Incidental Mutation 'IGL02199:Klrk1'
ID |
284238 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klrk1
|
Ensembl Gene |
ENSMUSG00000030149 |
Gene Name |
killer cell lectin-like receptor subfamily K, member 1 |
Synonyms |
NKG2-D, Nkg2d, D6H12S2489E |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
IGL02199
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
129587286-129600827 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to C
at 129598207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130398
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032252]
[ENSMUST00000095412]
[ENSMUST00000168919]
|
AlphaFold |
O54709 |
Predicted Effect |
probably null
Transcript: ENSMUST00000032252
|
SMART Domains |
Protein: ENSMUSP00000032252 Gene: ENSMUSG00000030149
Domain | Start | End | E-Value | Type |
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
CLECT
|
115 |
228 |
7.49e-24 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000095412
|
SMART Domains |
Protein: ENSMUSP00000093061 Gene: ENSMUSG00000030149
Domain | Start | End | E-Value | Type |
transmembrane domain
|
54 |
76 |
N/A |
INTRINSIC |
CLECT
|
102 |
215 |
7.49e-24 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137660
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152256
|
Predicted Effect |
probably null
Transcript: ENSMUST00000168919
|
SMART Domains |
Protein: ENSMUSP00000130398 Gene: ENSMUSG00000030149
Domain | Start | End | E-Value | Type |
transmembrane domain
|
54 |
76 |
N/A |
INTRINSIC |
CLECT
|
108 |
221 |
7.49e-24 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204694
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice have defects in Natural Killer (NK) cell development, diminished NK-mediated cytolysis of tumor cells, and resistance to MCMV 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 |
Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
Aspg |
T |
C |
12: 112,087,426 (GRCm39) |
V294A |
probably benign |
Het |
Brms1l |
A |
G |
12: 55,907,957 (GRCm39) |
|
probably benign |
Het |
Celf5 |
T |
A |
10: 81,318,318 (GRCm39) |
D41V |
possibly damaging |
Het |
Clcn3 |
T |
A |
8: 61,386,126 (GRCm39) |
K282* |
probably null |
Het |
Clcn3 |
T |
A |
8: 61,380,308 (GRCm39) |
T543S |
possibly damaging |
Het |
Ctsj |
T |
A |
13: 61,150,351 (GRCm39) |
N216I |
probably damaging |
Het |
Dusp28 |
A |
G |
1: 92,835,280 (GRCm39) |
|
probably benign |
Het |
Fbp1 |
A |
G |
13: 63,015,193 (GRCm39) |
I262T |
probably damaging |
Het |
Gata4 |
A |
G |
14: 63,437,912 (GRCm39) |
V413A |
possibly damaging |
Het |
Glb1 |
A |
G |
9: 114,303,015 (GRCm39) |
N617S |
probably benign |
Het |
Gm454 |
T |
A |
5: 138,202,285 (GRCm39) |
|
noncoding transcript |
Het |
Hesx1 |
A |
G |
14: 26,723,481 (GRCm39) |
S104G |
probably benign |
Het |
Igf2bp3 |
T |
C |
6: 49,065,458 (GRCm39) |
N478S |
probably benign |
Het |
Lamb2 |
A |
G |
9: 108,357,824 (GRCm39) |
T116A |
possibly damaging |
Het |
Mbd2 |
T |
C |
18: 70,726,371 (GRCm39) |
V270A |
probably damaging |
Het |
Meis2 |
C |
T |
2: 115,830,737 (GRCm39) |
V259I |
probably benign |
Het |
Mtcl2 |
A |
T |
2: 156,872,865 (GRCm39) |
L882Q |
probably damaging |
Het |
Ngly1 |
T |
A |
14: 16,290,844 (GRCm38) |
I442K |
probably damaging |
Het |
Nrxn1 |
A |
G |
17: 90,344,686 (GRCm39) |
L409P |
probably damaging |
Het |
Otog |
G |
A |
7: 45,926,775 (GRCm39) |
V1175I |
possibly damaging |
Het |
Parp12 |
C |
T |
6: 39,073,524 (GRCm39) |
A434T |
probably benign |
Het |
Prrt3 |
G |
A |
6: 113,471,770 (GRCm39) |
P801S |
probably damaging |
Het |
Rps6ka2 |
G |
T |
17: 7,521,852 (GRCm39) |
|
probably benign |
Het |
Slc18a1 |
C |
A |
8: 69,496,632 (GRCm39) |
V344L |
probably benign |
Het |
Spg11 |
T |
A |
2: 121,890,034 (GRCm39) |
T2103S |
probably damaging |
Het |
Stoml2 |
A |
G |
4: 43,029,366 (GRCm39) |
|
probably benign |
Het |
Tshr |
T |
G |
12: 91,505,057 (GRCm39) |
L73R |
probably damaging |
Het |
Ylpm1 |
C |
T |
12: 85,080,779 (GRCm39) |
Q786* |
probably null |
Het |
|
Other mutations in Klrk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02572:Klrk1
|
APN |
6 |
129,592,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R0620:Klrk1
|
UTSW |
6 |
129,591,598 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1709:Klrk1
|
UTSW |
6 |
129,591,682 (GRCm39) |
splice site |
probably null |
|
R5045:Klrk1
|
UTSW |
6 |
129,594,466 (GRCm39) |
missense |
probably benign |
0.04 |
R6943:Klrk1
|
UTSW |
6 |
129,598,203 (GRCm39) |
start codon destroyed |
possibly damaging |
0.72 |
R7042:Klrk1
|
UTSW |
6 |
129,593,734 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8039:Klrk1
|
UTSW |
6 |
129,589,786 (GRCm39) |
missense |
probably benign |
0.02 |
R8341:Klrk1
|
UTSW |
6 |
129,599,663 (GRCm39) |
intron |
probably benign |
|
|
Posted On |
2015-04-16 |