Incidental Mutation 'R8998:Mypn'
ID 684821
Institutional Source Beutler Lab
Gene Symbol Mypn
Ensembl Gene ENSMUSG00000020067
Gene Name myopalladin
Synonyms 1110056A04Rik
MMRRC Submission 068829-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # R8998 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 62951574-63039731 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 62998050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 420 (L420*)
Ref Sequence ENSEMBL: ENSMUSP00000093240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095580]
AlphaFold Q5DTJ9
Predicted Effect probably null
Transcript: ENSMUST00000095580
AA Change: L420*
SMART Domains Protein: ENSMUSP00000093240
Gene: ENSMUSG00000020067
AA Change: L420*

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aipl1 T C 11: 71,921,083 (GRCm39) E245G possibly damaging Het
Cd6 A T 19: 10,776,642 (GRCm39) C128S probably damaging Het
Cep41 T C 6: 30,666,165 (GRCm39) D98G probably benign Het
Cfap52 T C 11: 67,818,137 (GRCm39) K525E probably damaging Het
Ddx10 T C 9: 53,140,534 (GRCm39) E289G possibly damaging Het
Dnah1 T C 14: 31,018,235 (GRCm39) T1428A probably benign Het
Dsg3 T C 18: 20,666,684 (GRCm39) L631P probably damaging Het
Dusp19 T A 2: 80,461,271 (GRCm39) C187S probably benign Het
Efcab3 A T 11: 104,640,477 (GRCm39) M1072L probably benign Het
Fap T C 2: 62,367,368 (GRCm39) H338R probably benign Het
Gabrg1 T A 5: 70,973,378 (GRCm39) I59F probably benign Het
Glb1l3 A T 9: 26,764,914 (GRCm39) probably null Het
Igkv8-26 C A 6: 70,170,514 (GRCm39) A35E probably benign Het
Ikzf1 A G 11: 11,635,013 (GRCm39) probably benign Het
Krt18 A C 15: 101,939,874 (GRCm39) E357D probably damaging Het
Lbr C T 1: 181,646,512 (GRCm39) G470E probably damaging Het
Map2 A T 1: 66,452,473 (GRCm39) K454N possibly damaging Het
Map2k3 T C 11: 60,840,817 (GRCm39) V282A Het
Men1 G A 19: 6,389,960 (GRCm39) V538I probably benign Het
Mfn1 T A 3: 32,623,683 (GRCm39) M621K possibly damaging Het
Mpdz C A 4: 81,202,882 (GRCm39) G1838* probably null Het
Msantd5f9 G C 4: 73,837,420 (GRCm39) N99K probably damaging Het
Nkx6-1 T C 5: 101,812,082 (GRCm39) M7V unknown Het
Notum G A 11: 120,545,207 (GRCm39) H451Y probably benign Het
Odad2 C A 18: 7,211,574 (GRCm39) V767L possibly damaging Het
Or11i1 A T 3: 106,728,999 (GRCm39) I292N probably damaging Het
Or2b28 A G 13: 21,531,988 (GRCm39) K297E probably damaging Het
Or6c3 A G 10: 129,309,386 (GRCm39) N275S probably benign Het
Pabpc4l A C 3: 46,400,783 (GRCm39) I287S probably benign Het
Pcdha2 C T 18: 37,073,428 (GRCm39) T353M possibly damaging Het
Plekha1 T C 7: 130,510,199 (GRCm39) I315T unknown Het
Ppp2r2b C T 18: 42,870,993 (GRCm39) A106T probably benign Het
Prkch T C 12: 73,742,973 (GRCm39) V209A probably damaging Het
Ptprc A G 1: 138,028,930 (GRCm39) C284R probably damaging Het
Ptprf A G 4: 118,083,671 (GRCm39) V804A probably benign Het
Rbp3 C T 14: 33,684,360 (GRCm39) R1130* probably null Het
Serpina6 C G 12: 103,617,988 (GRCm39) R275P probably damaging Het
Six3 T A 17: 85,931,164 (GRCm39) H273Q probably benign Het
Stk35 C A 2: 129,652,509 (GRCm39) P337T probably damaging Het
Supt5 A G 7: 28,037,848 (GRCm39) S2P unknown Het
Tnik A G 3: 28,719,920 (GRCm39) Y1264C probably damaging Het
Trim45 A G 3: 100,838,960 (GRCm39) T621A unknown Het
Tyrp1 T C 4: 80,763,094 (GRCm39) L327P probably damaging Het
Vmn2r69 A C 7: 85,060,307 (GRCm39) S426A 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
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
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'- CCTAGACCTAGCTGTAACACCATAG -3'
(R):5'- GTGTATTTTACAGCCAGCCTGAC -3'

Sequencing Primer
(F):5'- GCTGTAACACCATAGAAACTTCTG -3'
(R):5'- CCTAGGAAGAACTGCAATAGATTTG -3'
Posted On 2021-10-11