Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01831:Igkv2-112'

154789

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv2-112

Ensembl Gene

ENSMUSG00000076518

Gene Name

immunoglobulin kappa variable 2-112

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

IGL01831

Quality Score

Status

Chromosome

Chromosomal Location

68196965-68197689 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 68197481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 50 (Y50F)

Ref Sequence

ENSEMBL: ENSMUSP00000100120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103318] [ENSMUST00000103319]

AlphaFold

P01627

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103318
AA Change: Y51F

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000100119
Gene: ENSMUSG00000076518
AA Change: Y51F

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	115	2.22e-19	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103319
AA Change: Y50F

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000100120
Gene: ENSMUSG00000076518
AA Change: Y50F

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	37	114	2.22e-19	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	T	4: 129,903,187 (GRCm39)	D596Y	probably damaging	Het
Atr	A	G	9: 95,752,807 (GRCm39)	R626G	probably benign	Het
Edem3	T	C	1: 151,671,833 (GRCm39)	F394S	probably damaging	Het
Galk2	C	A	2: 125,817,277 (GRCm39)	N344K	probably benign	Het
Gm20507	T	C	17: 33,861,038 (GRCm39)		probably benign	Het
Itgb1bp1	A	T	12: 21,329,469 (GRCm39)	F2I	unknown	Het
Klhl6	C	T	16: 19,772,235 (GRCm39)	C370Y	probably damaging	Het
Or56b1	T	G	7: 104,285,267 (GRCm39)	Y129D	probably damaging	Het
Or6c70	T	C	10: 129,709,900 (GRCm39)	H242R	probably damaging	Het
Pja2	A	T	17: 64,616,402 (GRCm39)	H164Q	probably benign	Het
Plau	T	A	14: 20,887,838 (GRCm39)		probably benign	Het
Snx4	C	T	16: 33,104,792 (GRCm39)	R247*	probably null	Het

Other mutations in Igkv2-112

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03199:Igkv2-112	APN	6	68,197,000 (GRCm39)	missense	probably benign	0.03
PIT4791001:Igkv2-112	UTSW	6	68,197,599 (GRCm39)	missense	probably damaging	0.99
R4725:Igkv2-112	UTSW	6	68,197,450 (GRCm39)	missense	probably benign	0.10
R7120:Igkv2-112	UTSW	6	68,197,510 (GRCm39)	missense	probably benign	0.17
R8223:Igkv2-112	UTSW	6	68,197,579 (GRCm39)	missense	probably benign	0.01
R9349:Igkv2-112	UTSW	6	68,197,678 (GRCm39)	missense	probably benign
Z1088:Igkv2-112	UTSW	6	68,197,631 (GRCm39)	missense	possibly damaging	0.76

Posted On

2014-02-04