Incidental Mutation 'R3770:Mypn'
ID 273221
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 # R3770 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 62951574-63039731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 62961486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 1035 (L1035F)
Ref Sequence ENSEMBL: ENSMUSP00000093240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095580] [ENSMUST00000218978]
AlphaFold Q5DTJ9
Predicted Effect possibly damaging
Transcript: ENSMUST00000095580
AA Change: L1035F

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093240
Gene: ENSMUSG00000020067
AA Change: L1035F

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000218978
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox1 T C 11: 116,065,213 (GRCm39) D578G probably damaging Het
Adgrb1 T A 15: 74,460,157 (GRCm39) I543N probably damaging Het
Agbl1 T C 7: 76,075,677 (GRCm39) probably null Het
Ano1 A G 7: 144,149,306 (GRCm39) Y852H probably damaging Het
Apol9a G C 15: 77,288,596 (GRCm39) T257S probably benign Het
Arhgap23 A T 11: 97,366,932 (GRCm39) D1071V probably damaging Het
Atp1a1 T C 3: 101,488,510 (GRCm39) D842G probably benign Het
Brd7 A T 8: 89,066,035 (GRCm39) probably null Het
Btbd7 G A 12: 102,761,451 (GRCm39) P578L probably damaging Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Cfap54 C T 10: 92,714,398 (GRCm39) M2660I unknown Het
Dock7 T C 4: 98,859,066 (GRCm39) T1409A probably benign Het
Exoc3l4 A G 12: 111,391,989 (GRCm39) D410G probably benign Het
Foxk2 CGGGGGG CGGGGGGGGG 11: 121,151,317 (GRCm39) probably benign Het
Herc2 A G 7: 55,814,755 (GRCm39) I2703V probably benign Het
Ifna7 T C 4: 88,734,964 (GRCm39) V167A probably damaging Het
Iqcg G A 16: 32,870,378 (GRCm39) silent Het
Klf3 A G 5: 64,984,560 (GRCm39) probably null Het
Krtap12-1 G T 10: 77,556,729 (GRCm39) V91L probably benign Het
Lipo5 G T 19: 33,445,200 (GRCm39) T123N unknown Het
Macf1 A G 4: 123,268,560 (GRCm39) S4689P probably damaging Het
Map3k5 T A 10: 19,900,765 (GRCm39) V313D probably damaging Het
Neurl1a T C 19: 47,228,328 (GRCm39) L58P probably damaging Het
Or5aq1 C T 2: 86,966,158 (GRCm39) C169Y probably damaging Het
Pla2g5 C G 4: 138,528,746 (GRCm39) C70S probably damaging Het
Pole4 G A 6: 82,599,095 (GRCm39) R119C possibly damaging Het
Ppm1h G T 10: 122,740,027 (GRCm39) L367F probably damaging Het
Ptpru C T 4: 131,535,735 (GRCm39) C414Y probably damaging Het
Rasal3 A T 17: 32,611,125 (GRCm39) L912Q probably damaging Het
Reln C T 5: 22,153,564 (GRCm39) V2247M probably damaging Het
Rhot2 T C 17: 26,059,521 (GRCm39) D407G probably benign Het
Rreb1 C T 13: 38,113,579 (GRCm39) R313W possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scn11a T A 9: 119,613,115 (GRCm39) D825V probably damaging Het
Slc12a3 A G 8: 95,079,668 (GRCm39) H832R probably benign Het
Slc27a2 A G 2: 126,409,718 (GRCm39) D300G possibly damaging Het
Sos1 A G 17: 80,705,737 (GRCm39) V1278A probably damaging Het
Sstr3 C A 15: 78,424,577 (GRCm39) V57L probably damaging Het
Tex2 T A 11: 106,435,078 (GRCm39) R783W unknown Het
Tjp2 A T 19: 24,078,190 (GRCm39) I901N probably benign Het
Top1 A T 2: 160,563,442 (GRCm39) I758F probably damaging Het
Trim41 T C 11: 48,699,911 (GRCm39) E98G possibly damaging Het
Vmn2r65 A T 7: 84,589,623 (GRCm39) N764K probably damaging Het
Vmn2r81 A T 10: 79,106,434 (GRCm39) I471F probably damaging Het
Wdr25 G A 12: 108,864,346 (GRCm39) V164M probably damaging Het
Zdhhc13 T A 7: 48,452,692 (GRCm39) L5M probably damaging Het
Zfp747l1 A G 7: 126,984,035 (GRCm39) probably benign Het
Other mutations in Mypn
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGGGCAGAACACCAATGC -3'
(R):5'- TTGAACACAGAAAGTCTATTCGTTG -3'

Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- GTTTTGGCGGAGATAACAC -3'
Posted On 2015-03-25