Incidental Mutation 'P4748:Klra8'
| ID |
26539 |
| Institutional Source |
Beutler Lab
|
| 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 # |
P4748 ()
of strain
712
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
130092189-130106861 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130099007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 185
(D185E)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000014476
AA Change: D185E
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000014476
Gene: ENSMUSG00000089727
AA Change: D185E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
73 |
124 |
9e-8 |
BLAST |
|
CLECT
|
143 |
258 |
6.53e-15 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.5%
- 20x: 94.5%
|
| Validation Efficiency |
87% (26/30) |
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| 4930556J24Rik |
A |
T |
11: 3,888,178 (GRCm39) |
|
probably null |
Het |
| Acoxl |
T |
C |
2: 127,928,264 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
G |
C |
10: 20,848,009 (GRCm39) |
R472S |
probably damaging |
Het |
| Akap10 |
A |
G |
11: 61,763,846 (GRCm39) |
L662P |
possibly damaging |
Het |
| Arhgef10 |
C |
T |
8: 14,978,925 (GRCm39) |
T64M |
possibly damaging |
Het |
| Ccr4 |
C |
T |
9: 114,321,906 (GRCm39) |
G53D |
probably damaging |
Het |
| Cdc25a |
T |
C |
9: 109,713,176 (GRCm39) |
|
probably benign |
Het |
| Clec4n |
A |
C |
6: 123,221,499 (GRCm39) |
Q114H |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,210,983 (GRCm39) |
|
probably benign |
Het |
| Depdc1a |
T |
C |
3: 159,228,184 (GRCm39) |
V312A |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,594,219 (GRCm39) |
P583L |
probably damaging |
Het |
| Meis2 |
T |
A |
2: 115,694,961 (GRCm39) |
Q394L |
probably benign |
Het |
| Or2t47 |
G |
A |
11: 58,442,348 (GRCm39) |
T239I |
probably damaging |
Het |
| Pzp |
C |
T |
6: 128,467,052 (GRCm39) |
G1107D |
probably damaging |
Het |
| Ralgapa2 |
C |
T |
2: 146,188,731 (GRCm39) |
W1350* |
probably null |
Het |
| Scand1 |
C |
A |
2: 156,153,865 (GRCm39) |
R135L |
probably damaging |
Het |
| Spopl |
A |
T |
2: 23,401,455 (GRCm39) |
M351K |
probably benign |
Het |
| Tmed4 |
T |
C |
11: 6,223,727 (GRCm39) |
|
probably benign |
Het |
| Ube2e2 |
A |
G |
14: 18,630,297 (GRCm38) |
|
probably null |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Usp51 |
GATGCAT |
GAT |
X: 151,791,227 (GRCm39) |
|
probably null |
Het |
| Wrap53 |
A |
T |
11: 69,453,031 (GRCm39) |
D425E |
probably damaging |
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 |
|
|
IGL01786:Klra8
|
APN |
6 |
130,096,031 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCACTTAACAGACTTGTGTCCCAC -3'
(R):5'- TCCAAACCATCCTCAAGTGATGTTTGTC -3'
Sequencing Primer
(F):5'- GTGTCCCACAGTTCACATTATAGG -3'
(R):5'- gcatcattttctctattgattcatcc -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation