Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02364:Igkv12-89'

290637

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv12-89

Ensembl Gene

ENSMUSG00000076534

Gene Name

immunoglobulin kappa chain variable 12-89

Synonyms

Gm16905

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL02364

Quality Score

Status

Chromosome

Chromosomal Location

68811830-68812291 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 68811970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 66 (Y66*)

Ref Sequence

ENSEMBL: ENSMUSP00000143728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103335] [ENSMUST00000199143]

AlphaFold

A0A075B5L4

Predicted Effect

probably null
Transcript: ENSMUST00000103335
AA Change: Y65*

SMART Domains

Protein: ENSMUSP00000100136
Gene: ENSMUSG00000076534
AA Change: Y65*

Domain	Start	End	E-Value	Type
IGv	34	106	2.62e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000199143
AA Change: Y66*

SMART Domains

Protein: ENSMUSP00000143728
Gene: ENSMUSG00000076534
AA Change: Y66*

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IGv	35	107	1.1e-18	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
Bdp1	A	T	13: 100,191,816 (GRCm39)		probably benign	Het
Car8	T	C	4: 8,183,321 (GRCm39)	I225V	probably benign	Het
Cc2d2a	T	A	5: 43,892,792 (GRCm39)	N1390K	probably damaging	Het
Coasy	T	C	11: 100,975,184 (GRCm39)	V247A	possibly damaging	Het
Dgkq	A	G	5: 108,804,310 (GRCm39)	V50A	probably benign	Het
Dixdc1	A	T	9: 50,593,931 (GRCm39)		probably benign	Het
Dmxl2	G	A	9: 54,301,127 (GRCm39)	A2328V	probably benign	Het
Exoc3l	C	A	8: 106,017,209 (GRCm39)	V593L	possibly damaging	Het
Eya3	T	C	4: 132,437,366 (GRCm39)	S409P	probably damaging	Het
Garin4	T	C	1: 190,895,713 (GRCm39)	N310S	probably benign	Het
Gbp4	A	T	5: 105,284,740 (GRCm39)	S50T	probably damaging	Het
Gm5885	A	G	6: 133,507,092 (GRCm39)		noncoding transcript	Het
H2ap	G	T	X: 9,713,629 (GRCm39)		probably benign	Het
Itgax	G	A	7: 127,739,154 (GRCm39)	V601M	possibly damaging	Het
Kank3	T	C	17: 34,037,824 (GRCm39)	V291A	probably benign	Het
Klhl9	A	G	4: 88,639,407 (GRCm39)	M278T	probably damaging	Het
Lrrc43	G	A	5: 123,639,275 (GRCm39)	D435N	possibly damaging	Het
Ly75	A	T	2: 60,188,851 (GRCm39)	S292T	probably damaging	Het
Mchr1	G	A	15: 81,121,480 (GRCm39)	V77I	probably benign	Het
Mga	T	A	2: 119,794,535 (GRCm39)	C2622S	possibly damaging	Het
Neb	G	T	2: 52,186,266 (GRCm39)	Y935*	probably null	Het
Nt5el	T	A	13: 105,218,808 (GRCm39)	D47E	probably damaging	Het
Phf20	A	G	2: 156,136,017 (GRCm39)	E612G	possibly damaging	Het
Pkhd1	A	G	1: 20,271,007 (GRCm39)	L3182P	probably benign	Het
Rnf130	T	C	11: 49,986,667 (GRCm39)	V337A	probably benign	Het
Slfn10-ps	T	C	11: 82,923,117 (GRCm39)		noncoding transcript	Het
Sorcs1	G	A	19: 50,322,036 (GRCm39)	P249L	probably damaging	Het
Spata13	C	T	14: 60,928,723 (GRCm39)	R94C	probably damaging	Het
Stk38	C	T	17: 29,210,390 (GRCm39)	R63Q	probably benign	Het
Tmem220	C	A	11: 66,925,014 (GRCm39)	H174N	probably benign	Het
Tmem68	C	A	4: 3,560,536 (GRCm39)	R216L	probably damaging	Het
Trim29	G	A	9: 43,222,599 (GRCm39)	V143M	probably benign	Het
Ubqln2	T	C	X: 152,282,906 (GRCm39)	L486P	possibly damaging	Het
Usp17le	G	A	7: 104,417,982 (GRCm39)	Q387*	probably null	Het
Vps33b	A	G	7: 79,937,587 (GRCm39)	E445G	probably damaging	Het

Other mutations in Igkv12-89

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01150:Igkv12-89	APN	6	68,812,127 (GRCm39)	missense	probably benign	0.00
IGL01713:Igkv12-89	APN	6	68,812,296 (GRCm39)	unclassified	probably benign
FR4449:Igkv12-89	UTSW	6	68,812,264 (GRCm39)	small insertion	probably benign
R7110:Igkv12-89	UTSW	6	68,812,115 (GRCm39)	missense	probably damaging	1.00
R7283:Igkv12-89	UTSW	6	68,812,061 (GRCm39)	missense	probably damaging	1.00
R7637:Igkv12-89	UTSW	6	68,812,083 (GRCm39)	missense	probably benign	0.26
RF014:Igkv12-89	UTSW	6	68,812,270 (GRCm39)	small insertion	probably benign
RF042:Igkv12-89	UTSW	6	68,812,270 (GRCm39)	small insertion	probably benign

Posted On

2015-04-16