Incidental Mutation 'R0697:Klra6'
| ID |
63890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klra6
|
| Ensembl Gene |
ENSMUSG00000061769 |
| Gene Name |
killer cell lectin-like receptor, subfamily A, member 6 |
| Synonyms |
Ly49F, Ly49f |
| MMRRC Submission |
038881-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R0697 (G1)
|
| Quality Score |
91 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
129989996-130003917 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129993687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 195
(I195V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074056]
|
| AlphaFold |
Q60653 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074056
AA Change: I195V
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000073700
Gene: ENSMUSG00000061769
AA Change: I195V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
73 |
123 |
3e-9 |
BLAST |
|
CLECT
|
143 |
258 |
8.42e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157801
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
A |
19: 31,888,567 (GRCm39) |
A99E |
probably damaging |
Het |
| Aig1 |
T |
C |
10: 13,705,069 (GRCm39) |
N72S |
probably benign |
Het |
| Atad2 |
T |
C |
15: 57,968,939 (GRCm39) |
I857M |
possibly damaging |
Het |
| Ceacam15 |
A |
C |
7: 16,407,445 (GRCm39) |
L24* |
probably null |
Het |
| Cpsf2 |
A |
G |
12: 101,949,443 (GRCm39) |
H53R |
probably benign |
Het |
| Crh |
C |
A |
3: 19,748,241 (GRCm39) |
G134C |
probably damaging |
Het |
| Cyp2g1 |
A |
T |
7: 26,514,152 (GRCm39) |
K253* |
probably null |
Het |
| Dna2 |
T |
C |
10: 62,785,120 (GRCm39) |
V79A |
probably benign |
Het |
| Dsc2 |
A |
G |
18: 20,174,509 (GRCm39) |
V549A |
probably damaging |
Het |
| Etl4 |
G |
T |
2: 20,748,672 (GRCm39) |
V135F |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,483,833 (GRCm39) |
H398R |
probably benign |
Het |
| Gfra1 |
A |
C |
19: 58,258,555 (GRCm39) |
S271A |
probably benign |
Het |
| Htr1b |
T |
C |
9: 81,513,516 (GRCm39) |
I364V |
possibly damaging |
Het |
| Kcnh5 |
A |
T |
12: 75,023,305 (GRCm39) |
C588S |
possibly damaging |
Het |
| Kif13a |
G |
A |
13: 47,001,813 (GRCm39) |
T70I |
probably benign |
Het |
| Nras |
T |
C |
3: 102,967,616 (GRCm39) |
Y71H |
possibly damaging |
Het |
| Sirt5 |
T |
C |
13: 43,539,052 (GRCm39) |
F274L |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,757,503 (GRCm39) |
T882A |
probably benign |
Het |
| Vmn1r84 |
A |
T |
7: 12,096,690 (GRCm39) |
M1K |
probably null |
Het |
| Zfhx4 |
A |
T |
3: 5,466,793 (GRCm39) |
E2317V |
probably damaging |
Het |
| Zfp345 |
A |
T |
2: 150,314,829 (GRCm39) |
I236K |
probably benign |
Het |
|
| Other mutations in Klra6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00861:Klra6
|
APN |
6 |
130,000,663 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCTTCCCATGTTAGAAAACACC -3'
(R):5'- CATGCCGTGAACTGAGGACTCTTG -3'
Sequencing Primer
(F):5'- CACTAAGGCACTTTTAGTCAGC -3'
(R):5'- ACTGAGTGGTGGGAGGACAT -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation