Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02871:Igkv5-39'

362568

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv5-39

Ensembl Gene

ENSMUSG00000076569

Gene Name

immunoglobulin kappa variable 5-39

Synonyms

LOC384415

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

IGL02871

Quality Score

Status

Chromosome

Chromosomal Location

69877408-69877961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69877490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 89 (S89T)

Ref Sequence

ENSEMBL: ENSMUSP00000142521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103370] [ENSMUST00000197290]

AlphaFold

A0A075B5M7

Predicted Effect

probably benign
Transcript: ENSMUST00000103370
AA Change: S69T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100171
Gene: ENSMUSG00000076569
AA Change: S69T

Domain	Start	End	E-Value	Type
IGv	18	90	7.51e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197290
AA Change: S89T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000142521
Gene: ENSMUSG00000076569
AA Change: S89T

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	110	3e-19	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl15	C	A	13: 114,291,374 (GRCm39)	H179Q	probably benign	Het
Bin3	T	A	14: 70,366,354 (GRCm39)	C72*	probably null	Het
Brca2	C	T	5: 150,466,017 (GRCm39)	T1927I	probably benign	Het
Cap2	A	G	13: 46,678,968 (GRCm39)	D26G	probably benign	Het
Casz1	T	G	4: 149,028,776 (GRCm39)	S1074A	possibly damaging	Het
Chd5	C	T	4: 152,461,142 (GRCm39)	P1244L	probably damaging	Het
Exosc9	A	G	3: 36,619,430 (GRCm39)	N408S	probably benign	Het
Ezr	G	A	17: 7,009,789 (GRCm39)	Q352*	probably null	Het
Fbxl4	T	A	4: 22,386,213 (GRCm39)	D273E	probably benign	Het
Gm3269	A	T	14: 16,028,154 (GRCm39)	N193I	probably damaging	Het
Haus8	A	T	8: 71,709,138 (GRCm39)	M90K	probably benign	Het
Nlrp4b	A	C	7: 10,449,192 (GRCm39)	D465A	probably benign	Het
Nsf	A	G	11: 103,752,882 (GRCm39)		probably benign	Het
Nt5c1b	G	A	12: 10,431,325 (GRCm39)	M409I	probably damaging	Het
Or4a75	T	C	2: 89,448,504 (GRCm39)	I11V	probably benign	Het
Or4c103	T	A	2: 88,513,428 (GRCm39)	Y216F	probably damaging	Het
Or5ac17	T	A	16: 59,036,737 (GRCm39)	K80*	probably null	Het
Pga5	T	C	19: 10,649,144 (GRCm39)		probably benign	Het
Pigk	T	A	3: 152,472,153 (GRCm39)	I355K	probably damaging	Het
Prom1	T	C	5: 44,187,018 (GRCm39)	Y404C	probably damaging	Het
Ptprs	T	C	17: 56,754,443 (GRCm39)	E199G	probably damaging	Het
Sec24c	T	C	14: 20,742,950 (GRCm39)	S935P	probably benign	Het
Slc22a13	T	C	9: 119,025,077 (GRCm39)	T200A	probably benign	Het
Svep1	T	A	4: 58,100,871 (GRCm39)	I1264L	probably benign	Het
Tcf7l2	T	A	19: 55,907,429 (GRCm39)	C349S	probably damaging	Het
Thbs2	T	C	17: 14,906,048 (GRCm39)	H284R	probably benign	Het
Vmn2r19	C	T	6: 123,313,042 (GRCm39)	S704L	probably damaging	Het
Vmn2r50	A	G	7: 9,781,714 (GRCm39)	Y344H	possibly damaging	Het

Other mutations in Igkv5-39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01530:Igkv5-39	APN	6	69,877,459 (GRCm39)	missense	probably damaging	1.00
IGL01754:Igkv5-39	APN	6	69,877,661 (GRCm39)	missense	probably damaging	0.96
IGL02802:Igkv5-39	UTSW	6	69,877,457 (GRCm39)	missense	probably benign	0.42
R3843:Igkv5-39	UTSW	6	69,877,526 (GRCm39)	missense	probably damaging	1.00
R6328:Igkv5-39	UTSW	6	69,877,489 (GRCm39)	nonsense	probably null
R8132:Igkv5-39	UTSW	6	69,877,589 (GRCm39)	missense	probably damaging	0.99
R8296:Igkv5-39	UTSW	6	69,877,607 (GRCm39)	missense	probably benign	0.03
R8517:Igkv5-39	UTSW	6	69,877,553 (GRCm39)	missense	possibly damaging	0.95
R8765:Igkv5-39	UTSW	6	69,877,915 (GRCm39)	missense	probably benign	0.01

Posted On

2015-12-18