Incidental Mutation 'IGL02829:Mypn'
ID361352
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mypn
Ensembl Gene ENSMUSG00000020067
Gene Namemyopalladin
Synonyms1110056A04Rik
Accession Numbers

Genbank: NM_182992; MGI: 1916052

Is this an essential gene? Probably non essential (E-score: 0.184) question?
Stock #IGL02829
Quality Score
Status
Chromosome10
Chromosomal Location63115795-63203952 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 63192586 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 233 (R233G)
Ref Sequence ENSEMBL: ENSMUSP00000093240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095580]
Predicted Effect probably benign
Transcript: ENSMUST00000095580
AA Change: R233G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000093240
Gene: ENSMUSG00000020067
AA Change: R233G

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbs9 A G 9: 22,579,484 T303A probably damaging Het
Bet1 T A 6: 4,086,795 M1L probably benign Het
Bicc1 A C 10: 70,958,880 V149G probably damaging Het
Braf C A 6: 39,627,728 L655F possibly damaging Het
Cd101 A G 3: 101,018,565 probably benign Het
Cobll1 T C 2: 65,126,045 K290E probably damaging Het
Col6a5 A T 9: 105,934,307 I671K unknown Het
D130052B06Rik A C 11: 33,623,864 T154P probably benign Het
Dglucy A C 12: 100,871,404 H602P probably damaging Het
Fbxo34 A G 14: 47,529,689 I220V probably benign Het
Gm42878 A G 5: 121,537,203 V101A probably damaging Het
Gsdmc4 A G 15: 63,892,648 L381P probably benign Het
Ifi208 C A 1: 173,682,840 P187H probably damaging Het
Lrrc37a A T 11: 103,491,174 C2473S unknown Het
Miip T A 4: 147,863,061 N214I probably benign Het
Mrc2 A G 11: 105,336,707 T589A possibly damaging Het
Mtss1 A G 15: 59,058,428 probably benign Het
Naip6 A T 13: 100,300,765 C417S probably benign Het
Olfr1084 T A 2: 86,639,255 Y151F possibly damaging Het
Olfr1216 A C 2: 89,013,677 L129W probably damaging Het
Olfr275 C T 4: 52,826,027 P210L probably damaging Het
Pcsk1 T C 13: 75,126,836 Y515H probably damaging Het
Pla2g2e T A 4: 138,880,436 Y42* probably null Het
Polh A T 17: 46,172,902 L479Q possibly damaging Het
Prr36 T A 8: 4,215,278 R157S possibly damaging Het
Reck T A 4: 43,891,014 C51S probably damaging Het
Rev3l A G 10: 39,825,240 D1911G probably damaging Het
Scgb1b27 A T 7: 34,021,748 probably null Het
Sema4g G A 19: 44,992,749 R47Q possibly damaging Het
Serinc1 A T 10: 57,523,965 Y158* probably null Het
Slc15a2 C A 16: 36,757,193 G435C possibly damaging Het
Tbc1d17 C A 7: 44,848,872 probably benign Het
Tenm4 C T 7: 96,894,998 Q2074* probably null Het
Tns3 A G 11: 8,519,564 C244R probably damaging Het
Vmn2r2 A T 3: 64,118,751 probably benign Het
Vmn2r44 T A 7: 8,377,880 Q338L possibly damaging Het
Wdr70 C T 15: 7,976,982 D363N possibly damaging Het
Yipf7 A T 5: 69,541,091 S24R probably benign Het
Other mutations in Mypn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00938:Mypn APN 10 63192423 missense probably damaging 1.00
IGL01137:Mypn APN 10 63152854 missense probably benign 0.12
IGL01383:Mypn APN 10 63135797 missense probably damaging 1.00
IGL01560:Mypn APN 10 63134964 missense probably benign 0.27
