Incidental Mutation 'IGL00861:Klra6'
| ID |
11672 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klra6
|
| Ensembl Gene |
ENSMUSG00000061769 |
| Gene Name |
killer cell lectin-like receptor, subfamily A, member 6 |
| Synonyms |
Ly49F, Ly49f |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL00861
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
129989996-130003917 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130000663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 47
(V47A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074056]
|
| AlphaFold |
Q60653 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074056
AA Change: V47A
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000073700
Gene: ENSMUSG00000061769
AA Change: V47A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
73 |
123 |
3e-9 |
BLAST |
|
CLECT
|
143 |
258 |
8.42e-18 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene belongs to the highly polymorphic family of C-type lectin-like Ly49 genes that are expressed in natural killer (NK) cells. The encoded protein is a homodimeric type II transmembrane receptor located at the cell surface and inhibits NK cell activation upon ligand binding. This gene is located in a cluster of several Klra paralogs on chromosome 6. Different strains of mice show variation in the number of paralogs, including strain specific duplications, deletions and pseudogene sequences. [provided by RefSeq, Apr 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adm2 |
G |
A |
15: 89,207,488 (GRCm39) |
|
probably benign |
Het |
| Ambra1 |
T |
A |
2: 91,601,271 (GRCm39) |
D189E |
possibly damaging |
Het |
| Atg16l1 |
G |
A |
1: 87,702,560 (GRCm39) |
G274S |
probably damaging |
Het |
| Cdh20 |
C |
A |
1: 109,988,718 (GRCm39) |
|
probably benign |
Het |
| Chat |
T |
C |
14: 32,170,980 (GRCm39) |
Y173C |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,434,096 (GRCm39) |
D874G |
probably damaging |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,125,158 (GRCm39) |
|
probably null |
Het |
| Eef1b2 |
G |
A |
1: 63,217,665 (GRCm39) |
G91R |
probably damaging |
Het |
| Fut10 |
G |
T |
8: 31,725,733 (GRCm39) |
V163F |
probably damaging |
Het |
| Glmn |
A |
T |
5: 107,718,005 (GRCm39) |
M304K |
possibly damaging |
Het |
| Lgi2 |
T |
C |
5: 52,695,463 (GRCm39) |
K491E |
probably benign |
Het |
| Lrrc72 |
T |
A |
12: 36,271,507 (GRCm39) |
Q138L |
probably benign |
Het |
| Nherf4 |
A |
G |
9: 44,160,933 (GRCm39) |
L211P |
possibly damaging |
Het |
| Nxph2 |
T |
A |
2: 23,289,974 (GRCm39) |
F109I |
probably damaging |
Het |
| Oosp3 |
A |
G |
19: 11,689,004 (GRCm39) |
D84G |
probably benign |
Het |
| Poc1b |
C |
T |
10: 98,965,514 (GRCm39) |
R106C |
probably benign |
Het |
| Ptk2 |
A |
G |
15: 73,134,396 (GRCm39) |
S568P |
probably damaging |
Het |
| Slc4a5 |
A |
G |
6: 83,276,453 (GRCm39) |
I1093V |
probably benign |
Het |
| Snx2 |
G |
A |
18: 53,343,869 (GRCm39) |
|
probably null |
Het |
| Washc5 |
G |
T |
15: 59,209,125 (GRCm39) |
T1033K |
probably damaging |
Het |
|
| Other mutations in Klra6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02037:Klra6
|
APN |
6 |
129,990,439 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02319:Klra6
|
APN |
6 |
130,002,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02427:Klra6
|
APN |
6 |
129,993,680 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02730:Klra6
|
APN |
6 |
129,999,660 (GRCm39) |
missense |
probably benign |
|
|
IGL02822:Klra6
|
APN |
6 |
129,993,673 (GRCm39) |
nonsense |
probably null |
|
|
R0485:Klra6
|
UTSW |
6 |
130,000,601 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0697:Klra6
|
UTSW |
6 |
129,993,687 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0731:Klra6
|
UTSW |
6 |
129,999,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1081:Klra6
|
UTSW |
6 |
129,999,588 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1708:Klra6
|
UTSW |
6 |
129,999,677 (GRCm39) |
nonsense |
probably null |
|
|
R1749:Klra6
|
UTSW |
6 |
129,995,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1842:Klra6
|
UTSW |
6 |
129,999,573 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1944:Klra6
|
UTSW |
6 |
129,995,908 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4214:Klra6
|
UTSW |
6 |
129,995,885 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5210:Klra6
|
UTSW |
6 |
129,995,855 (GRCm39) |
nonsense |
probably null |
|
|
R5286:Klra6
|
UTSW |
6 |
129,995,932 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5418:Klra6
|
UTSW |
6 |
129,990,393 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5764:Klra6
|
UTSW |
6 |
129,999,692 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6193:Klra6
|
UTSW |
6 |
129,995,881 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6536:Klra6
|
UTSW |
6 |
130,000,682 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6696:Klra6
|
UTSW |
6 |
129,993,696 (GRCm39) |
missense |
probably benign |
|
|
R7021:Klra6
|
UTSW |
6 |
129,995,821 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7718:Klra6
|
UTSW |
6 |
129,990,315 (GRCm39) |
frame shift |
probably null |
|
|
R8500:Klra6
|
UTSW |
6 |
129,999,660 (GRCm39) |
missense |
probably benign |
|
|
R8910:Klra6
|
UTSW |
6 |
129,993,647 (GRCm39) |
missense |
probably benign |
|
|
R8983:Klra6
|
UTSW |
6 |
129,999,573 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9164:Klra6
|
UTSW |
6 |
129,993,687 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9775:Klra6
|
UTSW |
6 |
129,999,639 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-12-06 |
Incidental Mutation