Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02452:Igkv8-27'

293683

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv8-27

Ensembl Gene

ENSMUSG00000076580

Gene Name

immunoglobulin kappa chain variable 8-27

Synonyms

Gm16944

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL02452

Quality Score

Status

Chromosome

Chromosomal Location

70148793-70149254 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 70148925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 76 (W76*)

Ref Sequence

ENSEMBL: ENSMUSP00000142998 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103381] [ENSMUST00000197272]

AlphaFold

A0A075B5N4

Predicted Effect

probably null
Transcript: ENSMUST00000103381
AA Change: W56*

SMART Domains

Protein: ENSMUSP00000100182
Gene: ENSMUSG00000076580
AA Change: W56*

Domain	Start	End	E-Value	Type
IGv	18	96	1.51e-21	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000197272
AA Change: W76*

SMART Domains

Protein: ENSMUSP00000142998
Gene: ENSMUSG00000076580
AA Change: W76*

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	116	6.3e-24	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	C	A	3: 153,647,607 (GRCm39)	V11F	probably damaging	Het
Alk	A	T	17: 72,209,620 (GRCm39)	Y941*	probably null	Het
Blm	A	T	7: 80,153,125 (GRCm39)		probably null	Het
Blvrb	T	C	7: 27,158,765 (GRCm39)	V55A	possibly damaging	Het
Cdh23	T	A	10: 60,153,721 (GRCm39)	T2288S	probably damaging	Het
Csnk1g1	T	A	9: 65,915,067 (GRCm39)	M242K	probably damaging	Het
Cyp2c29	G	A	19: 39,279,291 (GRCm39)	G96D	possibly damaging	Het
Cyp2d26	T	A	15: 82,676,827 (GRCm39)	H173L	probably benign	Het
Cyp2g1	T	A	7: 26,510,871 (GRCm39)	S131T	probably benign	Het
Dusp29	G	A	14: 21,752,990 (GRCm39)	T52I	probably damaging	Het
Dzip3	T	A	16: 48,758,900 (GRCm39)		probably benign	Het
Espl1	T	C	15: 102,208,274 (GRCm39)	S427P	probably damaging	Het
Fasn	A	T	11: 120,699,006 (GRCm39)	D2424E	probably benign	Het
Flrt2	G	A	12: 95,746,257 (GRCm39)	M198I	probably benign	Het
Gen1	A	T	12: 11,292,576 (GRCm39)	S404R	probably benign	Het
Gm11596	A	T	11: 99,683,806 (GRCm39)	C105S	unknown	Het
Hdlbp	A	T	1: 93,345,233 (GRCm39)	V714D	probably damaging	Het
Igkv4-80	A	G	6: 68,993,816 (GRCm39)	V25A	probably benign	Het
Ikzf1	T	C	11: 11,698,545 (GRCm39)	L132P	probably damaging	Het
Kcna6	C	A	6: 126,715,443 (GRCm39)	C482F	possibly damaging	Het
Lhx9	A	T	1: 138,769,580 (GRCm39)	L47Q	probably damaging	Het
Lrp4	T	A	2: 91,304,347 (GRCm39)	D175E	probably damaging	Het
Lrrtm3	T	C	10: 63,923,815 (GRCm39)	K451E	probably damaging	Het
Mcm9	C	T	10: 53,417,653 (GRCm39)	V17M	probably damaging	Het
Mios	T	A	6: 8,222,492 (GRCm39)	S475R	probably benign	Het
Mmp24	C	T	2: 155,657,708 (GRCm39)	R533C	probably damaging	Het
Moxd1	C	T	10: 24,158,650 (GRCm39)	P435S	probably damaging	Het
Mta2	T	A	19: 8,927,670 (GRCm39)	I497N	probably benign	Het
Mtus2	T	C	5: 148,014,473 (GRCm39)	V422A	probably benign	Het
Ndufaf1	A	T	2: 119,486,907 (GRCm39)	F260Y	probably damaging	Het
Nfasc	C	T	1: 132,548,662 (GRCm39)		probably null	Het
Nid1	A	T	13: 13,683,305 (GRCm39)	T1128S	probably benign	Het
Odad2	C	T	18: 7,129,461 (GRCm39)	E906K	probably damaging	Het
Or51f1d	A	G	7: 102,701,138 (GRCm39)	D211G	probably benign	Het
Pcdh12	G	A	18: 38,414,746 (GRCm39)	P793L	probably benign	Het
Pclo	A	T	5: 14,726,980 (GRCm39)		probably benign	Het
Prpf31	T	A	7: 3,637,185 (GRCm39)	N161K	possibly damaging	Het
Prpf6	T	G	2: 181,290,878 (GRCm39)	N656K	probably benign	Het
Ptprn	T	A	1: 75,234,813 (GRCm39)	H258L	probably benign	Het
Rab19	A	G	6: 39,366,732 (GRCm39)	T216A	probably benign	Het
Ryr3	A	C	2: 112,664,335 (GRCm39)	L1652W	probably damaging	Het
Six2	A	C	17: 85,992,806 (GRCm39)	S232R	possibly damaging	Het
Spag17	T	C	3: 99,934,707 (GRCm39)	V663A	probably benign	Het
Spag5	A	G	11: 78,195,449 (GRCm39)	N252S	probably benign	Het
Spata31e4	A	T	13: 50,857,113 (GRCm39)	H917L	probably damaging	Het
Sptb	C	T	12: 76,655,810 (GRCm39)		probably null	Het
Synj1	A	G	16: 90,758,253 (GRCm39)		probably benign	Het
Tekt2	T	C	4: 126,218,645 (GRCm39)	H36R	possibly damaging	Het
Tjp1	A	T	7: 64,962,403 (GRCm39)	M1258K	probably damaging	Het
Txnrd3	T	C	6: 89,651,777 (GRCm39)	*502Q	probably null	Het

Other mutations in Igkv8-27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5717:Igkv8-27	UTSW	6	70,148,918 (GRCm39)	missense	probably benign	0.07
R6168:Igkv8-27	UTSW	6	70,148,880 (GRCm39)	missense	probably benign	0.44
R7563:Igkv8-27	UTSW	6	70,148,887 (GRCm39)	missense	probably benign	0.01
R7745:Igkv8-27	UTSW	6	70,148,999 (GRCm39)	missense	probably benign	0.12
R8446:Igkv8-27	UTSW	6	70,148,932 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16