Incidental Mutation 'R6768:Josd1'
ID 532060
Institutional Source Beutler Lab
Gene Symbol Josd1
Ensembl Gene ENSMUSG00000022426
Gene Name Josephin domain containing 1
Synonyms 1300006C06Rik
MMRRC Submission 044884-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6768 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 79558451-79572073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79561323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 162 (W162R)
Ref Sequence ENSEMBL: ENSMUSP00000023061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023061] [ENSMUST00000023062] [ENSMUST00000127292] [ENSMUST00000229502]
AlphaFold Q9DBJ6
Predicted Effect probably benign
Transcript: ENSMUST00000023061
AA Change: W162R

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000023061
Gene: ENSMUSG00000022426
AA Change: W162R

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 noncoding transcript
Transcript: ENSMUST00000127292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229502
Meta Mutation Damage Score 0.0702 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 97.2%
Validation Efficiency 96% (45/47)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b G A 12: 113,453,863 (GRCm39) V227I probably benign Het
Agtrap A G 4: 148,166,067 (GRCm39) V106A probably benign Het
Aldh3a2 A C 11: 61,144,536 (GRCm39) S341A probably benign Het
Bmper T A 9: 23,292,749 (GRCm39) C353S probably damaging Het
Casq1 C T 1: 172,047,245 (GRCm39) D5N probably benign Het
Ccin G A 4: 43,984,574 (GRCm39) R327H probably benign Het
Chuk A G 19: 44,085,390 (GRCm39) V252A probably damaging Het
Colec11 T C 12: 28,645,100 (GRCm39) probably null Het
Cpeb3 G A 19: 37,002,432 (GRCm39) T643I possibly damaging Het
Cstpp1 A T 2: 91,252,303 (GRCm39) H19Q probably damaging Het
Ctcfl A G 2: 172,959,084 (GRCm39) V214A possibly damaging Het
Dst A G 1: 34,220,793 (GRCm39) E2199G probably damaging Het
Eno2 T C 6: 124,744,711 (GRCm39) E45G probably damaging Het
Foxa2 T C 2: 147,885,747 (GRCm39) H181R probably damaging Het
Fpgs A G 2: 32,576,635 (GRCm39) S331P probably benign Het
Gm47189 A G 14: 41,492,035 (GRCm39) S81P probably benign Het
Igsf8 C A 1: 172,145,099 (GRCm39) P142Q probably damaging Het
Islr G T 9: 58,064,893 (GRCm39) Q205K possibly damaging Het
Lrrc37a G A 11: 103,390,949 (GRCm39) T1492I probably benign Het
Meox1 A G 11: 101,770,161 (GRCm39) F189L probably damaging Het
Mtf1 G A 4: 124,731,578 (GRCm39) D385N probably benign Het
Naip2 A T 13: 100,314,832 (GRCm39) C315* probably null Het
Ncaph2 T A 15: 89,248,202 (GRCm39) Y166* probably null Het
Nr1i3 G A 1: 171,044,966 (GRCm39) V270M probably damaging Het
Or11h4b A G 14: 50,919,049 (GRCm39) L14S probably damaging Het
Or13c7 T C 4: 43,854,351 (GRCm39) I14T probably benign Het
Panx3 T C 9: 37,575,322 (GRCm39) K180R probably benign Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Reln A C 5: 22,183,905 (GRCm39) V1698G probably damaging Het
Rnf213 G T 11: 119,333,062 (GRCm39) R2757L probably damaging Het
Scgb2b26 G T 7: 33,644,379 (GRCm39) T4K probably damaging Het
Sdhb A G 4: 140,706,364 (GRCm39) E267G probably damaging Het
Sorbs1 A T 19: 40,315,991 (GRCm39) N383K probably damaging Het
Stk11ip T A 1: 75,509,279 (GRCm39) C766S probably benign Het
Taf6l A C 19: 8,751,913 (GRCm39) S592A probably damaging Het
Tmem145 G A 7: 25,008,061 (GRCm39) G235D probably damaging Het
Tuba3b T A 6: 145,564,455 (GRCm39) probably null Het
Ubl7 A T 9: 57,820,045 (GRCm39) E32D probably benign Het
Vmn1r168 A T 7: 23,240,460 (GRCm39) T106S probably damaging Het
Vmn2r59 C A 7: 41,661,392 (GRCm39) V808F probably benign Het
Vmn2r61 C T 7: 41,949,748 (GRCm39) P723S probably damaging Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Zfp11 G T 5: 129,735,415 (GRCm39) D15E probably benign Het
Zfp428 G A 7: 24,214,908 (GRCm39) G162R probably damaging Het
Zfp629 G A 7: 127,209,997 (GRCm39) T604I probably benign Het
Zfpm1 C A 8: 123,061,195 (GRCm39) D253E probably damaging Het
Zhx1 G T 15: 57,917,499 (GRCm39) T249K probably benign Het
Other mutations in Josd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01661:Josd1 APN 15 79,561,328 (GRCm39) missense probably damaging 1.00
R7894:Josd1 UTSW 15 79,561,451 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGACATTGTCAGTCCCACC -3'
(R):5'- TTCTCTTCTGCAGGGACGTG -3'

Sequencing Primer
(F):5'- GGGATGGAGTCCTAATTAAGTCC -3'
(R):5'- ACGTGGGTGTCATTGCTCTTAC -3'
Posted On 2018-08-29