Mutagenetix > Incidental Mutations

Incidental Mutation 'R7020:Mypn'

545572

Institutional Source

Beutler Lab

Gene Symbol

Mypn

Ensembl Gene

ENSMUSG00000020067

Gene Name

myopalladin

Synonyms

1110056A04Rik

MMRRC Submission

Accession Numbers

Genbank: NM_182992; MGI: 1916052

Is this an essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R7020 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63115795-63203952 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63192510 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 258 (Y258C)

Ref Sequence

ENSEMBL: ENSMUSP00000093240 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000095580
AA Change: Y258C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093240
Gene: ENSMUSG00000020067
AA Change: Y258C

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

Coding Region Coverage

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

Validation Efficiency

100% (52/52)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	C	T	12: 110,668,541	G188R	probably damaging	Het
Abhd3	T	C	18: 10,645,127	Y384C	probably damaging	Het
Cd209b	T	A	8: 3,918,783	E282V	probably damaging	Het
Cep350	A	C	1: 155,928,331	L1002W	probably damaging	Het
Clcn1	T	C	6: 42,298,820	V292A	probably damaging	Het
Clcn7	T	C	17: 25,146,351	I107T	possibly damaging	Het
Cntrob	A	G	11: 69,303,092		probably null	Het
Crb1	A	T	1: 139,231,603	S1294T	possibly damaging	Het
Cst13	T	G	2: 148,823,209	Y41*	probably null	Het
Gp1ba	A	G	11: 70,640,313		probably benign	Het
Gucy2e	A	T	11: 69,232,793	L427I	probably benign	Het
Gucy2g	A	G	19: 55,233,050	S340P	probably damaging	Het
Herc1	A	G	9: 66,486,078	T4080A	probably benign	Het
Iglon5	A	T	7: 43,476,895	C195S	probably damaging	Het
Itgae	A	G	11: 73,111,369	T100A	probably damaging	Het
Jarid2	C	T	13: 44,884,824	S205L	probably damaging	Het
Macrod2	A	T	2: 142,389,875	*424C	probably null	Het
Map2k6	A	T	11: 110,506,714		probably benign	Het
Muc4	A	T	16: 32,751,810	K563*	probably null	Het
Myh7b	T	C	2: 155,631,751	I1568T	possibly damaging	Het
Myo15b	G	A	11: 115,866,667	W1114*	probably null	Het
Notch1	T	C	2: 26,481,574	T288A	possibly damaging	Het
Npc1	C	T	18: 12,198,537	G859R	probably damaging	Het
Olfm2	T	A	9: 20,668,568	R326W	probably damaging	Het
Olfr1000	A	G	2: 85,608,632	S93P	probably benign	Het
Olfr1043	A	G	2: 86,162,019	I310T	probably benign	Het
Olfr13	T	C	6: 43,174,162	Y59H	possibly damaging	Het
Ovol1	G	A	19: 5,560,233	P23L	probably damaging	Het
Pappa2	C	A	1: 158,848,009	V1056F	probably damaging	Het
Pik3ca	T	C	3: 32,436,279	L25S	probably damaging	Het
Pla2r1	T	C	2: 60,447,399	H860R	possibly damaging	Het
Pms1	A	T	1: 53,189,382	H902Q	probably damaging	Het
Ptgs1	T	G	2: 36,251,029	L496R	probably damaging	Het
Ralgapa2	A	T	2: 146,346,718	Y1381*	probably null	Het
Rtl1	T	C	12: 109,592,315	Q1030R	possibly damaging	Het
Ryr3	T	A	2: 112,753,078	Y2816F	probably benign	Het
Sh2b2	T	C	5: 136,224,299	T340A	possibly damaging	Het
Slc30a5	T	A	13: 100,824,913		probably null	Het
Spta1	T	C	1: 174,209,352	L1143P	probably damaging	Het
St8sia5	T	C	18: 77,246,180	I178T	probably damaging	Het
Tap2	A	G	17: 34,214,414	N517S	possibly damaging	Het
Tcp11	A	G	17: 28,071,705	Y227H	possibly damaging	Het
Usp34	A	G	11: 23,393,954	D1411G	probably benign	Het
Vmn2r105	A	G	17: 20,209,074	L580P	probably damaging	Het
Wdr19	A	G	5: 65,256,314	E1200G	probably damaging	Het
Xirp2	T	C	2: 67,525,569	V3558A	probably benign	Het
Xpo7	T	C	14: 70,666,023	N1082S	probably benign	Het
Zbtb49	A	T	5: 38,213,367	L390*	probably null	Het
Zfp639	C	A	3: 32,520,112	D295E	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
R4995:Mypn	UTSW	10	63119968	intron	probably null
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
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
X0022:Mypn	UTSW	10	63136063	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTGGAGCAACGATCATGGC -3'
(R):5'- TCCCAAAACAAAGTTCTGCAGG -3'

Sequencing Primer
(F):5'- CAACGATCATGGCAAACAGAATTG -3'
(R):5'- CTTTCTCAGATCTAACAGAAAGGCG -3'

Posted On

2019-05-13