Incidental Mutation 'R1859:Mypn'
ID 204234
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 # R1859 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 62951574-63039731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62981969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 537 (D537G)
Ref Sequence ENSEMBL: ENSMUSP00000093240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095580]
AlphaFold Q5DTJ9
Predicted Effect probably benign
Transcript: ENSMUST00000095580
AA Change: D537G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093240
Gene: ENSMUSG00000020067
AA Change: D537G

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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik C T 12: 110,637,268 (GRCm39) probably benign Het
Adcy10 A G 1: 165,349,530 (GRCm39) E467G probably damaging Het
Alkbh8 A G 9: 3,385,499 (GRCm39) D597G probably benign Het
Alpk1 T A 3: 127,474,749 (GRCm39) H418L possibly damaging Het
Ano5 G T 7: 51,196,581 (GRCm39) V138L probably damaging Het
Aspg T A 12: 112,087,606 (GRCm39) I319K possibly damaging Het
Atp9b T C 18: 80,793,135 (GRCm39) T970A possibly damaging Het
Brd10 A C 19: 29,732,323 (GRCm39) C230G possibly damaging Het
C4b T A 17: 34,954,527 (GRCm39) M881L probably benign Het
Cd209c A T 8: 3,994,953 (GRCm39) N70K probably benign Het
Cdca5 T C 19: 6,140,124 (GRCm39) V95A possibly damaging Het
Cds2 A G 2: 132,144,115 (GRCm39) Y297C probably damaging Het
Celsr2 C T 3: 108,303,946 (GRCm39) G2371S probably damaging Het
Cemip2 T C 19: 21,825,341 (GRCm39) V1213A possibly damaging Het
Chd5 T A 4: 152,464,980 (GRCm39) I1557N probably benign Het
Cntn5 C T 9: 9,972,839 (GRCm39) E266K probably damaging Het
Crtam G A 9: 40,884,900 (GRCm39) T363M possibly damaging Het
Dnah2 A G 11: 69,328,712 (GRCm39) S3298P probably damaging Het
Dok1 A T 6: 83,009,226 (GRCm39) Y209N probably damaging Het
Dpp10 T C 1: 123,281,333 (GRCm39) D561G possibly damaging Het
Drosha A G 15: 12,878,804 (GRCm39) K710R probably benign Het
Dse T C 10: 34,029,225 (GRCm39) T622A probably benign Het
Duxf4 A G 10: 58,071,602 (GRCm39) V204A probably benign Het
Ercc6 T C 14: 32,248,735 (GRCm39) S429P probably damaging Het
Fam135a A T 1: 24,069,306 (GRCm39) V521E probably damaging Het
Fbxl7 A T 15: 26,543,279 (GRCm39) L456Q probably damaging Het
Fbxo38 A G 18: 62,648,489 (GRCm39) I683T probably damaging Het
Foxc2 G T 8: 121,843,364 (GRCm39) R4L probably damaging Het
Glyctk C T 9: 106,034,731 (GRCm39) V112I probably benign Het
Guf1 G T 5: 69,725,803 (GRCm39) G481* probably null Het
Heatr1 T C 13: 12,418,040 (GRCm39) L324S probably damaging Het
Hectd1 A G 12: 51,853,350 (GRCm39) L57P probably damaging Het
Hmcn1 A T 1: 150,532,944 (GRCm39) C3080S probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ifit1 T A 19: 34,624,944 (GRCm39) F27I probably benign Het
Ift20 G T 11: 78,430,860 (GRCm39) E68* probably null Het
Itsn1 A G 16: 91,686,042 (GRCm39) probably benign Het
