Mutagenetix > Incidental Mutation

Incidental Mutation 'R6359:Igkv13-84'

514187

Institutional Source

Beutler Lab

Gene Symbol

Igkv13-84

Ensembl Gene

ENSMUSG00000076538

Gene Name

immunoglobulin kappa chain variable 13-84

Synonyms

Igk-V33

MMRRC Submission

044509-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R6359 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68916586-68917051 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 68916592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 3 (F3V)

Ref Sequence

ENSEMBL: ENSMUSP00000100140 (fasta)

Gene Model

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

AlphaFold

A0A140T8N3

Predicted Effect

probably benign
Transcript: ENSMUST00000103339
AA Change: F3V

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

SMART Domains

Protein: ENSMUSP00000100140
Gene: ENSMUSG00000076538
AA Change: F3V

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: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic5	A	T	3: 81,911,803 (GRCm39)	D133V	possibly damaging	Het
Atp11b	A	G	3: 35,832,210 (GRCm39)	I22V	probably benign	Het
Ccdc18	C	T	5: 108,283,391 (GRCm39)	T34I	probably damaging	Het
Ces2a	A	G	8: 105,462,710 (GRCm39)	I100V	probably benign	Het
Ddi2	T	A	4: 141,411,899 (GRCm39)	T338S	probably damaging	Het
Dync1li1	A	G	9: 114,542,638 (GRCm39)	I267V	probably benign	Het
Eif1ad14	G	A	12: 87,886,275 (GRCm39)	T118M	probably benign	Het
Fbxo10	A	T	4: 45,041,796 (GRCm39)	V637E	possibly damaging	Het
Gak	T	C	5: 108,719,766 (GRCm39)	E458G	probably damaging	Het
Glp1r	G	T	17: 31,148,946 (GRCm39)	V287F	probably damaging	Het
Gsdmc2	T	C	15: 63,696,866 (GRCm39)	E435G	probably damaging	Het
Hsd11b1	T	A	1: 192,924,660 (GRCm39)		probably benign	Het
Igsf9b	C	A	9: 27,220,895 (GRCm39)	A87E	probably benign	Het
Ints1	G	T	5: 139,741,972 (GRCm39)	L1796I	probably benign	Het
Ipo8	A	G	6: 148,678,748 (GRCm39)	L950P	probably benign	Het
Lama5	T	C	2: 179,837,775 (GRCm39)	D931G	probably benign	Het
Lamb1	A	G	12: 31,332,715 (GRCm39)	E327G	probably damaging	Het
Lrp1b	T	C	2: 41,185,608 (GRCm39)	Y1369C	probably damaging	Het
Mapk3	A	G	7: 126,359,928 (GRCm39)	T67A	probably benign	Het
Mrpl4	T	A	9: 20,919,030 (GRCm39)	V225E	probably damaging	Het
Ncln	C	T	10: 81,326,118 (GRCm39)	G278S	probably damaging	Het
Nlrp3	G	A	11: 59,439,392 (GRCm39)	R323Q	probably damaging	Het
Nol8	A	G	13: 49,817,546 (GRCm39)	D774G	probably benign	Het
Or11i1	A	T	3: 106,729,731 (GRCm39)	I48N	probably damaging	Het
Or52p1	T	C	7: 104,267,510 (GRCm39)	V208A	probably damaging	Het
Plekha8	G	T	6: 54,590,104 (GRCm39)	C23F	probably damaging	Het
Prkag1	T	C	15: 98,712,433 (GRCm39)	Y133C	probably damaging	Het
Spata31d1a	A	G	13: 59,850,920 (GRCm39)	S403P	probably benign	Het
Spata31d1c	A	T	13: 65,183,406 (GRCm39)	N316I	possibly damaging	Het
Tmem30c	A	T	16: 57,096,513 (GRCm39)	S203T	probably benign	Het
Ttn	T	G	2: 76,569,300 (GRCm39)	N18871H	possibly damaging	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
R4347:Igkv13-84	UTSW	6	68,916,760 (GRCm39)	missense	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
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'- TCTGGTCTGATTTGGGACAC -3'
(R):5'- AATGGTGACTCTGTCTCCTAGAG -3'

Sequencing Primer
(F):5'- TCTGATTTGGGACACCTGGACAC -3'
(R):5'- GTGACTCTGTCTCCTAGAGATACAG -3'

Posted On

2018-04-27