Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03199:Igkv2-112'

412920

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 #

IGL03199

Quality Score

Status

Chromosome

Chromosomal Location

68196965-68197689 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 68197000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 12 (M12I)

Ref Sequence

ENSEMBL: ENSMUSP00000100119 (fasta)

Gene Model

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

AlphaFold

P01627

Predicted Effect

probably benign
Transcript: ENSMUST00000103318
AA Change: M12I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000100119
Gene: ENSMUSG00000076518
AA Change: M12I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000103319
AA Change: M12I

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000100120
Gene: ENSMUSG00000076518
AA Change: M12I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199402

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 81,946,556 (GRCm39)	I151T	possibly damaging	Het
Alms1	T	A	6: 85,599,479 (GRCm39)	M1904K	possibly damaging	Het
Chsy3	T	A	18: 59,309,473 (GRCm39)	F242Y	probably damaging	Het
Cwf19l2	G	A	9: 3,477,830 (GRCm39)	G845D	probably damaging	Het
Cyfip2	A	G	11: 46,167,670 (GRCm39)	I244T	probably benign	Het
Dnah10	A	T	5: 124,894,761 (GRCm39)	Q3499L	probably benign	Het
Fat3	A	G	9: 16,288,344 (GRCm39)	V393A	possibly damaging	Het
Fcamr	T	A	1: 130,740,655 (GRCm39)	V358D	probably damaging	Het
Fndc3c1	T	A	X: 105,479,993 (GRCm39)	K696N	possibly damaging	Het
Macc1	T	C	12: 119,410,156 (GRCm39)	M308T	probably benign	Het
Map4k1	A	G	7: 28,682,842 (GRCm39)	E16G	probably damaging	Het
Myl7	C	T	11: 5,848,205 (GRCm39)	G50R	probably damaging	Het
Ncapg2	T	A	12: 116,382,856 (GRCm39)	L229H	probably damaging	Het
Or10d4b	A	G	9: 39,535,240 (GRCm39)	I272V	probably benign	Het
Prkcz	A	G	4: 155,357,441 (GRCm39)	F157L	possibly damaging	Het
Sult2a1	C	A	7: 13,566,585 (GRCm39)	G130V	probably damaging	Het
Trim27	G	A	13: 21,375,421 (GRCm39)		probably null	Het
Trim43b	T	G	9: 88,971,481 (GRCm39)	Q225P	probably damaging	Het
Ugt2b34	A	G	5: 87,054,739 (GRCm39)	L14P	unknown	Het
Vmn1r209	A	T	13: 22,990,220 (GRCm39)	S157T	possibly damaging	Het
Vmn2r38	A	T	7: 9,078,375 (GRCm39)	V669D	probably damaging	Het
Vps35l	T	C	7: 118,365,611 (GRCm39)	S15P	probably benign	Het
Zfp422	T	C	6: 116,603,912 (GRCm39)	Q29R	probably benign	Het
Zfp623	C	T	15: 75,819,119 (GRCm39)	A25V	probably benign	Het

Other mutations in Igkv2-112

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01831:Igkv2-112	APN	6	68,197,481 (GRCm39)	missense	possibly damaging	0.69
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

2016-08-02