Mutagenetix > Incidental Mutations

Incidental Mutation 'R7078:Ly6g6c'

549387

Institutional Source

Beutler Lab

Gene Symbol

Ly6g6c

Ensembl Gene

ENSMUSG00000092586

Gene Name

lymphocyte antigen 6 complex, locus G6C

Synonyms

1110003M04Rik, G6c, NG24

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R7078 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35065388-35070050 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35069461 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 103 (P103L)

Ref Sequence

ENSEMBL: ENSMUSP00000133510 (fasta)

Gene Model

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

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: P129L

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

SMART Domains

Protein: ENSMUSP00000134194
Gene: ENSMUSG00000092586
AA Change: P129L

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: P103L

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

SMART Domains

Protein: ENSMUSP00000133510
Gene: ENSMUSG00000092586
AA Change: P103L

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: 99.9%
10x: 99.6%
20x: 98.8%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	G	5: 9,410,709	N210S	probably benign	Het
Acaca	G	A	11: 84,263,312	R953Q	possibly damaging	Het
Aldh1a1	A	T	19: 20,602,070	H20L	probably benign	Het
Ankrd52	T	A	10: 128,383,657	C487S	probably benign	Het
Ap1s3	T	C	1: 79,625,128	E54G	probably benign	Het
Arglu1	A	C	8: 8,667,361	M236R	probably benign	Het
Baz1b	T	A	5: 135,217,439	F581I	probably benign	Het
Bbox1	T	G	2: 110,292,539	D135A	probably benign	Het
Bcl2l14	T	A	6: 134,423,823	V69E	probably damaging	Het
Brinp3	C	T	1: 146,514,889	Q58*	probably null	Het
Ccnb1ip1	T	A	14: 50,792,267	K113*	probably null	Het
Cep128	T	C	12: 91,234,104	I830M	probably damaging	Het
Ces2f	C	T	8: 104,954,652	T541I	probably damaging	Het
Chsy3	C	A	18: 59,176,077	P134Q	possibly damaging	Het
Cobl	T	G	11: 12,378,271	T112P	probably damaging	Het
Dcc	T	A	18: 71,547,398	K589I	probably benign	Het
Depdc1b	T	A	13: 108,386,971	I460K	possibly damaging	Het
Dlst	T	C	12: 85,110,931	F12S	probably benign	Het
Dnah1	G	C	14: 31,297,110	F1342L	probably damaging	Het
Dtnb	A	G	12: 3,748,480	Q438R	possibly damaging	Het
Dusp4	C	A	8: 34,807,911	S61R	probably damaging	Het
E130308A19Rik	A	G	4: 59,737,688	Y433C	probably damaging	Het
Ebf2	T	C	14: 67,423,958	S512P	probably benign	Het
Eya1	C	T	1: 14,231,412		probably null	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
Fzr1	T	A	10: 81,368,629	D379V	probably damaging	Het
Gk2	T	A	5: 97,456,336	E214D	probably benign	Het
Gm10837	C	G	14: 122,490,730	A6G	unknown	Het
Gmnc	A	T	16: 26,960,522	V251E	probably benign	Het
Golga3	A	G	5: 110,193,087	Q549R	probably damaging	Het
Gsdmd	T	G	15: 75,864,355	V111G	probably damaging	Het
Gtf3c1	T	C	7: 125,645,742	T1707A	possibly damaging	Het
Gucy2c	C	T	6: 136,697,939	V1049M	probably benign	Het
Gucy2g	A	G	19: 55,241,151	V29A	probably damaging	Het
Hecw1	A	T	13: 14,434,459	M1K	probably null	Het
Hmcn1	T	C	1: 150,860,367	D117G	probably damaging	Het
Ifnab	T	A	4: 88,691,113	T39S	possibly damaging	Het
Lcorl	A	G	5: 45,747,224	Y171H	probably damaging	Het
Macf1	T	G	4: 123,432,143	E5189A	probably damaging	Het
Mapkap1	A	G	2: 34,563,139	E348G	probably damaging	Het
Med25	G	T	7: 44,884,901	A280D	probably damaging	Het
Mep1b	C	A	18: 21,100,051	A703E	probably benign	Het
Morn5	T	A	2: 36,054,978	N71K	probably benign	Het
Mtmr10	T	A	7: 64,320,627	Y373N	possibly damaging	Het
Myo1d	C	T	11: 80,674,634	E426K	probably damaging	Het
Ncbp1	G	C	4: 46,155,756	V302L	probably benign	Het
Notch4	A	G	17: 34,582,546	T1123A	possibly damaging	Het
Nudt18	T	A	14: 70,579,012	M88K	possibly damaging	Het
Olfr1452-ps1	A	T	19: 13,016,733	D170V	possibly damaging	Het
Olfr212	T	A	6: 116,516,671	L298Q	probably damaging	Het
Olfr361	A	G	2: 37,085,596	S51P	possibly damaging	Het
Olfr967	A	T	9: 39,750,491	Y35F	possibly damaging	Het
Pdcd6ip	T	C	9: 113,659,885	N694S	probably benign	Het
Pecam1	T	A	11: 106,688,947	T430S	probably benign	Het
Plaa	T	G	4: 94,574,051	T530P	probably benign	Het
Ppfia3	G	T	7: 45,360,595	Q95K	probably damaging	Het
Ppp4r2	T	C	6: 100,866,313	S331P	probably benign	Het
Prg4	T	C	1: 150,458,263	T117A	possibly damaging	Het
Prrc2b	A	T	2: 32,213,519	D1003V	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Rasef	T	C	4: 73,780,389	I12V	probably benign	Het
Robo2	T	G	16: 74,352,616	Y108S	probably damaging	Het
Rp1	T	A	1: 4,206,791	E762V	unknown	Het
Rsg1	A	T	4: 141,219,848	Y180F	probably benign	Het
Rsrc1	T	C	3: 66,994,654	S46P	unknown	Het
Rttn	A	T	18: 89,009,422	T554S	probably benign	Het
Sall3	C	T	18: 80,974,099	V205M	probably damaging	Het
Scn3a	C	A	2: 65,497,600	V849L	probably damaging	Het
Sec23a	A	G	12: 58,992,283	C277R	probably benign	Het
Sf3b3	C	T	8: 110,813,007	A1075T	possibly damaging	Het
Sfxn5	T	C	6: 85,332,384	D113G	unknown	Het
Slc22a22	C	T	15: 57,263,480	M64I	probably benign	Het
Slc5a11	C	T	7: 123,258,446	P253S	probably damaging	Het
Smarcd3	A	G	5: 24,593,069	F449S	probably damaging	Het
Sspo	C	T	6: 48,460,379	T1357M	probably damaging	Het
Styx	C	T	14: 45,372,416	T179I	probably benign	Het
Syt7	A	T	19: 10,435,599	T297S	probably benign	Het
Tbx19	T	A	1: 165,160,566		probably benign	Het
Tg	T	A	15: 66,673,543	V149E	probably damaging	Het
Tgfbr3l	T	A	8: 4,249,238	L35Q	probably damaging	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Tmem219	T	A	7: 126,891,803	T161S	probably damaging	Het
Tox2	T	A	2: 163,320,581	L68H		Het
Trim5	T	A	7: 104,278,474	D153V	possibly damaging	Het
Ttn	T	C	2: 76,750,307	Y23414C	probably damaging	Het
Ttn	A	T	2: 76,751,809	N22913K	probably damaging	Het
Ubr2	A	C	17: 46,955,853	M1124R	possibly damaging	Het
Vmn2r75	A	G	7: 86,166,360	S99P	probably damaging	Het
Wdr83	T	C	8: 85,076,051	D219G	probably damaging	Het
Wdr90	C	T	17: 25,849,649	V1285M	probably damaging	Het
Zmynd15	A	T	11: 70,460,755	L62F	probably damaging	Het

Other mutations in Ly6g6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03047:Ly6g6c	UTSW	17	35069349	unclassified	probably null
R0099:Ly6g6c	UTSW	17	35068915	missense	probably damaging	0.97
R4876:Ly6g6c	UTSW	17	35069440	missense	probably damaging	1.00
R5041:Ly6g6c	UTSW	17	35065452	critical splice donor site	probably null
R6811:Ly6g6c	UTSW	17	35069410	missense	probably damaging	1.00
R7208:Ly6g6c	UTSW	17	35067411	missense	unknown
X0062:Ly6g6c	UTSW	17	35069356	unclassified	probably null

Predicted Primers

PCR Primer
(F):5'- AGTAGCCAATGGACACAGGC -3'
(R):5'- ACTAGGGACATGATCTTCAGAAG -3'

Sequencing Primer
(F):5'- AGTGCCCACTGCTGATCC -3'
(R):5'- CTTCAGAAGAAGGGGGTGG -3'

Posted On

2019-05-15