Incidental Mutation 'IGL01111:Jmy'
ID52576
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jmy
Ensembl Gene ENSMUSG00000021690
Gene Namejunction-mediating and regulatory protein
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.140) question?
Stock #IGL01111
Quality Score
Status
Chromosome13
Chromosomal Location93430101-93499808 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 93441021 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 880 (R880G)
Ref Sequence ENSEMBL: ENSMUSP00000070339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065537]
Predicted Effect probably damaging
Transcript: ENSMUST00000065537
AA Change: R880G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: R880G

DomainStartEndE-ValueType
Pfam:WHAMM-JMY_N 5 55 6.2e-30 PFAM
low complexity region 77 94 N/A INTRINSIC
low complexity region 117 128 N/A INTRINSIC
low complexity region 152 181 N/A INTRINSIC
low complexity region 202 217 N/A INTRINSIC
Pfam:JMY 220 574 2.2e-175 PFAM
SCOP:d1jvr__ 794 816 4e-3 SMART
WH2 916 933 2.21e-2 SMART
low complexity region 964 975 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik G T 2: 130,736,598 D655E possibly damaging Het
Ammecr1l T A 18: 31,772,070 Y121* probably null Het
Apc C T 18: 34,315,136 T1661I possibly damaging Het
Ccdc13 T C 9: 121,810,084 probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cpt1c T C 7: 44,965,554 H325R possibly damaging Het
Cyp2a22 T C 7: 26,936,458 K227E probably damaging Het
Ddx10 T C 9: 53,159,948 K682E possibly damaging Het
Dlg2 T C 7: 91,449,763 Y123H possibly damaging Het
Dnah11 A T 12: 118,142,934 probably benign Het
Dpysl2 T C 14: 66,834,232 E153G probably damaging Het
Edrf1 T A 7: 133,658,553 Y64* probably null Het
Ephb2 A T 4: 136,657,410 S897T probably benign Het
Flt1 A G 5: 147,578,336 I1092T probably damaging Het
Gabra4 T C 5: 71,633,629 Y290C probably damaging Het
Gm853 T A 4: 130,221,725 D10V probably benign Het
Hectd2 A T 19: 36,597,120 H67L probably damaging Het
Itgb2 T C 10: 77,542,000 L11P probably damaging Het
Klhl2 A G 8: 64,749,047 C532R probably damaging Het
Kpna1 A G 16: 36,012,889 probably benign Het
L3mbtl2 T C 15: 81,684,898 V591A possibly damaging Het
Lepr A T 4: 101,814,655 N959Y possibly damaging Het
Man1a A T 10: 53,977,013 probably benign Het
Mov10 A T 3: 104,801,405 S431T possibly damaging Het
Mx2 A T 16: 97,558,719 Q563L probably benign Het
Nrap A T 19: 56,345,558 Y874N probably damaging Het
Nup160 T C 2: 90,733,209 I1373T probably benign Het
Nwd2 A T 5: 63,807,300 D1409V probably damaging Het
Obsl1 A T 1: 75,497,145 V744E possibly damaging Het
Olfr630 T A 7: 103,755,373 T71S probably benign Het
Pgap1 T C 1: 54,530,943 K315R probably benign Het
Rab8a T C 8: 72,175,856 V114A probably damaging Het
Sh2d6 T C 6: 72,519,829 T73A probably benign Het
Shroom1 A G 11: 53,464,048 E265G probably damaging Het
Slc8b1 G A 5: 120,532,935 V529M probably damaging Het
Srbd1 G T 17: 86,098,533 A613E probably benign Het
Stat1 G A 1: 52,142,961 probably null Het
Tbck A G 3: 132,694,407 H73R probably damaging Het
Thg1l A T 11: 45,948,224 D220E probably damaging Het
Ttn C T 2: 76,778,323 G16037D probably damaging Het
Unc13b A G 4: 43,096,927 E100G possibly damaging Het
Vmn2r81 T A 10: 79,247,997 D68E probably benign Het
Xpo6 T C 7: 126,129,568 T505A probably benign Het
Zfp976 T C 7: 42,616,287 K25E probably damaging Het
Other mutations in Jmy
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00798:Jmy APN 13 93441402 missense probably benign 0.00
IGL00949:Jmy APN 13 93454002 missense probably damaging 1.00
IGL01734:Jmy APN 13 93459651 missense probably damaging 1.00
IGL01926:Jmy APN 13 93459786 missense probably damaging 1.00
IGL01985:Jmy APN 13 93459636 missense possibly damaging 0.58
IGL02183:Jmy APN 13 93499242 missense possibly damaging 0.78
IGL02517:Jmy APN 13 93452808 missense probably benign 0.01
IGL02524:Jmy APN 13 93472760 missense probably damaging 1.00
IGL02697:Jmy APN 13 93459701 nonsense probably null
IGL03024:Jmy APN 13 93499199 missense probably damaging 1.00
R0242:Jmy UTSW 13 93441618 missense probably benign 0.07
R0242:Jmy UTSW 13 93441618 missense probably benign 0.07
R0623:Jmy UTSW 13 93452817 missense probably benign 0.37
R0623:Jmy UTSW 13 93452817 missense probably benign 0.37
R0722:Jmy UTSW 13 93452817 missense probably benign 0.37
R1533:Jmy UTSW 13 93441311 missense probably benign
R1667:Jmy UTSW 13 93498370 missense probably damaging 1.00
R1737:Jmy UTSW 13 93498795 missense probably damaging 0.99
R1815:Jmy UTSW 13 93454077 missense probably damaging 1.00
R2057:Jmy UTSW 13 93459703 missense probably damaging 1.00
R3522:Jmy UTSW 13 93454050 missense probably damaging 1.00
R3765:Jmy UTSW 13 93464711 missense possibly damaging 0.78
R4231:Jmy UTSW 13 93498925 missense probably benign
R4279:Jmy UTSW 13 93498882 missense probably damaging 1.00
R4279:Jmy UTSW 13 93499273 missense probably damaging 1.00
R4330:Jmy UTSW 13 93498882 missense probably damaging 1.00
R4330:Jmy UTSW 13 93499273 missense probably damaging 1.00
R4845:Jmy UTSW 13 93439738 missense possibly damaging 0.80
R5047:Jmy UTSW 13 93441572 missense possibly damaging 0.65
R5403:Jmy UTSW 13 93441396 missense probably benign 0.08
R5941:Jmy UTSW 13 93498825 missense probably benign
R5953:Jmy UTSW 13 93499116 missense possibly damaging 0.62
R6022:Jmy UTSW 13 93453578 splice site probably null
R6150:Jmy UTSW 13 93441133 missense probably benign 0.10
R6520:Jmy UTSW 13 93454039 missense probably benign 0.10
R7073:Jmy UTSW 13 93441333 missense probably benign 0.01
R7074:Jmy UTSW 13 93453931 missense probably benign 0.15
R7325:Jmy UTSW 13 93472743 missense probably damaging 0.99
R7575:Jmy UTSW 13 93464595 nonsense probably null
R7641:Jmy UTSW 13 93442599 missense probably damaging 1.00
R7674:Jmy UTSW 13 93442599 missense probably damaging 1.00
R7862:Jmy UTSW 13 93499195 missense possibly damaging 0.75
R7945:Jmy UTSW 13 93499195 missense possibly damaging 0.75
Z1088:Jmy UTSW 13 93441081 missense probably damaging 1.00
Posted On2013-06-21