Mutagenetix > Incidental Mutations

Incidental Mutation 'R6275:Jchain'

507569

Institutional Source

Beutler Lab

Gene Symbol

Jchain

Ensembl Gene

ENSMUSG00000067149

Gene Name

immunoglobulin joining chain

Synonyms

J chain, 9530090F24Rik, Igj, Jch

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88519809-88527891 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88521353 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 147 (V147E)

Ref Sequence

ENSEMBL: ENSMUSP00000084259 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000087033
AA Change: V147E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084259
Gene: ENSMUSG00000067149
AA Change: V147E

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

Meta Mutation Damage Score

0.6403

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.4%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,285,368	D3936G	probably damaging	Het
Abca7	T	A	10: 79,997,791	L30H	probably damaging	Het
Abcb6	T	C	1: 75,172,551		probably null	Het
Acsbg1	T	A	9: 54,609,772	M586L	probably benign	Het
Ano6	A	T	15: 95,913,433	Y159F	probably damaging	Het
C1ql1	A	G	11: 102,939,749	I254T	probably damaging	Het
Ccdc81	T	C	7: 89,882,311	D318G	possibly damaging	Het
Ccr7	C	T	11: 99,145,663	M144I	probably damaging	Het
Cdca3	C	T	6: 124,832,664		probably null	Het
Ces1h	A	T	8: 93,372,646	L93I	probably benign	Het
Cntfr	T	C	4: 41,663,216	D197G	possibly damaging	Het
Cyp2d12	C	A	15: 82,556,658	P126T	probably benign	Het
Dnah10	A	G	5: 124,785,184	T2225A	probably damaging	Het
Edrf1	A	T	7: 133,667,582	N1147Y	possibly damaging	Het
Ermap	C	T	4: 119,178,550	V414M	probably damaging	Het
Fam13a	A	G	6: 58,954,257	I446T	probably damaging	Het
Fgfbp3	T	C	19: 36,918,753	H155R	possibly damaging	Het
Folr1	T	A	7: 101,859,535	N61I	probably damaging	Het
Fsip1	T	C	2: 118,205,102	I431V	probably benign	Het
Gm5039	T	C	12: 88,321,225	D86G	possibly damaging	Het
Gm5493	A	T	17: 22,750,070	E74D	probably benign	Het
Gm6803	T	C	12: 88,018,485	N96S	probably benign	Het
H2-Oa	A	G	17: 34,094,566	D197G	probably benign	Het
Hps1	T	C	19: 42,769,607	E169G	probably null	Het
Il17rc	A	T	6: 113,480,347	M372L	probably benign	Het
Itga10	A	G	3: 96,658,185	S1042G	probably benign	Het
Laptm4b	A	G	15: 34,283,327	T211A	probably benign	Het
Mal2	T	C	15: 54,571,639		probably null	Het
Mov10l1	T	A	15: 89,026,620	I1071N	probably damaging	Het
Mpp2	T	A	11: 102,060,969	Y401F	probably damaging	Het
Myh15	A	G	16: 49,145,247	T1172A	probably benign	Het
Olfr635	T	A	7: 103,979,974	S261T	probably damaging	Het
Pcnx	G	T	12: 81,918,607	S516I	probably benign	Het
Pidd1	C	T	7: 141,439,795	A685T	probably damaging	Het
Psg28	A	C	7: 18,430,440	Y116D	probably damaging	Het
Psmd11	T	C	11: 80,438,632		probably benign	Het
Rapgefl1	T	A	11: 98,851,120	Y637N	probably damaging	Het
Rbm25	T	A	12: 83,644,432	M66K	probably damaging	Het
Rnf38	T	A	4: 44,152,408	H52L	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGTGGCGGCGG	7: 97,579,923		probably benign	Het
Sec62	A	G	3: 30,809,836	Q89R	probably damaging	Het
Serpina6	T	A	12: 103,648,720	Q289L	probably benign	Het
Sf3b2	A	C	19: 5,283,650	I640S	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Slc26a11	T	C	11: 119,359,299	F127L	probably benign	Het
Stac3	T	A	10: 127,507,746	Y252*	probably null	Het
Stoml3	G	A	3: 53,507,506	A240T	probably damaging	Het
Tanc1	A	T	2: 59,843,510	H1653L	probably benign	Het
Tll1	A	T	8: 64,051,367	L665*	probably null	Het
Tnr	A	C	1: 159,861,270	Q434P	probably damaging	Het
Tpgs1	C	A	10: 79,675,520	D165E	probably benign	Het
Tsc2	A	G	17: 24,600,420	V1185A	probably benign	Het
Tulp4	A	G	17: 6,198,736	H203R	probably damaging	Het
Txnl4a	T	A	18: 80,218,765	M72K	possibly damaging	Het
Usp42	G	A	5: 143,714,972	R1099W	probably damaging	Het
Zfp292	G	A	4: 34,808,883	A1387V	possibly damaging	Het
Zfp994	A	T	17: 22,199,991	L659*	probably null	Het

Other mutations in Jchain

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Jchain	APN	5	88521524	missense	probably damaging	1.00
R0403:Jchain	UTSW	5	88521378	missense	probably benign	0.01
R0718:Jchain	UTSW	5	88526202	missense	probably benign	0.00
R1470:Jchain	UTSW	5	88526120	missense	probably benign	0.21
R1470:Jchain	UTSW	5	88526120	missense	probably benign	0.21
R1987:Jchain	UTSW	5	88521467	missense	probably damaging	0.99
R3684:Jchain	UTSW	5	88522539	missense	probably damaging	1.00
R5010:Jchain	UTSW	5	88522505	missense	probably damaging	0.98
R5785:Jchain	UTSW	5	88522517	missense	probably benign	0.13
R6076:Jchain	UTSW	5	88527772	missense	probably benign
R6250:Jchain	UTSW	5	88526175	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAGACATGAGGATTTACTACTTCG -3'
(R):5'- CAGCTGTAAGAAATGCGATCCTG -3'

Sequencing Primer
(F):5'- GAGGATTTACTACTTCGAATTGAGAG -3'
(R):5'- AATGCGATCCTGTGGAAGTG -3'

Posted On

2018-03-15