Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01391:Jchain'

79230

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jchain

Ensembl Gene

ENSMUSG00000067149

Gene Name

immunoglobulin joining chain

Synonyms

J chain, Jch, 9530090F24Rik, Igj

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01391

Quality Score

Status

Chromosome

Chromosomal Location

88667663-88675667 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88669383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 90 (C90Y)

Ref Sequence

ENSEMBL: ENSMUSP00000084259 (fasta)

Gene Model

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

AlphaFold

P01592

Predicted Effect

probably damaging
Transcript: ENSMUST00000087033
AA Change: C90Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084259
Gene: ENSMUSG00000067149
AA Change: C90Y

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Ig_J_chain	1	119	1.3e-72	PFAM

Coding Region Coverage

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3m2	T	A	8: 23,289,663 (GRCm39)	I147F	probably benign	Het
Areg	T	A	5: 91,288,954 (GRCm39)	S87T	probably damaging	Het
Arid1b	T	A	17: 5,369,133 (GRCm39)		probably benign	Het
Arl6ip6	A	G	2: 53,082,156 (GRCm39)	R8G	probably benign	Het
Brms1	A	G	19: 5,096,723 (GRCm39)	E135G	possibly damaging	Het
Ccser1	A	G	6: 61,615,505 (GRCm39)		probably benign	Het
Dock3	A	T	9: 106,784,433 (GRCm39)	M258K	possibly damaging	Het
Epb41l4a	T	G	18: 33,934,678 (GRCm39)	D562A	possibly damaging	Het
Etaa1	G	A	11: 17,896,005 (GRCm39)	T704I	probably damaging	Het
Fer1l4	T	A	2: 155,878,376 (GRCm39)	H972L	probably damaging	Het
Foxn1	A	G	11: 78,252,320 (GRCm39)	M356T	probably damaging	Het
Gfral	C	A	9: 76,072,107 (GRCm39)	G388*	probably null	Het
Gm12258	A	G	11: 58,739,520 (GRCm39)	T3A	probably benign	Het
Hoxa5	T	C	6: 52,181,311 (GRCm39)	N7S	probably damaging	Het
Itgb4	T	C	11: 115,881,746 (GRCm39)	L765P	probably damaging	Het
Klhl40	A	G	9: 121,607,983 (GRCm39)	Y381C	probably damaging	Het
Lhx6	A	T	2: 35,993,477 (GRCm39)	C74S	probably benign	Het
Magel2	A	G	7: 62,030,632 (GRCm39)	S1179G	unknown	Het
Mapre3	T	C	5: 31,022,241 (GRCm39)	I236T	probably damaging	Het
Mcf2l	A	T	8: 13,064,010 (GRCm39)		probably null	Het
Med13	A	T	11: 86,219,323 (GRCm39)	H374Q	probably benign	Het
Meioc	A	G	11: 102,565,113 (GRCm39)	Y187C	probably benign	Het
Myh1	G	A	11: 67,108,689 (GRCm39)	M1368I	probably benign	Het
Or14a258	A	T	7: 86,035,208 (GRCm39)	I220N	possibly damaging	Het
Or8b54	A	G	9: 38,686,826 (GRCm39)	I92V	probably damaging	Het
Phrf1	T	C	7: 140,842,394 (GRCm39)	Y1501H	probably damaging	Het
Pigb	T	C	9: 72,929,573 (GRCm39)	T337A	probably damaging	Het
Pls1	T	C	9: 95,655,751 (GRCm39)	K334E	probably benign	Het
Pramel51	C	T	12: 88,145,225 (GRCm39)	V34I	possibly damaging	Het
Rab3b	T	C	4: 108,797,999 (GRCm39)	C226R	probably damaging	Het
Ryr2	A	T	13: 11,571,571 (GRCm39)	I4889N	possibly damaging	Het
Serpinb1a	G	A	13: 33,029,398 (GRCm39)	S210L	probably benign	Het
Slc52a3	A	G	2: 151,849,522 (GRCm39)	I390V	probably benign	Het
Slc6a7	C	A	18: 61,136,382 (GRCm39)	A340S	probably damaging	Het
Tcaf3	T	C	6: 42,570,615 (GRCm39)	Y379C	probably damaging	Het
Tex261	A	G	6: 83,748,222 (GRCm39)	V180A	probably benign	Het
Tnnt1	C	T	7: 4,517,211 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,798,847 (GRCm39)	T476A	possibly damaging	Het
Vcan	A	G	13: 89,852,288 (GRCm39)	S891P	probably benign	Het
Vmn2r16	T	A	5: 109,511,627 (GRCm39)	D611E	possibly damaging	Het
Vmn2r68	T	C	7: 84,886,819 (GRCm39)	T32A	probably benign	Het
Vwde	T	G	6: 13,190,526 (GRCm39)	S522R	probably benign	Het
Wdr3	G	A	3: 100,054,105 (GRCm39)		probably benign	Het
Wfs1	G	T	5: 37,128,907 (GRCm39)	Q288K	probably benign	Het
Zfp142	A	G	1: 74,618,699 (GRCm39)	V120A	probably damaging	Het
Zfp672	A	G	11: 58,208,192 (GRCm39)	F43S	probably damaging	Het
Znhit3	A	T	11: 84,802,283 (GRCm39)		probably benign	Het

Other mutations in Jchain

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-11-05