Incidental Mutation 'R5041:Ly6g6c'
| ID |
452800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ly6g6c
|
| Ensembl Gene |
ENSMUSG00000092586 |
| Gene Name |
lymphocyte antigen 6 family member G6C |
| Synonyms |
G6c, NG24, 1110003M04Rik |
| MMRRC Submission |
042631-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R5041 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35286301-35289024 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 35284428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134194
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007255]
[ENSMUST00000097337]
[ENSMUST00000173207]
[ENSMUST00000173478]
[ENSMUST00000173520]
[ENSMUST00000174190]
[ENSMUST00000174876]
[ENSMUST00000174493]
|
| AlphaFold |
Q9Z1Q4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007255
|
| SMART Domains |
Protein: ENSMUSP00000007255
Gene: ENSMUSG00000007039
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2JAJ|B
|
1 |
282 |
1e-77 |
PDB |
|
SCOP:d1h70a_
|
13 |
277 |
1e-48 |
SMART |
|
| 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 null
Transcript: ENSMUST00000173207
|
| SMART Domains |
Protein: ENSMUSP00000134194
Gene: ENSMUSG00000092586
| 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 benign
Transcript: ENSMUST00000173478
|
| SMART Domains |
Protein: ENSMUSP00000133510
Gene: ENSMUSG00000092586
| 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: ENSMUST00000173520
|
| SMART Domains |
Protein: ENSMUSP00000134595
Gene: ENSMUSG00000007039
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidinotransf
|
28 |
157 |
1.1e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173562
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174493
|
| SMART Domains |
Protein: ENSMUSP00000134072
Gene: ENSMUSG00000007039
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidinotransf
|
30 |
232 |
5e-27 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
98% (42/43) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
A |
G |
16: 56,550,711 (GRCm39) |
F667S |
probably benign |
Het |
| Akna |
A |
G |
4: 63,305,381 (GRCm39) |
Y462H |
possibly damaging |
Het |
| Anxa11 |
G |
T |
14: 25,875,188 (GRCm39) |
E278* |
probably null |
Het |
| Ap3s2 |
T |
C |
7: 79,570,267 (GRCm39) |
Y20C |
probably benign |
Het |
| Atxn7 |
T |
C |
14: 14,096,317 (GRCm38) |
|
probably null |
Het |
| AW551984 |
T |
C |
9: 39,511,894 (GRCm39) |
Y39C |
probably damaging |
Het |
| Becn1 |
A |
T |
11: 101,179,662 (GRCm39) |
S442T |
probably benign |
Het |
| Bhlhe40 |
C |
T |
6: 108,639,546 (GRCm39) |
T108I |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,432,593 (GRCm39) |
D252G |
probably damaging |
Het |
| Cpxm1 |
A |
G |
2: 130,235,990 (GRCm39) |
S391P |
probably damaging |
Het |
| Ctnna2 |
T |
A |
6: 76,892,746 (GRCm39) |
N814Y |
probably damaging |
Het |
| Ddx3y |
T |
A |
Y: 1,266,611 (GRCm39) |
Y282F |
probably benign |
Het |
| Ddx56 |
A |
G |
11: 6,214,178 (GRCm39) |
V357A |
probably damaging |
Het |
| Frmpd1 |
T |
G |
4: 45,278,878 (GRCm39) |
C534W |
probably damaging |
Het |
| Gimap8 |
A |
G |
6: 48,636,097 (GRCm39) |
N621D |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,336,327 (GRCm39) |
I1624N |
possibly damaging |
Het |
| Htr7 |
A |
C |
19: 36,034,467 (GRCm39) |
W63G |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,290,839 (GRCm39) |
|
probably null |
Het |
| Mfrp |
A |
G |
9: 44,013,575 (GRCm39) |
D62G |
probably damaging |
Het |
| Ncam1 |
T |
C |
9: 49,478,085 (GRCm39) |
Y173C |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,431,683 (GRCm39) |
V1185A |
possibly damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,265 (GRCm39) |
C168* |
probably null |
Het |
| Or51h7 |
T |
C |
7: 102,591,785 (GRCm39) |
|
probably null |
Het |
| Pcf11 |
G |
A |
7: 92,307,613 (GRCm39) |
P852S |
probably benign |
Het |
| Pramel25 |
T |
C |
4: 143,520,260 (GRCm39) |
V4A |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,327,071 (GRCm39) |
I63V |
probably benign |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
T |
C |
14: 75,287,572 (GRCm39) |
F619L |
probably damaging |
Het |
| Sec24d |
A |
T |
3: 123,087,880 (GRCm39) |
Q247L |
probably damaging |
Het |
| Spmap2l |
A |
G |
5: 77,203,928 (GRCm39) |
T319A |
probably benign |
Het |
| Spns3 |
G |
T |
11: 72,427,373 (GRCm39) |
Q306K |
possibly damaging |
Het |
| Sstr1 |
T |
C |
12: 58,259,941 (GRCm39) |
V188A |
possibly damaging |
Het |
| Supt5 |
A |
T |
7: 28,014,805 (GRCm39) |
L1024Q |
probably damaging |
Het |
| Tent4b |
CCCAACAACGCCAACAA |
CCCAACAA |
8: 88,981,878 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,237,836 (GRCm39) |
H3452Q |
probably benign |
Het |
| Usp28 |
A |
G |
9: 48,949,073 (GRCm39) |
Q864R |
probably benign |
Het |
| Vmn2r43 |
T |
C |
7: 8,247,806 (GRCm39) |
T786A |
probably damaging |
Het |
| Yy1 |
TCACCACCACCACCACCACCACCACCACC |
TCACCACCACCACCACCACCACCACCACCACC |
12: 108,759,557 (GRCm39) |
|
probably benign |
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 |
|
R6811:Ly6g6c
|
UTSW |
17 |
35,288,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGTAAAGGTTAGGGCTCTGC -3'
(R):5'- TTTTCTGCAAAGGACGCCAC -3'
Sequencing Primer
(F):5'- TGACTGGTCACACCCTGTTTCAAG -3'
(R):5'- GAATGAGAGTCGCACAGTGCTTC -3'
|
| Posted On |
2017-01-06 |
Incidental Mutation