Incidental Mutation 'IGL02524:Jmy'
ID296999
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 #IGL02524
Quality Score
Status
Chromosome13
Chromosomal Location93430101-93499808 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93472760 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 347 (V347A)
Ref Sequence ENSEMBL: ENSMUSP00000152402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065537] [ENSMUST00000220513]
Predicted Effect possibly damaging
Transcript: ENSMUST00000065537
AA Change: V347A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: V347A

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 damaging
Transcript: ENSMUST00000220513
AA Change: V347A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930415O20Rik G A 15: 98,571,125 probably null Het
Abca8a A G 11: 110,078,815 probably benign Het
Acvr1 T C 2: 58,448,307 probably benign Het
Asap3 A T 4: 136,238,616 T453S probably damaging Het
Ccdc110 C T 8: 45,941,942 P290L probably benign Het
Ccdc127 A G 13: 74,352,897 N11S probably damaging Het
Cd80 T C 16: 38,482,683 V164A probably benign Het
Ctnna3 T C 10: 64,260,826 I381T possibly damaging Het
Epha7 A T 4: 28,821,494 T220S possibly damaging Het
Etnppl A G 3: 130,630,671 probably benign Het
Far2 T A 6: 148,150,658 L145Q probably damaging Het
Fdxr A G 11: 115,271,260 probably null Het
Kcns2 A G 15: 34,838,835 I115V probably benign Het
Kif2a A G 13: 106,964,355 L627S possibly damaging Het
Krtap26-1 A G 16: 88,647,479 S85P possibly damaging Het
Ldlr C A 9: 21,733,681 D168E probably damaging Het
Lrrc8e T G 8: 4,235,392 L539R probably damaging Het
Mmp8 A G 9: 7,560,505 E61G probably damaging Het
Msh2 T C 17: 87,678,357 F121L probably benign Het
Myh4 A G 11: 67,249,240 K638E possibly damaging Het
Ndufaf6 A G 4: 11,059,091 F246S probably benign Het
Nynrin C T 14: 55,871,474 A1346V possibly damaging Het
Olfr1055 A C 2: 86,347,342 C141W probably damaging Het
P2rx1 C T 11: 73,009,648 P196L probably damaging Het
Pbx3 T C 2: 34,370,818 probably benign Het
Psen2 A T 1: 180,245,667 S30T probably benign Het
Rack1 T C 11: 48,803,471 V166A probably benign Het
Rpgrip1 A G 14: 52,121,054 T206A probably benign Het
Rrp7a A G 15: 83,118,178 probably benign Het
Slco1b2 C T 6: 141,671,072 T377I probably benign Het
Sult2a6 A T 7: 14,236,686 S162T possibly damaging Het
Syt2 A G 1: 134,741,965 K115E probably benign Het
Tet1 A G 10: 62,878,646 S457P probably damaging Het
Trbv3 A G 6: 41,048,665 E63G possibly damaging Het
Unc13d T C 11: 116,070,319 Y404C probably damaging Het
Usp32 G A 11: 85,010,011 R1128* probably null Het
Vps4a G A 8: 107,036,751 probably benign Het
Ythdc2 T A 18: 44,847,854 H505Q probably damaging Het
Ywhab T A 2: 164,016,137 L208Q probably damaging Het
Zfyve16 T C 13: 92,504,514 K1241E probably benign 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
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 On2015-04-16