Mutagenetix > Incidental Mutation

Incidental Mutation 'R9066:Jchain'

689257

Institutional Source

Beutler Lab

Gene Symbol

Jchain

Ensembl Gene

ENSMUSG00000067149

Gene Name

immunoglobulin joining chain

Synonyms

J chain, Jch, 9530090F24Rik, Igj

MMRRC Submission

068891-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9066 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88667663-88675667 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to G at 88675638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000084259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087033]

AlphaFold

P01592

Predicted Effect

probably benign
Transcript: ENSMUST00000087033
AA Change: M1L

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000084259
Gene: ENSMUSG00000067149
AA Change: M1L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Ig_J_chain	23	159	6.3e-77	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (46/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,849,188 (GRCm39)	T1858A	probably damaging	Het
Atp1a1	A	G	3: 101,489,338 (GRCm39)	I758T	probably damaging	Het
Atp2c1	T	C	9: 105,330,845 (GRCm39)	E225G	probably damaging	Het
Clec7a	A	C	6: 129,444,491 (GRCm39)	S115A	probably benign	Het
Cnbd1	T	C	4: 19,098,181 (GRCm39)	T80A	probably benign	Het
Ctu1	A	G	7: 43,326,019 (GRCm39)	H226R	possibly damaging	Het
Dctn4	T	C	18: 60,659,387 (GRCm39)	F29L	probably damaging	Het
Dnajb2	A	G	1: 75,217,874 (GRCm39)	T169A		Het
Efcab3	T	A	11: 104,631,688 (GRCm39)		probably benign	Het
Esf1	A	T	2: 139,990,693 (GRCm39)	M597K	probably benign	Het
Fzd7	C	T	1: 59,521,991 (GRCm39)		probably benign	Het
Gapvd1	C	A	2: 34,617,297 (GRCm39)	Q349H	probably damaging	Het
Garin5b	T	C	7: 4,773,518 (GRCm39)		probably benign	Het
Gata5	A	G	2: 179,968,761 (GRCm39)	F371S		Het
Gm572	A	T	4: 148,751,278 (GRCm39)	Q217L	possibly damaging	Het
Igkv14-130	T	A	6: 67,768,219 (GRCm39)	M26K	probably damaging	Het
Kcnj14	G	A	7: 45,469,073 (GRCm39)	T144M	probably damaging	Het
Kirrel2	C	A	7: 30,153,454 (GRCm39)	A302S	probably damaging	Het
Klhl29	C	T	12: 5,260,114 (GRCm39)	V35I	probably benign	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lgi4	A	C	7: 30,759,446 (GRCm39)	M1L	probably benign	Het
Ncr1	A	G	7: 4,347,552 (GRCm39)	D276G	probably benign	Het
Nfatc3	T	A	8: 106,825,782 (GRCm39)	M619K	probably benign	Het
Nudcd1	A	T	15: 44,243,588 (GRCm39)	F441I	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or10a3n	A	T	7: 108,493,253 (GRCm39)	Y125*	probably null	Het
Or8b12	T	G	9: 37,657,871 (GRCm39)	V147G	possibly damaging	Het
Pop1	A	T	15: 34,516,060 (GRCm39)	Q586L	possibly damaging	Het
Prss3b	C	T	6: 41,008,640 (GRCm39)	G225R	probably benign	Het
Rcbtb1	T	G	14: 59,462,206 (GRCm39)	I279S	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Serpine3	A	G	14: 62,929,555 (GRCm39)	D401G	probably damaging	Het
Slc25a4	A	G	8: 46,662,115 (GRCm39)	V181A	probably damaging	Het
Slc26a2	T	G	18: 61,335,130 (GRCm39)	I108L	probably benign	Het
Slc27a5	A	C	7: 12,722,530 (GRCm39)	V648G	possibly damaging	Het
Slc2a7	T	C	4: 150,250,872 (GRCm39)	F431S	probably damaging	Het
Sox11	T	C	12: 27,391,422 (GRCm39)	H329R	possibly damaging	Het
Speg	G	A	1: 75,361,654 (GRCm39)	G223R	probably damaging	Het
Synpo2	G	A	3: 122,911,133 (GRCm39)	H171Y	possibly damaging	Het
Tle6	G	T	10: 81,430,212 (GRCm39)	N323K	possibly damaging	Het
Ugt3a1	A	T	15: 9,367,384 (GRCm39)	M376L	possibly damaging	Het
Unc13d	T	C	11: 115,957,561 (GRCm39)	K798R	probably benign	Het
Vasp	A	T	7: 18,998,433 (GRCm39)	H80Q	probably damaging	Het
Vmn2r28	T	C	7: 5,491,596 (GRCm39)	D217G	probably damaging	Het
Vps41	T	C	13: 19,008,018 (GRCm39)	S284P	probably damaging	Het
Zer1	A	C	2: 30,000,686 (GRCm39)	L245R	probably damaging	Het
Zfp516	G	T	18: 82,973,964 (GRCm39)	R54L	probably damaging	Het
Zfp868	T	C	8: 70,064,292 (GRCm39)	K348E	probably damaging	Het

Other mutations in Jchain

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9576:Jchain	UTSW	5	88,673,976 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTTAGAAGGTAGCTAGCTGTCC -3'
(R):5'- GAGCCATCAAATCCCAGCTTTC -3'

Sequencing Primer
(F):5'- CTGTCCAGCTAGCCAGTAGAAG -3'
(R):5'- CGTAAGTATGAACCATGTGCGTC -3'

Posted On

2021-11-19