Incidental Mutation 'R6720:Cd6'
| ID |
529565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd6
|
| Ensembl Gene |
ENSMUSG00000024670 |
| Gene Name |
CD6 antigen |
| Synonyms |
|
| MMRRC Submission |
044838-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R6720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
10766705-10807422 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 10771973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 414
(T414S)
|
| 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 benign
Transcript: ENSMUST00000039043
AA Change: T414S
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000046861
Gene: ENSMUSG00000024670
AA Change: T414S
| 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: T414S
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000079172
Gene: ENSMUSG00000024670
AA Change: T414S
| 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
AA Change: T313S
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000134639
Gene: ENSMUSG00000024670
AA Change: T313S
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.6%
|
| Validation Efficiency |
98% (50/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
G |
A |
4: 137,181,997 (GRCm39) |
E51K |
possibly damaging |
Het |
| Abca1 |
A |
C |
4: 53,083,733 (GRCm39) |
L700R |
probably damaging |
Het |
| Arpc1a |
C |
A |
5: 145,038,032 (GRCm39) |
|
probably null |
Het |
| Baz2b |
G |
T |
2: 59,755,234 (GRCm39) |
P241Q |
probably damaging |
Het |
| Ces2b |
A |
T |
8: 105,563,501 (GRCm39) |
E409D |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,656,981 (GRCm39) |
Y3024H |
probably benign |
Het |
| Chrm1 |
A |
G |
19: 8,655,912 (GRCm39) |
T206A |
probably benign |
Het |
| Clptm1l |
T |
C |
13: 73,766,635 (GRCm39) |
W512R |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,247,552 (GRCm39) |
|
probably null |
Het |
| Cox15 |
A |
G |
19: 43,725,228 (GRCm39) |
S392P |
probably damaging |
Het |
| Cplx3 |
A |
G |
9: 57,521,355 (GRCm39) |
|
probably null |
Het |
| Cr2 |
T |
C |
1: 194,837,508 (GRCm39) |
M1197V |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,453,723 (GRCm39) |
K1281E |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,009,381 (GRCm39) |
F2094L |
probably damaging |
Het |
| Ear2 |
T |
A |
14: 44,340,416 (GRCm39) |
C25S |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,016,012 (GRCm39) |
D802G |
probably damaging |
Het |
| Eftud2 |
G |
A |
11: 102,729,449 (GRCm39) |
Q84* |
probably null |
Het |
| Eif4g3 |
T |
A |
4: 137,903,143 (GRCm39) |
|
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,384,813 (GRCm39) |
D866G |
probably damaging |
Het |
| Farsb |
A |
G |
1: 78,449,134 (GRCm39) |
M99T |
probably damaging |
Het |
| Foxs1 |
T |
A |
2: 152,774,640 (GRCm39) |
S138C |
probably damaging |
Het |
| Frem1 |
T |
G |
4: 82,932,069 (GRCm39) |
S211R |
probably damaging |
Het |
| Gm19410 |
G |
A |
8: 36,274,730 (GRCm39) |
R1517Q |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,709,611 (GRCm39) |
I27M |
probably benign |
Het |
| H2-Q7 |
A |
G |
17: 35,661,654 (GRCm39) |
E299G |
probably benign |
Het |
| Hao2 |
T |
G |
3: 98,784,451 (GRCm39) |
I305L |
probably benign |
Het |
| Hectd4 |
C |
T |
5: 121,445,444 (GRCm39) |
Q122* |
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,317,760 (GRCm39) |
C2079S |
probably damaging |
Het |
| Hoxb1 |
C |
A |
11: 96,257,813 (GRCm39) |
Q248K |
probably damaging |
Het |
| Hspb6 |
A |
G |
7: 30,253,772 (GRCm39) |
D95G |
probably benign |
Het |
| Ighv5-2 |
T |
A |
12: 113,542,126 (GRCm39) |
R117S |
probably damaging |
Het |
| Ino80d |
A |
C |
1: 63,097,769 (GRCm39) |
S708R |
probably damaging |
Het |
| Mmp15 |
A |
G |
8: 96,091,942 (GRCm39) |
N51D |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,559,585 (GRCm39) |
M1140V |
probably benign |
Het |
| Niban2 |
T |
A |
2: 32,795,838 (GRCm39) |
V22D |
probably damaging |
Het |
| Or1e1f |
A |
G |
11: 73,856,291 (GRCm39) |
N286D |
probably damaging |
Het |
| Or2y8 |
A |
G |
11: 52,035,520 (GRCm39) |
V279A |
probably benign |
Het |
| Or8b41 |
T |
A |
9: 38,054,449 (GRCm39) |
M1K |
probably null |
Het |
| Or8k21 |
A |
G |
2: 86,145,409 (GRCm39) |
S74P |
probably damaging |
Het |
| Pard3b |
A |
T |
1: 62,198,629 (GRCm39) |
N239I |
probably damaging |
Het |
| Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
| Pcdha9 |
T |
C |
18: 37,131,122 (GRCm39) |
S64P |
probably damaging |
Het |
| Pdcd1 |
T |
C |
1: 93,969,114 (GRCm39) |
N68S |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,143,916 (GRCm39) |
|
probably null |
Het |
| Plekha4 |
A |
T |
7: 45,190,310 (GRCm39) |
D359V |
possibly damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,921,792 (GRCm39) |
I78V |
probably benign |
Het |
| Slc39a7 |
T |
A |
17: 34,249,082 (GRCm39) |
T269S |
probably benign |
Het |
| Sltm |
T |
G |
9: 70,480,992 (GRCm39) |
D281E |
probably damaging |
Het |
| Zfp708 |
T |
C |
13: 67,219,496 (GRCm39) |
Y76C |
probably damaging |
Het |
| Zfp990 |
T |
A |
4: 145,263,497 (GRCm39) |
V165D |
possibly 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 |
|
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'- ACTGGGCATGCTGGGAAAATC -3'
(R):5'- GGATCAGTTCATGGGTAGAAAGTC -3'
Sequencing Primer
(F):5'- TCCCACCATCAAGAGGTTTGG -3'
(R):5'- TTCATGGGTAGAAAGTCAAGGAAAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation