Mutagenetix > Incidental Mutation

Incidental Mutation 'R6425:Igkv6-32'

518290

Institutional Source

Beutler Lab

Gene Symbol

Igkv6-32

Ensembl Gene

ENSMUSG00000076576

Gene Name

immunoglobulin kappa variable 6-32

Synonyms

ENSMUSG00000053690

MMRRC Submission

044564-MU

Accession Numbers

Essential gene?

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

Stock #

R6425 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70051008-70051568 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70051284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 24 (M24K)

Ref Sequence

ENSEMBL: ENSMUSP00000100178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103377]

AlphaFold

A0A140T8N9

Predicted Effect

probably damaging
Transcript: ENSMUST00000103377
AA Change: M24K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100178
Gene: ENSMUSG00000076576
AA Change: M24K

Domain	Start	End	E-Value	Type
IGv	38	110	9.68e-20	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,220,058 (GRCm39)	T3A	possibly damaging	Het
Ash1l	A	G	3: 88,891,087 (GRCm39)	T989A	probably damaging	Het
Atp6v0a2	T	A	5: 124,790,194 (GRCm39)	L459Q	probably damaging	Het
Atp6v0a4	A	T	6: 38,027,446 (GRCm39)	V788D	possibly damaging	Het
Auh	G	A	13: 52,995,080 (GRCm39)	R162C	probably damaging	Het
Begain	C	A	12: 108,999,320 (GRCm39)	G689C	probably damaging	Het
Brcc3dc	A	C	10: 108,535,757 (GRCm39)	M66R	possibly damaging	Het
Cd300lg	T	C	11: 101,937,749 (GRCm39)	F193S	probably benign	Het
Cenpf	T	G	1: 189,392,095 (GRCm39)	N579T	probably benign	Het
Cfap65	T	C	1: 74,966,868 (GRCm39)	H273R	probably benign	Het
Col6a6	T	C	9: 105,576,064 (GRCm39)	T2099A	probably benign	Het
Dock1	A	G	7: 134,765,110 (GRCm39)	K1701E	possibly damaging	Het
Dtl	T	C	1: 191,278,735 (GRCm39)	I376V	probably benign	Het
F830045P16Rik	C	A	2: 129,302,500 (GRCm39)	C364F	probably damaging	Het
Fancl	C	T	11: 26,349,680 (GRCm39)	L63F	probably damaging	Het
Gli2	A	T	1: 118,763,624 (GRCm39)	L1509*	probably null	Het
Glyr1	A	T	16: 4,854,350 (GRCm39)		probably null	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Klhl18	T	C	9: 110,275,749 (GRCm39)	E133G	possibly damaging	Het
Lgals4	A	T	7: 28,533,885 (GRCm39)	K20*	probably null	Het
Myo9b	A	G	8: 71,786,272 (GRCm39)	D646G	probably damaging	Het
Pcdhb3	T	C	18: 37,435,528 (GRCm39)	L498P	possibly damaging	Het
Pcdhgb4	T	C	18: 37,854,640 (GRCm39)	V345A	possibly damaging	Het
Pdc	T	C	1: 150,209,123 (GRCm39)	V202A	probably benign	Het
Pfas	T	C	11: 68,881,897 (GRCm39)	I929M	probably benign	Het
Plxna1	G	T	6: 89,311,647 (GRCm39)	R953S	probably benign	Het
Pnpla5	T	C	15: 84,006,836 (GRCm39)		probably null	Het
Psmd1	T	C	1: 85,998,350 (GRCm39)		probably null	Het
Rbm47	C	T	5: 66,180,159 (GRCm39)	G452S	probably damaging	Het
Reln	G	A	5: 22,116,018 (GRCm39)	Q2997*	probably null	Het
Rrn3	A	G	16: 13,629,465 (GRCm39)	T594A	probably benign	Het
Slc25a35	G	A	11: 68,859,591 (GRCm39)	A35T	possibly damaging	Het
Slc33a1	A	G	3: 63,871,484 (GRCm39)	V43A	probably benign	Het
Sorcs3	T	C	19: 48,752,746 (GRCm39)		probably null	Het
Tbk1	A	G	10: 121,399,867 (GRCm39)	M319T	probably benign	Het
Tmem132c	T	A	5: 127,630,329 (GRCm39)	M622K	possibly damaging	Het
Tshz1	A	T	18: 84,033,688 (GRCm39)	F240Y	probably damaging	Het
Ube2b	A	T	11: 51,882,244 (GRCm39)	L73*	probably null	Het
Vipas39	A	G	12: 87,288,063 (GRCm39)	V449A	probably damaging	Het
Zfp870	T	C	17: 33,102,045 (GRCm39)	N429S	possibly damaging	Het

Other mutations in Igkv6-32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01541:Igkv6-32	APN	6	70,051,290 (GRCm39)	missense	probably benign	0.01
IGL03183:Igkv6-32	APN	6	70,051,556 (GRCm39)	missense	probably benign	0.01
IGL03196:Igkv6-32	APN	6	70,051,042 (GRCm39)	missense	probably benign	0.01
R5068:Igkv6-32	UTSW	6	70,051,267 (GRCm39)	missense	possibly damaging	0.69
R5223:Igkv6-32	UTSW	6	70,051,207 (GRCm39)	missense	probably benign	0.00
R7664:Igkv6-32	UTSW	6	70,051,282 (GRCm39)	missense	probably damaging	1.00
R8070:Igkv6-32	UTSW	6	70,051,089 (GRCm39)	missense	probably damaging	1.00
R8093:Igkv6-32	UTSW	6	70,051,547 (GRCm39)	missense	probably benign	0.30
R8679:Igkv6-32	UTSW	6	70,051,063 (GRCm39)	missense	possibly damaging	0.65
Z1176:Igkv6-32	UTSW	6	70,051,570 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- ATCAGGGACTCCAGTGTAGC -3'
(R):5'- TGAAGTCACAGACCCAGGTC -3'

Sequencing Primer
(F):5'- GCGATTGGATGCATAGTATATCAGC -3'
(R):5'- GACCCAGGTCTTCGTATTTCTACTG -3'

Posted On

2018-05-24