Incidental Mutation 'IGL00921:Klrg1'
| ID |
27619 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klrg1
|
| Ensembl Gene |
ENSMUSG00000030114 |
| Gene Name |
killer cell lectin-like receptor subfamily G, member 1 |
| Synonyms |
2F1-Ag |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00921
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
122247555-122259792 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122259711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 20
(D20E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032207]
|
| AlphaFold |
O88713 |
| PDB Structure |
Structure of NK cell receptor KLRG1 bound to E-cadherin [X-RAY DIFFRACTION]
Structure of NK cell receptor KLRG1 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032207
AA Change: D20E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000032207
Gene: ENSMUSG00000030114
AA Change: D20E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
56 |
N/A |
INTRINSIC |
|
CLECT
|
75 |
184 |
1.13e-18 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor (KLR) family, which is a group of transmembrane proteins preferentially expressed in NK cells. Studies in mice suggested that the expression of this gene may be regulated by MHC class I molecules. [provided by RefSeq, Jun 2016]
PHENOTYPE: Mice homozygous for a null allele have no abnormal phenoptype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,324,888 (GRCm39) |
I1530T |
probably damaging |
Het |
| Actb |
T |
C |
5: 142,890,191 (GRCm39) |
E237G |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,690,585 (GRCm39) |
E931G |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,185,387 (GRCm39) |
T375A |
probably benign |
Het |
| D1Pas1 |
A |
G |
1: 186,700,983 (GRCm39) |
D304G |
probably benign |
Het |
| Ddx49 |
G |
A |
8: 70,747,406 (GRCm39) |
Q345* |
probably null |
Het |
| Dnttip2 |
A |
T |
3: 122,068,939 (GRCm39) |
K51N |
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,543,066 (GRCm39) |
E621G |
probably damaging |
Het |
| Grhpr |
A |
G |
4: 44,988,991 (GRCm39) |
D216G |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hook2 |
T |
C |
8: 85,729,126 (GRCm39) |
|
probably benign |
Het |
| Hspbp1 |
A |
G |
7: 4,667,750 (GRCm39) |
S248P |
probably damaging |
Het |
| Kat6a |
C |
T |
8: 23,430,279 (GRCm39) |
P1878L |
unknown |
Het |
| Layn |
G |
A |
9: 50,968,708 (GRCm39) |
T345I |
probably damaging |
Het |
| Mpi |
G |
A |
9: 57,459,549 (GRCm39) |
L9F |
probably damaging |
Het |
| Nbn |
T |
C |
4: 15,963,833 (GRCm39) |
V78A |
possibly damaging |
Het |
| Pkdrej |
A |
G |
15: 85,701,427 (GRCm39) |
I1503T |
probably damaging |
Het |
| Pou2f2 |
C |
A |
7: 24,792,125 (GRCm39) |
E577* |
probably null |
Het |
| Prim2 |
G |
T |
1: 33,551,241 (GRCm39) |
H292Q |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,636,302 (GRCm39) |
N630D |
probably benign |
Het |
| Trim80 |
A |
G |
11: 115,338,490 (GRCm39) |
N440S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,766,746 (GRCm39) |
S3111G |
probably damaging |
Het |
| Ubash3a |
A |
G |
17: 31,447,160 (GRCm39) |
T339A |
probably benign |
Het |
| Zbtb21 |
A |
C |
16: 97,753,222 (GRCm39) |
S354A |
probably damaging |
Het |
| Zfp335 |
T |
C |
2: 164,736,696 (GRCm39) |
T980A |
possibly damaging |
Het |
|
| Other mutations in Klrg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0766:Klrg1
|
UTSW |
6 |
122,256,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1297:Klrg1
|
UTSW |
6 |
122,250,538 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1974:Klrg1
|
UTSW |
6 |
122,259,721 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2034:Klrg1
|
UTSW |
6 |
122,256,596 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4823:Klrg1
|
UTSW |
6 |
122,250,492 (GRCm39) |
splice site |
probably null |
|
|
R4995:Klrg1
|
UTSW |
6 |
122,255,234 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5029:Klrg1
|
UTSW |
6 |
122,259,694 (GRCm39) |
missense |
probably benign |
|
|
R5225:Klrg1
|
UTSW |
6 |
122,248,331 (GRCm39) |
makesense |
probably null |
|
|
R6389:Klrg1
|
UTSW |
6 |
122,248,431 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6482:Klrg1
|
UTSW |
6 |
122,248,412 (GRCm39) |
nonsense |
probably null |
|
|
R7958:Klrg1
|
UTSW |
6 |
122,248,331 (GRCm39) |
makesense |
probably null |
|
|
R8774:Klrg1
|
UTSW |
6 |
122,255,193 (GRCm39) |
missense |
probably benign |
|
|
R8774-TAIL:Klrg1
|
UTSW |
6 |
122,255,193 (GRCm39) |
missense |
probably benign |
|
|
R8801:Klrg1
|
UTSW |
6 |
122,248,342 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9372:Klrg1
|
UTSW |
6 |
122,256,699 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2013-04-17 |
Incidental Mutation