Mutagenetix > Incidental Mutations

Incidental Mutation 'R6930:Mypn'

539963

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: 0.216) question?

Stock #

R6930 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63115795-63203952 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 63116939 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 174 (I174S)

Ref Sequence

ENSEMBL: ENSMUSP00000151637 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000095580
AA Change: I1289S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093240
Gene: ENSMUSG00000020067
AA Change: I1289S

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 damaging
Transcript: ENSMUST00000218978
AA Change: I174S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.5%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,516,563	D156E	probably benign	Het
2010300C02Rik	A	T	1: 37,624,945	I624N	possibly damaging	Het
Adam17	A	T	12: 21,353,948	V99E	probably damaging	Het
Akr1e1	T	C	13: 4,602,715	D41G	probably damaging	Het
Alcam	T	C	16: 52,305,655	I100V	probably benign	Het
Atr	T	C	9: 95,866,635	I411T	probably benign	Het
Bbs4	T	C	9: 59,323,481	S453G	probably benign	Het
Brdt	C	T	5: 107,359,215	L494F	probably benign	Het
Ccser1	T	C	6: 62,380,025	S816P	probably benign	Het
Cdk10	T	C	8: 123,230,608	I157T	probably damaging	Het
Ceacam5	G	A	7: 17,750,834		probably null	Het
Chst15	T	C	7: 132,269,030	I259V	possibly damaging	Het
Csmd1	A	T	8: 16,092,395	M1498K	probably damaging	Het
D630045J12Rik	T	C	6: 38,158,216	D1343G	probably damaging	Het
Denr	T	C	5: 123,908,187	Y27H	probably benign	Het
Dopey1	T	C	9: 86,531,772		probably null	Het
Epg5	T	C	18: 78,014,163	F1819S	probably damaging	Het
Flg2	T	A	3: 93,201,335	Y223*	probably null	Het
Fry	T	C	5: 150,428,230	L1733P	probably benign	Het
Gabrb2	T	C	11: 42,597,613	V302A	probably damaging	Het
Gimap9	G	A	6: 48,677,667	D53N	probably damaging	Het
Gje1	G	T	10: 14,718,142	L3I	possibly damaging	Het
Gm49383	G	T	12: 69,192,812	A645E	probably damaging	Het
Gm8947	G	A	1: 151,192,596	G60D	probably damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Gys2	A	G	6: 142,459,380		probably null	Het
Hace1	A	G	10: 45,618,502	H136R	probably damaging	Het
Herc3	T	G	6: 58,916,459	V902G	probably damaging	Het
Hspbp1	T	C	7: 4,684,607	R2G	probably benign	Het
Iqch	T	A	9: 63,480,574	K811N	possibly damaging	Het
Kmt2a	A	G	9: 44,842,665		probably benign	Het
Lonrf2	A	T	1: 38,804,336	V372D	probably benign	Het
Lpin2	T	C	17: 71,244,791	Y729H	probably damaging	Het
Lrrc32	A	G	7: 98,499,264	N417S	possibly damaging	Het
Malrd1	T	A	2: 15,797,667	C1064S	unknown	Het
Mast3	G	A	8: 70,799,471	R20*	probably null	Het
Nrg1	G	A	8: 31,818,506	T505M	probably damaging	Het
Olfr1340	A	G	4: 118,727,141	K298R	probably damaging	Het
Olfr18	A	G	9: 20,314,099	Y266H	probably damaging	Het
Olfr220	A	G	1: 174,449,111	I163V	probably damaging	Het
Olfr8	A	G	10: 78,955,781	D192G	possibly damaging	Het
Phf3	T	C	1: 30,811,877	E1132G	probably damaging	Het
Pla2g4d	A	T	2: 120,270,633	M521K	probably damaging	Het
Plekhg1	A	G	10: 3,963,770	H1164R	possibly damaging	Het
Plxnb2	A	G	15: 89,160,389	V1218A	probably benign	Het
Pold1	A	G	7: 44,542,206	S119P	probably benign	Het
Pole	T	A	5: 110,293,290	D203E	probably benign	Het
Rapgefl1	T	A	11: 98,847,121	L387Q	probably damaging	Het
Rbm33	T	C	5: 28,352,506	I199T	probably benign	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Rufy1	C	A	11: 50,398,380	R545L	probably benign	Het
Ryr3	T	A	2: 112,860,354	D1117V	probably damaging	Het
Sap130	T	C	18: 31,682,088	V621A	possibly damaging	Het
Sparcl1	T	A	5: 104,087,074	Y525F	probably damaging	Het
Spon2	A	G	5: 33,216,427	V180A	probably benign	Het
Trav10n	G	A	14: 53,122,490	V75M	probably benign	Het
Ttc34	T	C	4: 154,839,086	L84P	probably damaging	Het
Vmn1r23	C	T	6: 57,926,145	R216K	probably benign	Het
Vmn2r61	A	G	7: 42,299,940	T595A	probably benign	Het
Vmn2r66	T	A	7: 85,012,008	I5F	possibly damaging	Het
Zfp879	C	T	11: 50,833,012	G406R	probably damaging	Het
Zic2	A	T	14: 122,476,457	D261V	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
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
X0022:Mypn	UTSW	10	63136063	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAACTCACTCCAATCCAGTTGTTTG -3'
(R):5'- AGACTCACCTGTGCTTAAATGC -3'

Sequencing Primer
(F):5'- GTTTGGAAACCACTGCATACGGTC -3'
(R):5'- TGCTTTACCAAGGATTCACAGG -3'

Posted On

2018-11-06