Incidental Mutation 'IGL02697:Jmy'
ID303977
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 #IGL02697
Quality Score
Status
Chromosome13
Chromosomal Location93430101-93499808 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 93459701 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 473 (Y473*)
Ref Sequence ENSEMBL: ENSMUSP00000070339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065537] [ENSMUST00000220513]
Predicted Effect probably null
Transcript: ENSMUST00000065537
AA Change: Y473*
SMART Domains Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: Y473*

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
Predicted Effect probably benign
Transcript: ENSMUST00000220513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223458
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 A T 4: 47,471,772 N345K probably damaging Het
Atp13a5 T A 16: 29,348,532 H151L probably benign Het
C2cd3 T C 7: 100,427,169 probably benign Het
Cep57l1 G T 10: 41,722,954 P212T possibly damaging Het
Coch G A 12: 51,597,038 A135T probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cul5 A G 9: 53,655,331 S134P probably benign Het
Cyp4f14 T C 17: 32,905,623 T485A probably damaging Het
Dennd3 T C 15: 73,524,236 F198S possibly damaging Het
Dennd5a C A 7: 109,894,781 A1239S probably damaging Het
Dhx8 T C 11: 101,754,781 I822T probably damaging Het
Dnah5 A T 15: 28,445,143 M4142L probably benign Het
Dyrk4 T A 6: 126,899,008 N88I possibly damaging Het
Emc1 T C 4: 139,352,644 F9L probably benign Het
Gga1 A G 15: 78,885,346 E173G probably damaging Het
H1fnt T C 15: 98,257,169 K33R probably benign Het
Hepacam2 A T 6: 3,476,036 H296Q possibly damaging Het
Ipo9 G T 1: 135,390,576 Q699K probably benign Het
Kdm5b A T 1: 134,588,773 probably benign Het
Kit A G 5: 75,607,259 S101G probably benign Het
Krtap4-9 T A 11: 99,785,748 V165E unknown Het
Lnpep T A 17: 17,553,193 M639L probably benign Het
Lrp10 C T 14: 54,469,697 P664S probably damaging Het
Nrde2 A T 12: 100,131,207 L778H probably damaging Het
Oat A T 7: 132,569,955 probably null Het
Pfkl A T 10: 77,999,918 S219T probably benign Het
Phtf1 C T 3: 103,997,563 A509V probably benign Het
Pigz T A 16: 31,944,759 probably null Het
Pltp T A 2: 164,840,526 Y344F probably benign Het
Ppp6r2 A G 15: 89,256,755 Y107C probably benign Het
Ptprk A G 10: 28,575,618 D1034G possibly damaging Het
Rell1 C T 5: 63,927,011 V221I probably damaging Het
Skint5 A G 4: 113,479,713 F1429S probably benign Het
Slc22a28 T A 19: 8,117,127 T177S probably benign Het
Stxbp5 G T 10: 9,762,956 S1033* probably null Het
Tgs1 A G 4: 3,585,564 D147G probably benign Het
Thumpd3 T A 6: 113,067,295 N423K probably benign Het
Tns3 G T 11: 8,492,346 D672E probably benign Het
Vmn2r61 T A 7: 42,275,468 V482E possibly damaging Het
Vmn2r72 G T 7: 85,738,671 Q562K probably benign Het
Zan T C 5: 137,400,548 T4185A unknown 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
IGL01111:Jmy APN 13 93441021 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
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 On2015-04-16