Mutagenetix > Incidental Mutation

Incidental Mutation 'R5231:Igkv2-109'

398514

Institutional Source

Beutler Lab

Gene Symbol

Igkv2-109

Ensembl Gene

ENSMUSG00000105606

Gene Name

immunoglobulin kappa variable 2-109

Synonyms

ENSMUSG00000060986

MMRRC Submission

042803-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R5231 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68279423-68280142 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68279429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 3 (F3I)

Ref Sequence

ENSEMBL: ENSMUSP00000100123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103322]

AlphaFold

A0A075B5K6

Predicted Effect

probably benign
Transcript: ENSMUST00000103322
AA Change: F3I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000100123
Gene: ENSMUSG00000105606
AA Change: F3I

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	115	6.84e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197986

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat3	T	C	10: 80,442,260 (GRCm39)	S33P	possibly damaging	Het
Bche	G	A	3: 73,608,194 (GRCm39)	P411S	probably benign	Het
Chil3	A	G	3: 106,063,045 (GRCm39)	S182P	probably damaging	Het
Col6a4	T	C	9: 105,902,730 (GRCm39)	E1653G	probably damaging	Het
Csk	G	T	9: 57,537,661 (GRCm39)	H84Q	probably damaging	Het
Csmd2	A	G	4: 128,439,842 (GRCm39)	T3099A	probably benign	Het
Deup1	G	T	9: 15,486,495 (GRCm39)	A395E	probably damaging	Het
Frem2	T	C	3: 53,429,716 (GRCm39)	Y2778C	probably damaging	Het
Igfn1	T	C	1: 135,894,474 (GRCm39)	T2031A	probably benign	Het
Ighv1-53	C	A	12: 115,122,225 (GRCm39)	S50I	probably benign	Het
Ighv1-62-3	A	T	12: 115,424,671 (GRCm39)	M100K	possibly damaging	Het
Isl1	T	C	13: 116,438,193 (GRCm39)	D296G	probably benign	Het
Klk1b16	T	A	7: 43,786,771 (GRCm39)	L10Q	probably damaging	Het
Kmt2c	A	T	5: 25,520,471 (GRCm39)	S1880T	possibly damaging	Het
Lhcgr	T	A	17: 89,063,039 (GRCm39)	N211I	probably damaging	Het
Ltb	C	T	17: 35,414,802 (GRCm39)	L201F	probably damaging	Het
Mfsd2a	A	G	4: 122,853,094 (GRCm39)	F64S	possibly damaging	Het
Mmp10	T	C	9: 7,502,501 (GRCm39)		probably null	Het
Mycbp2	A	C	14: 103,583,650 (GRCm39)		probably null	Het
Or1e34	C	A	11: 73,778,781 (GRCm39)	C139F	probably damaging	Het
Or52e2	A	T	7: 102,804,175 (GRCm39)	F260I	probably damaging	Het
Or5k17	T	C	16: 58,746,077 (GRCm39)	I286V	possibly damaging	Het
Or9i14	A	T	19: 13,792,711 (GRCm39)	I81N	probably damaging	Het
Peg10	C	T	6: 4,756,939 (GRCm39)		probably benign	Het
Plscr1	C	A	9: 92,148,784 (GRCm39)	P208H	probably damaging	Het
Rhot1	T	C	11: 80,118,160 (GRCm39)		probably null	Het
Rpl15-ps6	T	C	15: 52,341,440 (GRCm39)		noncoding transcript	Het
Smarcc2	T	C	10: 128,297,221 (GRCm39)	Y38H	probably damaging	Het
Spata31e2	T	A	1: 26,723,032 (GRCm39)	H716L	possibly damaging	Het
Stat2	T	C	10: 128,117,111 (GRCm39)		probably null	Het
Trip11	T	C	12: 101,851,860 (GRCm39)	K735E	probably damaging	Het
Ttll1	T	A	15: 83,373,667 (GRCm39)		probably null	Het
Vmn2r37	C	A	7: 9,209,594 (GRCm39)	L639F	possibly damaging	Het
Vmn2r60	A	T	7: 41,786,448 (GRCm39)	Q417L	possibly damaging	Het
Vps8	A	T	16: 21,395,475 (GRCm39)	D1255V	probably damaging	Het
Zfp354b	A	C	11: 50,813,917 (GRCm39)	I336S	probably benign	Het
Zfp747l1	T	C	7: 126,984,586 (GRCm39)	Y172C	probably damaging	Het

Other mutations in Igkv2-109

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Igkv2-109	APN	6	68,280,054 (GRCm39)	missense	probably benign	0.26
IGL03285:Igkv2-109	APN	6	68,279,902 (GRCm39)	missense	probably damaging	1.00
R4510:Igkv2-109	UTSW	6	68,279,962 (GRCm39)	missense	probably damaging	1.00
R4511:Igkv2-109	UTSW	6	68,279,962 (GRCm39)	missense	probably damaging	1.00
R5113:Igkv2-109	UTSW	6	68,280,069 (GRCm39)	missense	possibly damaging	0.85
R5933:Igkv2-109	UTSW	6	68,279,965 (GRCm39)	missense	possibly damaging	0.89
R8164:Igkv2-109	UTSW	6	68,279,853 (GRCm39)	missense	probably damaging	0.97
R8965:Igkv2-109	UTSW	6	68,280,112 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGTGGAATTCATCTGCCC -3'
(R):5'- ACCTCACAAGTCCTTTACTGG -3'

Sequencing Primer
(F):5'- CCCTAATATTGGCAGTGAGGAC -3'
(R):5'- TCACAAGTCCTTTACTGGAGAAC -3'

Posted On

2016-07-06