Incidental Mutation 'R8999:Cd6'
ID |
684888 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd6
|
Ensembl Gene |
ENSMUSG00000024670 |
Gene Name |
CD6 antigen |
Synonyms |
|
MMRRC Submission |
068830-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R8999 (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 T
at 10776642 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 128
(C128S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079172
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039043]
[ENSMUST00000080292]
[ENSMUST00000174176]
|
AlphaFold |
Q61003 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039043
AA Change: C128S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046861 Gene: ENSMUSG00000024670 AA Change: C128S
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: C128S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000079172 Gene: ENSMUSG00000024670 AA Change: C128S
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 damaging
Transcript: ENSMUST00000174176
AA Change: C128S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134639 Gene: ENSMUSG00000024670 AA Change: C128S
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 |
0.8539 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
100% (47/47) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aipl1 |
T |
C |
11: 71,921,083 (GRCm39) |
E245G |
possibly damaging |
Het |
Cep41 |
T |
C |
6: 30,666,165 (GRCm39) |
D98G |
probably benign |
Het |
Cfap52 |
T |
C |
11: 67,818,137 (GRCm39) |
K525E |
probably damaging |
Het |
Ddx10 |
T |
C |
9: 53,140,534 (GRCm39) |
E289G |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 31,018,235 (GRCm39) |
T1428A |
probably benign |
Het |
Dsg3 |
T |
C |
18: 20,666,684 (GRCm39) |
L631P |
probably damaging |
Het |
Dusp19 |
T |
A |
2: 80,461,271 (GRCm39) |
C187S |
probably benign |
Het |
Efcab3 |
A |
T |
11: 104,640,477 (GRCm39) |
M1072L |
probably benign |
Het |
Fap |
T |
C |
2: 62,367,368 (GRCm39) |
H338R |
probably benign |
Het |
Fxyd2 |
T |
C |
9: 45,314,295 (GRCm39) |
|
probably benign |
Het |
Gabrg1 |
T |
A |
5: 70,973,378 (GRCm39) |
I59F |
probably benign |
Het |
Glb1l3 |
A |
T |
9: 26,764,914 (GRCm39) |
|
probably null |
Het |
Gpr27 |
T |
C |
6: 99,669,776 (GRCm39) |
I46T |
possibly damaging |
Het |
Igkv8-26 |
C |
A |
6: 70,170,514 (GRCm39) |
A35E |
probably benign |
Het |
Ikzf1 |
A |
G |
11: 11,635,013 (GRCm39) |
|
probably benign |
Het |
Krt18 |
A |
C |
15: 101,939,874 (GRCm39) |
E357D |
probably damaging |
Het |
Lbr |
C |
T |
1: 181,646,512 (GRCm39) |
G470E |
probably damaging |
Het |
Map2 |
A |
T |
1: 66,452,473 (GRCm39) |
K454N |
possibly damaging |
Het |
Map2k3 |
T |
C |
11: 60,840,817 (GRCm39) |
V282A |
|
Het |
Men1 |
G |
A |
19: 6,389,960 (GRCm39) |
V538I |
probably benign |
Het |
Mfn1 |
T |
A |
3: 32,623,683 (GRCm39) |
M621K |
possibly damaging |
Het |
Mpdz |
C |
A |
4: 81,202,882 (GRCm39) |
G1838* |
probably null |
Het |
Msantd5f9 |
G |
C |
4: 73,837,420 (GRCm39) |
N99K |
probably damaging |
Het |
Mypn |
A |
T |
10: 62,998,050 (GRCm39) |
L420* |
probably null |
Het |
Nkx6-1 |
T |
C |
5: 101,812,082 (GRCm39) |
M7V |
unknown |
Het |
Notum |
G |
A |
11: 120,545,207 (GRCm39) |
H451Y |
probably benign |
Het |
Odad2 |
C |
A |
18: 7,211,574 (GRCm39) |
V767L |
possibly damaging |
Het |
Or11i1 |
A |
T |
3: 106,728,999 (GRCm39) |
I292N |
probably damaging |
Het |
Or2b28 |
A |
G |
13: 21,531,988 (GRCm39) |
K297E |
probably damaging |
Het |
Or6c3 |
A |
G |
10: 129,309,386 (GRCm39) |
N275S |
probably benign |
Het |
Pabpc4l |
A |
C |
3: 46,400,783 (GRCm39) |
I287S |
probably benign |
Het |
Pcdha2 |
C |
T |
18: 37,073,428 (GRCm39) |
T353M |
possibly damaging |
Het |
Plekha1 |
T |
C |
7: 130,510,199 (GRCm39) |
I315T |
unknown |
Het |
Ppp2r2b |
C |
T |
18: 42,870,993 (GRCm39) |
A106T |
probably benign |
Het |
Prkch |
T |
C |
12: 73,742,973 (GRCm39) |
V209A |
probably damaging |
Het |
Ptprc |
A |
G |
1: 138,028,930 (GRCm39) |
C284R |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,083,671 (GRCm39) |
V804A |
probably benign |
Het |
Rbp3 |
C |
T |
14: 33,684,360 (GRCm39) |
R1130* |
probably null |
Het |
Serpina6 |
C |
G |
12: 103,617,988 (GRCm39) |
R275P |
probably damaging |
Het |
Six3 |
T |
A |
17: 85,931,164 (GRCm39) |
H273Q |
probably benign |
Het |
Stk35 |
C |
A |
2: 129,652,509 (GRCm39) |
P337T |
probably damaging |
Het |
Supt5 |
A |
G |
7: 28,037,848 (GRCm39) |
S2P |
unknown |
Het |
Tnik |
A |
G |
3: 28,719,920 (GRCm39) |
Y1264C |
probably damaging |
Het |
Trim45 |
A |
G |
3: 100,838,960 (GRCm39) |
T621A |
unknown |
Het |
Tyrp1 |
T |
C |
4: 80,763,094 (GRCm39) |
L327P |
probably damaging |
Het |
Vmn2r69 |
A |
C |
7: 85,060,307 (GRCm39) |
S426A |
probably benign |
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 |
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'- CTCTTAAGTTTGCATGACTTGGGAG -3'
(R):5'- GAAGGTTCTACTGGAGTCCTGG -3'
Sequencing Primer
(F):5'- CATGACTTGGGAGGCTGG -3'
(R):5'- TTCTACTGGAGTCCTGGGAGCC -3'
|
Posted On |
2021-10-11 |