Incidental Mutation 'IGL01926:Jmy'
ID180314
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: 0.127) question?
Stock #IGL01926
Quality Score
Status
Chromosome13
Chromosomal Location93430101-93499808 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 93459786 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 445 (V445E)
Ref Sequence ENSEMBL: ENSMUSP00000070339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065537] [ENSMUST00000220513]
Predicted Effect probably damaging
Transcript: ENSMUST00000065537
AA Change: V445E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: V445E

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,135,329 probably benign Het
Ano1 C T 7: 144,610,875 V671M possibly damaging Het
Atf7ip2 G T 16: 10,241,885 D430Y probably damaging Het
Atp7b A T 8: 22,011,781 D740E probably damaging Het
Bbs1 A C 19: 4,902,863 S191A probably benign Het
Capn5 C T 7: 98,128,472 probably null Het
Cyp2c40 A G 19: 39,802,655 I244T probably benign Het
Dsg1a G T 18: 20,333,584 D504Y possibly damaging Het
Eif3a T C 19: 60,769,961 D793G unknown Het
Exoc4 C A 6: 33,862,142 D704E probably damaging Het
Fmo5 A C 3: 97,637,481 T109P probably damaging Het
Ggt5 A G 10: 75,604,101 I179V probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Irs1 G T 1: 82,289,959 R179S probably damaging Het
Jup C A 11: 100,383,586 V93F probably benign Het
Krt20 T C 11: 99,437,826 Y91C probably damaging Het
Mug2 T A 6: 122,036,104 probably benign Het
Mybpc3 C T 2: 91,135,407 T1188I possibly damaging Het
Myt1 T C 2: 181,821,997 L1032P probably benign Het
Naip6 A T 13: 100,300,196 N606K probably damaging Het
Nfrkb A T 9: 31,414,179 M973L probably benign Het
Olfr1109 C T 2: 87,092,974 C141Y probably damaging Het
Olfr1477 A T 19: 13,502,741 T133S possibly damaging Het
Parp8 T C 13: 116,862,302 probably benign Het
Plekha5 T A 6: 140,525,916 M131K probably benign Het
Pomt1 T A 2: 32,243,472 S207T probably benign Het
Prlr T A 15: 10,314,220 M1K probably null Het
Prr15 A G 6: 54,329,505 K83E probably damaging Het
Rnf4 A G 5: 34,346,779 N5S probably benign Het
Sel1l3 T A 5: 53,200,143 H169L probably benign Het
Slc24a5 A G 2: 125,068,903 I85V probably benign Het
Tmc2 T C 2: 130,260,240 I775T possibly damaging Het
Trnau1ap A T 4: 132,319,562 F141L probably benign Het
Zscan4d A G 7: 11,164,994 C119R probably damaging Het
Zswim9 A T 7: 13,260,321 V636D possibly 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
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 On2014-05-07