Mutagenetix > Incidental Mutation

Incidental Mutation 'R3888:Mypn'

312869

Institutional Source

Beutler Lab

Gene Symbol

Mypn

Ensembl Gene

ENSMUSG00000020067

Gene Name

myopalladin

Synonyms

1110056A04Rik

MMRRC Submission

040800-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R3888 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62951574-63039731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63028289 bp (GRCm39)

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]

AlphaFold

Q5DTJ9

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

Meta Mutation Damage Score

0.0842

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	A	1: 85,868,273 (GRCm39)		probably null	Het
Acbd6	A	G	1: 155,500,643 (GRCm39)	D201G	probably damaging	Het
Adam17	G	A	12: 21,375,588 (GRCm39)	R744C	probably damaging	Het
Adss2	A	G	1: 177,595,335 (GRCm39)	Y402H	probably damaging	Het
Ano3	T	A	2: 110,715,345 (GRCm39)	K31I	probably damaging	Het
B930094E09Rik	G	A	18: 31,742,742 (GRCm39)	S59N	unknown	Het
Cmya5	T	G	13: 93,230,164 (GRCm39)	R1641S	probably benign	Het
Cps1	C	A	1: 67,204,659 (GRCm39)	T493K	possibly damaging	Het
Dmxl1	T	A	18: 50,011,326 (GRCm39)	M1161K	probably damaging	Het
Etl4	C	T	2: 20,534,772 (GRCm39)	Q76*	probably null	Het
Fn1	T	C	1: 71,679,465 (GRCm39)	Y511C	probably damaging	Het
Foxd2	T	C	4: 114,765,483 (GRCm39)	H179R	unknown	Het
Frem1	T	C	4: 82,831,844 (GRCm39)	R1991G	probably benign	Het
Gimap7	G	A	6: 48,700,779 (GRCm39)	E122K	probably benign	Het
Hps3	A	G	3: 20,057,387 (GRCm39)		probably null	Het
Kctd2	A	T	11: 115,318,345 (GRCm39)	K209N	probably damaging	Het
Lcor	T	A	19: 41,546,795 (GRCm39)	S126R	probably damaging	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Muc5ac	T	C	7: 141,344,961 (GRCm39)	V144A	possibly damaging	Het
Ntf3	T	C	6: 126,079,405 (GRCm39)	M21V	probably benign	Het
Or4a71	T	A	2: 89,358,076 (GRCm39)	H226L	possibly damaging	Het
Or5b97	A	T	19: 12,878,497 (GRCm39)	C216S	probably benign	Het
Or6c1	A	T	10: 129,518,088 (GRCm39)	D173E	probably benign	Het
Or6c1	G	A	10: 129,518,087 (GRCm39)	H174Y	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbm45	A	G	2: 76,205,768 (GRCm39)	S207G	probably benign	Het
Robo3	G	A	9: 37,333,477 (GRCm39)	Q723*	probably null	Het
Rreb1	G	T	13: 38,077,941 (GRCm39)	R51L	probably damaging	Het
Slc12a6	T	A	2: 112,097,375 (GRCm39)	L70Q	possibly damaging	Het
Slc15a2	A	G	16: 36,602,666 (GRCm39)	F65S	probably damaging	Het
Slitrk5	T	A	14: 111,917,229 (GRCm39)	C284*	probably null	Het
Smim17	G	T	7: 6,432,279 (GRCm39)	G74C	probably damaging	Het
Snapc4	G	A	2: 26,255,510 (GRCm39)	Q1005*	probably null	Het
Suv39h2	G	A	2: 3,465,845 (GRCm39)	T170I	probably benign	Het
Thrb	A	G	14: 18,033,551 (GRCm38)	K424R	probably damaging	Het
Tm4sf4	C	T	3: 57,345,166 (GRCm39)	Q191*	probably null	Het
Trak1	G	T	9: 121,271,863 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,540,618 (GRCm39)	S25796P	probably damaging	Het
Ugp2	T	C	11: 21,303,366 (GRCm39)	R80G	probably benign	Het
Utp15	C	T	13: 98,395,674 (GRCm39)	V103I	probably benign	Het
Wdr3	A	T	3: 100,061,222 (GRCm39)	S249T	probably benign	Het
Zeb1	T	A	18: 5,748,743 (GRCm39)	D86E	probably damaging	Het

