Incidental Mutation 'IGL01326:Cd6'
| ID |
74279 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd6
|
| Ensembl Gene |
ENSMUSG00000024670 |
| Gene Name |
CD6 antigen |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL01326
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
10766705-10807422 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10768466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 508
(S508P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039043]
[ENSMUST00000080292]
[ENSMUST00000174176]
|
| AlphaFold |
Q61003 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000025572
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039043
AA Change: S508P
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000046861
Gene: ENSMUSG00000024670
AA Change: S508P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
SR
|
45 |
155 |
7.33e-9 |
SMART |
|
SR
|
160 |
259 |
8.68e-52 |
SMART |
|
SR
|
264 |
360 |
3.51e-29 |
SMART |
|
low complexity region
|
383 |
394 |
N/A |
INTRINSIC |
|
transmembrane domain
|
400 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
611 |
623 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080292
AA Change: S547P
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000079172
Gene: ENSMUSG00000024670
AA Change: S547P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
SR
|
45 |
155 |
7.33e-9 |
SMART |
|
SR
|
160 |
259 |
8.68e-52 |
SMART |
|
SR
|
264 |
360 |
3.51e-29 |
SMART |
|
low complexity region
|
383 |
394 |
N/A |
INTRINSIC |
|
transmembrane domain
|
400 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
662 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173613
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174176
|
| SMART Domains |
Protein: ENSMUSP00000134639
Gene: ENSMUSG00000024670
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
SR
|
45 |
155 |
7.33e-9 |
SMART |
|
SR
|
160 |
259 |
8.68e-52 |
SMART |
|
low complexity region
|
282 |
293 |
N/A |
INTRINSIC |
|
transmembrane domain
|
299 |
321 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein found on the outer membrane of T-lymphocytes as well as some other immune cells. The encoded protein contains three scavenger receptor cysteine-rich (SRCR) domains and a binding site for an activated leukocyte cell adhesion molecule. The gene product is important for continuation of T cell activation. This gene may be associated with susceptibility to multiple sclerosis (PMID: 19525953, 21849685). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced susceptibility to insteinal ischemia/reperfusion induced injury due to reduced IgM-producing B1a cell self-renewal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
G |
A |
3: 137,992,672 (GRCm39) |
V263M |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,375,096 (GRCm39) |
H1909Q |
probably benign |
Het |
| Atg2b |
C |
T |
12: 105,588,403 (GRCm39) |
A1936T |
probably damaging |
Het |
| Atp8b3 |
G |
T |
10: 80,360,210 (GRCm39) |
L954M |
probably damaging |
Het |
| C8a |
T |
C |
4: 104,713,617 (GRCm39) |
Y171C |
probably damaging |
Het |
| Cdk4 |
A |
G |
10: 126,900,492 (GRCm39) |
D86G |
possibly damaging |
Het |
| Cdr2l |
G |
T |
11: 115,281,796 (GRCm39) |
R100S |
probably benign |
Het |
| Cndp1 |
T |
A |
18: 84,640,357 (GRCm39) |
T283S |
probably benign |
Het |
| Cr2 |
T |
C |
1: 194,823,529 (GRCm39) |
Y1023C |
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,713,181 (GRCm39) |
F1494L |
probably benign |
Het |
| Eeig2 |
A |
G |
3: 108,887,101 (GRCm39) |
V299A |
possibly damaging |
Het |
| Eng |
G |
T |
2: 32,562,394 (GRCm39) |
G231W |
probably benign |
Het |
| Erp44 |
A |
G |
4: 48,218,126 (GRCm39) |
V181A |
probably benign |
Het |
| Fkbp15 |
A |
G |
4: 62,241,487 (GRCm39) |
S553P |
probably damaging |
Het |
| Glg1 |
A |
G |
8: 111,909,205 (GRCm39) |
V495A |
probably damaging |
Het |
| Gm9631 |
A |
T |
11: 121,836,454 (GRCm39) |
D28E |
possibly damaging |
Het |
| Gnptab |
G |
T |
10: 88,268,927 (GRCm39) |
L543F |
probably damaging |
Het |
| H4c3 |
A |
T |
13: 23,882,353 (GRCm39) |
I27N |
probably damaging |
Het |
| Khdrbs2 |
T |
G |
1: 32,696,558 (GRCm39) |
L329R |
possibly damaging |
Het |
| Kidins220 |
C |
A |
12: 25,088,498 (GRCm39) |
H1080Q |
probably damaging |
Het |
| Maml1 |
G |
A |
11: 50,156,715 (GRCm39) |
P487S |
probably benign |
Het |
| Me1 |
C |
T |
9: 86,480,771 (GRCm39) |
|
probably null |
Het |
| Morc2a |
C |
T |
11: 3,631,775 (GRCm39) |
R569C |
probably benign |
Het |
| Mrc1 |
A |
G |
2: 14,271,335 (GRCm39) |
Q413R |
probably damaging |
Het |
| Mrgprx1 |
A |
T |
7: 47,671,517 (GRCm39) |
C77S |
probably benign |
Het |
| Mtarc2 |
T |
C |
1: 184,566,048 (GRCm39) |
|
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,575,147 (GRCm39) |
|
probably benign |
Het |
| Nr4a1 |
T |
G |
15: 101,171,940 (GRCm39) |
L538R |
probably damaging |
Het |
| Olfm1 |
T |
C |
2: 28,119,564 (GRCm39) |
Y385H |
probably damaging |
Het |
| Or4a39 |
A |
T |
2: 89,236,675 (GRCm39) |
F249L |
possibly damaging |
Het |
| Or5m9 |
A |
G |
2: 85,877,627 (GRCm39) |
E267G |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,795,148 (GRCm39) |
Y2278* |
probably null |
Het |
| Plcg2 |
T |
C |
8: 118,300,738 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
G |
T |
16: 15,647,556 (GRCm39) |
C3660F |
probably benign |
Het |
| Ptpn11 |
T |
C |
5: 121,281,199 (GRCm39) |
D493G |
probably damaging |
Het |
| Rad23b |
T |
A |
4: 55,383,601 (GRCm39) |
F278I |
possibly damaging |
Het |
| Saxo2 |
T |
C |
7: 82,297,613 (GRCm39) |
I9V |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,582,604 (GRCm39) |
I98V |
probably benign |
Het |
| Serac1 |
T |
A |
17: 6,124,528 (GRCm39) |
|
probably benign |
Het |
| Simc1 |
T |
C |
13: 54,672,473 (GRCm39) |
C274R |
probably benign |
Het |
| Sirt3 |
A |
G |
7: 140,444,006 (GRCm39) |
|
probably benign |
Het |
| Tctn3 |
A |
G |
19: 40,585,880 (GRCm39) |
L555P |
probably damaging |
Het |
| Ttc14 |
A |
G |
3: 33,855,507 (GRCm39) |
I151V |
probably benign |
Het |
| Ush2a |
T |
A |
1: 187,995,518 (GRCm39) |
Y96* |
probably null |
Het |
| Usp42 |
T |
C |
5: 143,706,970 (GRCm39) |
T270A |
possibly damaging |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,784 (GRCm39) |
I27T |
probably benign |
Het |
| Vmn2r93 |
G |
A |
17: 18,536,906 (GRCm39) |
A530T |
possibly damaging |
Het |
|
| Other mutations in Cd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00823:Cd6
|
APN |
19 |
10,773,758 (GRCm39) |
splice site |
probably benign |
|
|
IGL01406:Cd6
|
APN |
19 |
10,768,501 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01885:Cd6
|
APN |
19 |
10,776,601 (GRCm39) |
missense |
probably benign |
|
|
IGL02268:Cd6
|
APN |
19 |
10,773,752 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03100:Cd6
|
APN |
19 |
10,770,303 (GRCm39) |
missense |
probably benign |
0.34 |
|
Chapel
|
UTSW |
19 |
10,776,855 (GRCm39) |
missense |
probably benign |
|
|
digression
|
UTSW |
19 |
10,775,722 (GRCm39) |
nonsense |
probably null |
|
|
R1856:Cd6
|
UTSW |
19 |
10,775,966 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2419:Cd6
|
UTSW |
19 |
10,770,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Cd6
|
UTSW |
19 |
10,771,990 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2869:Cd6
|
UTSW |
19 |
10,771,990 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2870:Cd6
|
UTSW |
19 |
10,771,990 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2870:Cd6
|
UTSW |
19 |
10,771,990 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2874:Cd6
|
UTSW |
19 |
10,771,990 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2936:Cd6
|
UTSW |
19 |
10,773,686 (GRCm39) |
splice site |
probably null |
|
|
R4124:Cd6
|
UTSW |
19 |
10,767,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Cd6
|
UTSW |
19 |
10,771,589 (GRCm39) |
nonsense |
probably null |
|
|
R6665:Cd6
|
UTSW |
19 |
10,768,367 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6720:Cd6
|
UTSW |
19 |
10,771,973 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7793:Cd6
|
UTSW |
19 |
10,775,722 (GRCm39) |
nonsense |
probably null |
|
|
R8122:Cd6
|
UTSW |
19 |
10,770,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8998:Cd6
|
UTSW |
19 |
10,776,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8999:Cd6
|
UTSW |
19 |
10,776,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9147:Cd6
|
UTSW |
19 |
10,776,855 (GRCm39) |
missense |
probably benign |
|
|
R9148:Cd6
|
UTSW |
19 |
10,776,855 (GRCm39) |
missense |
probably benign |
|
|
R9735:Cd6
|
UTSW |
19 |
10,775,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Cd6
|
UTSW |
19 |
10,768,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation