Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00516:Igkv2-109'

332538

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 #

IGL00516

Quality Score

Status

Chromosome

Chromosomal Location

68279423-68280142 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68280054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 92 (S92T)

Ref Sequence

ENSEMBL: ENSMUSP00000100123 (fasta)

Gene Model

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

AlphaFold

A0A075B5K6

Predicted Effect

probably benign
Transcript: ENSMUST00000103322
AA Change: S92T

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100123
Gene: ENSMUSG00000105606
AA Change: S92T

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	T	C	11: 80,267,638 (GRCm39)	D91G	possibly damaging	Het
Abcc1	T	A	16: 14,231,176 (GRCm39)	L438*	probably null	Het
Asph	A	T	4: 9,639,322 (GRCm39)	N14K	probably damaging	Het
Baz1b	T	C	5: 135,245,444 (GRCm39)	Y298H	probably damaging	Het
Ccdc66	A	T	14: 27,220,413 (GRCm39)	W267R	probably damaging	Het
Cd81	A	C	7: 142,620,901 (GRCm39)	K193N	probably damaging	Het
Cdkn1a	C	A	17: 29,317,494 (GRCm39)	A38E	possibly damaging	Het
Cflar	T	C	1: 58,771,469 (GRCm39)	I199T	probably benign	Het
Cmya5	A	G	13: 93,234,675 (GRCm39)	S138P	possibly damaging	Het
Cnot1	T	C	8: 96,452,707 (GRCm39)	N2123S	probably damaging	Het
Crybg3	A	G	16: 59,350,803 (GRCm39)	S846P	probably benign	Het
Cyp2d9	A	G	15: 82,339,295 (GRCm39)	I21M	probably benign	Het
Ddx41	T	C	13: 55,680,280 (GRCm39)	T371A	probably damaging	Het
Dnhd1	A	T	7: 105,306,418 (GRCm39)	I425F	possibly damaging	Het
Dsc1	T	C	18: 20,234,943 (GRCm39)	D237G	probably damaging	Het
Emc1	T	C	4: 139,082,393 (GRCm39)		probably benign	Het
Epc1	T	A	18: 6,450,515 (GRCm39)	D367V	probably damaging	Het
Glp1r	A	G	17: 31,144,532 (GRCm39)	Y235C	probably damaging	Het
Helb	A	G	10: 119,941,329 (GRCm39)	V453A	probably damaging	Het
Hras	A	G	7: 140,772,783 (GRCm39)	I24T	possibly damaging	Het
Hsf2	A	T	10: 57,388,124 (GRCm39)	I423L	probably benign	Het
Kiss1r	G	A	10: 79,754,550 (GRCm39)	A15T	possibly damaging	Het
Krt79	T	C	15: 101,848,601 (GRCm39)	S17G	probably damaging	Het
Lrrc14b	T	C	13: 74,509,078 (GRCm39)	D443G	probably damaging	Het
Map4k4	T	A	1: 40,053,762 (GRCm39)	V953E	probably damaging	Het
Mybpc2	G	A	7: 44,154,829 (GRCm39)		probably benign	Het
Nadsyn1	T	C	7: 143,366,530 (GRCm39)	E173G	probably damaging	Het
Neurl4	C	T	11: 69,801,219 (GRCm39)	R1199W	probably damaging	Het
Otog	T	A	7: 45,900,706 (GRCm39)	V333E	probably damaging	Het
Pdcd2l	A	T	7: 33,884,246 (GRCm39)		probably null	Het
Plagl1	A	G	10: 13,003,616 (GRCm39)		probably benign	Het
Rbm34	T	C	8: 127,696,736 (GRCm39)	N122S	probably benign	Het
Shank2	A	G	7: 143,964,512 (GRCm39)	K917E	possibly damaging	Het
Slc17a8	T	C	10: 89,427,157 (GRCm39)	K315E	possibly damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Sytl2	A	G	7: 90,022,113 (GRCm39)	T183A	probably benign	Het
Tnik	T	A	3: 28,708,367 (GRCm39)	I1067N	probably damaging	Het
Tpd52l2	A	G	2: 181,154,861 (GRCm39)	D192G	probably damaging	Het
Trhde	A	T	10: 114,282,104 (GRCm39)	I791N	probably benign	Het
Ttc28	A	T	5: 111,373,554 (GRCm39)	N966Y	probably damaging	Het
Vps13b	A	T	15: 35,640,703 (GRCm39)	D1356V	probably damaging	Het
Zmym2	A	G	14: 57,185,394 (GRCm39)		probably benign	Het

Other mutations in Igkv2-109

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03285:Igkv2-109	APN	6	68,279,902 (GRCm39)	missense	probably damaging	1.00
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

2015-08-05