Incidental Mutation 'R8122:Cd6'
ID |
631580 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd6
|
Ensembl Gene |
ENSMUSG00000024670 |
Gene Name |
CD6 antigen |
Synonyms |
|
MMRRC Submission |
067551-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R8122 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
10766705-10807422 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 10770231 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 487
(F487L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079172
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039043]
[ENSMUST00000080292]
[ENSMUST00000174176]
|
AlphaFold |
Q61003 |
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 damaging
Transcript: ENSMUST00000080292
AA Change: F487L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000079172 Gene: ENSMUSG00000024670 AA Change: F487L
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 |
|
Meta Mutation Damage Score |
0.2197 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.0%
- 20x: 97.5%
|
Validation Efficiency |
98% (47/48) |
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 |
Abat |
A |
G |
16: 8,433,761 (GRCm39) |
Y426C |
probably damaging |
Het |
Acsbg3 |
T |
A |
17: 57,193,670 (GRCm39) |
V672E |
possibly damaging |
Het |
Adgrv1 |
A |
G |
13: 81,419,037 (GRCm39) |
V5986A |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
Ahnak2 |
T |
C |
12: 112,742,510 (GRCm39) |
S521G |
possibly damaging |
Het |
Amer2 |
A |
T |
14: 60,616,791 (GRCm39) |
M329L |
possibly damaging |
Het |
Arhgap20 |
A |
G |
9: 51,761,293 (GRCm39) |
N1048S |
probably damaging |
Het |
Asah1 |
T |
C |
8: 41,796,767 (GRCm39) |
E305G |
probably benign |
Het |
AW551984 |
T |
A |
9: 39,510,665 (GRCm39) |
K223N |
probably damaging |
Het |
Bptf |
C |
A |
11: 106,927,417 (GRCm39) |
|
probably null |
Het |
C1qtnf6 |
T |
C |
15: 78,411,446 (GRCm39) |
N77D |
probably benign |
Het |
Capn13 |
T |
A |
17: 73,674,205 (GRCm39) |
I83F |
probably damaging |
Het |
Cit |
T |
C |
5: 116,107,069 (GRCm39) |
V1067A |
probably damaging |
Het |
Cspg4b |
A |
T |
13: 113,455,442 (GRCm39) |
D496V |
|
Het |
Csrnp1 |
T |
C |
9: 119,802,273 (GRCm39) |
D262G |
probably damaging |
Het |
Cyp2d11 |
T |
A |
15: 82,276,744 (GRCm39) |
Q65L |
probably benign |
Het |
Dbt |
T |
A |
3: 116,313,891 (GRCm39) |
C19* |
probably null |
Het |
Dgkg |
A |
C |
16: 22,385,295 (GRCm39) |
|
probably null |
Het |
Eif4g2 |
T |
C |
7: 110,677,760 (GRCm39) |
I118V |
possibly damaging |
Het |
Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
Gpr158 |
A |
T |
2: 21,831,674 (GRCm39) |
M925L |
probably benign |
Het |
Kcnn2 |
T |
G |
18: 45,810,005 (GRCm39) |
V414G |
probably damaging |
Het |
Lama2 |
G |
A |
10: 26,930,592 (GRCm39) |
H2055Y |
possibly damaging |
Het |
Loxl3 |
T |
A |
6: 83,026,240 (GRCm39) |
W443R |
probably damaging |
Het |
Mab21l1 |
A |
T |
3: 55,690,905 (GRCm39) |
D164V |
probably benign |
Het |
Mroh7 |
T |
C |
4: 106,559,726 (GRCm39) |
T734A |
probably damaging |
Het |
Or2y1f |
C |
A |
11: 49,184,401 (GRCm39) |
N84K |
probably damaging |
Het |
Or8g35 |
A |
G |
9: 39,381,822 (GRCm39) |
S67P |
probably damaging |
Het |
Pkhd1 |
C |
T |
1: 20,632,682 (GRCm39) |
E578K |
probably damaging |
Het |
Pld2 |
T |
A |
11: 70,432,259 (GRCm39) |
L126* |
probably null |
Het |
Polk |
A |
T |
13: 96,620,291 (GRCm39) |
N716K |
probably benign |
Het |
Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,170,295 (GRCm39) |
K669E |
probably benign |
Het |
Sag |
A |
G |
1: 87,762,289 (GRCm39) |
D318G |
probably damaging |
Het |
Scfd1 |
T |
A |
12: 51,480,052 (GRCm39) |
V528E |
possibly damaging |
Het |
Scn4a |
A |
G |
11: 106,221,157 (GRCm39) |
L834P |
probably benign |
Het |
Shank1 |
G |
T |
7: 43,983,015 (GRCm39) |
G637V |
unknown |
Het |
Slc12a6 |
A |
G |
2: 112,097,167 (GRCm39) |
M1V |
probably null |
Het |
St6gal1 |
A |
G |
16: 23,173,644 (GRCm39) |
K242R |
probably benign |
Het |
Syt3 |
A |
G |
7: 44,045,153 (GRCm39) |
Y495C |
probably damaging |
Het |
Taar8c |
C |
T |
10: 23,977,107 (GRCm39) |
S235N |
probably benign |
Het |
Tmem183a |
A |
T |
1: 134,282,503 (GRCm39) |
C201S |
probably benign |
Het |
Top2a |
T |
C |
11: 98,889,993 (GRCm39) |
I1237V |
probably benign |
Het |
Trub1 |
G |
T |
19: 57,473,563 (GRCm39) |
V207L |
probably benign |
Het |
Ttll13 |
T |
A |
7: 79,909,217 (GRCm39) |
I634N |
probably benign |
Het |
Ube2j1 |
T |
G |
4: 33,045,145 (GRCm39) |
N208K |
probably benign |
Het |
Wdr17 |
A |
G |
8: 55,118,011 (GRCm39) |
S569P |
probably 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 |
|
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 |
|
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'- CAGGGTCAAAGGGCACATTG -3'
(R):5'- AGTCACTCACCCTTTAGGACAC -3'
Sequencing Primer
(F):5'- GTCAAAGGGCACATTGAAAGTTTTAC -3'
(R):5'- CAAAATTGGTCACTTGCTACTCTG -3'
|
Posted On |
2020-06-30 |