Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03285:Igkv2-109'

415679

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv2-109

Ensembl Gene

ENSMUSG00000105606

Gene Name

immunoglobulin kappa variable 2-109

Synonyms

ENSMUSG00000060986

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

IGL03285

Quality Score

Status

Chromosome

Chromosomal Location

68279423-68280142 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68279902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 41 (I41T)

Ref Sequence

ENSEMBL: ENSMUSP00000100123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103322]

AlphaFold

A0A075B5K6

Predicted Effect

probably damaging
Transcript: ENSMUST00000103322
AA Change: I41T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100123
Gene: ENSMUSG00000105606
AA Change: I41T

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	115	6.84e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197986

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
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Atp7a	A	T	X: 105,153,381 (GRCm39)	E1094D	probably benign	Het
Carf	A	G	1: 60,185,313 (GRCm39)	T453A	probably damaging	Het
Catsperg1	T	C	7: 28,897,597 (GRCm39)	N229S	possibly damaging	Het
Ctdspl2	T	C	2: 121,817,480 (GRCm39)	Y176H	probably damaging	Het
Dnah7b	A	T	1: 46,221,535 (GRCm39)	N1213I	probably benign	Het
Fgfr3	G	A	5: 33,892,557 (GRCm39)	R726H	probably damaging	Het
Garre1	T	C	7: 33,984,416 (GRCm39)	H69R	possibly damaging	Het
Gm1527	A	T	3: 28,974,566 (GRCm39)	I460F	probably damaging	Het
Gm382	T	C	X: 125,969,318 (GRCm39)	I501T	possibly damaging	Het
Igfl3	T	C	7: 17,914,172 (GRCm39)		probably benign	Het
Itga4	A	C	2: 79,109,510 (GRCm39)	K236N	possibly damaging	Het
Kcnj1	A	T	9: 32,308,157 (GRCm39)	T174S	possibly damaging	Het
Kif17	A	G	4: 137,996,301 (GRCm39)	T93A	probably damaging	Het
Lamc1	G	T	1: 153,103,431 (GRCm39)	N1378K	possibly damaging	Het
Ldlrad2	T	C	4: 137,300,955 (GRCm39)	M28V	probably benign	Het
Lrrc37a	C	T	11: 103,388,499 (GRCm39)	E2309K	unknown	Het
Met	T	C	6: 17,553,336 (GRCm39)	S1041P	probably damaging	Het
Nscme3l	A	G	19: 5,553,205 (GRCm39)	L192P	probably damaging	Het
Rimbp3	T	C	16: 17,031,096 (GRCm39)	S1507P	probably benign	Het
Slc7a2	A	G	8: 41,368,030 (GRCm39)	D598G	possibly damaging	Het
Tdo2	A	G	3: 81,866,096 (GRCm39)		probably null	Het
Ugt2b37	T	C	5: 87,388,734 (GRCm39)	D493G	probably damaging	Het
Vps50	G	A	6: 3,555,011 (GRCm39)	V395I	possibly damaging	Het

Other mutations in Igkv2-109

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Igkv2-109	APN	6	68,280,054 (GRCm39)	missense	probably benign	0.26
R4510:Igkv2-109	UTSW	6	68,279,962 (GRCm39)	missense	probably damaging	1.00
R4511:Igkv2-109	UTSW	6	68,279,962 (GRCm39)	missense	probably damaging	1.00
R5113:Igkv2-109	UTSW	6	68,280,069 (GRCm39)	missense	possibly damaging	0.85
R5231:Igkv2-109	UTSW	6	68,279,429 (GRCm39)	missense	probably benign	0.01
R5933:Igkv2-109	UTSW	6	68,279,965 (GRCm39)	missense	possibly damaging	0.89
R8164:Igkv2-109	UTSW	6	68,279,853 (GRCm39)	missense	probably damaging	0.97
R8965:Igkv2-109	UTSW	6	68,280,112 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02