Incidental Mutation 'IGL01985:Jmy'
ID181870
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: 0.183) question?
Stock #IGL01985
Quality Score
Status
Chromosome13
Chromosomal Location93430101-93499808 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 93459636 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 495 (H495R)
Ref Sequence ENSEMBL: ENSMUSP00000070339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065537] [ENSMUST00000220513]
Predicted Effect possibly damaging
Transcript: ENSMUST00000065537
AA Change: H495R

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: H495R

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cass4 A C 2: 172,427,206 S403R probably damaging Het
Ccdc175 A T 12: 72,128,278 Y540* probably null Het
Cep164 C T 9: 45,779,606 E1266K probably damaging Het
Clec12b T A 6: 129,382,371 probably benign Het
Col6a5 T C 9: 105,937,283 K510R unknown Het
Crisp4 G A 1: 18,134,065 P101S probably damaging Het
Dapk1 T C 13: 60,736,260 L614P probably damaging Het
Dip2c T C 13: 9,553,267 probably benign Het
Dock7 A G 4: 99,023,377 F589L probably benign Het
Dvl2 T A 11: 70,008,293 V459E probably damaging Het
E2f6 T C 12: 16,819,063 probably null Het
Exph5 T C 9: 53,376,569 L1650P probably damaging Het
Farp2 A G 1: 93,607,602 Y691C probably damaging Het
Fshb T C 2: 107,058,828 T44A probably benign Het
Gm13178 G A 4: 144,715,454 Q76* probably null Het
Gm28044 T A 13: 67,347,894 K28* probably null Het
Il12b G A 11: 44,408,054 W112* probably null Het
Ino80 T C 2: 119,433,321 T621A probably damaging Het
Irx5 T A 8: 92,359,527 probably benign Het
Kif21a A T 15: 90,991,767 V321D probably damaging Het
Lrrc10 T A 10: 117,046,016 D198E probably damaging Het
Lrsam1 T C 2: 32,928,091 E651G probably benign Het
Marc1 A G 1: 184,787,734 V230A probably damaging Het
Mylk4 T A 13: 32,717,581 I475L possibly damaging Het
Myom3 G A 4: 135,765,702 probably null Het
Olfr201 A T 16: 59,269,079 V196E probably benign Het
Pah G A 10: 87,578,982 V399M probably damaging Het
Pik3r4 G A 9: 105,663,045 E711K probably benign Het
Rbbp6 A G 7: 122,971,073 K38E probably damaging Het
Ror1 G A 4: 100,425,964 V409M possibly damaging Het
Slc6a11 T A 6: 114,134,892 V140D probably benign Het
Srebf2 G T 15: 82,192,359 A737S probably benign Het
Tcerg1 A G 18: 42,530,656 T303A unknown Het
Tmem74 A T 15: 43,867,080 I189N probably damaging Het
Tnr A G 1: 159,919,037 D1242G possibly damaging Het
U2surp A T 9: 95,490,226 F293L probably damaging Het
Uchl5 G A 1: 143,786,126 probably benign Het
Usp34 T A 11: 23,452,565 C2472S probably damaging Het
Usp42 G A 5: 143,715,185 R1028W probably damaging Het
Vmn2r10 A G 5: 109,006,259 S60P probably benign Het
Vmn2r31 G T 7: 7,394,511 D249E probably benign Het
Vnn1 C T 10: 23,900,744 T331I probably benign Het
Zmym6 G T 4: 127,100,748 V232F 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
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
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 On2014-05-07