Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01150:Igkv12-89'

51396

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: 0.109) question?

Stock #

IGL01150

Quality Score

Status

Chromosome

Chromosomal Location

68811830-68812291 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68812127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 14 (V14A)

Ref Sequence

ENSEMBL: ENSMUSP00000143728 (fasta)

Gene Model

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

AlphaFold

A0A075B5L4

Predicted Effect

probably benign
Transcript: ENSMUST00000103335

SMART Domains

Protein: ENSMUSP00000100136
Gene: ENSMUSG00000076534

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199143
AA Change: V14A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143728
Gene: ENSMUSG00000076534
AA Change: V14A

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,752,550 (GRCm39)	D507G	possibly damaging	Het
Actl6a	A	G	3: 32,766,313 (GRCm39)	I60V	probably benign	Het
Adra2c	T	C	5: 35,438,485 (GRCm39)	F419S	probably damaging	Het
Afap1l2	T	C	19: 56,918,618 (GRCm39)	Y105C	probably damaging	Het
Arid4b	C	T	13: 14,369,959 (GRCm39)	Q1152*	probably null	Het
Arsj	A	G	3: 126,232,433 (GRCm39)	D393G	probably benign	Het
Avp	T	C	2: 130,422,593 (GRCm39)		probably benign	Het
Cacna2d3	C	T	14: 28,905,598 (GRCm39)	V390I	possibly damaging	Het
Ccdc25	T	A	14: 66,097,651 (GRCm39)	M195K	possibly damaging	Het
Cdhr2	T	A	13: 54,878,931 (GRCm39)	S979T	probably benign	Het
Cog2	T	C	8: 125,269,630 (GRCm39)	F390S	possibly damaging	Het
Dennd5b	A	G	6: 148,969,583 (GRCm39)	V290A	probably benign	Het
Ebf1	T	C	11: 44,759,927 (GRCm39)	L188P	probably damaging	Het
Galt	T	C	4: 41,757,786 (GRCm39)		probably benign	Het
Gm12830	C	T	4: 114,702,261 (GRCm39)	T141I	unknown	Het
Herc2	T	A	7: 55,830,881 (GRCm39)	W2965R	probably damaging	Het
Hrg	A	G	16: 22,777,909 (GRCm39)		probably null	Het
Ighv8-5	T	C	12: 115,031,194 (GRCm39)	Y115C	probably damaging	Het
Nav2	A	C	7: 49,102,269 (GRCm39)	T295P	probably benign	Het
Niban1	T	C	1: 151,593,472 (GRCm39)	V719A	probably benign	Het
Nrg1	G	A	8: 32,407,903 (GRCm39)	T110I	probably damaging	Het
Or4c31	T	C	2: 88,292,419 (GRCm39)	V264A	possibly damaging	Het
Or51h1	A	C	7: 102,308,699 (GRCm39)	K224Q	probably benign	Het
Or7g29	A	T	9: 19,286,535 (GRCm39)	I214N	probably damaging	Het
Pclo	T	C	5: 14,726,926 (GRCm39)		probably benign	Het
Polg2	T	C	11: 106,668,258 (GRCm39)		probably null	Het
Ptges	G	T	2: 30,782,720 (GRCm39)	R111S	probably damaging	Het
Rbbp4	T	C	4: 129,216,668 (GRCm39)		probably benign	Het
Rundc3a	T	C	11: 102,284,602 (GRCm39)	V34A	probably benign	Het
Scn3a	C	A	2: 65,327,709 (GRCm39)		probably null	Het
Sec14l3	T	C	11: 4,026,238 (GRCm39)		probably benign	Het
Strip1	C	T	3: 107,534,047 (GRCm39)		probably null	Het
Svep1	T	A	4: 58,070,302 (GRCm39)	I2495F	probably benign	Het
Syne1	A	G	10: 5,393,154 (GRCm39)	S71P	probably damaging	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tmem161b	C	T	13: 84,440,526 (GRCm39)	R133*	probably null	Het
Tnnc2	A	T	2: 164,619,753 (GRCm39)	I71N	probably damaging	Het
Vps13d	T	C	4: 144,875,845 (GRCm39)	N1554S	probably benign	Het
Wfdc3	A	T	2: 164,574,123 (GRCm39)		probably benign	Het
Zfp648	A	T	1: 154,081,110 (GRCm39)	H423L	probably damaging	Het

Other mutations in Igkv12-89

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01713:Igkv12-89	APN	6	68,812,296 (GRCm39)	unclassified	probably benign
IGL02364:Igkv12-89	APN	6	68,811,970 (GRCm39)	nonsense	probably null
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

2013-06-21