Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01569:Mypn'

91096

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mypn

Ensembl Gene

ENSMUSG00000020067

Gene Name

myopalladin

Synonyms

1110056A04Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01569

Quality Score

Status

Chromosome

Chromosomal Location

62951574-63039731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62963538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 978 (G978R)

Ref Sequence

ENSEMBL: ENSMUSP00000093240 (fasta)

Gene Model

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

AlphaFold

Q5DTJ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000095580
AA Change: G978R

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

SMART Domains

Protein: ENSMUSP00000093240
Gene: ENSMUSG00000020067
AA Change: G978R

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

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,215,827 (GRCm39)	V311A	probably benign	Het
Bdh1	T	C	16: 31,273,909 (GRCm39)	M194T	probably benign	Het
Dnmbp	T	C	19: 43,863,295 (GRCm39)	R808G	probably benign	Het
Esco2	T	C	14: 66,063,977 (GRCm39)	I402M	probably benign	Het
Gm5422	T	C	10: 31,125,897 (GRCm39)		noncoding transcript	Het
Il5ra	C	A	6: 106,708,794 (GRCm39)	M1I	probably null	Het
Kcnk4	T	A	19: 6,904,545 (GRCm39)	I240F	probably damaging	Het
Mast4	T	C	13: 102,897,523 (GRCm39)	E698G	probably damaging	Het
Mkln1	A	G	6: 31,405,063 (GRCm39)		probably benign	Het
Or2m12	T	C	16: 19,105,410 (GRCm39)	T28A	probably benign	Het
Podn	T	A	4: 107,881,496 (GRCm39)	Y6F	probably damaging	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Rad54l	T	C	4: 115,956,195 (GRCm39)	D544G	probably damaging	Het
Reck	C	A	4: 43,925,172 (GRCm39)	S470R	probably benign	Het
Sik3	A	G	9: 46,123,024 (GRCm39)	H891R	probably benign	Het
Tbata	C	T	10: 61,011,739 (GRCm39)	R92*	probably null	Het
Tdrd1	A	G	19: 56,822,841 (GRCm39)	N103S	probably damaging	Het
Timm21	A	G	18: 84,969,400 (GRCm39)	V8A	probably benign	Het
Tnn	A	G	1: 159,948,124 (GRCm39)	V863A	possibly damaging	Het
Togaram1	A	G	12: 65,029,436 (GRCm39)	D953G	possibly damaging	Het
Tpm1	T	C	9: 66,938,390 (GRCm39)		probably null	Het
Trgv4	A	G	13: 19,369,678 (GRCm39)		probably benign	Het
Vmn1r8	A	T	6: 57,013,272 (GRCm39)	N108Y	possibly damaging	Het
Vmn1r89	T	C	7: 12,953,432 (GRCm39)	M56T	probably benign	Het
Ythdc2	A	G	18: 45,020,718 (GRCm39)	E1434G	probably benign	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
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
R3888:Mypn	UTSW	10	63,028,289 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-12-09