Mutagenetix > Incidental Mutation

Incidental Mutation 'R5998:Igkv15-103'

480671

Institutional Source

Beutler Lab

Gene Symbol

Igkv15-103

Ensembl Gene

ENSMUSG00000076523

Gene Name

immunoglobulin kappa chain variable 15-103

Synonyms

Igk-V32

MMRRC Submission

044177-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R5998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68414452-68414909 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68414489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 13 (F13Y)

Ref Sequence

ENSEMBL: ENSMUSP00000100125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103324]

AlphaFold

A0A140T8P3

Predicted Effect

unknown
Transcript: ENSMUST00000103324
AA Change: F13Y

SMART Domains

Protein: ENSMUSP00000100125
Gene: ENSMUSG00000076523
AA Change: F13Y

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
IGv	38	110	1.51e-21	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,517,708 (GRCm39)	V4437I	probably damaging	Het
Acot12	T	C	13: 91,905,653 (GRCm39)	I71T	possibly damaging	Het
Adcy10	A	G	1: 165,369,218 (GRCm39)	I630V	probably benign	Het
Adcy3	T	A	12: 4,248,348 (GRCm39)	V470E	probably damaging	Het
Adcy6	C	A	15: 98,492,235 (GRCm39)	E1008*	probably null	Het
Adgrb3	A	T	1: 25,470,582 (GRCm39)		probably null	Het
Ahrr	T	A	13: 74,361,955 (GRCm39)	S515C	probably damaging	Het
Ankrd52	T	C	10: 128,218,992 (GRCm39)	I416T	probably damaging	Het
Arhgap45	T	C	10: 79,866,784 (GRCm39)	S1096P	probably damaging	Het
Atp8b4	A	G	2: 126,275,787 (GRCm39)		probably null	Het
Bcl6b	A	C	11: 70,119,009 (GRCm39)	I200M	probably damaging	Het
Btbd19	T	A	4: 116,978,196 (GRCm39)	E234V	probably benign	Het
Csmd1	G	A	8: 15,960,443 (GRCm39)	T3324I	probably damaging	Het
Cyp2a5	G	A	7: 26,536,578 (GRCm39)	V186I	probably benign	Het
Eif4a3l1	T	C	6: 136,305,622 (GRCm39)	F28L	probably benign	Het
Glb1l2	G	A	9: 26,677,299 (GRCm39)	T533I	possibly damaging	Het
Helz	G	T	11: 107,576,360 (GRCm39)	E1851*	probably null	Het
Kcnq2	T	C	2: 180,728,801 (GRCm39)	H548R	probably damaging	Het
Mcm3ap	T	C	10: 76,316,976 (GRCm39)		probably null	Het
Micall2	T	C	5: 139,692,666 (GRCm39)		probably null	Het
Mill2	A	G	7: 18,573,989 (GRCm39)	R25G	probably benign	Het
Mtcl1	G	A	17: 66,675,275 (GRCm39)	H1041Y	probably damaging	Het
Or5k16	T	C	16: 58,736,993 (GRCm39)	T4A	probably benign	Het
Or8d2b	G	A	9: 38,789,165 (GRCm39)	R231H	probably damaging	Het
Pigt	A	G	2: 164,349,374 (GRCm39)	E559G	possibly damaging	Het
Pkdrej	A	G	15: 85,699,654 (GRCm39)	V2094A	probably benign	Het
Prkdc	T	A	16: 15,601,021 (GRCm39)	L2894Q	probably damaging	Het
Saxo4	A	T	19: 10,458,716 (GRCm39)	W105R	possibly damaging	Het
Speer4a2	T	C	5: 26,289,704 (GRCm39)	D241G	probably damaging	Het
Tmem63b	A	G	17: 45,980,926 (GRCm39)	V256A	possibly damaging	Het
Zfp516	T	C	18: 82,974,639 (GRCm39)	L279P	probably damaging	Het
Zfp780b	T	A	7: 27,664,047 (GRCm39)	K169N	probably benign	Het

Other mutations in Igkv15-103

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02851:Igkv15-103	APN	6	68,414,674 (GRCm39)	missense	probably benign	0.13
R3957:Igkv15-103	UTSW	6	68,414,903 (GRCm39)	missense	probably benign	0.00
R4165:Igkv15-103	UTSW	6	68,414,824 (GRCm39)	nonsense	probably null
R4494:Igkv15-103	UTSW	6	68,414,780 (GRCm39)	missense	probably benign	0.02
R6356:Igkv15-103	UTSW	6	68,414,441 (GRCm39)	start gained	probably benign
R6610:Igkv15-103	UTSW	6	68,414,617 (GRCm39)	nonsense	probably null
R8823:Igkv15-103	UTSW	6	68,414,855 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCTAATACTGCAGGTGGCTC -3'
(R):5'- ATTAATGTTCTGACTGGCATGGC -3'

Sequencing Primer
(F):5'- CTAATACTGCAGGTGGCTCTAGTC -3'
(R):5'- TAATTGTGTCTCCAAGGGATGCAGAC -3'

Posted On

2017-06-26