Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01383:Mypn'

78946

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: 0.148) question?

Stock #

IGL01383

Quality Score

Status

Chromosome

Chromosomal Location

62951574-63039731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62971576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 821 (N821K)

Ref Sequence

ENSEMBL: ENSMUSP00000093240 (fasta)

Gene Model

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

AlphaFold

Q5DTJ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000095580
AA Change: N821K

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

SMART Domains

Protein: ENSMUSP00000093240
Gene: ENSMUSG00000020067
AA Change: N821K

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930555G01Rik	C	A	14: 5,051,570 (GRCm38)		probably null	Het
Abca9	A	C	11: 110,004,119 (GRCm39)		probably benign	Het
Aox1	T	A	1: 58,333,464 (GRCm39)	M227K	probably benign	Het
Asb5	T	A	8: 55,003,544 (GRCm39)	L22H	probably damaging	Het
Atrx	T	C	X: 104,845,681 (GRCm39)	D2309G	probably damaging	Het
Cand1	T	A	10: 119,044,072 (GRCm39)	T1074S	probably damaging	Het
Cep97	T	C	16: 55,731,970 (GRCm39)	E534G	probably damaging	Het
Cftr	C	A	6: 18,226,040 (GRCm39)	N329K	probably benign	Het
Clec7a	T	C	6: 129,449,603 (GRCm39)	T16A	probably damaging	Het
Col1a1	G	A	11: 94,836,351 (GRCm39)	R674H	probably damaging	Het
Csf2rb2	T	C	15: 78,181,243 (GRCm39)	S50G	possibly damaging	Het
Eepd1	A	G	9: 25,393,778 (GRCm39)	D14G	probably damaging	Het
Fsd1	C	T	17: 56,303,733 (GRCm39)	S491F	probably damaging	Het
Grin1	C	A	2: 25,186,979 (GRCm39)	R694L	possibly damaging	Het
Gtf3c1	A	G	7: 125,298,672 (GRCm39)	I151T	probably damaging	Het
Havcr2	T	C	11: 46,360,375 (GRCm39)	S152P	probably damaging	Het
Hvcn1	T	C	5: 122,375,766 (GRCm39)	V15A	probably damaging	Het
Iqca1l	A	T	5: 24,753,292 (GRCm39)	N453K	probably benign	Het
Map3k10	C	T	7: 27,357,424 (GRCm39)	V785M	probably benign	Het
Mis18bp1	T	C	12: 65,195,763 (GRCm39)	N667S	probably benign	Het
Mup3	A	C	4: 62,004,196 (GRCm39)	Y106D	probably damaging	Het
Odad1	T	C	7: 45,589,124 (GRCm39)	S179P	probably damaging	Het
Or2y1c	T	A	11: 49,361,880 (GRCm39)	W301R	probably benign	Het
Or52b4	A	G	7: 102,184,140 (GRCm39)	Y62C	probably benign	Het
Or5ac25	A	T	16: 59,182,316 (GRCm39)	N88K	probably benign	Het
Or5i1	A	G	2: 87,613,217 (GRCm39)	D111G	possibly damaging	Het
Pcdhb10	A	T	18: 37,546,328 (GRCm39)	H468L	probably benign	Het
Pramel27	T	G	4: 143,573,102 (GRCm39)		probably benign	Het
Prp2	C	A	6: 132,576,841 (GRCm39)	P43T	unknown	Het
Psg26	A	G	7: 18,214,179 (GRCm39)	V161A	possibly damaging	Het
Rab17	T	G	1: 90,887,815 (GRCm39)	D115A	probably damaging	Het
Rrp1b	T	C	17: 32,277,552 (GRCm39)	F611L	probably damaging	Het
Skor1	T	A	9: 63,053,838 (GRCm39)	T44S	probably benign	Het
Spaca5	T	C	X: 20,934,725 (GRCm39)		probably benign	Het
Tatdn3	G	A	1: 190,787,578 (GRCm39)		probably benign	Het
Tbk1	T	C	10: 121,412,184 (GRCm39)	D118G	probably damaging	Het
Tnfsf13b	T	C	8: 10,081,528 (GRCm39)	F230S	probably damaging	Het
Tnrc6c	T	C	11: 117,605,083 (GRCm39)	S73P	probably benign	Het
Vmn2r109	A	G	17: 20,761,383 (GRCm39)	V658A	possibly damaging	Het
Vmn2r116	C	T	17: 23,620,575 (GRCm39)	L770F	probably damaging	Het
Wwp2	T	A	8: 108,259,923 (GRCm39)		probably null	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
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
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

2013-11-05