Mutagenetix > Incidental Mutation

Incidental Mutation 'R1780:Mypn'

197462

Institutional Source

Beutler Lab

Gene Symbol

Mypn

Ensembl Gene

ENSMUSG00000020067

Gene Name

myopalladin

Synonyms

1110056A04Rik

MMRRC Submission

039811-MU

Accession Numbers

Genbank: NM_182992; MGI: 1916052

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R1780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63115795-63203952 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63121964 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 24 (Y24C)

Ref Sequence

ENSEMBL: ENSMUSP00000151637 (fasta)

Gene Model

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

AlphaFold

Q5DTJ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000095580
AA Change: Y1139C

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

SMART Domains

Protein: ENSMUSP00000093240
Gene: ENSMUSG00000020067
AA Change: Y1139C

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: Y24C

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

Meta Mutation Damage Score

0.9388

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (80/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,852,593	E493G	probably damaging	Het
Aff3	A	T	1: 38,535,702	S66T	probably damaging	Het
Ankrd17	T	A	5: 90,232,415	K2470N	probably damaging	Het
Ap3m1	T	C	14: 21,041,070	T156A	probably benign	Het
Arhgef4	T	A	1: 34,724,160	S832R	possibly damaging	Het
Asb10	T	C	5: 24,533,676	D423G	possibly damaging	Het
Ash1l	A	G	3: 88,965,984	T25A	probably benign	Het
Atp13a2	T	A	4: 141,002,460	L663I	possibly damaging	Het
Atp9b	A	T	18: 80,776,897	Y174*	probably null	Het
Bche	A	G	3: 73,700,620	I491T	probably benign	Het
Bckdhb	T	C	9: 83,953,783		probably null	Het
Cadps2	C	T	6: 23,320,932		probably null	Het
Cdc42bpb	A	T	12: 111,322,907	V468E	probably damaging	Het
Chrnd	T	C	1: 87,192,548	V33A	possibly damaging	Het
Col6a5	A	T	9: 105,936,878	V645D	unknown	Het
Cpa1	C	T	6: 30,643,008	L312F	probably damaging	Het
Cyp2a5	A	G	7: 26,841,876		probably benign	Het
Cyp2c39	C	A	19: 39,538,851		probably benign	Het
Cyp2d26	T	C	15: 82,794,007	N56S	probably damaging	Het
Ddx21	A	G	10: 62,594,147		probably benign	Het
Dnah11	A	T	12: 118,027,558	C2358S	probably damaging	Het
Entpd8	T	C	2: 25,084,306	S368P	probably benign	Het
Epg5	A	T	18: 78,023,990	Q2222L	probably damaging	Het
Ercc5	T	A	1: 44,167,796	V623E	probably benign	Het
Flg2	A	G	3: 93,202,999	E778G	unknown	Het
Gbe1	C	T	16: 70,495,324	R515*	probably null	Het
Hsd17b6	A	G	10: 127,994,327		probably null	Het
Hyal6	C	T	6: 24,734,032		probably benign	Het
