Mutagenetix > Incidental Mutation

Incidental Mutation 'R6396:Igkv10-96'

515997

Institutional Source

Beutler Lab

Gene Symbol

Igkv10-96

Ensembl Gene

ENSMUSG00000094420

Gene Name

immunoglobulin kappa variable 10-96

Synonyms

Gm16637

MMRRC Submission

044544-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R6396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68608949-68609414 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 68608969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 109 (Q109*)

Ref Sequence

ENSEMBL: ENSMUSP00000100129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103328]

AlphaFold

A0A140T8M1

Predicted Effect

probably null
Transcript: ENSMUST00000103328
AA Change: Q109*

SMART Domains

Protein: ENSMUSP00000100129
Gene: ENSMUSG00000094420
AA Change: Q109*

Domain	Start	End	E-Value	Type
low complexity region	8	13	N/A	INTRINSIC
IGv	38	110	1.94e-19	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 97.9%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap35	A	T	7: 16,296,224 (GRCm39)	I947K	probably damaging	Het
B3galnt2	A	T	13: 14,170,333 (GRCm39)	I447F	probably damaging	Het
Cacna2d3	C	A	14: 29,118,522 (GRCm39)	V134L	probably benign	Het
Clcn4	C	T	7: 7,297,024 (GRCm39)	G145S	probably damaging	Het
Cndp1	A	T	18: 84,650,135 (GRCm39)	M186K	probably benign	Het
Cntn6	A	G	6: 104,627,461 (GRCm39)	Y98C	probably damaging	Het
Ctsb	T	C	14: 63,375,550 (GRCm39)	V172A	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dyrk1a	C	A	16: 94,472,299 (GRCm39)	Q230K	probably damaging	Het
Ech1	C	T	7: 28,529,763 (GRCm39)		probably null	Het
Fam81b	T	A	13: 76,399,968 (GRCm39)	R97W	probably damaging	Het
Heatr1	A	G	13: 12,420,978 (GRCm39)	E423G	possibly damaging	Het
Hydin	A	T	8: 111,233,521 (GRCm39)	K1786N	probably damaging	Het
Igf2r	T	C	17: 12,932,977 (GRCm39)	I848M	probably benign	Het
Mup6	T	C	4: 60,004,837 (GRCm39)	I76T	possibly damaging	Het
Nmt2	A	G	2: 3,315,738 (GRCm39)	R243G	probably benign	Het
Nsd1	G	A	13: 55,386,602 (GRCm39)	G119D	probably damaging	Het
Or1ad8	A	G	11: 50,898,312 (GRCm39)	H171R	possibly damaging	Het
Or4c113	A	G	2: 88,885,641 (GRCm39)	I43T	probably benign	Het
Or4c120	T	G	2: 89,001,034 (GRCm39)	D174A	probably damaging	Het
Or51ab3	C	T	7: 103,201,888 (GRCm39)	Q299*	probably null	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pank3	T	C	11: 35,669,516 (GRCm39)	V250A	probably damaging	Het
Pcdh10	A	G	3: 45,334,495 (GRCm39)	I270V	possibly damaging	Het
Pnp2	T	A	14: 51,200,616 (GRCm39)	V94E	probably damaging	Het
Prdm10	T	C	9: 31,229,842 (GRCm39)	V86A	possibly damaging	Het
Resf1	A	G	6: 149,229,417 (GRCm39)	D821G	probably damaging	Het
Riox1	G	A	12: 83,998,087 (GRCm39)	D208N	possibly damaging	Het
Rrp15	A	G	1: 186,469,783 (GRCm39)		probably null	Het
Skor1	G	T	9: 63,052,232 (GRCm39)	P579Q	probably damaging	Het
Slc44a4	T	A	17: 35,147,860 (GRCm39)	Y481*	probably null	Het
Smg7	A	T	1: 152,724,351 (GRCm39)	V610E	probably benign	Het
Tlx1	A	G	19: 45,144,491 (GRCm39)	Q71R	probably damaging	Het
Vmn2r27	A	T	6: 124,201,125 (GRCm39)	Y277*	probably null	Het
Zswim2	T	A	2: 83,754,062 (GRCm39)	R199S	probably damaging	Het

Other mutations in Igkv10-96

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01456:Igkv10-96	APN	6	68,609,086 (GRCm39)	missense	probably benign	0.04
R1555:Igkv10-96	UTSW	6	68,609,365 (GRCm39)	critical splice donor site	probably benign
R4347:Igkv10-96	UTSW	6	68,609,164 (GRCm39)	missense	probably benign	0.10
R5229:Igkv10-96	UTSW	6	68,609,223 (GRCm39)	missense	possibly damaging	0.88
R6623:Igkv10-96	UTSW	6	68,609,158 (GRCm39)	missense	probably damaging	0.97
R7183:Igkv10-96	UTSW	6	68,609,200 (GRCm39)	missense	probably benign	0.39
R7194:Igkv10-96	UTSW	6	68,609,028 (GRCm39)	missense	possibly damaging	0.80
R7866:Igkv10-96	UTSW	6	68,609,025 (GRCm39)	missense	possibly damaging	0.95
R8325:Igkv10-96	UTSW	6	68,609,088 (GRCm39)	missense	possibly damaging	0.93
R9669:Igkv10-96	UTSW	6	68,608,957 (GRCm39)	missense	probably benign	0.00
R9678:Igkv10-96	UTSW	6	68,609,224 (GRCm39)	missense	probably benign	0.05
R9737:Igkv10-96	UTSW	6	68,608,957 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGCATTGGTACTCATGAAGGG -3'
(R):5'- GGGCAAGTCAGGACATTAGC -3'

Sequencing Primer
(F):5'- TGTTTAGCCCCTCCTACCAAAAC -3'
(R):5'- GCAATTATTTAAACTGGTATCAGCAG -3'

Posted On

2018-05-04