Incidental Mutation 'IGL01677:Klre1'
| ID |
103680 |
| 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 # |
IGL01677
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
129554868-129562790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 129559006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 75
(G75C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053708]
[ENSMUST00000203322]
|
| AlphaFold |
Q8CJC7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053708
AA Change: G75C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000055779
Gene: ENSMUSG00000050241
AA Change: G75C
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
T |
A |
18: 38,129,700 (GRCm39) |
M154L |
probably benign |
Het |
| Asph |
T |
C |
4: 9,607,853 (GRCm39) |
D131G |
probably damaging |
Het |
| Cdc45 |
G |
A |
16: 18,605,750 (GRCm39) |
T429I |
probably benign |
Het |
| Cnga3 |
C |
T |
1: 37,283,999 (GRCm39) |
R101* |
probably null |
Het |
| Cp |
T |
C |
3: 20,020,598 (GRCm39) |
I197T |
probably damaging |
Het |
| Cyp4b1 |
T |
C |
4: 115,493,479 (GRCm39) |
D77G |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,367,928 (GRCm39) |
W2771L |
probably damaging |
Het |
| Fas |
G |
A |
19: 34,296,218 (GRCm39) |
V177I |
probably benign |
Het |
| Gde1 |
A |
G |
7: 118,293,710 (GRCm39) |
|
probably benign |
Het |
| Hyou1 |
T |
C |
9: 44,293,309 (GRCm39) |
S223P |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,086,143 (GRCm39) |
C1461R |
probably benign |
Het |
| Map3k7 |
T |
C |
4: 32,017,158 (GRCm39) |
|
probably benign |
Het |
| Mrpl18 |
A |
T |
17: 13,130,575 (GRCm39) |
I178N |
probably damaging |
Het |
| Nckap1 |
T |
C |
2: 80,360,641 (GRCm39) |
T503A |
probably benign |
Het |
| Or2n1 |
T |
C |
17: 38,486,766 (GRCm39) |
S264P |
probably damaging |
Het |
| Or52n5 |
T |
C |
7: 104,587,852 (GRCm39) |
S40P |
probably benign |
Het |
| Or52u1 |
T |
C |
7: 104,237,352 (GRCm39) |
S114P |
probably damaging |
Het |
| Or7g28 |
T |
C |
9: 19,272,441 (GRCm39) |
D70G |
probably damaging |
Het |
| Orc1 |
C |
T |
4: 108,461,782 (GRCm39) |
T593I |
probably damaging |
Het |
| Phtf1 |
T |
A |
3: 103,906,099 (GRCm39) |
S594T |
probably damaging |
Het |
| Ppp1r13b |
A |
T |
12: 111,810,099 (GRCm39) |
D78E |
probably benign |
Het |
| Proz |
T |
C |
8: 13,115,238 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
C |
A |
10: 85,779,793 (GRCm39) |
Q292H |
probably damaging |
Het |
| Septin11 |
A |
T |
5: 93,296,392 (GRCm39) |
T95S |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,020,069 (GRCm39) |
|
probably benign |
Het |
| Slc45a3 |
T |
A |
1: 131,906,708 (GRCm39) |
I394N |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,956,036 (GRCm39) |
H334R |
probably damaging |
Het |
| Sort1 |
T |
C |
3: 108,252,201 (GRCm39) |
I466T |
probably benign |
Het |
| Susd2 |
A |
T |
10: 75,475,265 (GRCm39) |
V515E |
possibly damaging |
Het |
| Ttll3 |
A |
G |
6: 113,389,945 (GRCm39) |
R778G |
probably benign |
Het |
| Ubfd1 |
T |
A |
7: 121,670,922 (GRCm39) |
|
probably benign |
Het |
| Utrn |
G |
A |
10: 12,619,901 (GRCm39) |
T248M |
probably damaging |
Het |
| Vmn2r11 |
T |
G |
5: 109,201,823 (GRCm39) |
D227A |
possibly damaging |
Het |
|
| Other mutations in Klre1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01131:Klre1
|
APN |
6 |
129,561,133 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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 |
2014-01-21 |
Incidental Mutation