Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02874:Igkv4-78'

362628

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv4-78

Ensembl Gene

ENSMUSG00000094315

Gene Name

immunoglobulin kappa variable 4-78

Synonyms

Igkv4-78 immunoglobulin light chain variable region

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.607) question?

Stock #

IGL02874

Quality Score

Status

Chromosome

Chromosomal Location

69036674-69037208 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69037190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 7 (I7V)

Ref Sequence

ENSEMBL: ENSMUSP00000100144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103343]

AlphaFold

A0A0A6YYE5

Predicted Effect

probably benign
Transcript: ENSMUST00000103343
AA Change: I7V

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100144
Gene: ENSMUSG00000094315
AA Change: I7V

Domain	Start	End	E-Value	Type
IGv	40	113	8.89e-19	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a2	A	G	14: 60,039,701 (GRCm39)	Y876H	probably damaging	Het
Cfap65	G	A	1: 74,950,267 (GRCm39)	Q1161*	probably null	Het
Chrd	C	T	16: 20,553,946 (GRCm39)	T282I	probably damaging	Het
Clasp1	T	C	1: 118,479,773 (GRCm39)	S749P	possibly damaging	Het
Clec4a3	T	A	6: 122,944,519 (GRCm39)	N188K	probably benign	Het
Dmpk	A	G	7: 18,820,926 (GRCm39)	M181V	possibly damaging	Het
Dnah7a	A	T	1: 53,644,973 (GRCm39)	M1021K	possibly damaging	Het
Exoc5	A	T	14: 49,288,903 (GRCm39)	N48K	probably benign	Het
Golga1	A	G	2: 38,929,104 (GRCm39)	L338P	probably damaging	Het
Hdc	T	A	2: 126,443,596 (GRCm39)	T334S	probably benign	Het
Idh2	A	G	7: 79,747,621 (GRCm39)	S300P	probably damaging	Het
Impdh1	A	T	6: 29,203,155 (GRCm39)	M389K	probably damaging	Het
Kcnd2	T	A	6: 21,216,922 (GRCm39)	C209S	probably damaging	Het
Or11g25	G	T	14: 50,723,686 (GRCm39)	C257F	possibly damaging	Het
Or4q3	A	T	14: 50,583,583 (GRCm39)	H105Q	probably damaging	Het
Or56b2	C	A	7: 104,337,230 (GRCm39)	Q3K	probably benign	Het
Ovol1	T	C	19: 5,601,209 (GRCm39)	K194R	probably damaging	Het
Pcdh17	A	T	14: 84,685,680 (GRCm39)	I716F	possibly damaging	Het
Pck1	T	C	2: 172,997,042 (GRCm39)	I228T	probably damaging	Het
Pla2g2a	T	C	4: 138,562,159 (GRCm39)	F132L	probably benign	Het
Prex1	A	G	2: 166,426,967 (GRCm39)	V1086A	probably damaging	Het
Rasd2	T	C	8: 75,945,327 (GRCm39)	I52T	probably damaging	Het
Robo1	T	C	16: 72,809,806 (GRCm39)	Y1185H	probably damaging	Het
Sema6c	T	G	3: 95,077,688 (GRCm39)	V441G	probably damaging	Het
Slc9a4	A	T	1: 40,623,198 (GRCm39)	M146L	probably benign	Het
Thsd4	C	T	9: 60,160,013 (GRCm39)	V358I	probably damaging	Het
Ttbk1	T	C	17: 46,781,151 (GRCm39)	E474G	probably benign	Het
Ttbk2	T	A	2: 120,576,193 (GRCm39)	D928V	probably damaging	Het
Ttn	C	T	2: 76,641,522 (GRCm39)	G11779S	probably damaging	Het
Wfdc6b	T	C	2: 164,459,368 (GRCm39)		probably null	Het

Other mutations in Igkv4-78

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4557:Igkv4-78	UTSW	6	69,036,755 (GRCm39)	missense	possibly damaging	0.81
R4845:Igkv4-78	UTSW	6	69,037,207 (GRCm39)	start codon destroyed	probably null	0.30
R6114:Igkv4-78	UTSW	6	69,036,743 (GRCm39)	missense	possibly damaging	0.62
R6237:Igkv4-78	UTSW	6	69,036,683 (GRCm39)	missense	probably benign	0.00
R7292:Igkv4-78	UTSW	6	69,036,752 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18