Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01376:Iglv2'

78719

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Iglv2

Ensembl Gene

ENSMUSG00000076940

Gene Name

immunoglobulin lambda variable 2

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01376

Quality Score

Status

Chromosome

Chromosomal Location

19260403-19260844 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 19260565 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 62 (H62N)

Ref Sequence

ENSEMBL: ENSMUSP00000100466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103752] [ENSMUST00000197518]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103752
AA Change: H62N

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000100466
Gene: ENSMUSG00000076940
AA Change: H62N

Domain	Start	End	E-Value	Type
low complexity region	5	18	N/A	INTRINSIC
IGv	35	110	9.84e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197518
AA Change: H63N

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142646
Gene: ENSMUSG00000076940
AA Change: H63N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	111	9.84e-12	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	G	1: 37,628,344	L207P	probably damaging	Het
4930568D16Rik	A	T	2: 35,355,628	I61K	probably benign	Het
Acot12	A	G	13: 91,784,671	Y521C	probably damaging	Het
Anxa7	T	C	14: 20,460,456	N313D	probably benign	Het
Cdk14	T	C	5: 5,010,839	I327M	probably damaging	Het
Clca3b	T	C	3: 144,826,051	N664S	possibly damaging	Het
Cpb1	A	C	3: 20,270,324	L62R	probably benign	Het
Eef2	G	A	10: 81,178,049		probably benign	Het
Enox1	T	C	14: 77,251,843		probably benign	Het
Esco1	A	T	18: 10,594,892	C131*	probably null	Het
Etv1	A	T	12: 38,857,040	D347V	probably damaging	Het
Fat1	A	G	8: 45,026,841	I2975V	probably benign	Het
Ghsr	A	G	3: 27,371,828	E11G	probably benign	Het
Gins4	T	C	8: 23,227,327	D166G	probably benign	Het
Irf2bp1	T	C	7: 19,006,027	S531P	possibly damaging	Het
Lrig3	T	A	10: 125,994,466	F144L	probably benign	Het
Magi1	C	T	6: 94,283,093	R77Q	possibly damaging	Het
Mlkl	A	G	8: 111,319,747	L298P	probably damaging	Het
Ndc1	T	C	4: 107,375,197	L193P	probably damaging	Het
Npas3	A	T	12: 54,044,586	T308S	probably benign	Het
Nt5dc3	A	T	10: 86,834,164	Q541L	probably benign	Het
Olfr1084	A	C	2: 86,639,609	V33G	probably benign	Het
Olfr1115	T	C	2: 87,252,873	V312A	possibly damaging	Het
Parp10	G	T	15: 76,241,677	T437K	probably benign	Het
Phf3	A	G	1: 30,830,485	V494A	possibly damaging	Het
Prpf8	C	A	11: 75,494,295	A794D	possibly damaging	Het
Sars2	T	A	7: 28,749,883	Y307N	probably damaging	Het
Serping1	A	T	2: 84,770,185	V271E	probably damaging	Het
Sgpl1	G	A	10: 61,114,070	P117S	probably damaging	Het
Slc38a1	A	C	15: 96,585,556	L297R	probably damaging	Het
Strbp	A	G	2: 37,645,651	M15T	probably damaging	Het
Tdp2	A	G	13: 24,836,949		probably null	Het
Tex10	T	C	4: 48,456,740	Y657C	possibly damaging	Het
Xrcc4	A	T	13: 90,062,050	S92T	probably benign	Het

Other mutations in Iglv2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Iglv2	APN	16	19260797	critical splice donor site	probably benign
R3831:Iglv2	UTSW	16	19260843	start codon destroyed	probably null	0.53
R3832:Iglv2	UTSW	16	19260843	start codon destroyed	probably null	0.53
R3833:Iglv2	UTSW	16	19260843	start codon destroyed	probably null	0.53
R7195:Iglv2	UTSW	16	19260510	missense	not run
R9149:Iglv2	UTSW	16	19260684	missense	probably damaging	1.00
R9762:Iglv2	UTSW	16	19260798	critical splice donor site	probably benign

Posted On

2013-11-05