Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03154:Igkv4-90'

411182

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv4-90

Ensembl Gene

ENSMUSG00000076533

Gene Name

immunoglobulin kappa chain variable 4-90

Synonyms

Gm16906

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

IGL03154

Quality Score

Status

Chromosome

Chromosomal Location

68784164-68784692 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 68784256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 87 (G87R)

Ref Sequence

ENSEMBL: ENSMUSP00000100135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103334]

AlphaFold

A0A075B5L3

Predicted Effect

probably damaging
Transcript: ENSMUST00000103334
AA Change: G87R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100135
Gene: ENSMUSG00000076533
AA Change: G87R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IGv	40	111	9.2e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197261

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	A	G	19: 20,608,132 (GRCm39)	E318G	probably benign	Het
Alpi	A	T	1: 87,027,810 (GRCm39)	W257R	probably damaging	Het
Arap2	T	C	5: 62,800,268 (GRCm39)	E1253G	probably damaging	Het
Fbxw13	G	T	9: 109,010,533 (GRCm39)	F368L	probably damaging	Het
H2-T9	T	A	17: 36,438,767 (GRCm39)	N208I	probably benign	Het
Herc2	T	A	7: 55,851,907 (GRCm39)	D3655E	probably damaging	Het
Hkdc1	T	A	10: 62,221,484 (GRCm39)	D858V	probably damaging	Het
Ifi205	A	C	1: 173,845,232 (GRCm39)		probably benign	Het
Ighv10-3	T	A	12: 114,487,507 (GRCm39)	M1L	probably benign	Het
Insc	G	A	7: 114,441,424 (GRCm39)	G413S	probably null	Het
Iqch	T	A	9: 63,361,964 (GRCm39)	T850S	probably damaging	Het
Kcnd2	A	G	6: 21,216,707 (GRCm39)	Y137C	probably damaging	Het
Lhx6	A	T	2: 35,984,455 (GRCm39)		probably null	Het
Lrp2	A	G	2: 69,379,386 (GRCm39)	S109P	probably damaging	Het
Mroh1	T	C	15: 76,337,038 (GRCm39)	L1617P	probably damaging	Het
Or11g24	A	T	14: 50,662,080 (GRCm39)	I35F	probably benign	Het
Or1j17	A	T	2: 36,578,655 (GRCm39)	I214F	possibly damaging	Het
Or4d1	A	T	11: 87,805,072 (GRCm39)	V220D	possibly damaging	Het
Or52b3	G	T	7: 102,203,913 (GRCm39)	V141L	probably benign	Het
Prex2	T	C	1: 11,223,857 (GRCm39)	V727A	possibly damaging	Het
Ralgapb	A	G	2: 158,274,786 (GRCm39)	H229R	probably damaging	Het
Rusc2	G	A	4: 43,425,806 (GRCm39)	G1304S	probably benign	Het
Sbsn	A	G	7: 30,451,153 (GRCm39)	N56S	possibly damaging	Het
Skint8	T	A	4: 111,796,707 (GRCm39)		probably null	Het
Tasor2	A	T	13: 3,625,255 (GRCm39)	M1565K	possibly damaging	Het
Uso1	C	A	5: 92,328,477 (GRCm39)	S358*	probably null	Het

Other mutations in Igkv4-90

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3729:Igkv4-90	UTSW	6	68,784,665 (GRCm39)	missense	probably benign	0.43
R4259:Igkv4-90	UTSW	6	68,784,461 (GRCm39)	missense	possibly damaging	0.60
R5873:Igkv4-90	UTSW	6	68,784,453 (GRCm39)	missense	probably benign	0.00
R6843:Igkv4-90	UTSW	6	68,784,670 (GRCm39)	missense	possibly damaging	0.87
R9250:Igkv4-90	UTSW	6	68,784,331 (GRCm39)	nonsense	probably null

Posted On

2016-08-02