Incidental Mutation 'IGL00798:Jmy'
ID 11532
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jmy
Ensembl Gene ENSMUSG00000021690
Gene Name junction-mediating and regulatory protein
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # IGL00798
Quality Score
Status
Chromosome 13
Chromosomal Location 93566609-93636316 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93577910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 753 (S753P)
Ref Sequence ENSEMBL: ENSMUSP00000070339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065537]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000065537
AA Change: S753P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: S753P

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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,647,969 (GRCm39) F1154I probably damaging Het
Atxn2 A G 5: 121,933,298 (GRCm39) K565E possibly damaging Het
Brca2 T G 5: 150,462,928 (GRCm39) S897R probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Gabrg1 G A 5: 70,939,626 (GRCm39) R164W probably damaging Het
Iigp1 T C 18: 60,524,073 (GRCm39) M397T probably benign Het
Myo5b A G 18: 74,787,147 (GRCm39) probably benign Het
Nr3c1 C T 18: 39,619,924 (GRCm39) G121D probably damaging Het
Nup98 A G 7: 101,796,411 (GRCm39) F875S probably damaging Het
Plk2 T C 13: 110,534,568 (GRCm39) S354P probably benign Het
Prkci T C 3: 31,088,648 (GRCm39) V179A probably benign Het
Slc12a1 T C 2: 125,030,114 (GRCm39) I562T probably damaging Het
Zfp735 T A 11: 73,602,386 (GRCm39) N443K possibly damaging Het
Other mutations in Jmy
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Jmy APN 13 93,590,510 (GRCm39) missense probably damaging 1.00
IGL01111:Jmy APN 13 93,577,529 (GRCm39) missense probably damaging 1.00
IGL01734:Jmy APN 13 93,596,159 (GRCm39) missense probably damaging 1.00
IGL01926:Jmy APN 13 93,596,294 (GRCm39) missense probably damaging 1.00
IGL01985:Jmy APN 13 93,596,144 (GRCm39) missense possibly damaging 0.58
IGL02183:Jmy APN 13 93,635,750 (GRCm39) missense possibly damaging 0.78
IGL02517:Jmy APN 13 93,589,316 (GRCm39) missense probably benign 0.01
IGL02524:Jmy APN 13 93,609,268 (GRCm39) missense probably damaging 1.00
IGL02697:Jmy APN 13 93,596,209 (GRCm39) nonsense probably null
IGL03024:Jmy APN 13 93,635,707 (GRCm39) missense probably damaging 1.00
R0242:Jmy UTSW 13 93,578,126 (GRCm39) missense probably benign 0.07
R0242:Jmy UTSW 13 93,578,126 (GRCm39) missense probably benign 0.07
R0623:Jmy UTSW 13 93,589,325 (GRCm39) missense probably benign 0.37
R0623:Jmy UTSW 13 93,589,325 (GRCm39) missense probably benign 0.37
R0722:Jmy UTSW 13 93,589,325 (GRCm39) missense probably benign 0.37
R1533:Jmy UTSW 13 93,577,819 (GRCm39) missense probably benign
R1667:Jmy UTSW 13 93,634,878 (GRCm39) missense probably damaging 1.00
R1737:Jmy UTSW 13 93,635,303 (GRCm39) missense probably damaging 0.99
R1815:Jmy UTSW 13 93,590,585 (GRCm39) missense probably damaging 1.00
R2057:Jmy UTSW 13 93,596,211 (GRCm39) missense probably damaging 1.00
R3522:Jmy UTSW 13 93,590,558 (GRCm39) missense probably damaging 1.00
R3765:Jmy UTSW 13 93,601,219 (GRCm39) missense possibly damaging 0.78
R4231:Jmy UTSW 13 93,635,433 (GRCm39) missense probably benign
R4279:Jmy UTSW 13 93,635,781 (GRCm39) missense probably damaging 1.00
R4279:Jmy UTSW 13 93,635,390 (GRCm39) missense probably damaging 1.00
R4330:Jmy UTSW 13 93,635,781 (GRCm39) missense probably damaging 1.00
R4330:Jmy UTSW 13 93,635,390 (GRCm39) missense probably damaging 1.00
R4845:Jmy UTSW 13 93,576,246 (GRCm39) missense possibly damaging 0.80
R5047:Jmy UTSW 13 93,578,080 (GRCm39) missense possibly damaging 0.65
R5403:Jmy UTSW 13 93,577,904 (GRCm39) missense probably benign 0.08
R5941:Jmy UTSW 13 93,635,333 (GRCm39) missense probably benign
R5953:Jmy UTSW 13 93,635,624 (GRCm39) missense possibly damaging 0.62
R6022:Jmy UTSW 13 93,590,086 (GRCm39) splice site probably null
R6150:Jmy UTSW 13 93,577,641 (GRCm39) missense probably benign 0.10
R6520:Jmy UTSW 13 93,590,547 (GRCm39) missense probably benign 0.10
R7073:Jmy UTSW 13 93,577,841 (GRCm39) missense probably benign 0.01
R7074:Jmy UTSW 13 93,590,439 (GRCm39) missense probably benign 0.15
R7325:Jmy UTSW 13 93,609,251 (GRCm39) missense probably damaging 0.99
R7575:Jmy UTSW 13 93,601,103 (GRCm39) nonsense probably null
R7641:Jmy UTSW 13 93,579,107 (GRCm39) missense probably damaging 1.00
R7674:Jmy UTSW 13 93,579,107 (GRCm39) missense probably damaging 1.00
R7862:Jmy UTSW 13 93,635,703 (GRCm39) missense possibly damaging 0.75
R8278:Jmy UTSW 13 93,601,224 (GRCm39) missense probably damaging 1.00
R8416:Jmy UTSW 13 93,634,949 (GRCm39) missense probably damaging 1.00
R8987:Jmy UTSW 13 93,589,397 (GRCm39) missense probably damaging 1.00
R9063:Jmy UTSW 13 93,635,580 (GRCm39) missense probably benign 0.22
R9196:Jmy UTSW 13 93,601,209 (GRCm39) missense probably damaging 1.00
R9255:Jmy UTSW 13 93,589,894 (GRCm39) critical splice donor site probably null
R9402:Jmy UTSW 13 93,635,678 (GRCm39) missense probably damaging 0.99
Z1088:Jmy UTSW 13 93,577,589 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06