Incidental Mutation 'IGL00573:Cd69'
| ID |
5369 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd69
|
| Ensembl Gene |
ENSMUSG00000030156 |
| Gene Name |
CD69 antigen |
| Synonyms |
AIM, 5830438K24Rik, VEA |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL00573
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
129244287-129252332 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 129245283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 140
(V140F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032259]
[ENSMUST00000204411]
|
| AlphaFold |
P37217 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032259
AA Change: V181F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032259
Gene: ENSMUSG00000030156
AA Change: V181F
| 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 |
noncoding transcript
Transcript: ENSMUST00000203727
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204411
AA Change: V140F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144734
Gene: ENSMUSG00000030156
AA Change: V140F
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
44 |
154 |
1.5e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205032
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205190
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
G |
5: 8,877,704 (GRCm39) |
D687G |
probably benign |
Het |
| Cep290 |
C |
T |
10: 100,376,223 (GRCm39) |
P1437L |
probably damaging |
Het |
| Chd4 |
T |
C |
6: 125,086,860 (GRCm39) |
Y1023H |
probably damaging |
Het |
| Col6a4 |
T |
A |
9: 105,900,095 (GRCm39) |
Y1676F |
probably benign |
Het |
| Ctnna2 |
A |
C |
6: 76,879,264 (GRCm39) |
|
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,450,161 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
A |
T |
15: 85,111,238 (GRCm39) |
M131L |
probably benign |
Het |
| Flcn |
A |
G |
11: 59,686,649 (GRCm39) |
V368A |
probably damaging |
Het |
| Marveld2 |
A |
T |
13: 100,734,367 (GRCm39) |
|
probably benign |
Het |
| Mcm8 |
A |
G |
2: 132,674,732 (GRCm39) |
Y400C |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,666,619 (GRCm39) |
|
probably null |
Het |
| Nedd4 |
T |
A |
9: 72,593,338 (GRCm39) |
|
probably null |
Het |
| Nlrp3 |
C |
T |
11: 59,455,942 (GRCm39) |
H913Y |
possibly damaging |
Het |
| Pkd1 |
G |
T |
17: 24,813,504 (GRCm39) |
E4015* |
probably null |
Het |
| Plscr1 |
C |
T |
9: 92,146,732 (GRCm39) |
L125F |
probably benign |
Het |
| Trim30c |
T |
A |
7: 104,031,838 (GRCm39) |
I326L |
possibly damaging |
Het |
| Tsga10 |
T |
C |
1: 37,846,151 (GRCm39) |
D325G |
probably damaging |
Het |
| Tubgcp4 |
A |
G |
2: 121,009,182 (GRCm39) |
Y158C |
probably damaging |
Het |
| Zbtb40 |
G |
A |
4: 136,745,389 (GRCm39) |
P215S |
probably benign |
Het |
| Zfp568 |
A |
T |
7: 29,721,865 (GRCm39) |
H269L |
possibly damaging |
Het |
| Zmynd11 |
T |
G |
13: 9,739,262 (GRCm39) |
E510A |
probably damaging |
Het |
|
| Other mutations in Cd69 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6972:Cd69
|
UTSW |
6 |
129,246,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation