Mutagenetix > Incidental Mutation

Incidental Mutation 'R6518:Igkv6-29'

520872

Institutional Source

Beutler Lab

Gene Symbol

Igkv6-29

Ensembl Gene

ENSMUSG00000076578

Gene Name

immunoglobulin kappa chain variable 6-29

Synonyms

Gm16692

MMRRC Submission

044645-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R6518 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70115446-70116066 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70115497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 99 (Q99L)

Ref Sequence

ENSEMBL: ENSMUSP00000142786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103379] [ENSMUST00000197371]

AlphaFold

A0A075B5N2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103379
AA Change: Q98L

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100180
Gene: ENSMUSG00000076578
AA Change: Q98L

Domain	Start	End	E-Value	Type
IGv	37	109	2.26e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000197371
AA Change: Q99L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142786
Gene: ENSMUSG00000076578
AA Change: Q99L

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	110	9.6e-23	SMART

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,123,608 (GRCm39)	D88G	probably damaging	Het
Abcc12	A	G	8: 87,235,718 (GRCm39)			Het
Angptl6	T	C	9: 20,786,656 (GRCm39)	H330R	probably damaging	Het
Asxl3	T	A	18: 22,649,397 (GRCm39)	V462E	probably damaging	Het
Atp13a2	G	C	4: 140,728,165 (GRCm39)	R503P	possibly damaging	Het
C1ra	T	A	6: 124,498,534 (GRCm39)		probably null	Het
C2	T	A	17: 35,083,094 (GRCm39)	I426F	probably damaging	Het
C4b	A	T	17: 34,953,179 (GRCm39)	Y1049N	probably damaging	Het
Cdkn1b	T	A	6: 134,898,283 (GRCm39)	M134K	probably benign	Het
Cenpn	A	G	8: 117,663,904 (GRCm39)	D145G	possibly damaging	Het
Ckap2	A	T	8: 22,663,319 (GRCm39)	I492K	probably benign	Het
Cog2	G	A	8: 125,253,842 (GRCm39)	W67*	probably null	Het
Col7a1	T	C	9: 108,784,595 (GRCm39)	F172L	unknown	Het
Dcaf1	T	C	9: 106,712,788 (GRCm39)	I112T	probably damaging	Het
Ddx4	T	C	13: 112,741,081 (GRCm39)	I518V	probably benign	Het
Dnah10	T	C	5: 124,835,419 (GRCm39)	L908P	probably damaging	Het
Dsg3	T	C	18: 20,666,479 (GRCm39)	Y563H	probably benign	Het
Gm16686	A	C	4: 88,673,725 (GRCm39)		probably benign	Het
Gpr139	A	T	7: 118,743,734 (GRCm39)	F284I	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Ice1	A	T	13: 70,754,428 (GRCm39)	F553I	possibly damaging	Het
Lipt1	A	G	1: 37,914,856 (GRCm39)	N304S	probably benign	Het
Lmo1	A	C	7: 108,742,783 (GRCm39)	L39R	probably damaging	Het
Mcc	T	A	18: 44,794,878 (GRCm39)		probably benign	Het
Mindy3	T	C	2: 12,386,940 (GRCm39)	T74A	probably damaging	Het
Obi1	A	T	14: 104,716,501 (GRCm39)	L624H	probably damaging	Het
Or11a4	G	T	17: 37,536,159 (GRCm39)	A48S	probably benign	Het
Or13j1	A	G	4: 43,706,334 (GRCm39)	V78A	probably benign	Het
Or4e5	T	C	14: 52,728,077 (GRCm39)	I115V	probably damaging	Het
Ormdl1	T	C	1: 53,348,116 (GRCm39)	Y153H	probably benign	Het
Pdzrn3	A	T	6: 101,127,475 (GRCm39)	*1064K	probably null	Het
Pias1	A	G	9: 62,859,142 (GRCm39)	L113P	probably damaging	Het
Piezo2	A	T	18: 63,239,342 (GRCm39)	I514N	probably damaging	Het
Prkd1	T	C	12: 50,472,278 (GRCm39)	T212A	probably benign	Het
Rsph10b	A	G	5: 143,900,691 (GRCm39)	Y151C	probably damaging	Het
Samhd1	G	A	2: 156,956,217 (GRCm39)	T325M	possibly damaging	Het
Seh1l	A	G	18: 67,922,519 (GRCm39)	T291A	probably damaging	Het
Smim24	A	G	10: 81,229,695 (GRCm39)	M1V	probably null	Het
Sp140	TTTTTTTTTTTT	TTTTTTTTTTTTTTTTT	1: 85,572,291 (GRCm39)		probably benign	Het
Spata31f1e	A	G	4: 42,791,750 (GRCm39)	I794T	probably benign	Het
Speer3	T	G	5: 13,845,462 (GRCm39)	I165S	possibly damaging	Het
Timm23	A	G	14: 31,923,594 (GRCm39)		probably null	Het
Tmem17	A	T	11: 22,467,427 (GRCm39)	Y75F	possibly damaging	Het
Tmem86b	A	T	7: 4,632,608 (GRCm39)	C85*	probably null	Het
Try5	A	G	6: 41,291,613 (GRCm39)	F6S	probably benign	Het
Vmn2r71	G	T	7: 85,270,436 (GRCm39)	C534F	probably damaging	Het
Vmn2r85	A	T	10: 130,265,281 (GRCm39)	D67E	probably benign	Het
Wars2	A	T	3: 99,124,116 (GRCm39)	M326L	probably benign	Het
Wdr70	A	T	15: 8,108,821 (GRCm39)	S108R	unknown	Het
Zfp677	A	G	17: 21,618,392 (GRCm39)	H483R	probably damaging	Het

Other mutations in Igkv6-29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0010:Igkv6-29	UTSW	6	70,115,754 (GRCm39)	unclassified	probably benign
R0755:Igkv6-29	UTSW	6	70,116,053 (GRCm39)	missense	probably benign	0.22
R5728:Igkv6-29	UTSW	6	70,115,584 (GRCm39)	missense	possibly damaging	0.60
R5743:Igkv6-29	UTSW	6	70,115,584 (GRCm39)	missense	possibly damaging	0.60
R5746:Igkv6-29	UTSW	6	70,115,584 (GRCm39)	missense	possibly damaging	0.60
R5773:Igkv6-29	UTSW	6	70,115,584 (GRCm39)	missense	possibly damaging	0.60
R8560:Igkv6-29	UTSW	6	70,115,651 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CAGTTAGTCAGGCATAGCAGG -3'
(R):5'- TTGTAATGACCCAATCTCCCAAATC -3'

Sequencing Primer
(F):5'- TTAGTCAGGCATAGCAGGTCTCAG -3'
(R):5'- ATCCATGTCCATGTCAGTAGGAG -3'

Posted On

2018-06-06