Incidental Mutation 'IGL00836:Klra3'
| ID |
11668 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klra3
|
| Ensembl Gene |
ENSMUSG00000067591 |
| Gene Name |
killer cell lectin-like receptor, subfamily A, member 3 |
| Synonyms |
NK-2.1, Nk2.1, Ly49c, Nk2, 5E6, Ly49C, Nk-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
IGL00836
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
130300252-130314537 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130304107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 195
(I195N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088017]
[ENSMUST00000111998]
|
| AlphaFold |
Q64329 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088017
AA Change: I195N
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000085333
Gene: ENSMUSG00000067591
AA Change: I195N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
66 |
N/A |
INTRINSIC |
|
Blast:CLECT
|
73 |
117 |
1e-7 |
BLAST |
|
CLECT
|
143 |
258 |
7.11e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111998
AA Change: I195N
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107629
Gene: ENSMUSG00000067591
AA Change: I195N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
66 |
N/A |
INTRINSIC |
|
Blast:CLECT
|
73 |
117 |
1e-7 |
BLAST |
|
CLECT
|
143 |
258 |
7.11e-16 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc18 |
G |
A |
5: 108,328,391 (GRCm39) |
S697N |
probably benign |
Het |
| Cyp2c29 |
A |
G |
19: 39,313,434 (GRCm39) |
D310G |
probably damaging |
Het |
| Cyp4f13 |
G |
A |
17: 33,160,138 (GRCm39) |
H79Y |
probably benign |
Het |
| Dtna |
T |
C |
18: 23,730,545 (GRCm39) |
S311P |
probably benign |
Het |
| Dynlrb2 |
A |
G |
8: 117,241,572 (GRCm39) |
T39A |
probably benign |
Het |
| Erc2 |
T |
C |
14: 27,762,478 (GRCm39) |
I747T |
probably damaging |
Het |
| Herc6 |
G |
A |
6: 57,596,534 (GRCm39) |
M491I |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,605,285 (GRCm39) |
I1080V |
probably benign |
Het |
| Pls1 |
A |
G |
9: 95,643,475 (GRCm39) |
V508A |
possibly damaging |
Het |
| Prdm10 |
C |
A |
9: 31,241,165 (GRCm39) |
|
probably benign |
Het |
| Rnase1 |
T |
A |
14: 51,383,003 (GRCm39) |
Y117F |
probably benign |
Het |
| S100pbp |
A |
T |
4: 129,075,901 (GRCm39) |
N141K |
possibly damaging |
Het |
| Sin3a |
T |
A |
9: 57,014,629 (GRCm39) |
|
probably null |
Het |
| Slc2a2 |
G |
A |
3: 28,772,890 (GRCm39) |
A228T |
possibly damaging |
Het |
| Smurf2 |
A |
G |
11: 106,743,462 (GRCm39) |
Y182H |
probably benign |
Het |
| Snx2 |
T |
A |
18: 53,349,472 (GRCm39) |
M411K |
possibly damaging |
Het |
| Stx17 |
T |
C |
4: 48,158,955 (GRCm39) |
S90P |
possibly damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,028,462 (GRCm39) |
S534T |
possibly damaging |
Het |
| Tacc2 |
A |
G |
7: 130,360,898 (GRCm39) |
D2730G |
probably damaging |
Het |
| Timm8b |
A |
G |
9: 50,516,294 (GRCm39) |
D49G |
possibly damaging |
Het |
| Ufd1 |
G |
T |
16: 18,646,468 (GRCm39) |
|
probably benign |
Het |
| Zfp974 |
T |
C |
7: 27,610,315 (GRCm39) |
E470G |
possibly damaging |
Het |
|
| Other mutations in Klra3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0004:Klra3
|
UTSW |
6 |
130,300,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1532:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1533:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1534:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1536:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1547:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1548:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1566:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1567:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1769:Klra3
|
UTSW |
6 |
130,307,226 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1772:Klra3
|
UTSW |
6 |
130,300,671 (GRCm39) |
missense |
probably benign |
|
|
R1806:Klra3
|
UTSW |
6 |
130,304,033 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2131:Klra3
|
UTSW |
6 |
130,312,738 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2138:Klra3
|
UTSW |
6 |
130,310,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2152:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2154:Klra3
|
UTSW |
6 |
130,310,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2906:Klra3
|
UTSW |
6 |
130,310,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2907:Klra3
|
UTSW |
6 |
130,310,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4287:Klra3
|
UTSW |
6 |
130,311,265 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4732:Klra3
|
UTSW |
6 |
130,304,095 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4733:Klra3
|
UTSW |
6 |
130,304,095 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4829:Klra3
|
UTSW |
6 |
130,300,579 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5308:Klra3
|
UTSW |
6 |
130,311,270 (GRCm39) |
splice site |
probably null |
|
|
R6701:Klra3
|
UTSW |
6 |
130,307,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7019:Klra3
|
UTSW |
6 |
130,304,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7174:Klra3
|
UTSW |
6 |
130,312,941 (GRCm39) |
splice site |
probably null |
|
|
R8542:Klra3
|
UTSW |
6 |
130,310,096 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8924:Klra3
|
UTSW |
6 |
130,312,732 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9235:Klra3
|
UTSW |
6 |
130,311,218 (GRCm39) |
nonsense |
probably null |
|
|
R9716:Klra3
|
UTSW |
6 |
130,300,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0052:Klra3
|
UTSW |
6 |
130,310,143 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Klra3
|
UTSW |
6 |
130,312,684 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Klra3
|
UTSW |
6 |
130,307,084 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation