Mutagenetix > Incidental Mutation

Incidental Mutation 'R3785:Mypn'

272220

Institutional Source

Beutler Lab

Gene Symbol

Mypn

Ensembl Gene

ENSMUSG00000020067

Gene Name

myopalladin

Synonyms

1110056A04Rik

MMRRC Submission

040752-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R3785 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62951574-63039731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63028961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 34 (R34L)

Ref Sequence

ENSEMBL: ENSMUSP00000093240 (fasta)

Gene Model

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

AlphaFold

Q5DTJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000095580
AA Change: R34L

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000093240
Gene: ENSMUSG00000020067
AA Change: R34L

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

0.1261

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

95% (38/40)

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
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
A2ml1	C	T	6: 128,521,887 (GRCm39)		probably null	Het
Aak1	T	C	6: 86,942,560 (GRCm39)	F701S	unknown	Het
Arid2	T	A	15: 96,270,439 (GRCm39)	D1517E	possibly damaging	Het
Cyp2r1	C	T	7: 114,153,931 (GRCm39)	V88I	possibly damaging	Het
Dennd3	T	C	15: 73,419,426 (GRCm39)	V739A	possibly damaging	Het
Dnah11	G	T	12: 117,981,337 (GRCm39)	Q2610K	probably damaging	Het
Gm5698	T	C	1: 31,016,560 (GRCm39)	T164A	probably benign	Het
Gpt2	G	T	8: 86,252,202 (GRCm39)	V506L	probably benign	Het
Gpx6	A	G	13: 21,497,956 (GRCm39)	T76A	probably benign	Het
Htra3	A	T	5: 35,828,472 (GRCm39)	L136H	probably benign	Het
Ifitm10	G	A	7: 141,882,335 (GRCm39)	T145I	possibly damaging	Het
Inpp5k	T	C	11: 75,538,512 (GRCm39)	L461P	probably damaging	Het
Kcnd3	C	A	3: 105,575,541 (GRCm39)	T555K	possibly damaging	Het
Kif13b	C	T	14: 65,037,849 (GRCm39)	T1505I	probably benign	Het
Mcf2l	G	T	8: 12,930,099 (GRCm39)	G40C	probably damaging	Het
Mettl3	A	T	14: 52,537,363 (GRCm39)	I102N	probably benign	Het
Muc5b	C	T	7: 141,418,853 (GRCm39)	T3933I	possibly damaging	Het
Mus81	G	A	19: 5,535,389 (GRCm39)		probably benign	Het
Myo15a	A	T	11: 60,368,398 (GRCm39)	Y386F	probably damaging	Het
Neurod1	T	A	2: 79,284,939 (GRCm39)	N148I	probably damaging	Het
Or4f56	T	C	2: 111,703,831 (GRCm39)	Y123C	probably damaging	Het
Or8g32	T	C	9: 39,305,678 (GRCm39)	V197A	probably benign	Het
Or9g3	G	A	2: 85,589,797 (GRCm39)	P308S	probably benign	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rnf5	A	G	17: 34,820,906 (GRCm39)		probably null	Het
Sacs	C	A	14: 61,421,410 (GRCm39)	Q116K	probably damaging	Het
Sall4	A	G	2: 168,598,043 (GRCm39)	S266P	probably damaging	Het
Senp6	T	G	9: 79,999,568 (GRCm39)	I74S	probably benign	Het
Slc13a4	T	A	6: 35,264,827 (GRCm39)	T131S	probably damaging	Het
Slc9a4	C	A	1: 40,623,130 (GRCm39)	P123Q	probably damaging	Het
Stxbp4	T	A	11: 90,426,441 (GRCm39)		probably null	Het
Swt1	T	C	1: 151,255,155 (GRCm39)	D814G	probably benign	Het
Synrg	T	C	11: 83,892,746 (GRCm39)	F613S	probably damaging	Het
Tekt1	A	G	11: 72,235,720 (GRCm39)	I376T	probably damaging	Het
Ttbk2	A	T	2: 120,604,296 (GRCm39)		probably benign	Het
Txnl4b	C	T	8: 110,299,409 (GRCm39)	A123V	probably damaging	Het
Wap	G	A	11: 6,588,550 (GRCm39)	Q25*	probably null	Het
Zfp26	A	T	9: 20,349,098 (GRCm39)	C489S	probably damaging	Het
Zfp804b	G	A	5: 6,820,153 (GRCm39)	T934M	possibly 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
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'- ATGCTTCGTCTGGTCGGAAG -3'
(R):5'- AGTCTCTGTGCTGAAGTAAAGGC -3'

Sequencing Primer
(F):5'- TCGGAAGACAGACGCTTCCTG -3'
(R):5'- GAAGTAAAGGCAGGCTTGTTATTCC -3'

Posted On

2015-03-25