Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03039:Igkv4-50'

408816

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv4-50

Ensembl Gene

ENSMUSG00000076562

Gene Name

immunoglobulin kappa variable 4-50

Synonyms

IgVk 4-50, LOC381782

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

IGL03039

Quality Score

Status

Chromosome

Chromosomal Location

69677751-69678271 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69678042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 21 (R21G)

Ref Sequence

ENSEMBL: ENSMUSP00000100164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103363]

AlphaFold

A0A0B4J1J0

Predicted Effect

probably benign
Transcript: ENSMUST00000103363
AA Change: R21G

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000100164
Gene: ENSMUSG00000076562
AA Change: R21G

Domain	Start	End	E-Value	Type
IGv	40	111	1.02e-18	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	C	12: 113,454,502 (GRCm39)	C440R	probably damaging	Het
Agbl2	A	G	2: 90,631,566 (GRCm39)	D308G	possibly damaging	Het
Cfh	G	T	1: 140,063,999 (GRCm39)	Q408K	possibly damaging	Het
Chrna7	A	G	7: 62,798,340 (GRCm39)	L114P	probably damaging	Het
Defa35	G	A	8: 21,555,839 (GRCm39)	C66Y	probably damaging	Het
Dnah12	C	A	14: 26,445,667 (GRCm39)	Q743K	probably benign	Het
Elapor2	A	G	5: 9,468,055 (GRCm39)	E241G	probably benign	Het
Esco2	T	C	14: 66,068,867 (GRCm39)	K148E	probably damaging	Het
Gm17079	T	A	14: 51,930,518 (GRCm39)	E109V	probably damaging	Het
Herc2	T	A	7: 55,818,769 (GRCm39)		probably benign	Het
Igkv1-88	T	C	6: 68,839,276 (GRCm39)	Y112C	possibly damaging	Het
Kbtbd11	A	G	8: 15,077,467 (GRCm39)	D22G	probably benign	Het
Kcnb2	A	G	1: 15,781,435 (GRCm39)	D769G	probably benign	Het
Kdm2b	C	A	5: 123,019,734 (GRCm39)	W817L	probably benign	Het
Myo18b	A	G	5: 112,988,637 (GRCm39)	V983A	probably damaging	Het
Nr1d2	A	T	14: 18,215,184 (GRCm38)	M276K	probably benign	Het
Or10ag59	T	A	2: 87,405,536 (GRCm39)	M36K	probably benign	Het
Or2ak7	T	A	11: 58,574,837 (GRCm39)	V46D	probably damaging	Het
Phf20	T	C	2: 156,140,461 (GRCm39)	Y712H	probably damaging	Het
Phkg2	T	A	7: 127,178,866 (GRCm39)	Y27*	probably null	Het
Pomt2	C	A	12: 87,157,140 (GRCm39)	L726F	probably benign	Het
Setd3	T	C	12: 108,129,229 (GRCm39)		probably null	Het
Skint4	T	C	4: 111,981,847 (GRCm39)	V272A	probably benign	Het
Slc41a2	A	G	10: 83,119,722 (GRCm39)	Y347H	probably benign	Het
Slc45a2	T	C	15: 11,012,773 (GRCm39)	S259P	probably benign	Het
Tgfbr3	A	C	5: 107,325,665 (GRCm39)		probably benign	Het
Tgfbrap1	A	T	1: 43,115,088 (GRCm39)	I4N	possibly damaging	Het
Trh	C	A	6: 92,220,709 (GRCm39)	R51L	probably damaging	Het
Vars2	A	T	17: 35,975,013 (GRCm39)	V312E	probably damaging	Het
Wdfy2	T	C	14: 63,186,169 (GRCm39)	V268A	probably benign	Het

Other mutations in Igkv4-50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Igkv4-50	APN	6	69,677,921 (GRCm39)	missense	probably benign	0.01
IGL02612:Igkv4-50	APN	6	69,678,024 (GRCm39)	missense	probably benign	0.24
R3547:Igkv4-50	UTSW	6	69,677,765 (GRCm39)	missense	probably benign	0.31
R4731:Igkv4-50	UTSW	6	69,677,984 (GRCm39)	missense	probably benign	0.02
R4732:Igkv4-50	UTSW	6	69,677,984 (GRCm39)	missense	probably benign	0.02
R4733:Igkv4-50	UTSW	6	69,677,984 (GRCm39)	missense	probably benign	0.02
R7572:Igkv4-50	UTSW	6	69,677,951 (GRCm39)	missense	probably damaging	0.98
R9401:Igkv4-50	UTSW	6	69,677,967 (GRCm39)	missense

Posted On

2016-08-02