Incidental Mutation 'IGL01131:Klre1'
ID |
51363 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klre1
|
Ensembl Gene |
ENSMUSG00000050241 |
Gene Name |
killer cell lectin-like receptor family E member 1 |
Synonyms |
NKG2I, Klre-1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01131
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
129554868-129562790 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 129561133 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 165
(F165L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053708]
[ENSMUST00000203322]
|
AlphaFold |
Q8CJC7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053708
AA Change: F165L
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000055779 Gene: ENSMUSG00000050241 AA Change: F165L
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
51 |
N/A |
INTRINSIC |
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
CLECT
|
113 |
225 |
5.69e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203322
|
SMART Domains |
Protein: ENSMUSP00000145085 Gene: ENSMUSG00000050241
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
51 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203865
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice are viable and fertile and display impaired natural killer cell mediated allogeneic cytotoxicity. [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 |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
Cfap20 |
T |
C |
8: 96,151,287 (GRCm39) |
D18G |
probably damaging |
Het |
Cpne3 |
T |
C |
4: 19,543,318 (GRCm39) |
D160G |
probably damaging |
Het |
Ercc3 |
A |
G |
18: 32,402,942 (GRCm39) |
*784W |
probably null |
Het |
Fam53b |
T |
C |
7: 132,317,511 (GRCm39) |
E377G |
probably damaging |
Het |
Far2 |
T |
C |
6: 148,052,096 (GRCm39) |
V125A |
possibly damaging |
Het |
Fasn |
T |
C |
11: 120,705,445 (GRCm39) |
E1192G |
probably benign |
Het |
Irf5 |
A |
G |
6: 29,536,102 (GRCm39) |
E372G |
probably damaging |
Het |
Kif2c |
C |
T |
4: 117,029,562 (GRCm39) |
V140M |
probably damaging |
Het |
Kmt2a |
C |
T |
9: 44,732,467 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,329,583 (GRCm39) |
C1728Y |
probably damaging |
Het |
Muc4 |
C |
A |
16: 32,753,901 (GRCm38) |
T1259N |
possibly damaging |
Het |
Nlrp9b |
A |
G |
7: 19,757,462 (GRCm39) |
D233G |
probably damaging |
Het |
Nuf2 |
T |
C |
1: 169,349,933 (GRCm39) |
|
probably benign |
Het |
Nynrin |
A |
G |
14: 56,110,142 (GRCm39) |
K1750E |
probably damaging |
Het |
Or5b109 |
A |
G |
19: 13,212,103 (GRCm39) |
D163G |
probably benign |
Het |
Parp4 |
C |
A |
14: 56,823,217 (GRCm39) |
|
probably benign |
Het |
Rbms1 |
T |
C |
2: 60,589,180 (GRCm39) |
M287V |
probably benign |
Het |
Rhox3c |
G |
A |
X: 36,651,982 (GRCm39) |
R71K |
probably damaging |
Het |
Rufy1 |
A |
G |
11: 50,282,850 (GRCm39) |
L638P |
probably damaging |
Het |
Slc15a3 |
G |
A |
19: 10,834,986 (GRCm39) |
|
probably benign |
Het |
Slc26a9 |
T |
C |
1: 131,683,280 (GRCm39) |
|
probably null |
Het |
Slc6a13 |
A |
G |
6: 121,298,600 (GRCm39) |
Y150C |
probably damaging |
Het |
Slitrk6 |
A |
T |
14: 110,989,008 (GRCm39) |
L233Q |
probably damaging |
Het |
Ugt3a1 |
T |
A |
15: 9,365,248 (GRCm39) |
I287N |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,471,335 (GRCm39) |
N1778S |
probably benign |
Het |
Vmn1r212 |
T |
C |
13: 23,067,329 (GRCm39) |
N335D |
unknown |
Het |
Wdfy1 |
C |
T |
1: 79,691,589 (GRCm39) |
V273I |
probably benign |
Het |
|
Other mutations in Klre1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01677:Klre1
|
APN |
6 |
129,559,006 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03329:Klre1
|
APN |
6 |
129,562,660 (GRCm39) |
utr 3 prime |
probably benign |
|
R0533:Klre1
|
UTSW |
6 |
129,560,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R0731:Klre1
|
UTSW |
6 |
129,562,531 (GRCm39) |
splice site |
probably benign |
|
R0961:Klre1
|
UTSW |
6 |
129,559,378 (GRCm39) |
missense |
probably benign |
0.01 |
R2151:Klre1
|
UTSW |
6 |
129,556,996 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2266:Klre1
|
UTSW |
6 |
129,562,593 (GRCm39) |
missense |
probably benign |
0.00 |
R3982:Klre1
|
UTSW |
6 |
129,560,101 (GRCm39) |
nonsense |
probably null |
|
R4791:Klre1
|
UTSW |
6 |
129,561,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R4901:Klre1
|
UTSW |
6 |
129,561,188 (GRCm39) |
missense |
probably benign |
0.27 |
R6713:Klre1
|
UTSW |
6 |
129,559,229 (GRCm39) |
splice site |
probably null |
|
R6845:Klre1
|
UTSW |
6 |
129,561,202 (GRCm39) |
missense |
probably damaging |
0.98 |
R7141:Klre1
|
UTSW |
6 |
129,560,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R7593:Klre1
|
UTSW |
6 |
129,560,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R8108:Klre1
|
UTSW |
6 |
129,561,185 (GRCm39) |
missense |
probably benign |
0.05 |
R8393:Klre1
|
UTSW |
6 |
129,557,025 (GRCm39) |
missense |
probably damaging |
0.98 |
R8401:Klre1
|
UTSW |
6 |
129,556,989 (GRCm39) |
missense |
probably benign |
0.02 |
R9456:Klre1
|
UTSW |
6 |
129,559,368 (GRCm39) |
missense |
probably benign |
0.15 |
|
Posted On |
2013-06-21 |