Mutagenetix > Incidental Mutation

Incidental Mutation 'R4346:Igkv8-28'

470024

Institutional Source

Beutler Lab

Gene Symbol

Igkv8-28

Ensembl Gene

ENSMUSG00000094356

Gene Name

immunoglobulin kappa variable 8-28

Synonyms

ENSMUSG00000073023

MMRRC Submission

041667-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R4346 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70120577-70121145 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

C to T at 70121096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103380] [ENSMUST00000197525]

AlphaFold

A0A075B5N3

Predicted Effect

probably benign
Transcript: ENSMUST00000103380

SMART Domains

Protein: ENSMUSP00000100181
Gene: ENSMUSG00000094356

Domain	Start	End	E-Value	Type
IGv	18	96	9.98e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000103905

Predicted Effect

probably benign
Transcript: ENSMUST00000197525

SMART Domains

Protein: ENSMUSP00000142628
Gene: ENSMUSG00000094356

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	116	4e-24	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (31/31)

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	G	A	2: 154,887,651 (GRCm39)	R37Q	probably benign	Het
Adam12	T	C	7: 133,583,264 (GRCm39)	T128A	possibly damaging	Het
Dnah8	A	T	17: 30,944,072 (GRCm39)	Q1763L	possibly damaging	Het
Dvl3	G	A	16: 20,350,049 (GRCm39)	R645H	possibly damaging	Het
Egflam	A	T	15: 7,263,759 (GRCm39)	C730*	probably null	Het
Fbxo40	T	C	16: 36,790,525 (GRCm39)	E195G	probably benign	Het
Frmd4a	T	C	2: 4,612,844 (GRCm39)	S1025P	possibly damaging	Het
Gba2	A	G	4: 43,571,337 (GRCm39)	V204A	probably benign	Het
Lef1	T	C	3: 130,988,357 (GRCm39)	M308T	probably damaging	Het
Map1a	A	G	2: 121,131,806 (GRCm39)	N874S	probably benign	Het
Med12l	A	T	3: 58,938,976 (GRCm39)	T37S	probably damaging	Het
Ogfod2	A	G	5: 124,251,357 (GRCm39)	Y57C	probably damaging	Het
Or5b94	A	G	19: 12,651,592 (GRCm39)	T8A	probably benign	Het
Plxnd1	A	G	6: 115,954,941 (GRCm39)	V607A	probably benign	Het
Pnpt1	A	G	11: 29,095,478 (GRCm39)	D409G	probably damaging	Het
Pycr3	G	A	15: 75,790,580 (GRCm39)	T93I	probably damaging	Het
Ros1	A	G	10: 52,044,705 (GRCm39)	Y201H	possibly damaging	Het
Scart2	G	A	7: 139,827,878 (GRCm39)	V29M	probably damaging	Het
Slc25a54	A	G	3: 109,010,055 (GRCm39)	T185A	possibly damaging	Het
Smarcc2	A	G	10: 128,304,692 (GRCm39)	I221V	probably benign	Het
Tnfrsf19	C	A	14: 61,209,429 (GRCm39)		probably null	Het
Ttll11	T	C	2: 35,674,130 (GRCm39)	N599S	probably benign	Het
Ttn	T	G	2: 76,638,926 (GRCm39)	I13919L	probably damaging	Het
Vmn2r63	A	G	7: 42,577,537 (GRCm39)	F334L	possibly damaging	Het
Vps13d	A	G	4: 144,799,099 (GRCm39)		probably benign	Het
Zfp646	A	G	7: 127,478,681 (GRCm39)	Y286C	probably damaging	Het

Other mutations in Igkv8-28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4583:Igkv8-28	UTSW	6	70,120,604 (GRCm39)	missense	probably damaging	0.99
R4776:Igkv8-28	UTSW	6	70,121,102 (GRCm39)	missense	probably benign	0.02
R5747:Igkv8-28	UTSW	6	70,121,141 (GRCm39)	missense	probably benign
R5839:Igkv8-28	UTSW	6	70,121,145 (GRCm39)	start codon destroyed	probably benign	0.13
R6052:Igkv8-28	UTSW	6	70,120,673 (GRCm39)	missense	probably damaging	1.00
R6261:Igkv8-28	UTSW	6	70,120,874 (GRCm39)	missense	probably benign	0.03
R8956:Igkv8-28	UTSW	6	70,121,109 (GRCm39)	missense	probably benign
R9467:Igkv8-28	UTSW	6	70,120,691 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-03-06