Mutagenetix > Incidental Mutation

Incidental Mutation 'R0581:Mypn'

56430

Institutional Source

Beutler Lab

Gene Symbol

Mypn

Ensembl Gene

ENSMUSG00000020067

Gene Name

myopalladin

Synonyms

1110056A04Rik

MMRRC Submission

038771-MU

Accession Numbers

Essential gene?

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

Stock #

R0581 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

62951574-63039731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62998023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 429 (I429T)

Ref Sequence

ENSEMBL: ENSMUSP00000093240 (fasta)

Gene Model

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

AlphaFold

Q5DTJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000095580
AA Change: I429T

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000093240
Gene: ENSMUSG00000020067
AA Change: I429T

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

0.0973

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.3%
20x: 93.7%

Validation Efficiency

95% (42/44)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,100,620 (GRCm39)	T2761A	probably benign	Het
Apold1	G	A	6: 134,960,776 (GRCm39)	V77I	probably benign	Het
Atad2	T	C	15: 57,990,060 (GRCm39)	T139A	probably benign	Het
Cacna1a	A	T	8: 85,328,565 (GRCm39)	I1668F	possibly damaging	Het
Ccer2	T	A	7: 28,456,451 (GRCm39)		probably benign	Het
Cyp2c54	T	A	19: 40,035,999 (GRCm39)	T304S	probably benign	Het
Dpp4	T	A	2: 62,187,020 (GRCm39)	M497L	probably benign	Het
Evpl	T	A	11: 116,120,316 (GRCm39)	I541L	probably benign	Het
Ggn	A	G	7: 28,871,729 (GRCm39)	T370A	probably benign	Het
Ghr	A	G	15: 3,418,116 (GRCm39)		probably benign	Het
Gm6605	C	A	7: 38,147,699 (GRCm39)		noncoding transcript	Het
Gpr68	G	C	12: 100,844,815 (GRCm39)	P243R	probably damaging	Het
Gtf3c2	G	T	5: 31,316,862 (GRCm39)	Y720*	probably null	Het
Il2rb	T	A	15: 78,366,136 (GRCm39)	Y387F	possibly damaging	Het
Kcnu1	T	A	8: 26,427,529 (GRCm39)	V282E	probably damaging	Het
Krt222	G	A	11: 99,127,018 (GRCm39)	Q201*	probably null	Het
Lats1	A	G	10: 7,578,705 (GRCm39)	T610A	possibly damaging	Het
Mroh2a	GT	GTT	1: 88,183,888 (GRCm39)		probably null	Het
Myh7	T	C	14: 55,222,953 (GRCm39)	I751V	probably benign	Het
Nemf	A	T	12: 69,369,045 (GRCm39)	D723E	probably benign	Het
Nlrp4b	T	C	7: 10,448,457 (GRCm39)	L220P	probably damaging	Het
Npr3	T	A	15: 11,851,536 (GRCm39)	D418V	probably damaging	Het
Nsd3	A	G	8: 26,200,718 (GRCm39)	N1270S	probably damaging	Het
Or1j15	T	C	2: 36,458,834 (GRCm39)	S75P	probably damaging	Het
Or2g1	A	G	17: 38,106,993 (GRCm39)	I219M	probably damaging	Het
Otogl	G	A	10: 107,624,901 (GRCm39)	T1579I	possibly damaging	Het
Pkp2	T	A	16: 16,087,647 (GRCm39)		probably benign	Het
Psd3	T	C	8: 68,173,598 (GRCm39)	Y301C	probably damaging	Het
Psmb4	T	C	3: 94,793,479 (GRCm39)	H134R	probably damaging	Het
Ralgapb	A	G	2: 158,334,881 (GRCm39)	T1043A	probably benign	Het
Sec14l5	T	A	16: 4,996,349 (GRCm39)		probably null	Het
Serpina12	T	A	12: 103,997,399 (GRCm39)	Q374L	probably damaging	Het
Serpinb10	C	T	1: 107,474,692 (GRCm39)	R362*	probably null	Het
Sorcs1	T	A	19: 50,241,139 (GRCm39)	I416F	possibly damaging	Het
Sparcl1	T	C	5: 104,241,178 (GRCm39)	D82G	probably damaging	Het
Stat6	A	T	10: 127,483,985 (GRCm39)	Q89L	probably damaging	Het
Tat	A	G	8: 110,718,270 (GRCm39)	T52A	possibly damaging	Het
Yipf7	T	A	5: 69,678,406 (GRCm39)	I128F	probably benign	Het
Zfp112	T	A	7: 23,825,288 (GRCm39)	C419S	probably damaging	Het
Zzef1	A	G	11: 72,742,726 (GRCm39)	I769V	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
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
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'- CTGCCTGACGAGGAAAACTCCAC -3'
(R):5'- AGGCTAAGGCTACCTACAGACCTACA -3'

Sequencing Primer
(F):5'- aagaggaggaggaggaagag -3'
(R):5'- AGTGTATTTTACAGCCAGCCTG -3'

Posted On

2013-07-11