Mutagenetix > Incidental Mutation

Incidental Mutation 'R6811:Ly6g6c'

533822

Institutional Source

Beutler Lab

Gene Symbol

Ly6g6c

Ensembl Gene

ENSMUSG00000092586

Gene Name

lymphocyte antigen 6 family member G6C

Synonyms

G6c, NG24, 1110003M04Rik

MMRRC Submission

045018-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R6811 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35286301-35289024 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35288386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 86 (L86P)

Ref Sequence

ENSEMBL: ENSMUSP00000133510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007259] [ENSMUST00000097337] [ENSMUST00000173207] [ENSMUST00000173478] [ENSMUST00000174190] [ENSMUST00000174876]

AlphaFold

Q9Z1Q4

Predicted Effect

probably benign
Transcript: ENSMUST00000007259

SMART Domains

Protein: ENSMUSP00000007259
Gene: ENSMUSG00000073413

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	121	132	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097337

SMART Domains

Protein: ENSMUSP00000094950
Gene: ENSMUSG00000073414

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IG	20	121	3.27e0	SMART
low complexity region	145	160	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173207
AA Change: L112P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134194
Gene: ENSMUSG00000092586
AA Change: L112P

Domain	Start	End	E-Value	Type
low complexity region	22	39	N/A	INTRINSIC
Blast:LU	48	136	3e-57	BLAST
low complexity region	139	151	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173478
AA Change: L86P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133510
Gene: ENSMUSG00000092586
AA Change: L86P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Blast:LU	22	110	2e-57	BLAST
low complexity region	113	125	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174190

SMART Domains

Protein: ENSMUSP00000133377
Gene: ENSMUSG00000073414

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IG	20	121	3.27e0	SMART
low complexity region	145	160	N/A	INTRINSIC
low complexity region	168	180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174876

SMART Domains

Protein: ENSMUSP00000133838
Gene: ENSMUSG00000092586

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Blast:LU	22	56	9e-18	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.1%
20x: 97.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LY6G6C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,401,210 (GRCm39)	S69P	probably damaging	Het
Alkbh7	G	T	17: 57,304,392 (GRCm39)	R10L	probably benign	Het
Ano3	T	C	2: 110,711,212 (GRCm39)	E84G	probably benign	Het
Asxl3	A	G	18: 22,655,968 (GRCm39)	E1326G	possibly damaging	Het
Atrnl1	T	G	19: 57,643,393 (GRCm39)	M427R	probably damaging	Het
Cenpf	T	C	1: 189,386,739 (GRCm39)	E1847G	probably benign	Het
Csf1r	T	C	18: 61,252,125 (GRCm39)	Y536H	probably damaging	Het
Dnm3	T	C	1: 162,148,652 (GRCm39)	K240E	probably damaging	Het
Dsc1	T	G	18: 20,222,711 (GRCm39)	E587A	probably benign	Het
Gm19410	C	A	8: 36,239,733 (GRCm39)	A143E	probably damaging	Het
Gm19965	G	T	1: 116,731,809 (GRCm39)	L38F	probably damaging	Het
Helz	T	C	11: 107,510,144 (GRCm39)		probably null	Het
Herc2	C	T	7: 55,763,181 (GRCm39)	R929*	probably null	Het
Iqcn	T	C	8: 71,169,422 (GRCm39)	S1171P	probably benign	Het
Krt31	A	G	11: 99,939,242 (GRCm39)	L225P	probably damaging	Het
Lrp1b	T	C	2: 40,605,512 (GRCm39)		probably null	Het
Lrp1b	A	G	2: 41,339,206 (GRCm39)	V765A	probably benign	Het
Lsm5	A	G	6: 56,679,127 (GRCm39)	I34T	possibly damaging	Het
Meak7	A	T	8: 120,495,029 (GRCm39)	I243N	possibly damaging	Het
Megf11	A	G	9: 64,451,923 (GRCm39)	T116A	probably damaging	Het
Megf6	T	C	4: 154,336,618 (GRCm39)	C190R	probably damaging	Het
Mroh9	A	G	1: 162,873,610 (GRCm39)	V515A	possibly damaging	Het
Mtbp	C	A	15: 55,469,942 (GRCm39)		probably null	Het
Myo9b	T	A	8: 71,809,222 (GRCm39)	F1810L	probably damaging	Het
Nacad	T	G	11: 6,549,400 (GRCm39)	K180Q	possibly damaging	Het
Ncf2	G	A	1: 152,711,791 (GRCm39)	V502I	probably benign	Het
Npsr1	T	A	9: 24,046,105 (GRCm39)	C75S	probably benign	Het
Oog3	T	C	4: 143,886,152 (GRCm39)	T149A	probably benign	Het
Pank1	T	A	19: 34,818,422 (GRCm39)	Q39L	probably benign	Het
Pdx1	T	C	5: 147,211,474 (GRCm39)	S232P	possibly damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pirb	A	T	7: 3,722,641 (GRCm39)	V117E	possibly damaging	Het
Ppl	G	A	16: 4,907,008 (GRCm39)	L1096F	probably damaging	Het
Rev3l	T	A	10: 39,706,917 (GRCm39)	Y2223*	probably null	Het
Slc16a4	A	G	3: 107,206,233 (GRCm39)	Y101C	probably benign	Het
Slc17a3	A	T	13: 24,039,924 (GRCm39)	I321F	possibly damaging	Het
Sufu	T	A	19: 46,438,317 (GRCm39)	D168E	probably damaging	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Vmn1r237	T	G	17: 21,534,648 (GRCm39)	S124A	probably benign	Het
Vmn2r60	T	A	7: 41,844,310 (GRCm39)	C558S	probably damaging	Het
Vwa5b1	G	A	4: 138,319,414 (GRCm39)	T414I	probably benign	Het
Zbtb47	T	C	9: 121,595,595 (GRCm39)	S573P	probably damaging	Het
Zfp971	T	G	2: 177,675,674 (GRCm39)	C424W	possibly damaging	Het

Other mutations in Ly6g6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03047:Ly6g6c	UTSW	17	35,288,325 (GRCm39)	splice site	probably null
R0099:Ly6g6c	UTSW	17	35,287,891 (GRCm39)	missense	probably damaging	0.97
R4876:Ly6g6c	UTSW	17	35,288,416 (GRCm39)	missense	probably damaging	1.00
R5041:Ly6g6c	UTSW	17	35,284,428 (GRCm39)	critical splice donor site	probably null
R7078:Ly6g6c	UTSW	17	35,288,437 (GRCm39)	missense	probably damaging	1.00
R7208:Ly6g6c	UTSW	17	35,286,387 (GRCm39)	missense	unknown
R8092:Ly6g6c	UTSW	17	35,287,867 (GRCm39)	missense	probably damaging	1.00
R9397:Ly6g6c	UTSW	17	35,288,317 (GRCm39)	missense	probably benign	0.08
X0062:Ly6g6c	UTSW	17	35,288,332 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TTGACCCCAGGAATTGGTCTTAG -3'
(R):5'- AAGGCTCAGGCTATAGCAGG -3'

Sequencing Primer
(F):5'- ATGGCTCATGCTCGGGAAG -3'
(R):5'- CTATAGCAGGTGGTAAGATTGTAGCC -3'

Posted On

2018-09-12