Incidental Mutation 'R5210:Klra6'
ID |
403091 |
Institutional Source |
Beutler Lab
|
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: 0.048)
|
Stock # |
R5210 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
129989996-130003917 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 129995855 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 168
(K168*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073700
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074056]
|
AlphaFold |
Q60653 |
Predicted Effect |
probably null
Transcript: ENSMUST00000074056
AA Change: K168*
|
SMART Domains |
Protein: ENSMUSP00000073700 Gene: ENSMUSG00000061769 AA Change: K168*
Domain | Start | End | E-Value | Type |
Blast:CLECT
|
73 |
123 |
3e-9 |
BLAST |
CLECT
|
143 |
258 |
8.42e-18 |
SMART |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (40/41) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
T |
A |
5: 35,994,416 (GRCm39) |
V342E |
probably benign |
Het |
Adgre4 |
T |
A |
17: 56,092,029 (GRCm39) |
N96K |
probably damaging |
Het |
Aopep |
A |
G |
13: 63,215,924 (GRCm39) |
I399V |
probably benign |
Het |
Bltp1 |
T |
C |
3: 37,087,414 (GRCm39) |
V710A |
possibly damaging |
Het |
Ccdc171 |
A |
G |
4: 83,473,093 (GRCm39) |
E174G |
probably damaging |
Het |
Col11a1 |
T |
C |
3: 113,946,806 (GRCm39) |
F1026S |
probably damaging |
Het |
Coro1c |
A |
G |
5: 113,983,367 (GRCm39) |
L387P |
probably damaging |
Het |
Dsg1c |
C |
T |
18: 20,407,758 (GRCm39) |
T368I |
probably damaging |
Het |
Exoc3l4 |
C |
A |
12: 111,395,275 (GRCm39) |
|
probably benign |
Het |
Extl1 |
T |
C |
4: 134,087,895 (GRCm39) |
D453G |
probably benign |
Het |
Gm21136 |
T |
C |
7: 38,567,165 (GRCm39) |
|
noncoding transcript |
Het |
H3c4 |
G |
T |
13: 23,760,015 (GRCm39) |
G14C |
possibly damaging |
Het |
Ifi208 |
T |
C |
1: 173,510,831 (GRCm39) |
S329P |
probably benign |
Het |
Iscu |
T |
A |
5: 113,915,034 (GRCm39) |
L182* |
probably null |
Het |
Map3k5 |
T |
C |
10: 19,900,647 (GRCm39) |
S274P |
possibly damaging |
Het |
Megf6 |
G |
T |
4: 154,354,273 (GRCm39) |
|
probably benign |
Het |
Mmp12 |
T |
A |
9: 7,349,729 (GRCm39) |
Y53* |
probably null |
Het |
Nucb2 |
T |
A |
7: 116,128,222 (GRCm39) |
Y278N |
probably damaging |
Het |
Numa1 |
C |
A |
7: 101,649,188 (GRCm39) |
A973E |
probably benign |
Het |
Or1o4 |
C |
A |
17: 37,590,824 (GRCm39) |
K162N |
probably benign |
Het |
Or2w1b |
A |
T |
13: 21,300,222 (GRCm39) |
Y120F |
probably damaging |
Het |
Or5b123 |
A |
G |
19: 13,596,763 (GRCm39) |
K79R |
probably damaging |
Het |
Or7g18 |
T |
A |
9: 18,787,103 (GRCm39) |
L157Q |
probably damaging |
Het |
Pcdhga3 |
C |
A |
18: 37,808,963 (GRCm39) |
T472K |
probably benign |
Het |
Pclo |
A |
G |
5: 14,763,464 (GRCm39) |
D694G |
probably damaging |
Het |
Plch1 |
A |
G |
3: 63,607,199 (GRCm39) |
|
probably null |
Het |
Pou3f2 |
C |
T |
4: 22,487,324 (GRCm39) |
D270N |
probably damaging |
Het |
Prrc2a |
G |
A |
17: 35,372,596 (GRCm39) |
R1682W |
probably damaging |
Het |
Rb1 |
A |
G |
14: 73,436,751 (GRCm39) |
F838S |
probably damaging |
Het |
Sec24c |
A |
G |
14: 20,741,872 (GRCm39) |
E769G |
probably damaging |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Tmem63c |
A |
T |
12: 87,136,172 (GRCm39) |
E796V |
probably benign |
Het |
Tomm70a |
G |
A |
16: 56,953,614 (GRCm39) |
|
probably null |
Het |
Tpcn1 |
G |
A |
5: 120,677,279 (GRCm39) |
T676I |
probably damaging |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
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 |
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 |
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'- CCCACAGTTTTGTTCACATTACAG -3'
(R):5'- CATAGATCATGAGTGTGCAGGG -3'
Sequencing Primer
(F):5'- AGTTTTGTTCACATTACAGGAAAATC -3'
(R):5'- TGAGAACTATGTGATTTTACCCCC -3'
|
Posted On |
2016-07-22 |