Ifi27l2b	A	G	12: 103,451,319	I203T	probably damaging	Het
Kcnk9	A	C	15: 72,512,401	D309E	unknown	Het
Lrp6	C	T	6: 134,464,451	R1184Q	probably damaging	Het
Mdn1	T	C	4: 32,700,103	F1399L	probably damaging	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Mx1	T	C	16: 97,451,512	*289W	probably null	Het
Myo7b	T	C	18: 31,961,185	E1970G	probably damaging	Het
Naxe	G	C	3: 88,057,133	P167A	probably benign	Het
Nmnat2	A	T	1: 153,112,440	K272*	probably null	Het
Nmnat3	C	T	9: 98,354,111	T19M	probably damaging	Het
Olfr1275	T	C	2: 111,231,698	I32V	probably benign	Het
Olfr1412	G	A	1: 92,588,389	V20M	probably benign	Het
Olfr1474	A	G	19: 13,471,362	T131A	probably benign	Het
Olfr64	A	T	7: 103,893,555	F60Y	probably damaging	Het
Olfr66	A	G	7: 103,881,592	V217A	probably benign	Het
Pgm3	T	G	9: 86,556,204	E509D	probably damaging	Het
Phf3	A	T	1: 30,811,942	D1110E	probably damaging	Het
Pkd1	T	G	17: 24,581,569	S3062A	probably benign	Het
Pogz	A	T	3: 94,870,126	K372N	possibly damaging	Het
Pou1f1	A	G	16: 65,523,470	Y15C	probably benign	Het
Ppfia2	A	G	10: 106,896,507	T972A	possibly damaging	Het
Rasip1	A	G	7: 45,635,318	Y703C	possibly damaging	Het
Recql	T	A	6: 142,364,598	Q502L	probably benign	Het
Rgs9	A	T	11: 109,239,499	Y383*	probably null	Het
Rimbp3	T	C	16: 17,212,632	S1307P	probably benign	Het
Rspo1	A	G	4: 125,007,745	T200A	probably damaging	Het
Ryr3	C	T	2: 112,867,292	M922I	probably damaging	Het
Samm50	C	T	15: 84,211,127	A438V	probably damaging	Het
Sec1	A	C	7: 45,678,832	S264A	probably benign	Het
Sec31a	A	T	5: 100,381,336		probably null	Het
Slc13a3	T	C	2: 165,406,699	N553S	unknown	Het
Smg6	T	A	11: 74,946,116	L852Q	probably damaging	Het
Spata13	A	G	14: 60,691,725	N244S	probably damaging	Het
Srbd1	T	C	17: 86,057,685	R648G	probably damaging	Het
Sugct	T	G	13: 17,452,454		probably null	Het
Tmed10	A	G	12: 85,354,879	Y85H	probably damaging	Het
Trim68	A	G	7: 102,684,073	I134T	possibly damaging	Het
Trio	A	G	15: 27,744,038	C2603R	possibly damaging	Het
Tspyl3	G	A	2: 153,225,256	R21W	probably damaging	Het
Ttn	T	C	2: 76,810,699	I11863V	probably null	Het
Ubp1	G	A	9: 113,964,579	A283T	possibly damaging	Het
Ubtf	A	T	11: 102,314,918	F60L	probably damaging	Het
Vmn1r235	T	C	17: 21,261,737	I108T	probably benign	Het
Vmn2r125	T	C	4: 156,351,373	S349P	probably damaging	Het
Vmn2r25	A	G	6: 123,828,465	S478P	probably damaging	Het
Vmn2r88	T	A	14: 51,418,572	V746D	probably damaging	Het
Zcwpw1	A	G	5: 137,796,652	K37E	probably damaging	Het
Zdhhc24	T	C	19: 4,883,766	S284P	probably damaging	Het
Zswim8	C	A	14: 20,716,327	H841N	probably damaging	Het

