Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01838:Igkv8-21'

155018

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv8-21

Ensembl Gene

ENSMUSG00000076586

Gene Name

immunoglobulin kappa variable 8-21

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL01838

Quality Score

Status

Chromosome

Chromosomal Location

70291879-70292436 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70292009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 78 (S78P)

Ref Sequence

ENSEMBL: ENSMUSP00000100188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103387]

AlphaFold

A0A140T8P7

Predicted Effect

probably damaging
Transcript: ENSMUST00000103387
AA Change: S78P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100188
Gene: ENSMUSG00000076586
AA Change: S78P

Domain	Start	End	E-Value	Type
IGv	38	116	6.58e-22	SMART

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
Akr1c6	T	C	13: 4,499,035 (GRCm39)	S208P	probably benign	Het
Cpe	G	T	8: 65,047,998 (GRCm39)	T422K	possibly damaging	Het
Dis3l	C	A	9: 64,215,581 (GRCm39)	V888L	probably benign	Het
Dnah7b	T	A	1: 46,397,297 (GRCm39)	Y3909*	probably null	Het
Dnajb8	G	A	6: 88,200,033 (GRCm39)	V190M	possibly damaging	Het
Grip2	A	G	6: 91,741,744 (GRCm39)	V927A	possibly damaging	Het
Hyal3	C	T	9: 107,463,786 (GRCm39)	R304C	possibly damaging	Het
Lrrc7	A	G	3: 157,891,100 (GRCm39)	S356P	probably damaging	Het
Meiob	T	C	17: 25,042,643 (GRCm39)	V157A	possibly damaging	Het
Mrpl48	C	T	7: 100,201,860 (GRCm39)	V35M	probably damaging	Het
Myo9b	T	C	8: 71,787,034 (GRCm39)	Y739H	probably damaging	Het
Nfyb	A	G	10: 82,586,642 (GRCm39)	L174S	probably benign	Het
Prm2	T	C	16: 10,609,672 (GRCm39)		probably benign	Het
Prss50	T	C	9: 110,693,560 (GRCm39)	L432P	probably benign	Het
Raly	T	A	2: 154,701,590 (GRCm39)		probably benign	Het
Scn11a	A	T	9: 119,587,649 (GRCm39)	M1365K	probably damaging	Het
Slc28a2b	C	A	2: 122,348,464 (GRCm39)	F270L	possibly damaging	Het
Spred1	T	G	2: 117,008,062 (GRCm39)	S323A	probably benign	Het
Svep1	T	C	4: 58,121,910 (GRCm39)	E761G	possibly damaging	Het
Thbs3	A	T	3: 89,126,365 (GRCm39)	K229*	probably null	Het
Thoc1	G	A	18: 9,993,386 (GRCm39)	G582S	possibly damaging	Het
Tmpo	G	A	10: 90,999,104 (GRCm39)	R228C	probably benign	Het
Vmn2r114	T	C	17: 23,515,956 (GRCm39)	T512A	probably benign	Het
Wee1	T	C	7: 109,723,744 (GRCm39)	S220P	probably benign	Het

Other mutations in Igkv8-21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01388:Igkv8-21	APN	6	70,292,153 (GRCm39)	missense	probably benign	0.18
R4246:Igkv8-21	UTSW	6	70,292,436 (GRCm39)	start codon destroyed	possibly damaging	0.75
R4614:Igkv8-21	UTSW	6	70,292,141 (GRCm39)	missense	probably benign	0.05
R4616:Igkv8-21	UTSW	6	70,292,141 (GRCm39)	missense	probably benign	0.05
R4825:Igkv8-21	UTSW	6	70,292,410 (GRCm39)	missense	probably benign
R5066:Igkv8-21	UTSW	6	70,292,427 (GRCm39)	nonsense	probably null
R5758:Igkv8-21	UTSW	6	70,292,009 (GRCm39)	missense	possibly damaging	0.81

Posted On

2014-02-04