IGL01569:Mypn APN 10 63127759 missense probably damaging 1.00
IGL02197:Mypn APN 10 63123278 missense possibly damaging 0.69
IGL03221:Mypn APN 10 63131123 missense probably damaging 1.00
IGL03377:Mypn APN 10 63192865 missense probably benign 0.01
2107:Mypn UTSW 10 63203751 utr 5 prime probably benign
PIT4576001:Mypn UTSW 10 63120071 missense probably damaging 1.00
R0115:Mypn UTSW 10 63192380 splice site probably benign
R0377:Mypn UTSW 10 63127622 unclassified probably benign
R0480:Mypn UTSW 10 63193203 missense probably benign 0.01
R0581:Mypn UTSW 10 63162244 missense probably benign 0.06
R0669:Mypn UTSW 10 63134923 splice site probably benign
R0822:Mypn UTSW 10 63169256 missense probably damaging 1.00
R1209:Mypn UTSW 10 63118499 missense probably damaging 1.00
R1401:Mypn UTSW 10 63152857 missense probably damaging 0.96
R1513:Mypn UTSW 10 63169368 missense probably damaging 0.99
R1750:Mypn UTSW 10 63136197 missense probably benign 0.01
R1780:Mypn UTSW 10 63121964 missense probably damaging 1.00
R1791:Mypn UTSW 10 63125693 missense probably damaging 0.97
R1859:Mypn UTSW 10 63146190 missense probably benign
R1903:Mypn UTSW 10 63123397 missense probably benign 0.06
R2275:Mypn UTSW 10 63131069 missense probably damaging 1.00
R2420:Mypn UTSW 10 63192869 nonsense probably null
R3425:Mypn UTSW 10 63118417 splice site probably benign
R3767:Mypn UTSW 10 63125707 missense possibly damaging 0.88
R3768:Mypn UTSW 10 63125707 missense possibly damaging 0.88
R3770:Mypn UTSW 10 63125707 missense possibly damaging 0.88
R3777:Mypn UTSW 10 63147982 missense possibly damaging 0.92
R3785:Mypn UTSW 10 63193182 missense probably benign 0.43
R3888:Mypn UTSW 10 63192510 missense probably damaging 1.00
R4289:Mypn UTSW 10 63131182 missense probably damaging 1.00
R4301:Mypn UTSW 10 63118484 missense probably damaging 1.00
R4366:Mypn UTSW 10 63192708 missense probably benign 0.00
R4459:Mypn UTSW 10 63192432 missense probably damaging 1.00
R4921:Mypn UTSW 10 63147936 missense possibly damaging 0.75
R4995:Mypn UTSW 10 63119968 intron probably null
R5064:Mypn UTSW 10 63123371 missense possibly damaging 0.68
R5083:Mypn UTSW 10 63118528 missense probably damaging 0.98
R5108:Mypn UTSW 10 63136294 missense probably damaging 1.00
R5399:Mypn UTSW 10 63120186 missense probably benign 0.03
R5438:Mypn UTSW 10 63135839 nonsense probably null
R5590:Mypn UTSW 10 63120048 missense probably benign 0.27
R5652:Mypn UTSW 10 63135801 missense probably damaging 1.00
R5717:Mypn UTSW 10 63127776 missense probably damaging 1.00
R5970:Mypn UTSW 10 63131023 missense probably benign 0.36
R6616:Mypn UTSW 10 63169312 missense probably damaging 1.00
R6930:Mypn UTSW 10 63116939 missense probably damaging 1.00
R6987:Mypn UTSW 10 63193131 missense probably benign 0.00
R7020:Mypn UTSW 10 63192510 missense probably damaging 1.00
R7081:Mypn UTSW 10 63134958 missense probably damaging 1.00
R7477:Mypn UTSW 10 63125721 missense possibly damaging 0.89
R7534:Mypn UTSW 10 63193131 missense probably benign 0.00
X0022:Mypn UTSW 10 63136063 missense probably benign
Posted On2015-12-18