Incidental Mutation 'IGL02822:Klra6'
| ID |
361037 |
| 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: 0.048)
|
| Stock # |
IGL02822
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
129989996-130003917 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 129993673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 199
(Y199*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074056]
|
| AlphaFold |
Q60653 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000074056
AA Change: Y199*
|
| SMART Domains |
Protein: ENSMUSP00000073700
Gene: ENSMUSG00000061769
AA Change: Y199*
| 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 |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110057P08Rik |
T |
C |
16: 88,971,683 (GRCm39) |
C2R |
unknown |
Het |
| Aldh1a7 |
A |
G |
19: 20,679,630 (GRCm39) |
V382A |
possibly damaging |
Het |
| Asap2 |
T |
C |
12: 21,315,911 (GRCm39) |
V943A |
probably damaging |
Het |
| Bod1l |
C |
T |
5: 41,951,688 (GRCm39) |
V2908M |
possibly damaging |
Het |
| Casd1 |
C |
T |
6: 4,630,017 (GRCm39) |
T471I |
probably damaging |
Het |
| Cd200l1 |
T |
C |
16: 45,262,968 (GRCm39) |
Y57C |
probably damaging |
Het |
| Col20a1 |
T |
C |
2: 180,638,600 (GRCm39) |
Y405H |
probably damaging |
Het |
| Elp1 |
A |
G |
4: 56,774,520 (GRCm39) |
|
probably null |
Het |
| Evi5l |
T |
C |
8: 4,237,248 (GRCm39) |
I117T |
probably damaging |
Het |
| Fbxw5 |
A |
G |
2: 25,393,022 (GRCm39) |
N164S |
probably benign |
Het |
| Fga |
A |
G |
3: 82,938,789 (GRCm39) |
E388G |
probably damaging |
Het |
| Fgfr1 |
A |
G |
8: 26,047,818 (GRCm39) |
T55A |
probably benign |
Het |
| Gdpd4 |
T |
C |
7: 97,621,131 (GRCm39) |
V148A |
possibly damaging |
Het |
| Gsap |
T |
A |
5: 21,422,442 (GRCm39) |
V137D |
probably damaging |
Het |
| Hsdl2 |
A |
G |
4: 59,601,379 (GRCm39) |
H117R |
possibly damaging |
Het |
| Htr4 |
T |
A |
18: 62,561,255 (GRCm39) |
|
probably benign |
Het |
| Ifitm1 |
T |
C |
7: 140,548,191 (GRCm39) |
V8A |
possibly damaging |
Het |
| Kdelr1 |
A |
G |
7: 45,523,288 (GRCm39) |
|
probably benign |
Het |
| Matcap1 |
T |
C |
8: 106,011,330 (GRCm39) |
Y268C |
probably damaging |
Het |
| Mmp21 |
C |
T |
7: 133,277,828 (GRCm39) |
D333N |
possibly damaging |
Het |
| Mocs1 |
T |
C |
17: 49,746,597 (GRCm39) |
F189S |
probably damaging |
Het |
| Myo18b |
C |
T |
5: 112,923,211 (GRCm39) |
A1849T |
probably damaging |
Het |
| Naca |
C |
A |
10: 127,875,214 (GRCm39) |
|
probably benign |
Het |
| Nbea |
A |
T |
3: 55,926,868 (GRCm39) |
H778Q |
possibly damaging |
Het |
| Nlrp4c |
C |
T |
7: 6,068,726 (GRCm39) |
P209L |
probably damaging |
Het |
| Or10q1b |
A |
G |
19: 13,683,019 (GRCm39) |
D276G |
probably benign |
Het |
| Or14j1 |
T |
C |
17: 38,146,534 (GRCm39) |
Y215H |
possibly damaging |
Het |
| Or4a81 |
A |
G |
2: 89,619,444 (GRCm39) |
L84P |
possibly damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,930,118 (GRCm39) |
S258P |
probably damaging |
Het |
| Pclaf |
A |
G |
9: 65,808,875 (GRCm39) |
E108G |
possibly damaging |
Het |
| Pira13 |
T |
A |
7: 3,819,917 (GRCm39) |
T549S |
possibly damaging |
Het |
| Pla2r1 |
C |
A |
2: 60,285,517 (GRCm39) |
C699F |
probably damaging |
Het |
| Pnkp |
A |
G |
7: 44,511,848 (GRCm39) |
Y120C |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,798,204 (GRCm39) |
|
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,587,606 (GRCm39) |
S720P |
probably damaging |
Het |
| Rasa1 |
T |
C |
13: 85,400,633 (GRCm39) |
H301R |
probably damaging |
Het |
| Spg11 |
C |
A |
2: 121,905,015 (GRCm39) |
W1316L |
probably damaging |
Het |
| Ube2t |
C |
T |
1: 134,901,688 (GRCm39) |
|
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,463,882 (GRCm39) |
I803F |
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation