Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03212:Igkv4-79'

413324

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv4-79

Ensembl Gene

ENSMUSG00000076541

Gene Name

immunoglobulin kappa variable 4-79

Synonyms

LOC213684, IgVk ae4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL03212

Quality Score

Status

Chromosome

Chromosomal Location

69019956-69020489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 69020214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 34 (S34A)

Ref Sequence

ENSEMBL: ENSMUSP00000100143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103342]

AlphaFold

A0A075B5L8

Predicted Effect

probably benign
Transcript: ENSMUST00000103342
AA Change: S34A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000100143
Gene: ENSMUSG00000076541
AA Change: S34A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IGv	40	113	1.3e-21	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,242,085 (GRCm39)	S657P	probably benign	Het
Atp2c1	T	A	9: 105,322,466 (GRCm39)	N221I	probably damaging	Het
Atp5pd	G	T	11: 115,306,597 (GRCm39)	H155N	probably damaging	Het
Cd55b	A	T	1: 130,339,179 (GRCm39)	N316K	probably benign	Het
Celsr1	A	T	15: 85,814,878 (GRCm39)	M1861K	probably benign	Het
Cfap69	T	G	5: 5,707,849 (GRCm39)		probably null	Het
Col7a1	C	A	9: 108,803,520 (GRCm39)	P2169Q	unknown	Het
Cyp2j5	G	T	4: 96,552,055 (GRCm39)	H65N	probably damaging	Het
Dnah5	T	C	15: 28,290,309 (GRCm39)	V1233A	probably benign	Het
Fn1	A	T	1: 71,680,484 (GRCm39)	L407*	probably null	Het
Fpr-rs3	T	C	17: 20,844,121 (GRCm39)	D340G	probably benign	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Glmp	T	C	3: 88,235,664 (GRCm39)	S317P	probably benign	Het
Gm5581	A	T	6: 131,158,413 (GRCm39)		noncoding transcript	Het
Gm5624	A	T	14: 44,798,167 (GRCm39)	N103K	probably benign	Het
Gprin3	A	G	6: 59,332,013 (GRCm39)	F98S	probably benign	Het
Ighmbp2	A	G	19: 3,329,942 (GRCm39)	V104A	probably damaging	Het
Igsf10	G	A	3: 59,235,586 (GRCm39)	P1532S	probably benign	Het
Myt1l	A	G	12: 29,877,819 (GRCm39)	K490R	unknown	Het
Or5d46	T	A	2: 88,170,016 (GRCm39)	Y36N	probably damaging	Het
Pira13	T	A	7: 3,826,132 (GRCm39)	Q287L	probably benign	Het
Plxna1	T	A	6: 89,308,885 (GRCm39)	T1198S	probably damaging	Het
Pramel6	A	G	2: 87,340,769 (GRCm39)	D367G	probably damaging	Het
Rbm28	G	T	6: 29,131,274 (GRCm39)	R10S	probably damaging	Het
Rdh10	T	G	1: 16,178,051 (GRCm39)	C108G	probably benign	Het
Rfx7	C	A	9: 72,526,443 (GRCm39)	T1211K	probably benign	Het
Slc24a5	C	A	2: 124,922,750 (GRCm39)	T141N	probably damaging	Het
Smarca5	T	A	8: 81,438,410 (GRCm39)	N642I	possibly damaging	Het
Smchd1	C	A	17: 71,750,886 (GRCm39)	R344L	probably damaging	Het
Tmx3	T	A	18: 90,556,642 (GRCm39)	I355N	probably damaging	Het
Tram1l1	G	A	3: 124,115,563 (GRCm39)	G241D	possibly damaging	Het
Ubr4	A	G	4: 139,137,074 (GRCm39)	T982A	probably benign	Het
Vmn2r52	T	G	7: 9,893,474 (GRCm39)	H555P	possibly damaging	Het
Zbtb43	A	T	2: 33,344,286 (GRCm39)	M313K	probably benign	Het
Zfp942	A	T	17: 22,148,445 (GRCm39)	Y61*	probably null	Het

Other mutations in Igkv4-79

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Igkv4-79	APN	6	69,020,110 (GRCm39)	missense	probably damaging	0.96
R3954:Igkv4-79	UTSW	6	69,020,229 (GRCm39)	missense	possibly damaging	0.92
R5048:Igkv4-79	UTSW	6	69,019,971 (GRCm39)	missense	probably benign	0.00
R6834:Igkv4-79	UTSW	6	69,020,256 (GRCm39)	missense	probably damaging	0.99
R9795:Igkv4-79	UTSW	6	69,020,169 (GRCm39)	missense	probably damaging	0.99
Z1177:Igkv4-79	UTSW	6	69,020,043 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02