Incidental Mutation 'R7853:Mypn'
ID 607079
Institutional Source Beutler Lab
Gene Symbol Mypn
Ensembl Gene ENSMUSG00000020067
Gene Name myopalladin
Synonyms 1110056A04Rik
MMRRC Submission 045906-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # R7853 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 62951574-63039731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62981652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 643 (I643F)
Ref Sequence ENSEMBL: ENSMUSP00000093240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095580]
AlphaFold Q5DTJ9
Predicted Effect probably benign
Transcript: ENSMUST00000095580
AA Change: I643F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000093240
Gene: ENSMUSG00000020067
AA Change: I643F

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: 99.6%
  • 20x: 98.8%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A G 2: 151,315,600 (GRCm39) I26T probably damaging Het
Aadacl4 G T 4: 144,344,592 (GRCm39) A123S probably benign Het
Adamts20 A C 15: 94,243,871 (GRCm39) C619G probably damaging Het
Ahcyl1 C A 3: 107,575,604 (GRCm39) V394L probably benign Het
Ankrd17 A C 5: 90,386,825 (GRCm39) L2378V possibly damaging Het
B3gnt3 T C 8: 72,145,357 (GRCm39) Y337C probably damaging Het
Bcl10 A G 3: 145,630,266 (GRCm39) K18R possibly damaging Het
Calcr G A 6: 3,707,499 (GRCm39) A267V probably benign Het
Ces1d C T 8: 93,901,695 (GRCm39) G425S probably benign Het
Col1a1 G T 11: 94,838,505 (GRCm39) R899L unknown Het
Commd1 C T 11: 22,906,532 (GRCm39) R168H possibly damaging Het
Cps1 T C 1: 67,213,640 (GRCm39) S791P possibly damaging Het
Ctsj T A 13: 61,151,884 (GRCm39) I58F probably damaging Het
Cyp2j5 T A 4: 96,529,656 (GRCm39) K238N probably benign Het
Dlgap4 A G 2: 156,547,802 (GRCm39) D423G probably benign Het
Eef1ece2 T A 16: 20,463,010 (GRCm39) probably null Het
Egln1 T C 8: 125,675,256 (GRCm39) N180D probably benign Het
Ehd1 T C 19: 6,327,225 (GRCm39) F74S probably damaging Het
Ext1 G A 15: 52,970,881 (GRCm39) A350V probably damaging Het
Fam186b T A 15: 99,178,628 (GRCm39) I233F probably damaging Het
Fam193a T G 5: 34,597,473 (GRCm39) N91K probably benign Het
Far1 T A 7: 113,153,355 (GRCm39) N329K probably damaging Het
Fhad1 A G 4: 141,637,134 (GRCm39) S1111P probably damaging Het
Fhl2 A G 1: 43,180,984 (GRCm39) S69P probably damaging Het
Flg2 C A 3: 93,128,054 (GRCm39) P2322Q unknown Het
Flvcr1 A G 1: 190,757,843 (GRCm39) Y108H probably damaging Het
Fos T A 12: 85,522,792 (GRCm39) S235T probably benign Het
Foxf1 T A 8: 121,811,438 (GRCm39) S101T probably damaging Het
Gfer C A 17: 24,913,259 (GRCm39) D198Y probably damaging Het
Ggps1 T C 13: 14,229,034 (GRCm39) I50V probably benign Het
Gkn2 A G 6: 87,355,255 (GRCm39) T155A probably benign Het
Gna12 C T 5: 140,746,449 (GRCm39) C332Y probably damaging Het
Hc T A 2: 34,900,045 (GRCm39) Y1096F probably damaging Het
Hoxa3 G A 6: 52,147,267 (GRCm39) probably benign Het
Hsd17b8 T G 17: 34,246,411 (GRCm39) D117A probably benign Het
Ifi206 A T 1: 173,299,100 (GRCm39) Y835* probably null Het
Ighv13-2 T G 12: 114,321,544 (GRCm39) E65A probably damaging Het
Kif5a A T 10: 127,071,537 (GRCm39) Y770* probably null Het
Lfng A G 5: 140,593,384 (GRCm39) S72G probably benign Het
Lipo2 C T 19: 33,737,344 (GRCm39) probably benign Het
Lnpep C T 17: 17,783,109 (GRCm39) S564N probably benign Het
Mfhas1 T A 8: 36,057,025 (GRCm39) L500* probably null Het
Mllt6 G A 11: 97,561,142 (GRCm39) V277I probably benign Het
Mroh5 C T 15: 73,663,189 (GRCm39) D192N probably benign Het
Myo1f T A 17: 33,795,672 (GRCm39) V106D probably damaging Het
Nup188 A G 2: 30,213,575 (GRCm39) N669D possibly damaging Het
Or14j5 C G 17: 38,161,714 (GRCm39) T77R probably damaging Het
Or2r11 A T 6: 42,437,573 (GRCm39) C127S probably damaging Het
Or5g26 T C 2: 85,494,689 (GRCm39) T30A probably benign Het
Or8s8 T C 15: 98,354,866 (GRCm39) V225A probably benign Het
Osbpl10 A G 9: 115,036,726 (GRCm39) T241A probably damaging Het
Peg3 C T 7: 6,711,839 (GRCm39) E1128K possibly damaging Het
Plch1 C A 3: 63,681,068 (GRCm39) M186I probably benign Het
Pon3 A C 6: 5,236,911 (GRCm39) L152R probably damaging Het
Prr36 G A 8: 4,263,905 (GRCm39) P587L unknown Het
Psma2 T A 13: 14,799,832 (GRCm39) I192N probably damaging Het
Rbm11 T C 16: 75,389,923 (GRCm39) F30L probably damaging Het
Rpap3 G A 15: 97,576,299 (GRCm39) A622V possibly damaging Het
Scgb2b11 T A 7: 31,908,807 (GRCm39) N98Y probably damaging Het
Siglec1 A G 2: 130,923,212 (GRCm39) L511P probably damaging Het
Sirpb1c C T 3: 15,887,156 (GRCm39) V228M probably damaging Het
Smpd4 T A 16: 17,460,605 (GRCm39) Y804N probably damaging Het
Sult6b2 T C 6: 142,747,524 (GRCm39) D75G not run Het
Sycp3 A C 10: 88,302,368 (GRCm39) K119N probably damaging Het
Syne2 T C 12: 76,078,278 (GRCm39) L4703P probably damaging Het
Tex12 C G 9: 50,470,523 (GRCm39) L20F possibly damaging Het
Them5 T A 3: 94,250,603 (GRCm39) Y55* probably null Het
Tmem43 A T 6: 91,458,968 (GRCm39) D213V probably benign Het
Tnfrsf10b A C 14: 70,005,239 (GRCm39) Q44P unknown Het
Trbv2 A T 6: 41,024,836 (GRCm39) Q84L probably benign Het
Trim2 C T 3: 84,212,537 (GRCm39) probably benign Het
Trim36 A G 18: 46,305,558 (GRCm39) V475A probably benign Het
Ttbk1 C A 17: 46,758,269 (GRCm39) E788D probably benign Het
Ttn T C 2: 76,543,626 (GRCm39) D33120G probably damaging Het
Ttn T A 2: 76,576,256 (GRCm39) N24879I probably damaging Het
Ube4a T A 9: 44,864,308 (GRCm39) Q76L probably benign Het
Vmn2r27 T A 6: 124,168,980 (GRCm39) I717F probably damaging Het
Vmn2r45 T C 7: 8,485,987 (GRCm39) K434E possibly damaging Het
Vta1 T C 10: 14,531,461 (GRCm39) T305A probably damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (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
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
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'- CCATGTAGGTCCCAGGTATTG -3'
(R):5'- CCAAACTTGAAGGGGTTCTGG -3'

Sequencing Primer
(F):5'- CATGTAGGTCCCAGGTATTGAATCTG -3'
(R):5'- GTTCTGGTGAACCATAATGAGCCC -3'
Posted On 2019-12-20