Incidental Mutation 'R4124:Cd6'
| ID |
315335 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd6
|
| Ensembl Gene |
ENSMUSG00000024670 |
| Gene Name |
CD6 antigen |
| Synonyms |
|
| MMRRC Submission |
041632-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R4124 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
10766705-10807422 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 10767972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 630
(P630T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039043]
[ENSMUST00000080292]
[ENSMUST00000174176]
|
| AlphaFold |
Q61003 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000025572
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039043
AA Change: P591T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046861
Gene: ENSMUSG00000024670
AA Change: P591T
| 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 damaging
Transcript: ENSMUST00000080292
AA Change: P630T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079172
Gene: ENSMUSG00000024670
AA Change: P630T
| 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: ENSMUST00000087947
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186052
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186596
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188480
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189565
|
| Meta Mutation Damage Score |
0.1341 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (35/35) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
A |
7: 40,643,345 (GRCm39) |
M338K |
probably damaging |
Het |
| 4933409G03Rik |
T |
A |
2: 68,446,568 (GRCm39) |
|
probably benign |
Het |
| Adamtsl4 |
C |
T |
3: 95,588,982 (GRCm39) |
R483Q |
probably benign |
Het |
| Aldh7a1 |
A |
T |
18: 56,670,395 (GRCm39) |
|
probably benign |
Het |
| Ank |
T |
C |
15: 27,571,709 (GRCm39) |
F327S |
probably damaging |
Het |
| Ap2b1 |
A |
G |
11: 83,256,471 (GRCm39) |
|
probably null |
Het |
| Cdk19 |
A |
G |
10: 40,270,391 (GRCm39) |
I67V |
probably benign |
Het |
| D630003M21Rik |
C |
T |
2: 158,038,513 (GRCm39) |
V978M |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,370,689 (GRCm39) |
D864G |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,167,902 (GRCm39) |
R1062G |
probably damaging |
Het |
| Fbp2 |
T |
C |
13: 63,002,755 (GRCm39) |
E99G |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,918,512 (GRCm39) |
D3516G |
probably benign |
Het |
| Gpx6 |
C |
T |
13: 21,501,815 (GRCm39) |
Q146* |
probably null |
Het |
| Grid2 |
A |
T |
6: 63,480,417 (GRCm39) |
Q77L |
probably benign |
Het |
| Hrh1 |
T |
C |
6: 114,457,580 (GRCm39) |
V287A |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,731,093 (GRCm39) |
|
probably benign |
Het |
| Mak |
A |
T |
13: 41,210,106 (GRCm39) |
D43E |
probably benign |
Het |
| Or14j8 |
A |
G |
17: 38,263,681 (GRCm39) |
I78T |
probably benign |
Het |
| Poln |
A |
G |
5: 34,261,295 (GRCm39) |
S561P |
probably benign |
Het |
| Ptpn11 |
T |
C |
5: 121,275,520 (GRCm39) |
S562G |
probably benign |
Het |
| Pxn |
A |
G |
5: 115,684,966 (GRCm39) |
R264G |
probably damaging |
Het |
| Rell2 |
A |
G |
18: 38,091,267 (GRCm39) |
H144R |
probably benign |
Het |
| Rpgrip1 |
T |
C |
14: 52,389,781 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slamf9 |
T |
C |
1: 172,303,808 (GRCm39) |
I51T |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,081,191 (GRCm39) |
R1349Q |
possibly damaging |
Het |
| Tgtp2 |
T |
C |
11: 48,950,238 (GRCm39) |
I111M |
probably damaging |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Vmn1r215 |
A |
T |
13: 23,260,163 (GRCm39) |
T68S |
probably benign |
Het |
| Ypel2 |
A |
G |
11: 86,836,753 (GRCm39) |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTACAGAGCTGAGGTTCCC -3'
(R):5'- AACTGTGTGTCCTTCCATGC -3'
Sequencing Primer
(F):5'- AGCTGAGGTTCCCAGGCTG -3'
(R):5'- GTGTGACCTTGGACAAGTCTCC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation