Incidental Mutation 'R9735:Cd6'
| ID |
731653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd6
|
| Ensembl Gene |
ENSMUSG00000024670 |
| Gene Name |
CD6 antigen |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R9735 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
10766705-10807422 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10775235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 296
(S296P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039043]
[ENSMUST00000080292]
[ENSMUST00000174176]
|
| AlphaFold |
Q61003 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039043
AA Change: S296P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000046861
Gene: ENSMUSG00000024670
AA Change: S296P
| 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: S296P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000079172
Gene: ENSMUSG00000024670
AA Change: S296P
| 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 |
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 |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 99.1%
- 20x: 98.2%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
T |
C |
8: 89,037,262 (GRCm39) |
V215A |
probably benign |
Het |
| Arhgef12 |
G |
A |
9: 42,882,399 (GRCm39) |
R1482* |
probably null |
Het |
| Atp9b |
A |
T |
18: 80,838,629 (GRCm39) |
D428E |
|
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cpt1a |
A |
G |
19: 3,420,825 (GRCm39) |
R428G |
probably benign |
Het |
| Csmd2 |
A |
C |
4: 128,402,901 (GRCm39) |
T2330P |
|
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dcaf4 |
T |
A |
12: 83,572,939 (GRCm39) |
I18N |
probably benign |
Het |
| Ern1 |
A |
T |
11: 106,312,708 (GRCm39) |
Y224* |
probably null |
Het |
| Ero1a |
T |
A |
14: 45,533,435 (GRCm39) |
S224C |
possibly damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,856,435 (GRCm39) |
V2074E |
probably damaging |
Het |
| Flg2 |
A |
G |
3: 93,127,669 (GRCm39) |
S2194G |
unknown |
Het |
| Fnip1 |
A |
T |
11: 54,394,273 (GRCm39) |
D903V |
probably damaging |
Het |
| Lss |
G |
T |
10: 76,382,615 (GRCm39) |
A497S |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,621,882 (GRCm39) |
F675L |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,735,179 (GRCm39) |
F720L |
probably benign |
Het |
| Nup210 |
A |
C |
6: 91,030,630 (GRCm39) |
S884A |
probably benign |
Het |
| Or2j6 |
T |
A |
7: 139,980,378 (GRCm39) |
M194L |
probably benign |
Het |
| Or4p20 |
A |
T |
2: 88,253,501 (GRCm39) |
N289K |
probably damaging |
Het |
| Osbpl5 |
C |
T |
7: 143,248,673 (GRCm39) |
V630I |
possibly damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,772,820 (GRCm39) |
I1069T |
possibly damaging |
Het |
| Rnaseh2a |
C |
T |
8: 85,686,661 (GRCm39) |
V163M |
probably damaging |
Het |
| Septin9 |
T |
A |
11: 117,245,680 (GRCm39) |
V434E |
probably damaging |
Het |
| Slc36a3 |
A |
T |
11: 55,026,104 (GRCm39) |
I238N |
probably damaging |
Het |
| Spin1 |
T |
A |
13: 51,293,521 (GRCm39) |
L77Q |
probably damaging |
Het |
| Spint1 |
A |
G |
2: 119,076,897 (GRCm39) |
D327G |
probably damaging |
Het |
| Tmub2 |
A |
G |
11: 102,178,352 (GRCm39) |
D123G |
|
Het |
| Vps13a |
A |
T |
19: 16,701,111 (GRCm39) |
L686Q |
probably damaging |
Het |
| Zfp51 |
C |
A |
17: 21,685,413 (GRCm39) |
S676* |
probably null |
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 |
|
|
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 |
|
|
Z1177:Cd6
|
UTSW |
19 |
10,768,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCTGAGCAGACAACCCTG -3'
(R):5'- AAACATGTAGGGCTATCTGGGTTC -3'
Sequencing Primer
(F):5'- AGACAACCCTGGCTGCC -3'
(R):5'- CATGTAGGGCTATCTGGGTTCTTCTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation