Incidental Mutation 'IGL00838:Klra5'
| ID |
11670 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klra5
|
| Ensembl Gene |
ENSMUSG00000030173 |
| Gene Name |
killer cell lectin-like receptor, subfamily A, member 5 |
| Synonyms |
Ly49e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00838
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
129874715-129890188 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 129888322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 35
(G35C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014683]
[ENSMUST00000118060]
[ENSMUST00000169901]
|
| AlphaFold |
Q60652 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014683
AA Change: G35C
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000014683
Gene: ENSMUSG00000030173
AA Change: G35C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
66 |
N/A |
INTRINSIC |
|
Blast:CLECT
|
73 |
123 |
4e-9 |
BLAST |
|
CLECT
|
143 |
258 |
3.66e-18 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118060
AA Change: G35C
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112795
Gene: ENSMUSG00000030173
AA Change: G35C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
66 |
N/A |
INTRINSIC |
|
Blast:CLECT
|
73 |
123 |
4e-9 |
BLAST |
|
CLECT
|
143 |
258 |
3.66e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169901
|
| SMART Domains |
Protein: ENSMUSP00000126290
Gene: ENSMUSG00000030173
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
53 |
168 |
3.66e-18 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal NK and T cell morphology and function. [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 |
|---|
| Ano7 |
C |
A |
1: 93,330,479 (GRCm39) |
N834K |
possibly damaging |
Het |
| Armc10 |
T |
A |
5: 21,866,579 (GRCm39) |
V281E |
probably damaging |
Het |
| Baat |
A |
T |
4: 49,490,352 (GRCm39) |
M244K |
probably damaging |
Het |
| Cryz |
T |
A |
3: 154,324,112 (GRCm39) |
C166S |
probably damaging |
Het |
| D430041D05Rik |
T |
A |
2: 104,031,648 (GRCm39) |
K1649N |
probably damaging |
Het |
| Dennd5b |
T |
C |
6: 148,906,861 (GRCm39) |
|
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,152,823 (GRCm39) |
R1630* |
probably null |
Het |
| Gstm5 |
A |
G |
3: 107,804,874 (GRCm39) |
N122S |
probably benign |
Het |
| Klrb1f |
G |
A |
6: 129,031,279 (GRCm39) |
V159I |
possibly damaging |
Het |
| Mgl2 |
A |
T |
11: 70,025,038 (GRCm39) |
M14L |
probably benign |
Het |
| Mob1a |
C |
T |
6: 83,315,313 (GRCm39) |
R78C |
possibly damaging |
Het |
| Pigo |
C |
T |
4: 43,021,767 (GRCm39) |
A392T |
possibly damaging |
Het |
| Polr3a |
A |
T |
14: 24,525,931 (GRCm39) |
N436K |
probably benign |
Het |
| Prokr1 |
T |
C |
6: 87,565,675 (GRCm39) |
T57A |
possibly damaging |
Het |
| Ror1 |
T |
G |
4: 100,190,940 (GRCm39) |
V99G |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,583,389 (GRCm39) |
I4755N |
probably damaging |
Het |
| Senp5 |
T |
C |
16: 31,807,991 (GRCm39) |
D394G |
probably damaging |
Het |
| Skic3 |
T |
C |
13: 76,282,910 (GRCm39) |
L744P |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,387,034 (GRCm39) |
I1318V |
possibly damaging |
Het |
| Syt6 |
T |
A |
3: 103,532,942 (GRCm39) |
M357K |
probably damaging |
Het |
| Tex11 |
A |
T |
X: 100,015,724 (GRCm39) |
I328N |
possibly damaging |
Het |
| Vnn1 |
T |
C |
10: 23,776,677 (GRCm39) |
F343L |
possibly damaging |
Het |
| Wdr72 |
A |
T |
9: 74,062,411 (GRCm39) |
E519V |
probably damaging |
Het |
|
| Other mutations in Klra5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00972:Klra5
|
APN |
6 |
129,883,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01770:Klra5
|
APN |
6 |
129,883,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01978:Klra5
|
APN |
6 |
129,888,393 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01998:Klra5
|
APN |
6 |
129,883,676 (GRCm39) |
nonsense |
probably null |
|
|
IGL02103:Klra5
|
APN |
6 |
129,888,307 (GRCm39) |
splice site |
probably null |
|
|
IGL02995:Klra5
|
APN |
6 |
129,883,577 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03036:Klra5
|
APN |
6 |
129,885,830 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0314:Klra5
|
UTSW |
6 |
129,880,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0378:Klra5
|
UTSW |
6 |
129,883,577 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0646:Klra5
|
UTSW |
6 |
129,880,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0731:Klra5
|
UTSW |
6 |
129,885,759 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1552:Klra5
|
UTSW |
6 |
129,886,848 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1572:Klra5
|
UTSW |
6 |
129,883,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1807:Klra5
|
UTSW |
6 |
129,876,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4451:Klra5
|
UTSW |
6 |
129,885,797 (GRCm39) |
nonsense |
probably null |
|
|
R4619:Klra5
|
UTSW |
6 |
129,885,776 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4647:Klra5
|
UTSW |
6 |
129,876,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5019:Klra5
|
UTSW |
6 |
129,876,352 (GRCm39) |
missense |
probably benign |
|
|
R5364:Klra5
|
UTSW |
6 |
129,876,316 (GRCm39) |
missense |
probably benign |
|
|
R6724:Klra5
|
UTSW |
6 |
129,883,643 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6925:Klra5
|
UTSW |
6 |
129,888,420 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7834:Klra5
|
UTSW |
6 |
129,876,253 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8855:Klra5
|
UTSW |
6 |
129,880,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8866:Klra5
|
UTSW |
6 |
129,880,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9144:Klra5
|
UTSW |
6 |
129,886,911 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9145:Klra5
|
UTSW |
6 |
129,886,911 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9148:Klra5
|
UTSW |
6 |
129,886,911 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9440:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9452:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9453:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9454:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9469:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9471:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9615:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9627:Klra5
|
UTSW |
6 |
129,883,701 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Klra5
|
UTSW |
6 |
129,888,415 (GRCm39) |
missense |
not run |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation