Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4576001:Mypn'

556382

Institutional Source

Beutler Lab

Gene Symbol

Mypn

Ensembl Gene

ENSMUSG00000020067

Gene Name

myopalladin

Synonyms

1110056A04Rik

Accession Numbers

Essential gene?

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

Stock #

PIT4576001 (G1)

Quality Score

165.009

Status

Not validated

Chromosome

Chromosomal Location

62951574-63039731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62955850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 1201 (K1201M)

Ref Sequence

ENSEMBL: ENSMUSP00000093240 (fasta)

Gene Model

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

AlphaFold

Q5DTJ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000095580
AA Change: K1201M

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

SMART Domains

Protein: ENSMUSP00000093240
Gene: ENSMUSG00000020067
AA Change: K1201M

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: K86M

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

Coding Region Coverage

1x: 93.1%
3x: 90.8%
10x: 85.3%
20x: 72.8%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	C	6: 65,929,983 (GRCm39)	S73P	probably damaging	Het
5730596B20Rik	G	T	6: 52,156,449 (GRCm39)	V172F	unknown	Het
Brms1	A	G	19: 5,096,229 (GRCm39)	K69E	probably damaging	Het
Calr4	A	C	4: 109,093,053 (GRCm39)	Q44H	possibly damaging	Het
Dnmt1	G	A	9: 20,823,071 (GRCm39)	T1242I	probably benign	Het
Dyrk3	A	G	1: 131,057,918 (GRCm39)	V85A	probably damaging	Het
Eif2a	T	C	3: 58,452,974 (GRCm39)	Y250H	probably damaging	Het
Esco1	T	C	18: 10,572,093 (GRCm39)	E749G	probably damaging	Het
Fat1	A	G	8: 45,477,682 (GRCm39)	I2243V	probably damaging	Het
Gh	A	T	11: 106,191,659 (GRCm39)	F128I	possibly damaging	Het
Gm17669	TAA	TAAA	18: 67,695,819 (GRCm39)		probably null	Het
Gtpbp4	A	G	13: 9,041,763 (GRCm39)	Y150H	probably damaging	Het
H2ac15	C	A	13: 21,937,781 (GRCm39)	D73Y	probably damaging	Het
Itga8	A	G	2: 12,234,903 (GRCm39)	S452P	probably benign	Het
Kcnma1	C	T	14: 23,359,103 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,367,114 (GRCm39)	E2549G	probably benign	Het
Mindy1	C	T	3: 95,195,380 (GRCm39)	A41V	probably benign	Het
Ncor1	A	G	11: 62,224,543 (GRCm39)	S906P	probably damaging	Het
Npy1r	T	C	8: 67,156,874 (GRCm39)	V98A	probably benign	Het
Pate2	A	G	9: 35,581,889 (GRCm39)	Y61C	probably damaging	Het
Pfdn2	A	G	1: 171,173,310 (GRCm39)	S11G	unknown	Het
Prdm1	T	C	10: 44,334,504 (GRCm39)	M1V	probably null	Het
Prelp	A	G	1: 133,842,903 (GRCm39)	S81P	possibly damaging	Het
Prss12	T	C	3: 123,280,764 (GRCm39)	V483A	probably damaging	Het
Prss43	G	C	9: 110,656,955 (GRCm39)	V154L	probably damaging	Het
Ptpru	G	A	4: 131,529,855 (GRCm39)	R618*	probably null	Het
Rpa1	A	G	11: 75,203,984 (GRCm39)	S288P	probably damaging	Het
Semp2l1	T	C	1: 32,585,553 (GRCm39)	E119G	probably damaging	Het
Siglec1	A	G	2: 130,920,081 (GRCm39)	F817L	probably damaging	Het
Skint6	T	A	4: 112,910,564 (GRCm39)	S545C	possibly damaging	Het
Slit1	A	T	19: 41,612,988 (GRCm39)	V844D	possibly damaging	Het
Suclg2	G	T	6: 95,563,999 (GRCm39)	D195E	possibly damaging	Het
Tln1	G	T	4: 43,539,998 (GRCm39)	A1537D	probably damaging	Het
Trpv2	A	G	11: 62,472,027 (GRCm39)	D73G	probably damaging	Het
Ucp3	T	C	7: 100,129,458 (GRCm39)	S98P	probably benign	Het
Usp19	T	A	9: 108,369,931 (GRCm39)		probably null	Het
Vmn2r112	T	C	17: 22,833,912 (GRCm39)	F527L	probably benign	Het
Vmn2r93	T	C	17: 18,533,473 (GRCm39)	V459A	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCTGGGCATTTGTCCTCAG -3'
(R):5'- GAGGCACTTGCTACCATTCAAATC -3'

Sequencing Primer
(F):5'- TTGGGAATTGAACTCAGGACCTC -3'
(R):5'- CTTGCTACCATTCAAATCGAAAAGTC -3'

Posted On

2019-06-07