Incidental Mutation 'R6972:Cd69'
| ID |
542295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd69
|
| Ensembl Gene |
ENSMUSG00000030156 |
| Gene Name |
CD69 antigen |
| Synonyms |
AIM, 5830438K24Rik, VEA |
| MMRRC Submission |
045082-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6972 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
129244287-129252332 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129246543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 122
(S122G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032259]
[ENSMUST00000204411]
|
| AlphaFold |
P37217 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032259
AA Change: S163G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000032259
Gene: ENSMUSG00000030156
AA Change: S163G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
3 |
42 |
3e-8 |
BLAST |
|
low complexity region
|
44 |
61 |
N/A |
INTRINSIC |
|
CLECT
|
85 |
195 |
3e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204411
AA Change: S122G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144734
Gene: ENSMUSG00000030156
AA Change: S122G
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
44 |
154 |
1.5e-25 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.0%
- 20x: 95.8%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the calcium dependent lectin superfamily of type II transmembrane receptors. Expression of the encoded protein is induced upon activation of T lymphocytes, and may play a role in proliferation. Furthermore, the protein may act to transmit signals in natural killer cells and platelets. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous mutation of this gene results in slightly increased pre-B and immature B cell numbers in the bone marrow, and increased IgG2a and IgM response to T cell-dependent and T cell-independent antigens. Mutant mice were less prone to collagen inducedarthritis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(2) |
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
A |
G |
7: 79,003,775 (GRCm39) |
S285G |
probably benign |
Het |
| Afg1l |
T |
C |
10: 42,354,370 (GRCm39) |
T10A |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,096,699 (GRCm39) |
N2525D |
possibly damaging |
Het |
| B3gnt7 |
G |
A |
1: 86,233,109 (GRCm39) |
M1I |
probably null |
Het |
| Bdp1 |
T |
C |
13: 100,174,269 (GRCm39) |
E2089G |
probably null |
Het |
| Calcrl |
T |
G |
2: 84,198,922 (GRCm39) |
I156L |
probably benign |
Het |
| Chek2 |
T |
C |
5: 111,003,705 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,436,658 (GRCm39) |
I1586K |
probably damaging |
Het |
| Cyp4f14 |
C |
T |
17: 33,124,483 (GRCm39) |
A523T |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,723,971 (GRCm39) |
C466* |
probably null |
Het |
| Dcdc2a |
A |
T |
13: 25,304,372 (GRCm39) |
|
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,842,439 (GRCm39) |
I220V |
probably benign |
Het |
| Etv2 |
T |
C |
7: 30,334,167 (GRCm39) |
N189D |
probably benign |
Het |
| Fuz |
T |
C |
7: 44,546,755 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
G |
11: 77,390,347 (GRCm39) |
V64G |
probably damaging |
Het |
| Gpr162 |
C |
T |
6: 124,838,272 (GRCm39) |
R126H |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,252,131 (GRCm39) |
V127A |
probably benign |
Het |
| Iqsec1 |
T |
C |
6: 90,653,750 (GRCm39) |
D665G |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,959,144 (GRCm39) |
I233V |
probably damaging |
Het |
| Lmcd1 |
C |
T |
6: 112,287,659 (GRCm39) |
T115I |
probably damaging |
Het |
| Mybpc1 |
T |
C |
10: 88,396,223 (GRCm39) |
E208G |
possibly damaging |
Het |
| Nfic |
C |
A |
10: 81,256,191 (GRCm39) |
A158S |
probably benign |
Het |
| Nos3 |
A |
T |
5: 24,585,241 (GRCm39) |
I798L |
probably benign |
Het |
| Ntrk1 |
A |
T |
3: 87,691,288 (GRCm39) |
L292Q |
probably damaging |
Het |
| Or2ag16 |
A |
G |
7: 106,351,906 (GRCm39) |
S230P |
possibly damaging |
Het |
| Orc4 |
T |
C |
2: 48,817,196 (GRCm39) |
Q164R |
probably benign |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,745 (GRCm39) |
V617E |
probably damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Plscr3 |
G |
A |
11: 69,738,784 (GRCm39) |
E149K |
probably damaging |
Het |
| Pltp |
A |
G |
2: 164,688,512 (GRCm39) |
|
probably null |
Het |
| Pramel11 |
A |
G |
4: 143,623,472 (GRCm39) |
L234P |
probably damaging |
Het |
| Prg2 |
G |
A |
2: 84,812,617 (GRCm39) |
R109H |
probably benign |
Het |
| Ptprj |
G |
A |
2: 90,410,747 (GRCm39) |
S62F |
possibly damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,607 (GRCm39) |
Y218N |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,116,089 (GRCm39) |
S240T |
probably damaging |
Het |
| Smarca5 |
A |
G |
8: 81,431,380 (GRCm39) |
Y946H |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,946,404 (GRCm39) |
V409A |
possibly damaging |
Het |
| Tafa2 |
A |
G |
10: 123,540,278 (GRCm39) |
T45A |
probably benign |
Het |
| Trim29 |
T |
A |
9: 43,238,409 (GRCm39) |
N504K |
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,452,202 (GRCm39) |
Y461H |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,887,330 (GRCm39) |
K531E |
probably damaging |
Het |
| Zfp687 |
A |
G |
3: 94,916,688 (GRCm39) |
S813P |
possibly damaging |
Het |
|
| Other mutations in Cd69 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00573:Cd69
|
APN |
6 |
129,245,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02799:Cd69
|
APN |
6 |
129,245,223 (GRCm39) |
splice site |
probably benign |
|
|
Jazzed
|
UTSW |
6 |
129,246,537 (GRCm39) |
critical splice donor site |
probably null |
|
|
Surrogate
|
UTSW |
6 |
129,246,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
3-1:Cd69
|
UTSW |
6 |
129,252,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0119:Cd69
|
UTSW |
6 |
129,247,025 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0136:Cd69
|
UTSW |
6 |
129,247,025 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1185:Cd69
|
UTSW |
6 |
129,247,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1185:Cd69
|
UTSW |
6 |
129,247,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1185:Cd69
|
UTSW |
6 |
129,247,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2327:Cd69
|
UTSW |
6 |
129,248,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2352:Cd69
|
UTSW |
6 |
129,246,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3955:Cd69
|
UTSW |
6 |
129,245,343 (GRCm39) |
splice site |
probably null |
|
|
R4780:Cd69
|
UTSW |
6 |
129,248,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5400:Cd69
|
UTSW |
6 |
129,246,954 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5522:Cd69
|
UTSW |
6 |
129,248,379 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6594:Cd69
|
UTSW |
6 |
129,246,537 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6737:Cd69
|
UTSW |
6 |
129,245,262 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7240:Cd69
|
UTSW |
6 |
129,247,005 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7694:Cd69
|
UTSW |
6 |
129,247,008 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8710:Cd69
|
UTSW |
6 |
129,246,573 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8911:Cd69
|
UTSW |
6 |
129,252,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Cd69
|
UTSW |
6 |
129,245,305 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGAGGAAGAACTGAACCACC -3'
(R):5'- GCTGTATAGTCTCCCAGTGTGG -3'
Sequencing Primer
(F):5'- GAGGAAGAACTGAACCACCATGAAC -3'
(R):5'- ATGAGCTGATGCCATGCAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation