Ap3m2	A	G	8: 22,803,776	V86A	probably benign	Het
Arhgef19	T	A	4: 141,247,515		probably null	Het
Armc4	G	A	18: 7,223,663	T460M	probably damaging	Het
Bcl2l12	T	G	7: 44,994,191		probably null	Het
Bptf	T	C	11: 107,054,565	Q2501R	probably damaging	Het
C230029F24Rik	A	T	1: 49,338,136		noncoding transcript	Het
C7	C	T	15: 5,049,592	G78D	probably damaging	Het
Caly	T	C	7: 140,070,625	T135A	probably benign	Het
Cbl	A	G	9: 44,153,811	M740T	possibly damaging	Het
Cbx4	A	G	11: 119,081,211	V446A	probably benign	Het
Celsr1	C	A	15: 85,937,911	R1735L	probably damaging	Het
Cep250	A	G	2: 155,988,316	D135G	probably damaging	Het
Cgn	T	C	3: 94,779,936	T19A	probably damaging	Het
Chic2	A	T	5: 75,044,204	V32D	probably damaging	Het
Cntln	A	G	4: 85,049,883	K780E	probably benign	Het
Col8a2	A	T	4: 126,310,788	D197V	probably damaging	Het
Crot	A	T	5: 8,974,000	V372E	probably damaging	Het
Cyb561d2	C	T	9: 107,541,548	V26M	probably damaging	Het
Ddx5	G	A	11: 106,785,236	T237I	probably damaging	Het
Dmxl2	G	T	9: 54,501,441		probably benign	Het
Dock8	T	A	19: 25,158,383	S1188R	probably benign	Het
Ehbp1	T	A	11: 22,101,073	H493L	probably damaging	Het
Eif5b	T	A	1: 38,051,711	*1217K	probably null	Het
Eprs	A	G	1: 185,410,139		probably benign	Het
Etfdh	T	C	3: 79,605,788	D376G	probably benign	Het
Fam186a	T	C	15: 99,945,099	Q1088R	probably benign	Het
Fbxw16	G	T	9: 109,441,250	T141N	probably damaging	Het
Fgf11	G	A	11: 69,798,759	H138Y	probably damaging	Het
Gm1673	G	A	5: 33,984,926	R79H	probably damaging	Het
Htra3	T	C	5: 35,671,074	E154G	probably damaging	Het
Hydin	T	A	8: 110,569,642	V3601D	probably damaging	Het
Jup	G	T	11: 100,379,541	S380*	probably null	Het
Klrg1	T	A	6: 122,278,275	D66V	probably benign	Het
Llgl1	C	T	11: 60,709,724	A633V	probably benign	Het
Lmln	T	A	16: 33,074,097	Y203*	probably null	Het
Lrrc58	T	G	16: 37,877,056	C165G	probably benign	Het
Lss	T	C	10: 76,547,537	V557A	probably benign	Het
Mast4	T	C	13: 102,905,754		probably benign	Het
Med13l	C	A	5: 118,730,949	P754Q	possibly damaging	Het
Mga	C	T	2: 119,932,582	R1240*	probably null	Het
Mgat5b	T	A	11: 116,974,199		probably null	Het
Mtor	A	G	4: 148,525,752	D1572G	probably damaging	Het
Muc4	T	A	16: 32,754,214	S1363T	probably benign	Het
Muc4	T	A	16: 32,754,041	S1306T	probably benign	Het
Myo18b	A	G	5: 112,760,392	V2005A	probably damaging	Het
Myo1e	G	A	9: 70,353,272	D571N	probably benign	Het
Ndufb10	T	C	17: 24,722,757		probably null	Het
Nelfb	G	T	2: 25,206,196	D300E	probably benign	Het
Olfr1389	T	A	11: 49,430,655	Y60N	probably damaging	Het
Olfr1507	A	T	14: 52,490,531	C61*	probably null	Het
Olfr625-ps1	T	A	7: 103,683,367	D206E	probably damaging	Het
Olfr668	T	A	7: 104,925,735	T10S	probably benign	Het
Pcdha11	C	T	18: 37,011,027	T57M	probably benign	Het
Pkp1	A	T	1: 135,880,855	I458N	possibly damaging	Het
Prr12	T	A	7: 45,051,229		probably benign	Het
Prrc2c	A	T	1: 162,705,310		probably benign	Het
Psd4	T	C	2: 24,397,247	F397S	probably benign	Het
Pygm	T	C	19: 6,398,139	I737T	probably damaging	Het
Rfx1	T	A	8: 84,080,114		probably null	Het
Rsl1	A	G	13: 67,182,249	T254A	possibly damaging	Het
Sh3rf3	A	G	10: 59,086,824	Q574R	probably benign	Het
Spire1	T	C	18: 67,552,779		probably null	Het
St6galnac4	G	A	2: 32,594,063	G91D	probably damaging	Het
Sytl2	T	C	7: 90,382,257		probably benign	Het
Tbpl2	T	A	2: 24,093,860	K188N	possibly damaging	Het
Tenm3	A	T	8: 48,229,137	M2486K	possibly damaging	Het
Tgoln1	A	C	6: 72,616,140	V119G	possibly damaging	Het
Tpgs1	A	T	10: 79,669,491	N28Y	probably benign	Het
U2surp	A	C	9: 95,462,794		probably benign	Het
Vmn2r103	A	G	17: 19,773,511	H50R	probably benign	Het
Vmn2r19	A	G	6: 123,329,910	N459S	probably benign	Het
Vmn2r72	T	C	7: 85,738,485	S624G	probably damaging	Het
Vps13c	A	G	9: 67,919,321	T1415A	probably benign	Het
Vwa5b1	G	A	4: 138,608,843	P147S	probably damaging	Het

Other mutations in Mypn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00938:Mypn	APN	10	63192423	missense	probably damaging	1.00
IGL01137:Mypn	APN	10	63152854	missense	probably benign	0.12
IGL01383:Mypn	APN	10	63135797	missense	probably damaging	1.00
IGL01560:Mypn	APN	10	63134964	missense	probably benign	0.27
IGL01569:Mypn	APN	10	63127759	missense	probably damaging	1.00
IGL02197:Mypn	APN	10	63123278	missense	possibly damaging	0.69
IGL02829:Mypn	APN	10	63192586	missense	probably benign	0.01
IGL03221:Mypn	APN	10	63131123	missense	probably damaging	1.00
IGL03377:Mypn	APN	10	63192865	missense	probably benign	0.01
2107:Mypn	UTSW	10	63203751	utr 5 prime	probably benign
PIT4576001:Mypn	UTSW	10	63120071	missense	probably damaging	1.00
R0115:Mypn	UTSW	10	63192380	splice site	probably benign
R0377:Mypn	UTSW	10	63127622	unclassified	probably benign
R0480:Mypn	UTSW	10	63193203	missense	probably benign	0.01
R0581:Mypn	UTSW	10	63162244	missense	probably benign	0.06
R0669:Mypn	UTSW	10	63134923	splice site	probably benign
R0822:Mypn	UTSW	10	63169256	missense	probably damaging	1.00
R1209:Mypn	UTSW	10	63118499	missense	probably damaging	1.00
R1401:Mypn	UTSW	10	63152857	missense	probably damaging	0.96
R1513:Mypn	UTSW	10	63169368	missense	probably damaging	0.99
R1750:Mypn	UTSW	10	63136197	missense	probably benign	0.01
R1780:Mypn	UTSW	10	63121964	missense	probably damaging	1.00
R1791:Mypn	UTSW	10	63125693	missense	probably damaging	0.97
R1859:Mypn	UTSW	10	63146190	missense	probably benign
R1903:Mypn	UTSW	10	63123397	missense	probably benign	0.06
R2275:Mypn	UTSW	10	63131069	missense	probably damaging	1.00
R2420:Mypn	UTSW	10	63192869	nonsense	probably null
R3425:Mypn	UTSW	10	63118417	splice site	probably benign
R3767:Mypn	UTSW	10	63125707	missense	possibly damaging	0.88
R3768:Mypn	UTSW	10	63125707	missense	possibly damaging	0.88
R3770:Mypn	UTSW	10	63125707	missense	possibly damaging	0.88
R3777:Mypn	UTSW	10	63147982	missense	possibly damaging	0.92
R3785:Mypn	UTSW	10	63193182	missense	probably benign	0.43
R3888:Mypn	UTSW	10	63192510	missense	probably damaging	1.00
R4289:Mypn	UTSW	10	63131182	missense	probably damaging	1.00
R4301:Mypn	UTSW	10	63118484	missense	probably damaging	1.00
R4366:Mypn	UTSW	10	63192708	missense	probably benign	0.00
R4459:Mypn	UTSW	10	63192432	missense	probably damaging	1.00
R4921:Mypn	UTSW	10	63147936	missense	possibly damaging	0.75
R5064:Mypn	UTSW	10	63123371	missense	possibly damaging	0.68
R5083:Mypn	UTSW	10	63118528	missense	probably damaging	0.98
R5108:Mypn	UTSW	10	63136294	missense	probably damaging	1.00
R5399:Mypn	UTSW	10	63120186	missense	probably benign	0.03
R5438:Mypn	UTSW	10	63135839	nonsense	probably null
R5590:Mypn	UTSW	10	63120048	missense	probably benign	0.27
R5652:Mypn	UTSW	10	63135801	missense	probably damaging	1.00
R5717:Mypn	UTSW	10	63127776	missense	probably damaging	1.00
R5970:Mypn	UTSW	10	63131023	missense	probably benign	0.36
R6616:Mypn	UTSW	10	63169312	missense	probably damaging	1.00
R6930:Mypn	UTSW	10	63116939	missense	probably damaging	1.00
R6987:Mypn	UTSW	10	63193131	missense	probably benign	0.00
R7020:Mypn	UTSW	10	63192510	missense	probably damaging	1.00
R7081:Mypn	UTSW	10	63134958	missense	probably damaging	1.00
R7477:Mypn	UTSW	10	63125721	missense	possibly damaging	0.89
R7534:Mypn	UTSW	10	63193131	missense	probably benign	0.00
R7853:Mypn	UTSW	10	63145873	missense	probably benign	0.00
R8367:Mypn	UTSW	10	63135760	missense	probably damaging	1.00
R8464:Mypn	UTSW	10	63131198	nonsense	probably null
R8750:Mypn	UTSW	10	63167257	missense	probably benign	0.00
R8947:Mypn	UTSW	10	63169377	missense	probably damaging	0.97
R8998:Mypn	UTSW	10	63162271	nonsense	probably null
R8999:Mypn	UTSW	10	63162271	nonsense	probably null
R9032:Mypn	UTSW	10	63148115	splice site	probably null
R9085:Mypn	UTSW	10	63148115	splice site	probably null
R9130:Mypn	UTSW	10	63192873	missense	probably benign	0.10
R9484:Mypn	UTSW	10	63167240	missense	probably benign	0.31
X0022:Mypn	UTSW	10	63136063	missense	probably benign

Predicted Primers

Posted On

2018-04-10