Incidental Mutation 'R5785:Jchain'
ID 447954
Institutional Source Beutler Lab
Gene Symbol Jchain
Ensembl Gene ENSMUSG00000067149
Gene Name immunoglobulin joining chain
Synonyms J chain, Jch, 9530090F24Rik, Igj
MMRRC Submission 043206-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5785 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 88667663-88675667 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88670376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 81 (N81S)
Ref Sequence ENSEMBL: ENSMUSP00000084259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087033]
AlphaFold P01592
Predicted Effect probably benign
Transcript: ENSMUST00000087033
AA Change: N81S

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000084259
Gene: ENSMUSG00000067149
AA Change: N81S

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt A T 9: 99,502,725 (GRCm39) N295I probably damaging Het
Abcg3 G A 5: 105,116,036 (GRCm39) A266V probably damaging Het
Apbb1 C A 7: 105,216,922 (GRCm39) D254Y probably damaging Het
Arhgap39 T C 15: 76,621,618 (GRCm39) M328V probably benign Het
Bub1b T A 2: 118,440,325 (GRCm39) V143D probably damaging Het
Celsr3 A G 9: 108,704,996 (GRCm39) D493G probably damaging Het
Cers4 T A 8: 4,566,992 (GRCm39) probably null Het
Clec4d A G 6: 123,251,729 (GRCm39) R204G probably benign Het
Cngb1 C A 8: 95,980,823 (GRCm39) R910L possibly damaging Het
Coro2a A T 4: 46,564,691 (GRCm39) N18K probably benign Het
Cwf19l1 A G 19: 44,110,380 (GRCm39) F290S probably damaging Het
Esp18 C T 17: 39,720,839 (GRCm39) T28I probably damaging Het
Hdac10 A T 15: 89,011,148 (GRCm39) F205Y probably benign Het
Hhip T A 8: 80,724,821 (GRCm39) H317L possibly damaging Het
Il36b G A 2: 24,044,661 (GRCm39) M20I probably benign Het
Ilf3 T A 9: 21,306,168 (GRCm39) N276K probably damaging Het
Mei4 A G 9: 81,907,600 (GRCm39) Y211C probably damaging Het
Mx2 A T 16: 97,339,904 (GRCm39) E20V possibly damaging Het
Ndufa10 A G 1: 92,388,096 (GRCm39) probably null Het
Nodal A G 10: 61,259,456 (GRCm39) T298A probably damaging Het
Nvl T C 1: 180,966,863 (GRCm39) Y47C probably damaging Het
Onecut1 C T 9: 74,770,674 (GRCm39) R366C probably damaging Het
Or9q1 T C 19: 13,804,983 (GRCm39) Y259C probably damaging Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Ppp5c A G 7: 16,761,616 (GRCm39) probably null Het
Prag1 A G 8: 36,570,641 (GRCm39) E408G probably benign Het
Ptpn21 T C 12: 98,648,809 (GRCm39) N949S probably damaging Het
Scn7a A C 2: 66,527,912 (GRCm39) N859K possibly damaging Het
Smarca4 T C 9: 21,597,322 (GRCm39) I1362T probably damaging Het
Syt12 T C 19: 4,501,022 (GRCm39) R343G possibly damaging Het
Topbp1 T C 9: 103,200,727 (GRCm39) S587P probably benign Het
Trim80 C T 11: 115,337,301 (GRCm39) Q388* probably null Het
Tsc2 T C 17: 24,818,861 (GRCm39) probably null Het
Vmn2r130 T A 17: 23,280,461 (GRCm39) S41T probably benign Het
Vmn2r3 T A 3: 64,166,444 (GRCm39) T896S possibly damaging Het
Xirp2 A G 2: 67,340,006 (GRCm39) E749G probably damaging Het
Zbtb24 G A 10: 41,327,849 (GRCm39) G245E probably benign Het
Zfp507 A G 7: 35,487,167 (GRCm39) V767A 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
R3684:Jchain UTSW 5 88,670,398 (GRCm39) missense probably damaging 1.00
R5010:Jchain UTSW 5 88,670,364 (GRCm39) missense probably damaging 0.98
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'- TAGCCTGAGAAACCAACTAGTGTG -3'

Sequencing Primer
(F):5'- TCATTAGCCTAAGAATTGGTGTATTC -3'
(R):5'- CCTGAGAAACCAACTAGTGTGTAGAC -3'
Posted On 2016-12-15