Incidental Mutation 'IGL01661:Josd1'
ID 103161
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Josd1
Ensembl Gene ENSMUSG00000022426
Gene Name Josephin domain containing 1
Synonyms 1300006C06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01661
Quality Score
Status
Chromosome 15
Chromosomal Location 79558451-79572073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79561328 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9DBJ6
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: 25,333,007 (GRCm39) F1569L probably benign Het
Acly A G 11: 100,405,168 (GRCm39) probably benign Het
Adgre5 T A 8: 84,454,564 (GRCm39) N313I probably damaging Het
Ccdc17 A G 4: 116,455,063 (GRCm39) H206R probably benign Het
Cenpo C T 12: 4,284,023 (GRCm39) probably null Het
Galnt5 G T 2: 57,889,494 (GRCm39) A365S probably benign Het
Lamc1 C A 1: 153,097,319 (GRCm39) R1575L possibly damaging Het
Mrpl32 C T 13: 14,785,178 (GRCm39) V153I probably benign Het
Mtor A G 4: 148,599,308 (GRCm39) K1452R possibly damaging Het
Nob1 T C 8: 108,139,814 (GRCm39) Y315C probably damaging Het
Or4c58 T A 2: 89,674,439 (GRCm39) M293L probably benign Het
Or8k28 T C 2: 86,285,846 (GRCm39) I256M possibly damaging Het
Prex2 A G 1: 11,278,838 (GRCm39) N1389S probably benign Het
Ptprd G A 4: 75,872,320 (GRCm39) T1383M probably damaging Het
Ralbp1 A G 17: 66,168,384 (GRCm39) L307P probably damaging Het
Sema4f A G 6: 82,895,036 (GRCm39) probably benign Het
Slc2a3 A G 6: 122,706,915 (GRCm39) V486A probably benign Het
Spock2 T A 10: 59,959,692 (GRCm39) H140Q probably damaging Het
Tmc4 A G 7: 3,669,926 (GRCm39) I610T probably damaging Het
Tnc T C 4: 63,888,544 (GRCm39) probably benign Het
Ttll8 T C 15: 88,820,202 (GRCm39) probably benign Het
Other mutations in Josd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6768:Josd1 UTSW 15 79,561,323 (GRCm39) missense probably benign 0.05
R7894:Josd1 UTSW 15 79,561,451 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21