Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01898:Igkv5-43'

179463

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv5-43

Ensembl Gene

ENSMUSG00000094433

Gene Name

immunoglobulin kappa chain variable 5-43

Synonyms

Igk-V23

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.273) question?

Stock #

IGL01898

Quality Score

Status

Chromosome

Chromosomal Location

69800339-69800895 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 69752876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 69 (K69*)

Ref Sequence

ENSEMBL: ENSMUSP00000100167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103366]

AlphaFold

A0A0B4J1J2

Predicted Effect

probably null
Transcript: ENSMUST00000103366
AA Change: K69*

SMART Domains

Protein: ENSMUSP00000100167
Gene: ENSMUSG00000094094
AA Change: K69*

Domain	Start	End	E-Value	Type
IGv	38	110	3.76e-17	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	T	2: 154,394,633 (GRCm39)	D195V	probably damaging	Het
Aqp11	A	G	7: 97,375,870 (GRCm39)	W260R	probably benign	Het
Atp8a2	T	C	14: 60,260,962 (GRCm39)	T390A	probably damaging	Het
Atp8b4	T	C	2: 126,231,281 (GRCm39)	N431S	probably benign	Het
Ccdc110	T	G	8: 46,395,161 (GRCm39)	S351A	possibly damaging	Het
Cntnap4	T	C	8: 113,582,939 (GRCm39)	F1006L	possibly damaging	Het
Ddr2	A	G	1: 169,825,725 (GRCm39)	F292L	possibly damaging	Het
F830104G03Rik	G	A	3: 56,797,637 (GRCm39)	Q97*	probably null	Het
Fam171a2	T	C	11: 102,330,582 (GRCm39)	T267A	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Mios	T	C	6: 8,222,668 (GRCm39)	I534T	probably benign	Het
Nus1	A	G	10: 52,306,163 (GRCm39)	D185G	probably benign	Het
Proc	A	G	18: 32,266,198 (GRCm39)		probably null	Het
Psma3	T	A	12: 71,031,448 (GRCm39)	H36Q	probably benign	Het
Sh3rf3	G	T	10: 58,885,352 (GRCm39)	A412S	probably damaging	Het
Smgc	A	T	15: 91,728,727 (GRCm39)		probably null	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Spta1	T	A	1: 174,041,428 (GRCm39)	S1297R	probably benign	Het
Steap3	T	C	1: 120,169,304 (GRCm39)	D293G	probably benign	Het
Tbx18	A	T	9: 87,589,912 (GRCm39)	M342K	possibly damaging	Het
Trip11	T	C	12: 101,851,935 (GRCm39)	M425V	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het

Other mutations in Igkv5-43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02010:Igkv5-43	APN	6	69,752,936 (GRCm39)	missense	probably benign
R3547:Igkv5-43	UTSW	6	69,753,240 (GRCm39)	critical splice donor site	probably benign
R3744:Igkv5-43	UTSW	6	69,752,921 (GRCm39)	missense	probably benign	0.06
R5620:Igkv5-43	UTSW	6	69,800,892 (GRCm39)	missense	probably benign	0.01
R6196:Igkv5-43	UTSW	6	69,752,965 (GRCm39)	missense	possibly damaging	0.52
R6294:Igkv5-43	UTSW	6	69,800,426 (GRCm39)	missense	probably damaging	0.99
R7114:Igkv5-43	UTSW	6	69,800,515 (GRCm39)	missense	probably damaging	1.00
R7169:Igkv5-43	UTSW	6	69,800,519 (GRCm39)	missense	probably damaging	0.98
R8177:Igkv5-43	UTSW	6	69,800,445 (GRCm39)	missense	probably damaging	1.00
R8705:Igkv5-43	UTSW	6	69,800,592 (GRCm39)	missense	probably benign	0.44
R9773:Igkv5-43	UTSW	6	69,752,858 (GRCm39)	missense	probably damaging	0.96

Posted On

2014-05-07