Incidental Mutation 'R1297:Klrg1'
ID |
158175 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klrg1
|
Ensembl Gene |
ENSMUSG00000030114 |
Gene Name |
killer cell lectin-like receptor subfamily G, member 1 |
Synonyms |
2F1-Ag |
MMRRC Submission |
039363-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1297 (G1)
|
Quality Score |
218 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
122247555-122259792 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 122250538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 138
(I138F)
|
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: I138F
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000032207 Gene: ENSMUSG00000030114 AA Change: I138F
Domain | Start | End | E-Value | Type |
transmembrane domain
|
34 |
56 |
N/A |
INTRINSIC |
CLECT
|
75 |
184 |
1.13e-18 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.8%
|
Validation Efficiency |
100% (37/37) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aebp1 |
A |
G |
11: 5,820,834 (GRCm39) |
N542D |
possibly damaging |
Het |
Ap2b1 |
T |
A |
11: 83,223,935 (GRCm39) |
W217R |
probably damaging |
Het |
Cep290 |
T |
A |
10: 100,374,962 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
G |
A |
4: 63,183,868 (GRCm39) |
|
probably benign |
Het |
Cyp2d12 |
A |
T |
15: 82,441,887 (GRCm39) |
H109L |
probably benign |
Het |
Dnah17 |
T |
C |
11: 118,012,192 (GRCm39) |
|
probably benign |
Het |
Golga3 |
G |
A |
5: 110,352,709 (GRCm39) |
A867T |
probably benign |
Het |
Gstt4 |
T |
A |
10: 75,653,133 (GRCm39) |
N143I |
possibly damaging |
Het |
Hdac2 |
G |
A |
10: 36,862,370 (GRCm39) |
R78Q |
possibly damaging |
Het |
Itsn2 |
T |
C |
12: 4,750,378 (GRCm39) |
I1241T |
probably damaging |
Het |
Kalrn |
T |
C |
16: 33,836,868 (GRCm39) |
K2249R |
probably damaging |
Het |
Mast1 |
A |
G |
8: 85,639,345 (GRCm39) |
V1328A |
probably benign |
Het |
Mettl25 |
T |
C |
10: 105,659,126 (GRCm39) |
S386G |
probably benign |
Het |
Nme2 |
A |
T |
11: 93,842,782 (GRCm39) |
N210K |
possibly damaging |
Het |
Pgap1 |
T |
C |
1: 54,567,682 (GRCm39) |
S388G |
possibly damaging |
Het |
Pgk2 |
C |
A |
17: 40,519,255 (GRCm39) |
V58L |
probably benign |
Het |
Phf11 |
A |
T |
14: 59,495,996 (GRCm39) |
H39Q |
probably benign |
Het |
Pou6f1 |
T |
A |
15: 100,476,186 (GRCm39) |
T292S |
probably damaging |
Het |
Rbm5 |
G |
A |
9: 107,621,441 (GRCm39) |
R15C |
probably damaging |
Het |
Rnf215 |
T |
C |
11: 4,089,806 (GRCm39) |
V273A |
possibly damaging |
Het |
Rras |
A |
G |
7: 44,670,003 (GRCm39) |
D145G |
probably damaging |
Het |
Safb2 |
T |
C |
17: 56,891,265 (GRCm39) |
|
probably benign |
Het |
Setdb1 |
A |
T |
3: 95,257,187 (GRCm39) |
|
probably benign |
Het |
Sp5 |
A |
G |
2: 70,306,873 (GRCm39) |
D186G |
probably benign |
Het |
Thada |
A |
G |
17: 84,559,863 (GRCm39) |
|
probably benign |
Het |
Tle1 |
A |
G |
4: 72,043,075 (GRCm39) |
V598A |
probably damaging |
Het |
Tnrc6c |
A |
G |
11: 117,624,529 (GRCm39) |
N947S |
possibly damaging |
Het |
Tnxb |
T |
C |
17: 34,929,140 (GRCm39) |
S2728P |
probably damaging |
Het |
Vmn1r13 |
A |
G |
6: 57,187,392 (GRCm39) |
R184G |
probably damaging |
Het |
Wdr24 |
C |
T |
17: 26,046,322 (GRCm39) |
T522I |
possibly damaging |
Het |
Zfyve16 |
A |
G |
13: 92,658,840 (GRCm39) |
V357A |
probably benign |
Het |
|
Other mutations in Klrg1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00921:Klrg1
|
APN |
6 |
122,259,711 (GRCm39) |
missense |
probably benign |
0.00 |
R0766:Klrg1
|
UTSW |
6 |
122,256,622 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGGGACTACTCAATCAGGAAGGAC -3'
(R):5'- gagagagagagagagagGATAAGGATGACTAA -3'
Sequencing Primer
(F):5'- cccccaccctcacctcc -3'
(R):5'- tcccccataccctcccc -3'
|
Posted On |
2014-02-18 |