Other mutations in Mypn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00938:Mypn	APN	10	63,028,202 (GRCm39)	missense	probably damaging	1.00
IGL01137:Mypn	APN	10	62,988,633 (GRCm39)	missense	probably benign	0.12
IGL01383:Mypn	APN	10	62,971,576 (GRCm39)	missense	probably damaging	1.00
IGL01560:Mypn	APN	10	62,970,743 (GRCm39)	missense	probably benign	0.27
IGL01569:Mypn	APN	10	62,963,538 (GRCm39)	missense	probably damaging	1.00
IGL02197:Mypn	APN	10	62,959,057 (GRCm39)	missense	possibly damaging	0.69
IGL02829:Mypn	APN	10	63,028,365 (GRCm39)	missense	probably benign	0.01
IGL03221:Mypn	APN	10	62,966,902 (GRCm39)	missense	probably damaging	1.00
IGL03377:Mypn	APN	10	63,028,644 (GRCm39)	missense	probably benign	0.01
2107:Mypn	UTSW	10	63,039,530 (GRCm39)	utr 5 prime	probably benign
PIT4576001:Mypn	UTSW	10	62,955,850 (GRCm39)	missense	probably damaging	1.00
R0115:Mypn	UTSW	10	63,028,159 (GRCm39)	splice site	probably benign
R0377:Mypn	UTSW	10	62,963,401 (GRCm39)	unclassified	probably benign
R0480:Mypn	UTSW	10	63,028,982 (GRCm39)	missense	probably benign	0.01
R0581:Mypn	UTSW	10	62,998,023 (GRCm39)	missense	probably benign	0.06
R0669:Mypn	UTSW	10	62,970,702 (GRCm39)	splice site	probably benign
R0822:Mypn	UTSW	10	63,005,035 (GRCm39)	missense	probably damaging	1.00
R1209:Mypn	UTSW	10	62,954,278 (GRCm39)	missense	probably damaging	1.00
R1401:Mypn	UTSW	10	62,988,636 (GRCm39)	missense	probably damaging	0.96
R1513:Mypn	UTSW	10	63,005,147 (GRCm39)	missense	probably damaging	0.99
R1750:Mypn	UTSW	10	62,971,976 (GRCm39)	missense	probably benign	0.01
R1780:Mypn	UTSW	10	62,957,743 (GRCm39)	missense	probably damaging	1.00
R1791:Mypn	UTSW	10	62,961,472 (GRCm39)	missense	probably damaging	0.97
R1859:Mypn	UTSW	10	62,981,969 (GRCm39)	missense	probably benign
R1903:Mypn	UTSW	10	62,959,176 (GRCm39)	missense	probably benign	0.06
R2275:Mypn	UTSW	10	62,966,848 (GRCm39)	missense	probably damaging	1.00
R2420:Mypn	UTSW	10	63,028,648 (GRCm39)	nonsense	probably null
R3425:Mypn	UTSW	10	62,954,196 (GRCm39)	splice site	probably benign
R3767:Mypn	UTSW	10	62,961,486 (GRCm39)	missense	possibly damaging	0.88
R3768:Mypn	UTSW	10	62,961,486 (GRCm39)	missense	possibly damaging	0.88
R3770:Mypn	UTSW	10	62,961,486 (GRCm39)	missense	possibly damaging	0.88
R3777:Mypn	UTSW	10	62,983,761 (GRCm39)	missense	possibly damaging	0.92
R3785:Mypn	UTSW	10	63,028,961 (GRCm39)	missense	probably benign	0.43
R4289:Mypn	UTSW	10	62,966,961 (GRCm39)	missense	probably damaging	1.00
R4301:Mypn	UTSW	10	62,954,263 (GRCm39)	missense	probably damaging	1.00
R4366:Mypn	UTSW	10	63,028,487 (GRCm39)	missense	probably benign	0.00
R4459:Mypn	UTSW	10	63,028,211 (GRCm39)	missense	probably damaging	1.00
R4921:Mypn	UTSW	10	62,983,715 (GRCm39)	missense	possibly damaging	0.75
R4995:Mypn	UTSW	10	62,955,747 (GRCm39)	splice site	probably null
R5064:Mypn	UTSW	10	62,959,150 (GRCm39)	missense	possibly damaging	0.68
R5083:Mypn	UTSW	10	62,954,307 (GRCm39)	missense	probably damaging	0.98
R5108:Mypn	UTSW	10	62,972,073 (GRCm39)	missense	probably damaging	1.00
R5399:Mypn	UTSW	10	62,955,965 (GRCm39)	missense	probably benign	0.03
R5438:Mypn	UTSW	10	62,971,618 (GRCm39)	nonsense	probably null
R5590:Mypn	UTSW	10	62,955,827 (GRCm39)	missense	probably benign	0.27
R5652:Mypn	UTSW	10	62,971,580 (GRCm39)	missense	probably damaging	1.00
R5717:Mypn	UTSW	10	62,963,555 (GRCm39)	missense	probably damaging	1.00
R5970:Mypn	UTSW	10	62,966,802 (GRCm39)	missense	probably benign	0.36
R6616:Mypn	UTSW	10	63,005,091 (GRCm39)	missense	probably damaging	1.00
R6930:Mypn	UTSW	10	62,952,718 (GRCm39)	missense	probably damaging	1.00
R6987:Mypn	UTSW	10	63,028,910 (GRCm39)	missense	probably benign	0.00
R7020:Mypn	UTSW	10	63,028,289 (GRCm39)	missense	probably damaging	1.00
R7081:Mypn	UTSW	10	62,970,737 (GRCm39)	missense	probably damaging	1.00
R7477:Mypn	UTSW	10	62,961,500 (GRCm39)	missense	possibly damaging	0.89
R7534:Mypn	UTSW	10	63,028,910 (GRCm39)	missense	probably benign	0.00
R7853:Mypn	UTSW	10	62,981,652 (GRCm39)	missense	probably benign	0.00
R8367:Mypn	UTSW	10	62,971,539 (GRCm39)	missense	probably damaging	1.00
R8464:Mypn	UTSW	10	62,966,977 (GRCm39)	nonsense	probably null
R8750:Mypn	UTSW	10	63,003,036 (GRCm39)	missense	probably benign	0.00
R8947:Mypn	UTSW	10	63,005,156 (GRCm39)	missense	probably damaging	0.97
R8998:Mypn	UTSW	10	62,998,050 (GRCm39)	nonsense	probably null
R8999:Mypn	UTSW	10	62,998,050 (GRCm39)	nonsense	probably null
R9032:Mypn	UTSW	10	62,983,894 (GRCm39)	splice site	probably null
R9085:Mypn	UTSW	10	62,983,894 (GRCm39)	splice site	probably null
R9130:Mypn	UTSW	10	63,028,652 (GRCm39)	missense	probably benign	0.10
R9484:Mypn	UTSW	10	63,003,019 (GRCm39)	missense	probably benign	0.31
X0022:Mypn	UTSW	10	62,971,842 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCAACGATCATGGCAAACAG -3'
(R):5'- AAGGCTCACAGCTCCAAGAG -3'

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

Posted On

2015-04-30