Incidental Mutation 'IGL01786:Klra8'
ID |
155081 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klra8
|
Ensembl Gene |
ENSMUSG00000089727 |
Gene Name |
killer cell lectin-like receptor, subfamily A, member 8 |
Synonyms |
Ly49u<129>, Ly49h, Cmv1, Cmv-1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
IGL01786
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
130092189-130106861 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 130096031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014476
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014476]
|
AlphaFold |
Q60682 |
PDB Structure |
Crystal structure of the activating Ly49H receptor in complex with m157 (G1F strain) [X-RAY DIFFRACTION]
|
Predicted Effect |
probably null
Transcript: ENSMUST00000014476
|
SMART Domains |
Protein: ENSMUSP00000014476 Gene: ENSMUSG00000089727
Domain | Start | End | E-Value | Type |
Blast:CLECT
|
73 |
124 |
9e-8 |
BLAST |
CLECT
|
143 |
258 |
6.53e-15 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Most mouse strains other than C57BL/6 and C57BL/10 lack this gene and this correlates with an increased susceptiblity to CMV infection. A congenic strain in which the CMV resistant allele from C57BL/6 mice has been introduced in the BALB/c background shows high susceptibility to malarial infection. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam9 |
T |
A |
8: 25,486,855 (GRCm39) |
H20L |
probably damaging |
Het |
Ano3 |
T |
A |
2: 110,513,060 (GRCm39) |
Q645L |
probably damaging |
Het |
Clasp1 |
T |
A |
1: 118,425,466 (GRCm39) |
L272Q |
possibly damaging |
Het |
Corin |
T |
C |
5: 72,497,219 (GRCm39) |
N532S |
probably damaging |
Het |
Ddx1 |
A |
T |
12: 13,279,137 (GRCm39) |
D468E |
probably benign |
Het |
Hk2 |
A |
G |
6: 82,716,534 (GRCm39) |
S333P |
probably benign |
Het |
Kctd19 |
T |
C |
8: 106,116,936 (GRCm39) |
T398A |
probably benign |
Het |
Mcm8 |
A |
G |
2: 132,669,868 (GRCm39) |
D314G |
probably benign |
Het |
Mga |
T |
A |
2: 119,733,393 (GRCm39) |
D80E |
probably damaging |
Het |
Mylk3 |
T |
C |
8: 86,085,946 (GRCm39) |
Q36R |
probably benign |
Het |
Myom2 |
T |
C |
8: 15,156,330 (GRCm39) |
S726P |
probably damaging |
Het |
Nuf2 |
T |
C |
1: 169,338,052 (GRCm39) |
S242G |
possibly damaging |
Het |
Nup210l |
T |
A |
3: 90,030,083 (GRCm39) |
Y265* |
probably null |
Het |
Or12j3 |
T |
A |
7: 139,953,038 (GRCm39) |
M162L |
probably benign |
Het |
Or5b12b |
C |
T |
19: 12,861,641 (GRCm39) |
T132I |
probably damaging |
Het |
Otud3 |
T |
C |
4: 138,624,208 (GRCm39) |
D278G |
probably benign |
Het |
Papolg |
A |
G |
11: 23,824,488 (GRCm39) |
V298A |
probably damaging |
Het |
Phc1 |
T |
C |
6: 122,296,479 (GRCm39) |
D847G |
possibly damaging |
Het |
Pkd2l1 |
A |
G |
19: 44,179,881 (GRCm39) |
F110L |
probably damaging |
Het |
Plxnd1 |
T |
A |
6: 115,936,896 (GRCm39) |
T1638S |
probably damaging |
Het |
Polr3a |
G |
A |
14: 24,534,188 (GRCm39) |
Q106* |
probably null |
Het |
Rnf32 |
T |
C |
5: 29,411,812 (GRCm39) |
|
probably benign |
Het |
Slc30a9 |
A |
G |
5: 67,503,581 (GRCm39) |
|
probably benign |
Het |
Slc44a2 |
A |
G |
9: 21,263,782 (GRCm39) |
Y650C |
probably damaging |
Het |
Sv2a |
A |
T |
3: 96,095,525 (GRCm39) |
Y306F |
probably benign |
Het |
Tmem50a |
T |
C |
4: 134,625,758 (GRCm39) |
E153G |
probably damaging |
Het |
Tor1a |
A |
G |
2: 30,853,715 (GRCm39) |
|
probably null |
Het |
Trarg1 |
G |
A |
11: 76,571,292 (GRCm39) |
V103I |
probably benign |
Het |
Usp20 |
A |
G |
2: 30,907,175 (GRCm39) |
E594G |
probably benign |
Het |
|
Other mutations in Klra8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01363:Klra8
|
APN |
6 |
130,092,561 (GRCm39) |
missense |
probably benign |
|
IGL02145:Klra8
|
APN |
6 |
130,102,199 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02531:Klra8
|
APN |
6 |
130,095,933 (GRCm39) |
missense |
possibly damaging |
0.67 |
P4748:Klra8
|
UTSW |
6 |
130,099,007 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0082:Klra8
|
UTSW |
6 |
130,102,018 (GRCm39) |
missense |
probably benign |
0.00 |
R0853:Klra8
|
UTSW |
6 |
130,095,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R1517:Klra8
|
UTSW |
6 |
130,092,603 (GRCm39) |
missense |
probably benign |
0.02 |
R1610:Klra8
|
UTSW |
6 |
130,095,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R1669:Klra8
|
UTSW |
6 |
130,092,592 (GRCm39) |
nonsense |
probably null |
|
R2015:Klra8
|
UTSW |
6 |
130,092,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R3784:Klra8
|
UTSW |
6 |
130,102,018 (GRCm39) |
missense |
probably benign |
0.02 |
R6909:Klra8
|
UTSW |
6 |
130,102,123 (GRCm39) |
missense |
probably benign |
0.03 |
R7009:Klra8
|
UTSW |
6 |
130,102,147 (GRCm39) |
missense |
probably benign |
0.02 |
R8443:Klra8
|
UTSW |
6 |
130,105,056 (GRCm39) |
missense |
probably damaging |
0.98 |
R9055:Klra8
|
UTSW |
6 |
130,096,017 (GRCm39) |
missense |
probably benign |
0.00 |
X0013:Klra8
|
UTSW |
6 |
130,102,082 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2014-02-04 |