Incidental Mutation 'IGL01661:Josd1'
ID103161
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Josd1
Ensembl Gene ENSMUSG00000022426
Gene NameJosephin domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.435) question?
Stock #IGL01661
Quality Score
Status
Chromosome15
Chromosomal Location79674251-79687919 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 79677127 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 160 (P160L)
Ref Sequence ENSEMBL: ENSMUSP00000023061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023061] [ENSMUST00000023062] [ENSMUST00000127292] [ENSMUST00000229502]
Predicted Effect probably damaging
Transcript: ENSMUST00000023061
AA Change: P160L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023061
Gene: ENSMUSG00000022426
AA Change: P160L

DomainStartEndE-ValueType
Josephin 30 190 2.4e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000023062
SMART Domains Protein: ENSMUSP00000023062
Gene: ENSMUSG00000022427

DomainStartEndE-ValueType
Pfam:Tom22 9 121 1.8e-16 PFAM
low complexity region 126 140 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127292
Predicted Effect probably benign
Transcript: ENSMUST00000229502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230256
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,442,995 F1569L probably benign Het
Acly A G 11: 100,514,342 probably benign Het
Adgre5 T A 8: 83,727,935 N313I probably damaging Het
Ccdc17 A G 4: 116,597,866 H206R probably benign Het
Cenpo C T 12: 4,234,023 probably null Het
Galnt5 G T 2: 57,999,482 A365S probably benign Het
Lamc1 C A 1: 153,221,573 R1575L possibly damaging Het
Mrpl32 C T 13: 14,610,593 V153I probably benign Het
Mtor A G 4: 148,514,851 K1452R possibly damaging Het
Nob1 T C 8: 107,413,182 Y315C probably damaging Het
Olfr1066 T C 2: 86,455,502 I256M possibly damaging Het
Olfr48 T A 2: 89,844,095 M293L probably benign Het
Prex2 A G 1: 11,208,614 N1389S probably benign Het
Ptprd G A 4: 75,954,083 T1383M probably damaging Het
Ralbp1 A G 17: 65,861,389 L307P probably damaging Het
Sema4f A G 6: 82,918,055 probably benign Het
Slc2a3 A G 6: 122,729,956 V486A probably benign Het
Spock2 T A 10: 60,123,870 H140Q probably damaging Het
Tmc4 A G 7: 3,666,927 I610T probably damaging Het
Tnc T C 4: 63,970,307 probably benign Het
Ttll8 T C 15: 88,935,999 probably benign Het
Other mutations in Josd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6768:Josd1 UTSW 15 79677122 missense probably benign 0.05
R7894:Josd1 UTSW 15 79677250 missense probably damaging 1.00
R7977:Josd1 UTSW 15 79677250 missense probably damaging 1.00
Posted On2014-01-21