Incidental Mutation 'IGL01137:Mypn'
ID 52151
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mypn
Ensembl Gene ENSMUSG00000020067
Gene Name myopalladin
Synonyms 1110056A04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # IGL01137
Quality Score
Status
Chromosome 10
Chromosomal Location 62951574-63039731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62988633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 464 (E464G)
Ref Sequence ENSEMBL: ENSMUSP00000093240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095580]
AlphaFold Q5DTJ9
Predicted Effect probably benign
Transcript: ENSMUST00000095580
AA Change: E464G

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000093240
Gene: ENSMUSG00000020067
AA Change: E464G

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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,292,492 (GRCm39) probably null Het
Ankrd11 T C 8: 123,611,075 (GRCm39) T2583A probably damaging Het
Anxa7 G A 14: 20,506,648 (GRCm39) Q431* probably null Het
Asb15 T A 6: 24,556,521 (GRCm39) D5E probably benign Het
Bex1 C A X: 135,115,243 (GRCm39) D29Y probably damaging Het
Cadm2 G A 16: 66,612,238 (GRCm39) T108I probably damaging Het
Cecr2 T G 6: 120,738,989 (GRCm39) L1211V probably damaging Het
Cntn2 T C 1: 132,449,035 (GRCm39) probably benign Het
Ctrc C A 4: 141,566,065 (GRCm39) V198L possibly damaging Het
Cyp2g1 A G 7: 26,513,684 (GRCm39) S208G possibly damaging Het
Ddx46 T A 13: 55,817,530 (GRCm39) Y718* probably null Het
Dlec1 T C 9: 118,966,379 (GRCm39) I1116T probably damaging Het
Dnajc13 A G 9: 104,037,689 (GRCm39) Y2177H probably benign Het
Dpp6 T C 5: 27,919,486 (GRCm39) F661S probably damaging Het
Dpy19l2 G A 9: 24,569,858 (GRCm39) T365I possibly damaging Het
Flot2 T C 11: 77,940,333 (GRCm39) Y27H probably damaging Het
Gsta4 T C 9: 78,113,204 (GRCm39) Y95H possibly damaging Het
Kir3dl1 A G X: 135,427,360 (GRCm39) T192A probably damaging Het
Llgl1 T A 11: 60,600,825 (GRCm39) N640K probably benign Het
Lrch1 C T 14: 74,994,532 (GRCm39) V691M probably damaging Het
Myh9 T C 15: 77,653,742 (GRCm39) D1302G probably benign Het
Myo18a T G 11: 77,718,655 (GRCm39) F935V probably damaging Het
Or52l1 A G 7: 104,829,695 (GRCm39) V290A probably benign Het
Or5ac25 A C 16: 59,182,335 (GRCm39) M82R probably benign Het
Or5b101 A T 19: 13,005,394 (GRCm39) F100I possibly damaging Het
Or8k38 A T 2: 86,488,055 (GRCm39) I249N possibly damaging Het
R3hdm1 C T 1: 128,109,612 (GRCm39) R39C probably damaging Het
Rps3a3 A T 13: 108,807,666 (GRCm39) probably benign Het
Sec24b C T 3: 129,801,093 (GRCm39) S401N probably benign Het
Slc22a22 C A 15: 57,117,674 (GRCm39) G289V probably damaging Het
Stk33 T C 7: 108,928,775 (GRCm39) I246V probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Timmdc1 A T 16: 38,338,747 (GRCm39) H114Q probably benign Het
Tlcd2 T C 11: 75,360,337 (GRCm39) Y127H probably damaging Het
Tnfrsf11a G A 1: 105,737,147 (GRCm39) D85N possibly damaging Het
Trbc2 T C 6: 41,524,751 (GRCm39) probably benign Het
Unc13b G A 4: 43,091,291 (GRCm39) R39H probably damaging Het
Vwa8 T C 14: 79,341,087 (GRCm39) L1521P probably damaging Het
Zbtb17 T A 4: 141,193,678 (GRCm39) C607* probably null Het
Other mutations in Mypn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00938:Mypn APN 10 63,028,202 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2013-06-21