Ksr2 T A 5: 117,553,006 (GRCm39) L38Q probably damaging Het
Lama2 A T 10: 26,907,078 (GRCm39) M2361K possibly damaging Het
Lrrc56 A G 7: 140,787,421 (GRCm39) M353V probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Map3k9 A T 12: 81,771,256 (GRCm39) S800R possibly damaging Het
Mef2a A G 7: 66,915,766 (GRCm39) S179P probably damaging Het
Micall1 A G 15: 79,007,145 (GRCm39) probably benign Het
Mpg A G 11: 32,181,957 (GRCm39) probably null Het
Mpp7 A T 18: 7,350,967 (GRCm39) *577K probably null Het
Msh4 G T 3: 153,611,517 (GRCm39) H35Q probably benign Het
Mst1 G A 9: 107,961,545 (GRCm39) V601I probably benign Het
Myh10 T A 11: 68,636,239 (GRCm39) N246K probably benign Het
Myom3 C A 4: 135,506,707 (GRCm39) N493K probably benign Het
Ncan A T 8: 70,567,998 (GRCm39) M38K possibly damaging Het
Ndufaf6 G T 4: 11,053,474 (GRCm39) H277Q probably benign Het
Nos1 A T 5: 118,043,527 (GRCm39) N601Y possibly damaging Het
Nrxn2 G A 19: 6,538,825 (GRCm39) V794I probably benign Het
Or10q12 T A 19: 13,746,088 (GRCm39) Y127* probably null Het
Or13a17 T A 7: 140,271,571 (GRCm39) V251E possibly damaging Het
Or13c7b A T 4: 43,820,779 (GRCm39) I194N possibly damaging Het
Or2y17 T C 11: 49,232,211 (GRCm39) L284P probably damaging Het
Or8h9 T C 2: 86,789,425 (GRCm39) I126V probably damaging Het
Parp4 T C 14: 56,886,372 (GRCm39) V1817A unknown Het
Pfdn1 C A 18: 36,584,153 (GRCm39) M60I probably benign Het
Ppp1r3c T C 19: 36,711,011 (GRCm39) N253S probably damaging Het
Prdm5 A G 6: 65,808,263 (GRCm39) I42V probably benign Het
Prom2 T G 2: 127,383,017 (GRCm39) Q75P probably damaging Het
Ptpn23 T C 9: 110,217,938 (GRCm39) D669G possibly damaging Het
Rag1 T C 2: 101,474,407 (GRCm39) D245G probably benign Het
Rpl22l1 T A 3: 28,860,747 (GRCm39) probably null Het
Sars2 T C 7: 28,443,737 (GRCm39) V113A probably damaging Het
Sbno2 T A 10: 79,894,473 (GRCm39) K1067* probably null Het
Sec61g A G 11: 16,456,371 (GRCm39) probably null Het
Slc4a11 A T 2: 130,529,932 (GRCm39) M282K probably benign Het
Slc5a4a T C 10: 76,002,569 (GRCm39) S242P probably benign Het
Sparc A T 11: 55,297,334 (GRCm39) probably null Het
Thra T A 11: 98,646,977 (GRCm39) C33S probably damaging Het
Trrap A T 5: 144,767,761 (GRCm39) T2293S probably benign Het
Ttn T A 2: 76,724,989 (GRCm39) probably benign Het
Vat1l T A 8: 114,998,041 (GRCm39) V195E probably damaging Het
Vmn1r60 T A 7: 5,547,549 (GRCm39) I184F possibly damaging Het
Wdfy4 A G 14: 32,825,940 (GRCm39) I1192T probably damaging Het
Zbtb10 T C 3: 9,345,446 (GRCm39) S737P possibly damaging Het
Zfp553 A G 7: 126,834,517 (GRCm39) E24G probably benign Het
Zscan30 A G 18: 24,104,524 (GRCm39) noncoding transcript 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
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'- TAGGTTGAAGTGCACCCGTAG -3'
(R):5'- TCACCATTCTCGAATGCTCCAG -3'

Sequencing Primer
(F):5'- TAGCCCAATCCTGGAGCTG -3'
(R):5'- CGAATGCTCCAGATTTGGC -3'
Posted On 2014-06-23