Incidental Mutation 'R1185:Cd69'
| ID |
102032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd69
|
| Ensembl Gene |
ENSMUSG00000030156 |
| Gene Name |
CD69 antigen |
| Synonyms |
AIM, 5830438K24Rik, VEA |
| MMRRC Submission |
039257-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R1185 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
129244287-129252332 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 129247148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 23
(G23D)
|
| 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: G64D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032259
Gene: ENSMUSG00000030156
AA Change: G64D
| 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: G23D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144734
Gene: ENSMUSG00000030156
AA Change: G23D
| 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
|
| Meta Mutation Damage Score |
0.3763 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 96.3%
- 10x: 87.8%
- 20x: 68.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aimp2 |
A |
G |
5: 143,841,509 (GRCm39) |
S110P |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 3,998,783 (GRCm39) |
T51A |
probably benign |
Het |
| Arhgef25 |
A |
G |
10: 127,019,650 (GRCm39) |
F430L |
possibly damaging |
Het |
| Brap |
T |
C |
5: 121,813,342 (GRCm39) |
V235A |
probably damaging |
Het |
| Cecr2 |
C |
T |
6: 120,735,166 (GRCm39) |
R24* |
probably null |
Het |
| Celsr2 |
T |
C |
3: 108,307,025 (GRCm39) |
D1974G |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,234,358 (GRCm39) |
K915R |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,408,362 (GRCm39) |
D401G |
probably damaging |
Het |
| Dusp13b |
A |
G |
14: 21,785,086 (GRCm39) |
F141S |
probably damaging |
Het |
| Eif1ad19 |
A |
G |
12: 87,740,478 (GRCm39) |
V27A |
probably benign |
Het |
| Fam162b |
A |
G |
10: 51,466,439 (GRCm39) |
W27R |
probably benign |
Het |
| Focad |
A |
G |
4: 88,096,424 (GRCm39) |
T269A |
probably benign |
Het |
| Ghr |
T |
A |
15: 3,357,544 (GRCm39) |
R241S |
possibly damaging |
Het |
| Hirip3 |
AAGAG |
AAG |
7: 126,462,832 (GRCm39) |
|
probably null |
Het |
| Ift70a1 |
A |
T |
2: 75,810,696 (GRCm39) |
N462K |
probably damaging |
Het |
| Itgb2l |
A |
G |
16: 96,230,240 (GRCm39) |
Y357H |
possibly damaging |
Het |
| Jrkl |
T |
C |
9: 13,244,938 (GRCm39) |
D241G |
possibly damaging |
Het |
| Lmod1 |
A |
G |
1: 135,291,967 (GRCm39) |
D274G |
probably benign |
Het |
| Lrrn2 |
A |
G |
1: 132,866,959 (GRCm39) |
S675G |
probably benign |
Het |
| Ltbp4 |
G |
C |
7: 27,009,960 (GRCm39) |
P1200R |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,735,576 (GRCm39) |
L3414P |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,683,624 (GRCm39) |
S1856T |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,186,310 (GRCm39) |
Y921H |
probably damaging |
Het |
| Or2n1c |
T |
A |
17: 38,520,074 (GRCm39) |
*313R |
probably null |
Het |
| Pgap3 |
T |
C |
11: 98,281,960 (GRCm39) |
D117G |
probably damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,892,812 (GRCm39) |
F671L |
possibly damaging |
Het |
| Proser3 |
G |
A |
7: 30,245,572 (GRCm39) |
A144V |
probably benign |
Het |
| Purg |
T |
G |
8: 33,876,897 (GRCm39) |
Y178* |
probably null |
Het |
| Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
T |
A |
19: 40,371,050 (GRCm39) |
D79V |
probably damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,568,368 (GRCm39) |
T663A |
probably damaging |
Het |
| Timd4 |
C |
A |
11: 46,708,475 (GRCm39) |
T167K |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,108,527 (GRCm39) |
L195P |
possibly damaging |
Het |
| Tnr |
G |
A |
1: 159,679,856 (GRCm39) |
A277T |
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,114,477 (GRCm39) |
G181D |
probably benign |
Het |
| Vmn1r11 |
T |
A |
6: 57,114,492 (GRCm39) |
L52Q |
possibly damaging |
Het |
| Vmn2r125 |
C |
A |
4: 156,703,396 (GRCm39) |
A258D |
probably benign |
Het |
| Zfp27 |
T |
C |
7: 29,595,254 (GRCm39) |
D237G |
possibly damaging |
Het |
| Zfp39 |
T |
C |
11: 58,793,670 (GRCm39) |
T23A |
possibly damaging |
Het |
| Zfp459 |
T |
G |
13: 67,556,600 (GRCm39) |
N161T |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCCACGACTAAGTTTCGCTAC -3'
(R):5'- GACAACACAACCCTTTGTTCATGCC -3'
Sequencing Primer
(F):5'- AGACAGGTGCCCAGTTTC -3'
(R):5'- CCCATCCTGTCCTGAGTGAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation