Incidental Mutation 'IGL02694:Ly6g6f'
| ID |
303855 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ly6g6f
|
| Ensembl Gene |
ENSMUSG00000034923 |
| Gene Name |
lymphocyte antigen 6 family member G6F |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL02694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35299514-35304571 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 35300144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 235
(V235M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013910]
[ENSMUST00000038507]
[ENSMUST00000172494]
[ENSMUST00000172678]
[ENSMUST00000172959]
|
| AlphaFold |
B2RXM6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013910
|
| SMART Domains |
Protein: ENSMUSP00000013910
Gene: ENSMUSG00000013766
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
LU
|
28 |
117 |
1.65e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038507
AA Change: V235M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000046380
Gene: ENSMUSG00000034923
AA Change: V235M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
21 |
127 |
6.02e-7 |
SMART |
|
transmembrane domain
|
237 |
259 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172494
|
| SMART Domains |
Protein: ENSMUSP00000133645
Gene: ENSMUSG00000013766
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Blast:LU
|
28 |
50 |
1e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172639
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172678
|
| SMART Domains |
Protein: ENSMUSP00000134073
Gene: ENSMUSG00000013766
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
LU
|
28 |
117 |
1.65e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172745
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172959
|
| SMART Domains |
Protein: ENSMUSP00000133753
Gene: ENSMUSG00000013766
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Activin_recp
|
82 |
143 |
2.3e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173120
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The human G6f protein is a type I transmembrane protein belonging to the immunoglobin (Ig) superfamily, which is comprised of cell-surface proteins involved in the immune system and cellular recognition (de Vet et al., 2003 [PubMed 12852788]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
A |
G |
7: 97,866,084 (GRCm39) |
I213T |
probably benign |
Het |
| Alox8 |
T |
A |
11: 69,077,455 (GRCm39) |
T432S |
probably damaging |
Het |
| Col4a3 |
T |
C |
1: 82,688,515 (GRCm39) |
|
probably benign |
Het |
| Cyp2c54 |
A |
G |
19: 40,035,987 (GRCm39) |
Y308H |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,394,476 (GRCm39) |
V1942A |
probably benign |
Het |
| F11 |
T |
C |
8: 45,705,196 (GRCm39) |
Y115C |
probably damaging |
Het |
| Fam13b |
A |
G |
18: 34,584,259 (GRCm39) |
|
probably null |
Het |
| Gykl1 |
A |
G |
18: 52,827,257 (GRCm39) |
H155R |
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,124,606 (GRCm39) |
V355D |
probably damaging |
Het |
| Lrtm2 |
T |
A |
6: 119,297,846 (GRCm39) |
D65V |
possibly damaging |
Het |
| Mlxipl |
G |
A |
5: 135,152,872 (GRCm39) |
|
probably null |
Het |
| Or11j4 |
A |
G |
14: 50,630,257 (GRCm39) |
I15V |
probably benign |
Het |
| Or13a20 |
A |
G |
7: 140,232,093 (GRCm39) |
N67S |
probably damaging |
Het |
| Or14a256 |
C |
T |
7: 86,265,518 (GRCm39) |
V112I |
probably benign |
Het |
| Ppp2r1a |
A |
G |
17: 21,171,702 (GRCm39) |
|
probably benign |
Het |
| Psmb2 |
A |
G |
4: 126,603,351 (GRCm39) |
N193S |
probably benign |
Het |
| Rassf2 |
A |
T |
2: 131,851,641 (GRCm39) |
Y34N |
possibly damaging |
Het |
| Ryr2 |
A |
G |
13: 11,620,075 (GRCm39) |
F3841L |
probably damaging |
Het |
| Skint2 |
A |
G |
4: 112,473,792 (GRCm39) |
|
probably benign |
Het |
| Spdl1 |
T |
C |
11: 34,704,448 (GRCm39) |
I462V |
probably benign |
Het |
| Spopfm1 |
A |
G |
3: 94,173,459 (GRCm39) |
M152V |
probably benign |
Het |
| Tlk2 |
A |
G |
11: 105,112,061 (GRCm39) |
E138G |
probably benign |
Het |
| Vmn1r89 |
A |
G |
7: 12,954,056 (GRCm39) |
E196G |
probably benign |
Het |
| Zfp142 |
A |
G |
1: 74,609,307 (GRCm39) |
L1496P |
probably damaging |
Het |
| Zfp689 |
T |
C |
7: 127,047,573 (GRCm39) |
D94G |
possibly damaging |
Het |
| Zfp944 |
A |
G |
17: 22,558,899 (GRCm39) |
V116A |
probably benign |
Het |
|
| Other mutations in Ly6g6f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01647:Ly6g6f
|
APN |
17 |
35,299,817 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01804:Ly6g6f
|
APN |
17 |
35,300,146 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02280:Ly6g6f
|
APN |
17 |
35,302,194 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02455:Ly6g6f
|
APN |
17 |
35,301,866 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0519:Ly6g6f
|
UTSW |
17 |
35,301,828 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1169:Ly6g6f
|
UTSW |
17 |
35,302,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1796:Ly6g6f
|
UTSW |
17 |
35,302,478 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5549:Ly6g6f
|
UTSW |
17 |
35,302,333 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6717:Ly6g6f
|
UTSW |
17 |
35,304,550 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R8012:Ly6g6f
|
UTSW |
17 |
35,300,060 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9443:Ly6g6f
|
UTSW |
17 |
35,299,826 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
X0017:Ly6g6f
|
UTSW |
17 |
35,304,514 (GRCm39) |
missense |
probably benign |
0.17 |
|
X0027:Ly6g6f
|
UTSW |
17 |
35,300,096 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Ly6g6f
|
UTSW |
17 |
35,302,008 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Posted On |
2015-04-16 |
Incidental Mutation