Other mutations in Mypn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00938:Mypn	APN	10	63192423	missense	probably damaging	1.00
IGL01137:Mypn	APN	10	63152854	missense	probably benign	0.12
IGL01383:Mypn	APN	10	63135797	missense	probably damaging	1.00
IGL01560:Mypn	APN	10	63134964	missense	probably benign	0.27
IGL01569:Mypn	APN	10	63127759	missense	probably damaging	1.00
IGL02197:Mypn	APN	10	63123278	missense	possibly damaging	0.69
IGL02829:Mypn	APN	10	63192586	missense	probably benign	0.01
IGL03221:Mypn	APN	10	63131123	missense	probably damaging	1.00
IGL03377:Mypn	APN	10	63192865	missense	probably benign	0.01
2107:Mypn	UTSW	10	63203751	utr 5 prime	probably benign
PIT4576001:Mypn	UTSW	10	63120071	missense	probably damaging	1.00
R0115:Mypn	UTSW	10	63192380	splice site	probably benign
R0377:Mypn	UTSW	10	63127622	unclassified	probably benign
R0480:Mypn	UTSW	10	63193203	missense	probably benign	0.01
R0581:Mypn	UTSW	10	63162244	missense	probably benign	0.06
R0669:Mypn	UTSW	10	63134923	splice site	probably benign
R0822:Mypn	UTSW	10	63169256	missense	probably damaging	1.00
R1209:Mypn	UTSW	10	63118499	missense	probably damaging	1.00
R1401:Mypn	UTSW	10	63152857	missense	probably damaging	0.96
R1513:Mypn	UTSW	10	63169368	missense	probably damaging	0.99
R1750:Mypn	UTSW	10	63136197	missense	probably benign	0.01
R1791:Mypn	UTSW	10	63125693	missense	probably damaging	0.97
R1859:Mypn	UTSW	10	63146190	missense	probably benign
R1903:Mypn	UTSW	10	63123397	missense	probably benign	0.06
R2275:Mypn	UTSW	10	63131069	missense	probably damaging	1.00
R2420:Mypn	UTSW	10	63192869	nonsense	probably null
R3425:Mypn	UTSW	10	63118417	splice site	probably benign
R3767:Mypn	UTSW	10	63125707	missense	possibly damaging	0.88
R3768:Mypn	UTSW	10	63125707	missense	possibly damaging	0.88
R3770:Mypn	UTSW	10	63125707	missense	possibly damaging	0.88
R3777:Mypn	UTSW	10	63147982	missense	possibly damaging	0.92
R3785:Mypn	UTSW	10	63193182	missense	probably benign	0.43
R3888:Mypn	UTSW	10	63192510	missense	probably damaging	1.00
R4289:Mypn	UTSW	10	63131182	missense	probably damaging	1.00
R4301:Mypn	UTSW	10	63118484	missense	probably damaging	1.00
R4366:Mypn	UTSW	10	63192708	missense	probably benign	0.00
R4459:Mypn	UTSW	10	63192432	missense	probably damaging	1.00
R4921:Mypn	UTSW	10	63147936	missense	possibly damaging	0.75
R4995:Mypn	UTSW	10	63119968	splice site	probably null
R5064:Mypn	UTSW	10	63123371	missense	possibly damaging	0.68
R5083:Mypn	UTSW	10	63118528	missense	probably damaging	0.98
R5108:Mypn	UTSW	10	63136294	missense	probably damaging	1.00
R5399:Mypn	UTSW	10	63120186	missense	probably benign	0.03
R5438:Mypn	UTSW	10	63135839	nonsense	probably null
R5590:Mypn	UTSW	10	63120048	missense	probably benign	0.27
R5652:Mypn	UTSW	10	63135801	missense	probably damaging	1.00
R5717:Mypn	UTSW	10	63127776	missense	probably damaging	1.00
R5970:Mypn	UTSW	10	63131023	missense	probably benign	0.36
R6616:Mypn	UTSW	10	63169312	missense	probably damaging	1.00
R6930:Mypn	UTSW	10	63116939	missense	probably damaging	1.00
R6987:Mypn	UTSW	10	63193131	missense	probably benign	0.00
R7020:Mypn	UTSW	10	63192510	missense	probably damaging	1.00
R7081:Mypn	UTSW	10	63134958	missense	probably damaging	1.00
R7477:Mypn	UTSW	10	63125721	missense	possibly damaging	0.89
R7534:Mypn	UTSW	10	63193131	missense	probably benign	0.00
R7853:Mypn	UTSW	10	63145873	missense	probably benign	0.00
R8367:Mypn	UTSW	10	63135760	missense	probably damaging	1.00
R8464:Mypn	UTSW	10	63131198	nonsense	probably null
R8750:Mypn	UTSW	10	63167257	missense	probably benign	0.00
R8947:Mypn	UTSW	10	63169377	missense	probably damaging	0.97
R8998:Mypn	UTSW	10	63162271	nonsense	probably null
R8999:Mypn	UTSW	10	63162271	nonsense	probably null
R9032:Mypn	UTSW	10	63148115	splice site	probably null
R9085:Mypn	UTSW	10	63148115	splice site	probably null
R9130:Mypn	UTSW	10	63192873	missense	probably benign	0.10
R9484:Mypn	UTSW	10	63167240	missense	probably benign	0.31
X0022:Mypn	UTSW	10	63136063	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAAAGGTTACCTGTAGCACCTGCC -3'
(R):5'- ATGAATCTGCCTGTCTGTGTCGTC -3'

Sequencing Primer
(F):5'- TTACTACGTACCTCAGAAAGCGG -3'
(R):5'- CGTCCACGTTGGCTGTTC -3'

Posted On

2014-05-23