Incidental Mutation 'R3684:Jchain'
ID 269463
Institutional Source Beutler Lab
Gene Symbol Jchain
Ensembl Gene ENSMUSG00000067149
Gene Name immunoglobulin joining chain
Synonyms J chain, Jch, 9530090F24Rik, Igj
MMRRC Submission 040682-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3684 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 88667663-88675667 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 88670398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 74 (P74S)
Ref Sequence ENSEMBL: ENSMUSP00000084259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087033]
AlphaFold P01592
Predicted Effect probably damaging
Transcript: ENSMUST00000087033
AA Change: P74S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084259
Gene: ENSMUSG00000067149
AA Change: P74S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Ig_J_chain 23 159 6.3e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164073
SMART Domains Protein: ENSMUSP00000132955
Gene: ENSMUSG00000067149

DomainStartEndE-ValueType
Pfam:Ig_J_chain 1 119 1.3e-72 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a null allele show increased IgA level and alterations in IgA transport and in susceptibility to viral and parasitic infections. Homozygotes for another null allele show increased IgA level, decreased IgM level, reduced numbers of IgM plasma cells, and impaired IgM immune responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 C T 14: 68,819,447 (GRCm39) V17I probably benign Het
Ahdc1 T C 4: 132,793,013 (GRCm39) L1418P possibly damaging Het
Atr T C 9: 95,802,453 (GRCm39) S1782P probably damaging Het
Btbd9 T A 17: 30,553,281 (GRCm39) N394Y probably damaging Het
Calb2 A G 8: 110,883,620 (GRCm39) Y35H probably benign Het
Cdon A G 9: 35,400,328 (GRCm39) E1014G possibly damaging Het
Cep83 A G 10: 94,622,687 (GRCm39) T588A probably benign Het
Cfap126 T C 1: 170,941,600 (GRCm39) S32P possibly damaging Het
Clcn7 T C 17: 25,369,567 (GRCm39) L301P possibly damaging Het
Corin T C 5: 72,488,198 (GRCm39) D610G probably damaging Het
Dok3 A G 13: 55,672,306 (GRCm39) S154P probably damaging Het
Ggta1 T A 2: 35,298,000 (GRCm39) T162S probably benign Het
Gldn G A 9: 54,245,624 (GRCm39) E392K possibly damaging Het
Gls A T 1: 52,205,452 (GRCm39) D447E probably damaging Het
Itih5 A T 2: 10,243,435 (GRCm39) N391Y possibly damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lrrn1 T C 6: 107,544,910 (GRCm39) V236A probably benign Het
Mcm3ap T C 10: 76,325,260 (GRCm39) S954P possibly damaging Het
Myh11 T C 16: 14,021,098 (GRCm39) N1725S probably benign Het
Ppcdc C T 9: 57,328,408 (GRCm39) probably null Het
Rhobtb3 A G 13: 76,087,600 (GRCm39) I129T probably damaging Het
Sfxn2 A G 19: 46,579,592 (GRCm39) R252G probably benign Het
Sh2d2a C A 3: 87,759,027 (GRCm39) probably null Het
Sh3gl1 T C 17: 56,325,953 (GRCm39) K159E possibly damaging Het
Slc7a9 A G 7: 35,152,926 (GRCm39) T115A probably benign Het
Spmap1 A T 11: 97,666,525 (GRCm39) Y54N probably damaging Het
Synj2 A T 17: 6,078,718 (GRCm39) D1020V probably damaging Het
Tenm2 C A 11: 35,942,644 (GRCm39) V1342L probably benign Het
Tmem127 T A 2: 127,090,652 (GRCm39) I56N possibly damaging Het
Traj7 A G 14: 54,448,938 (GRCm39) probably benign Het
Unc5d A G 8: 29,184,620 (GRCm39) F627L probably damaging Het
Unc79 T A 12: 103,041,062 (GRCm39) N698K probably benign Het
Usp17la A T 7: 104,510,937 (GRCm39) N514I possibly damaging Het
Uvrag A T 7: 98,637,427 (GRCm39) C341S probably damaging Het
Zfp810 T C 9: 22,189,531 (GRCm39) D459G probably benign Het
Other mutations in Jchain
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Jchain APN 5 88,669,383 (GRCm39) missense probably damaging 1.00
R0403:Jchain UTSW 5 88,669,237 (GRCm39) missense probably benign 0.01
R0718:Jchain UTSW 5 88,674,061 (GRCm39) missense probably benign 0.00
R1470:Jchain UTSW 5 88,673,979 (GRCm39) missense probably benign 0.21
R1470:Jchain UTSW 5 88,673,979 (GRCm39) missense probably benign 0.21
R1987:Jchain UTSW 5 88,669,326 (GRCm39) missense probably damaging 0.99
R5010:Jchain UTSW 5 88,670,364 (GRCm39) missense probably damaging 0.98
R5785:Jchain UTSW 5 88,670,376 (GRCm39) missense probably benign 0.13
R6076:Jchain UTSW 5 88,675,631 (GRCm39) missense probably benign
R6250:Jchain UTSW 5 88,674,034 (GRCm39) missense probably benign 0.00
R6275:Jchain UTSW 5 88,669,212 (GRCm39) missense probably damaging 1.00
R9066:Jchain UTSW 5 88,675,638 (GRCm39) start codon destroyed probably benign 0.22
R9576:Jchain UTSW 5 88,673,976 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTAGTCATTAGCCTAAGAATTGGTG -3'
(R):5'- ACCAACTAGTGTGTAGACAAGAAACTG -3'

Sequencing Primer
(F):5'- TCATTAGCCTAAGAATTGGTGTATTC -3'
(R):5'- GAGTAAGGTGATGATGAGTACT -3'
Posted On 2015-02-19