Incidental Mutation 'IGL00823:Cd6'
| ID |
9504 |
| 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 # |
IGL00823
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
10766705-10807422 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 10773758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134639
(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
|
| SMART Domains |
Protein: ENSMUSP00000046861
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 |
|
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
|
| SMART Domains |
Protein: ENSMUSP00000079172
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 |
|
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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
C |
5: 77,026,381 (GRCm39) |
|
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,308,758 (GRCm39) |
E39G |
probably benign |
Het |
| Anapc7 |
G |
A |
5: 122,571,540 (GRCm39) |
W205* |
probably null |
Het |
| Arhgap5 |
C |
T |
12: 52,565,525 (GRCm39) |
T832I |
possibly damaging |
Het |
| Arhgef10 |
T |
A |
8: 14,990,378 (GRCm39) |
|
probably benign |
Het |
| Atg5 |
A |
G |
10: 44,239,040 (GRCm39) |
T274A |
probably benign |
Het |
| Baiap2l2 |
G |
T |
15: 79,168,765 (GRCm39) |
|
probably benign |
Het |
| Brap |
T |
A |
5: 121,803,290 (GRCm39) |
M146K |
probably damaging |
Het |
| Brpf1 |
T |
C |
6: 113,298,847 (GRCm39) |
S1074P |
probably benign |
Het |
| Camta1 |
A |
C |
4: 151,169,058 (GRCm39) |
I231R |
probably benign |
Het |
| Ccdc15 |
C |
T |
9: 37,231,709 (GRCm39) |
G205D |
probably benign |
Het |
| Cdh17 |
T |
G |
4: 11,783,412 (GRCm39) |
S219R |
possibly damaging |
Het |
| Cgn |
G |
A |
3: 94,674,519 (GRCm39) |
R873W |
probably damaging |
Het |
| Ctnna3 |
C |
T |
10: 63,373,322 (GRCm39) |
P41L |
possibly damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,659,888 (GRCm39) |
W484R |
probably benign |
Het |
| Dmd |
A |
G |
X: 83,469,419 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
C |
T |
11: 117,937,987 (GRCm39) |
V3347I |
probably benign |
Het |
| Fgd5 |
T |
A |
6: 91,965,440 (GRCm39) |
S400T |
possibly damaging |
Het |
| Kitl |
C |
A |
10: 99,923,206 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
A |
T |
2: 31,808,533 (GRCm39) |
D763V |
probably damaging |
Het |
| Lgmn |
T |
C |
12: 102,364,435 (GRCm39) |
|
probably benign |
Het |
| Lpcat2 |
T |
G |
8: 93,591,598 (GRCm39) |
W81G |
possibly damaging |
Het |
| Myh13 |
A |
G |
11: 67,246,773 (GRCm39) |
I1165V |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,456,343 (GRCm39) |
D599G |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,061,567 (GRCm39) |
N2099S |
probably benign |
Het |
| Nlrc4 |
T |
C |
17: 74,754,985 (GRCm39) |
D77G |
probably benign |
Het |
| Otub1 |
A |
G |
19: 7,181,416 (GRCm39) |
|
probably benign |
Het |
| Pabir2 |
A |
T |
X: 52,334,208 (GRCm39) |
C222S |
probably damaging |
Het |
| Pah |
A |
G |
10: 87,406,193 (GRCm39) |
Y174C |
probably null |
Het |
| Rbbp5 |
G |
A |
1: 132,417,444 (GRCm39) |
V88I |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,155,279 (GRCm39) |
R560H |
probably benign |
Het |
| Snx5 |
T |
C |
2: 144,097,485 (GRCm39) |
I217V |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,036,016 (GRCm39) |
S3769P |
probably damaging |
Het |
| Tent2 |
T |
C |
13: 93,322,905 (GRCm39) |
T15A |
probably benign |
Het |
| Tmem255b |
T |
C |
8: 13,507,054 (GRCm39) |
M261T |
probably benign |
Het |
| Top3b |
T |
C |
16: 16,705,486 (GRCm39) |
I417T |
probably damaging |
Het |
| Tspan2 |
T |
C |
3: 102,665,549 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,540,057 (GRCm39) |
T34310A |
possibly damaging |
Het |
| Ush2a |
G |
A |
1: 188,643,640 (GRCm39) |
C4334Y |
possibly damaging |
Het |
| Wdpcp |
A |
G |
11: 21,609,995 (GRCm39) |
D21G |
probably damaging |
Het |
| Yy2 |
A |
C |
X: 156,351,207 (GRCm39) |
D186E |
probably benign |
Het |
|
| Other mutations in Cd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01326:Cd6
|
APN |
19 |
10,768,466 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
2012-12-06 |
Incidental Mutation