Mutagenetix > Incidental Mutation

Incidental Mutation 'R4347:Igkv13-84'

328366

Institutional Source

Beutler Lab

Gene Symbol

Igkv13-84

Ensembl Gene

ENSMUSG00000076538

Gene Name

immunoglobulin kappa chain variable 13-84

Synonyms

Igk-V33

MMRRC Submission

041102-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R4347 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68916586-68917051 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68916760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 19 (I19K)

Ref Sequence

ENSEMBL: ENSMUSP00000100140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103339]

AlphaFold

A0A140T8N3

Predicted Effect

probably benign
Transcript: ENSMUST00000103339
AA Change: I19K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100140
Gene: ENSMUSG00000076538
AA Change: I19K

Domain	Start	End	E-Value	Type
low complexity region	27	34	N/A	INTRINSIC
IGv	38	110	2.55e-19	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	C	T	11: 3,840,122 (GRCm39)	V92M	probably damaging	Het
4930503E14Rik	C	A	14: 44,408,635 (GRCm39)	R66S	probably damaging	Het
Abca5	A	T	11: 110,190,794 (GRCm39)	I772N	probably damaging	Het
Acox1	T	C	11: 116,089,487 (GRCm39)	N15S	probably benign	Het
Arhgap28	C	T	17: 68,180,137 (GRCm39)	V233I	probably benign	Het
Chil4	T	C	3: 106,110,144 (GRCm39)	I317V	probably benign	Het
Dvl3	G	A	16: 20,350,049 (GRCm39)	R645H	possibly damaging	Het
Efl1	A	T	7: 82,347,174 (GRCm39)	M567L	probably damaging	Het
Gal3st2b	C	T	1: 93,867,530 (GRCm39)	T59I	probably damaging	Het
Gm7135	T	A	1: 97,276,035 (GRCm39)		noncoding transcript	Het
Gpihbp1	T	G	15: 75,470,017 (GRCm39)	*124G	probably null	Het
Igkv10-96	T	A	6: 68,609,164 (GRCm39)	R44W	probably benign	Het
Kcnab1	A	G	3: 65,204,896 (GRCm39)		probably benign	Het
Kif1b	C	A	4: 149,331,691 (GRCm39)	G545C	probably damaging	Het
Mprip	T	C	11: 59,650,279 (GRCm39)	S1328P	possibly damaging	Het
Nrp1	T	C	8: 129,207,472 (GRCm39)		probably null	Het
Olfml1	C	T	7: 107,167,040 (GRCm39)	P23L	probably benign	Het
Plekhh2	G	A	17: 84,927,130 (GRCm39)	A1457T	probably benign	Het
Prr27	A	G	5: 87,990,531 (GRCm39)	I40V	possibly damaging	Het
Slc25a54	A	G	3: 109,010,055 (GRCm39)	T185A	possibly damaging	Het
Srek1	C	T	13: 103,885,267 (GRCm39)	G396D	probably null	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Trim3	C	T	7: 105,268,594 (GRCm39)	G120D	probably damaging	Het
Usp5	T	A	6: 124,798,158 (GRCm39)	Q409L	probably damaging	Het
Vim	T	G	2: 13,580,329 (GRCm39)		probably benign	Het

Other mutations in Igkv13-84

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0699:Igkv13-84	UTSW	6	68,916,635 (GRCm39)	critical splice donor site	probably benign
R4621:Igkv13-84	UTSW	6	68,916,783 (GRCm39)	missense	possibly damaging	0.91
R4779:Igkv13-84	UTSW	6	68,916,894 (GRCm39)	missense	probably damaging	1.00
R5110:Igkv13-84	UTSW	6	68,916,592 (GRCm39)	missense	probably benign
R5251:Igkv13-84	UTSW	6	68,916,772 (GRCm39)	missense	probably benign	0.28
R6194:Igkv13-84	UTSW	6	68,916,916 (GRCm39)	missense	possibly damaging	0.95
R6359:Igkv13-84	UTSW	6	68,916,592 (GRCm39)	missense	probably benign
R6574:Igkv13-84	UTSW	6	68,916,977 (GRCm39)	nonsense	probably null
R7131:Igkv13-84	UTSW	6	68,916,764 (GRCm39)	nonsense	probably null
R7837:Igkv13-84	UTSW	6	68,916,793 (GRCm39)	missense	possibly damaging	0.60
R9210:Igkv13-84	UTSW	6	68,916,886 (GRCm39)	missense	probably damaging	0.99
Z1177:Igkv13-84	UTSW	6	68,916,844 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGTCAGGTCACAGCAGAAAC -3'
(R):5'- AGATCCACTGCCACTGAATC -3'

Sequencing Primer
(F):5'- TCAGGTCACAGCAGAAACATGAAG -3'
(R):5'- ACTGCCACTGAATCTTGAAGG -3'

Posted On

2015-07-07